Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation.
paper
Cited
Public
Unavailable
- Authors
- Allen, R C; Zoghbi, H Y; Moseley, A B; Rosenblatt, H M; Belmont, J W
- Year
- 1992
- Journal
- American journal of human genetics
- PMID
- 1281384
- PMCID
- PMC1682906
The human androgen-receptor gene (HUMARA; GenBank) contains a highly polymorphic trinucleotide repeat in the first exon. We have found that the methylation of HpaII and HhaI sites less than 100 bp away from this polymorphic short tandem repeat (STR) correlates with X inactivation. The close proximity of the restriction-enzyme sites to the STR allows the development of a PCR assay that distinguishes between the maternal and paternal alleles and identifies their methylation status. The accuracy of this assay was tested on (a) DNA from hamster/human hybrid cell lines containing either an active or inactive human X chromosome; (b) DNA from normal males and females; and (c) DNA from females showing nonrandom patterns of X inactivation. Data obtained using this assay correlated substantially with those obtained using the PGK, HPRT, and M27 beta probes, which detect X inactivation patterns by Southern blot analysis. In order to demonstrate one application of this assay, we examined X inactivation patterns in the B lymphocytes of potential and obligate carriers of X-linked agammaglobulinemia.
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| Development of canine X-chromosome inactivation pattern analysis for the detection of cell clonality by incorporating the examination of the SLIT and NTRK-like family member 4 (SLITRK4) gene. | Tomita A et al. | β | 2019 | β |
| Future clinical and biochemical predictions of Fabry disease in females by methylation studies of the <i>GLA</i> gene. | Hossain MA et al. | β | 2019 | β |
| Genes known to escape X chromosome inactivation predict co-morbid chronic musculoskeletal pain and posttraumatic stress symptom development in women following trauma exposure. | Yu S et al. | β | 2019 | β |
| Heritability of skewed X-inactivation in female twins is tissue-specific and associated with age. | Zito A et al. | β | 2019 | β |
| Investigation of the clonal origin of multifocal papillary thyroid carcinoma according to the X-chromosome inactivation pattern. | Chen D et al. | β | 2019 | β |
| <i>NAA10</i> polyadenylation signal variants cause syndromic microphthalmia. | Johnston JJ et al. | β | 2019 | β |
| Lysosomal Signaling Licenses Embryonic Stem Cell Differentiation via Inactivation of Tfe3. | Villegas F et al. | β | 2019 | β |
| Mechanistic insights revealed by a UBE2A mutation linked to intellectual disability. | de Oliveira JF et al. | β | 2019 | β |
| Missense variants in TAF1 and developmental phenotypes: challenges of determining pathogenicity. | Cheng H et al. | β | 2019 | β |
| Molecular and Clinical Characterization of a Novel Nonsense Variant in Exon 1 of the <i>UPF3B</i> Gene Found in a Large Spanish Basque Family (MRX82). | Tejada MI et al. | β | 2019 | β |
| Mutations in <i>MAGT1</i> lead to a glycosylation disorder with a variable phenotype. | Blommaert E et al. | β | 2019 | β |
| Ocular Manifestations of the <i>NAA10</i>-Related Syndrome. | Gupta AS et al. | β | 2019 | β |
| Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorder. | Frints SGM et al. | β | 2019 | β |
| Single-cell RNA-seq reveals distinct dynamic behavior of sex chromosomes during early human embryogenesis. | Zhou Q et al. | β | 2019 | β |
| SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals. | Ng BG et al. | β | 2019 | β |
| TAF1, associated with intellectual disability in humans, is essential for embryogenesis and regulates neurodevelopmental processes in zebrafish. | Gudmundsson S et al. | β | 2019 | β |
| X chromosome inactivation does not necessarily determine the severity of the phenotype in Rett syndrome patients. | Xiol C et al. | β | 2019 | β |
| X-chromosome inactivation pattern of amniocytes predicts the risk of dystrophinopathy in fetal carriers of DMD mutations. | He WB et al. | β | 2019 | β |
| X chromosome-linked long noncoding RNA lnc-XLEC1 regulates c-Myc-dependent cell growth by collaborating with MBP-1 in endometrial cancer. | Li F et al. | β | 2019 | β |
| X-Linked Emery-Dreifuss Muscular Dystrophy: Study Of X-Chromosome Inactivation and Its Relation with Clinical Phenotypes in Female Carriers. | Viggiano E et al. | β | 2019 | β |
| Ξ de novo 3.8-Mb inversion affecting the EDA and XIST genes in a heterozygous female calf with generalized hypohidrotic ectodermal dysplasia. | Escouflaire C et al. | β | 2019 | β |
| A comprehensive clinical and genetic study in 127 patients with ID in Kinshasa, DR Congo. | Lumaka A et al. | β | 2018 | β |
| Altered Gene-Regulatory Function of KDM5C by a Novel Mutation Associated With Autism and Intellectual Disability. | Vallianatos CN et al. | β | 2018 | β |
| Classical fragile-X phenotype in a female infant disclosed by comprehensive genomic studies. | Jorge P et al. | β | 2018 | β |
| Congenital diaphragmatic hernia as a part of Nance-Horan syndrome? | Kammoun M et al. | β | 2018 | β |
| CXorf56, a dendritic neuronal protein, identified as a new candidate gene for X-linked intellectual disability. | Verkerk AJMH et al. | β | 2018 | β |
| Demonstration of a novel Xp22.2 microdeletion as the cause of familial extreme skewing of X-inactivation utilizing case-parent trio SNP microarray analysis. | Mason JA et al. | β | 2018 | β |
| Development of ultra-deep targeted RNA sequencing for analyzing X-chromosome inactivation in female Dent disease. | Minamikawa S et al. | β | 2018 | β |
| Differential regulation of two FLNA transcripts explains some of the phenotypic heterogeneity in the loss-of-function filaminopathies. | Jenkins ZA et al. | β | 2018 | β |
| Female Fabry disease patients and X-chromosome inactivation. | Juchniewicz P et al. | β | 2018 | β |
| Four Japanese Patients with Congenital Nephrogenic Diabetes Insipidus due to the <i>AVPR2</i> Mutations. | Namatame-Ohta N et al. | β | 2018 | β |
| Hemophilia B in a female with intellectual disability caused by a deletion of Xq26.3q28 encompassing the F9. | Stoof SCM et al. | β | 2018 | β |
| HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients. | Moortgat S et al. | β | 2018 | β |
| Hypomyelinating disorders in China: The clinical and genetic heterogeneity in 119 patients. | Ji H et al. | β | 2018 | β |
| Iron overload is accompanied by mitochondrial and lysosomal dysfunction in WDR45 mutant cells. | Seibler P et al. | β | 2018 | β |
| <i>WDR45</i> mutations may cause a <i>MECP2</i> mutation-negative Rett syndrome phenotype. | Kulikovskaja L et al. | β | 2018 | β |
| MeCP2 AT-Hook1 mutations in patients with intellectual disability and/or schizophrenia disrupt DNA binding and chromatin compaction in vitro. | Sheikh TI et al. | β | 2018 | β |
| Molecular characterization of HDAC8 deletions in individuals with atypical Cornelia de Lange syndrome. | Helgeson M et al. | β | 2018 | β |
| Mosaicism of the UDP-Galactose transporter SLC35A2 in a female causing a congenital disorder of glycosylation: a case report. | Westenfield K et al. | β | 2018 | β |
| New splicing pathogenic variant in EBP causing extreme familial variability of Conradi-HΓΌnermann-Happle Syndrome. | Pacault M et al. | β | 2018 | β |
| Polyclonal origin of parathyroid tumors is common and is associated with multiple gland disease in primary hyperparathyroidism. | Shi Y et al. | β | 2018 | β |
| Position effect, cryptic complexity, and direct gene disruption as disease mechanisms in de novo apparently balanced translocation cases. | Aristidou C et al. | β | 2018 | β |
| Potential for Mitochondrial DNA Sequencing in the Differential Diagnosis of Gynaecological Malignancies. | Perrone AM et al. | β | 2018 | β |
| Prevalence of Novel <i>MAGED2</i> Mutations in Antenatal Bartter Syndrome. | Legrand A et al. | β | 2018 | β |
| Severe infantile onset developmental and epileptic encephalopathy caused by mutations in autophagy gene WDR45. | Carvill GL et al. | β | 2018 | β |
| Skewed X-chromosome inactivation and next-generation sequencing to identify a novel SMPX variants associated with X-linked hearing loss in a Chinese family. | Gao S et al. | β | 2018 | β |
| Skewed X-chromosome inactivation and shorter telomeres associate with idiopathic premature ovarian insufficiency. | Miranda-Furtado CL et al. | β | 2018 | β |
| Skewed X chromosome inactivation in girls and female adolescents with autoimmune thyroid disease. | Santiwatana S et al. | β | 2018 | β |
| The Bleeding Assessment Tool and laboratory data in the characterisation of a female with inherited haemophilia A. | Daidone V et al. | β | 2018 | β |
| The effect of CAG repeats length on differences in hirsutism among healthy Israeli women of different ethnicities. | Weintrob N et al. | β | 2018 | β |
| Thyroxine-binding globulin deficiency due to a novel SERPINA7 mutation: Clinical characterization, analysis of X-chromosome inactivation pattern and protein structural modeling. | Gomes-Lima CJ et al. | β | 2018 | β |
| Two microcephaly-associated novel missense mutations in CASK specifically disrupt the CASK-neurexin interaction. | LaConte LEW et al. | β | 2018 | β |
| Variable X-chromosome inactivation and enlargement of pericentral glutamine synthetase zones in the liver of heterozygous females with OTC deficiency. | Musalkova D et al. | β | 2018 | β |
| Whole exome sequencing discloses a pathogenic MTM1 gene mutation and ends the diagnostic odyssey in an older woman with a progressive and seemingly sporadic myopathy: Case report and literature review of MTM1 manifesting female carriers. | Felice KJ et al. | β | 2018 | β |
| A Case of Beta-propeller Protein-associated Neurodegeneration due to a Heterozygous Deletion of <i>WDR45</i>. | Hermann A et al. | β | 2017 | β |
| Advanced cell-based modeling of the royal disease: characterization of the mutated F9 mRNA. | Martorell L et al. | β | 2017 | β |
| Affected female carriers of MTM1 mutations display a wide spectrum of clinical and pathological involvement: delineating diagnostic clues. | Biancalana V et al. | β | 2017 | β |
| A non-mosaic <i>PORCN</i> mutation in a male with severe congenital anomalies overlapping focal dermal hypoplasia. | Madan S et al. | β | 2017 | β |
| A novel <i>UBE2A</i> mutation causes X-linked intellectual disability type Nascimento. | Tsurusaki Y et al. | β | 2017 | β |
| Clinical and molecular genetic characterization of familial MECP2 duplication syndrome in a Chinese family. | Li X et al. | β | 2017 | β |
| Clinical, Molecular, and Computational Analysis in Patients With a Novel Double Mutation and a New Synonymous Variant in MeCP2: Report of the First Missense Mutation Within the AT-hook1 Cluster in Rett Syndrome. | Kharrat M et al. | β | 2017 | β |
| Exome sequence identified a c.320AΒ >Β G ALG13 variant in a female with infantile epileptic encephalopathy with normal glycosylation and random X inactivation: Review of the literature. | Hamici S et al. | β | 2017 | β |
| Exome sequencing in children of women with skewed X-inactivation identifies atypical cases and complex phenotypes. | Giorgio E et al. | β | 2017 | β |
| Familial cases and male cases with MECP2 mutations. | Zhang Q et al. | β | 2017 | β |
| Female X-linked Alport syndrome with somatic mosaicism. | Yokota K et al. | β | 2017 | β |
| <i>CTCF</i> deletion syndrome: clinical features and epigenetic delineation. | Hori I et al. | β | 2017 | β |
| Identification and characterization of a missense mutation in the <i>O</i>-linked Ξ²-<i>N</i>-acetylglucosamine (<i>O</i>-GlcNAc) transferase gene that segregates with X-linked intellectual disability. | Vaidyanathan K et al. | β | 2017 | β |
| <i>DNMT3A</i> and <i>TET2</i> dominate clonal hematopoiesis and demonstrate benign phenotypes and different genetic predispositions. | Buscarlet M et al. | β | 2017 | β |
| Immunodeficiency in Two Female Patients with Incontinentia Pigmenti with Heterozygous NEMO Mutation Diagnosed by LPS Unresponsiveness. | Ohnishi H et al. | β | 2017 | β |
| Induction of Pluripotent Stem Cells from a Manifesting Carrier of Duchenne Muscular Dystrophy and Characterization of Their X-Inactivation Status. | Miyagoe-Suzuki Y et al. | β | 2017 | β |
| Lack of interaction between NEMO and SHARPIN impairs linear ubiquitination and NF-ΞΊB activation and leads to incontinentia pigmenti. | Bal E et al. | β | 2017 | β |
| Low salinity affects cellularity, DNA methylation, and mRNA expression of igf1 in the liver of half smooth tongue sole (Cynoglossus semilaevis). | Li S et al. | β | 2017 | β |
| Microsatellites within the feline androgen receptor are suitable for X chromosome-linked clonality testing in archival material. | Farwick NM et al. | β | 2017 | β |
| Novel PRPS1 gain-of-function mutation in a patient with congenital hyperuricemia and facial anomalies. | Porrmann J et al. | β | 2017 | β |
| Preleukemia: one name, many meanings. | Koeffler HP et al. | β | 2017 | β |
| Skewed X-chromosome inactivation and XIST locus methylation levels do not contribute to the lower prevalence of Parkinson's disease in females. | Sharma A et al. | β | 2017 | β |
| Skewed X-inactivation in a family with DLG3-associated X-linked intellectual disability. | Gieldon L et al. | β | 2017 | β |
| Skewed X inactivation in Lesch-Nyhan disease carrier females. | Torres RJ et al. | β | 2017 | β |
| STAR syndrome plus: The first description of a female patient with the lethal form. | Bedeschi MF et al. | β | 2017 | β |
| The D313Y variant in the GLA gene - no evidence of a pathogenic role in Fabry disease. | Hasholt L et al. | β | 2017 | β |
| The severe clinical phenotype for a heterozygous Fabry female patient correlates to the methylation of non-mutated allele associated with chromosome 10q26 deletion syndrome. | Hossain MA et al. | β | 2017 | β |
| The State of Skewed X Chromosome Inactivation is Retained in the Induced Pluripotent Stem Cells from a Female with Hemophilia B. | Lyu C et al. | β | 2017 | β |
| Two Novel Pathogenic <i>MID1</i> Variants and Genotype-Phenotype Correlation Reanalysis in X-Linked Opitz G/BBB Syndrome. | Maia N et al. | β | 2017 | β |
| Variable White Matter Atrophy and Intellectual Development in a Family With X-linked Creatine Transporter Deficiency Despite Genotypic Homogeneity. | Heussinger N et al. | β | 2017 | β |
| Whole exome sequencing of families with 1q21.1 microdeletion or microduplication. | Qiao Y et al. | β | 2017 | β |
| Alpha-Galactosidase A p.A143T, a non-Fabry disease-causing variant. | Lenders M et al. | β | 2016 | β |
| Altered microtubule dynamics and vesicular transport in mouse and human MeCP2-deficient astrocytes. | DelΓ©pine C et al. | β | 2016 | β |
| A microdeletion at Xq22.2 implicates a glycine receptor GLRA4 involved in intellectual disability, behavioral problems and craniofacial anomalies. | Labonne JD et al. | β | 2016 | β |
| A new family with an SLC9A6 mutation expanding the phenotypic spectrum of Christianson syndrome. | Masurel-Paulet A et al. | β | 2016 | β |
| A novel CDKL5 mutation in a Japanese patient with atypical Rett syndrome. | Christianto A et al. | β | 2016 | β |
| A Novel Mutation in a Japanese Family with X-linked Alport Syndrome. | Abe Y et al. | β | 2016 | β |
| A recurrent germline mutation in the PIGA gene causes Simpson-Golabi-Behmel syndrome type 2. | Fauth C et al. | β | 2016 | β |
| Chromosome Xq28 duplication encompassing MECP2: Clinical and molecular analysis of 16 new patients from 10 families in China. | Yi Z et al. | β | 2016 | β |
| Clonal hematopoiesis in patients with dyskeratosis congenita. | Perdigones N et al. | β | 2016 | β |
| Clonality analysis performed using human androgen receptor assay in a rare case of undifferentiated thymic carcinoma coexisting with type AB thymoma. | Karino F et al. | β | 2016 | β |
| Clonality assessment of adenomatoid tumor supports its neoplastic nature. | Wang W et al. | β | 2016 | β |
| Common variable immunodeficiency and natural killer cell lymphopenia caused by Ets-binding site mutation in the IL-2 receptor Ξ³ (IL2RG) gene promoter. | Chandra A et al. | β | 2016 | β |
| Complexities of X chromosome inactivation status in female human induced pluripotent stem cells-a brief review and scientific update for autism research. | Dandulakis MG et al. | β | 2016 | β |
| Concomitant partial exon skipping by a unique missense mutation of RPS6KA3 causes Coffin-Lowry syndrome. | Labonne JD et al. | β | 2016 | β |
| De novo loss-of-function mutations in X-linked SMC1A cause severe ID and therapy-resistant epilepsy in females: expanding the phenotypic spectrum. | Jansen S et al. | β | 2016 | β |
| Determining the role of skewed X-chromosome inactivation in developing muscle symptoms in carriers of Duchenne muscular dystrophy. | Viggiano E et al. | β | 2016 | β |
| Discovery, Characterization, and Functional Study of a Novel MEF2D CAG Repeat in Duck (Anas platyrhynchos). | Wang Y et al. | β | 2016 | β |
| Evaluation of X Chromosome Inactivation with Respect to HLA Genetic Susceptibility in Rheumatoid Arthritis and Systemic Sclerosis. | Kanaan SB et al. | β | 2016 | β |
| Exercise Intolerance and Myoglobinuria Associated with a Novel Maternally Inherited MT-ND1 Mutation. | Rafiq J et al. | β | 2016 | β |
| Exome sequencing identifies a mutation in OFD1 in a male with Joubert syndrome, orofaciodigital spectrum anomalies and complex polydactyly. | Wentzensen IM et al. | β | 2016 | β |
| Expanding the Phenotype Associated with NAA10-Related N-Terminal Acetylation Deficiency. | Saunier C et al. | β | 2016 | β |
| GLA variation p.E66Q identified as the genetic etiology of Fabry disease using exome sequencing. | Peng H et al. | β | 2016 | β |
| Have humans lost control: The elusive X-controlling element. | Peeters SB et al. | β | 2016 | β |
| Identification of Intellectual Disability Genes in Female Patients with a Skewed X-Inactivation Pattern. | Fieremans N et al. | β | 2016 | β |
| Incorporation of 5-ethynyl-2'-deoxyuridine (EdU) as a novel strategy for identification of the skewed X inactivation pattern in balanced and unbalanced X-rearrangements. | Sisdelli L et al. | β | 2016 | β |
| Inherited Xq13.2-q21.31 duplication in a boy with recurrent seizures and pubertal gynecomastia: Clinical, chromosomal and aCGH characterization. | Linhares ND et al. | β | 2016 | β |
| Lessons from a pair of siblings with BPAN. | Zarate YA et al. | β | 2016 | β |
| MECP2 missense mutations outside the canonical MBD and TRD domains in males with intellectual disability. | Bianciardi L et al. | β | 2016 | β |
| MECP2 mutations in Czech patients with Rett syndrome and Rett-like phenotypes: novel mutations, genotype-phenotype correlations and validation of high-resolution melting analysis for mutation scanning. | Zahorakova D et al. | β | 2016 | β |
| Metal-Dependent Regulation of ATP7A and ATP7B in Fibroblast Cultures. | Lenartowicz M et al. | β | 2016 | β |
| Modeling X Chromosome Data Using Random Forests: Conquering Sex Bias. | Winham SJ et al. | β | 2016 | β |
| Novel CDKL5 Mutations in Czech Patients with Phenotypes of Atypical Rett Syndrome and Early-Onset Epileptic Encephalopathy. | ZΓ‘horΓ‘kovΓ‘ D et al. | β | 2016 | β |
| Novel GLA Deletion in a Cypriot Female Presenting with Cornea Verticillata. | Georgiou T et al. | β | 2016 | β |
| Polyclonality in Sclerosing Angiomatoid Nodular Transformation of the Spleen. | Chang KC et al. | β | 2016 | β |
| The MECP2 variant c.925C>T (p.Arg309Trp) causes intellectual disability in both males and females without classic features of Rett syndrome. | SchΓΆnewolf-Greulich B et al. | β | 2016 | β |
| The Presence of Clitoromegaly in the Nonclassical Form of 21-Hydroxylase Deficiency Could Be Partially Modulated by the CAG Polymorphic Tract of the Androgen Receptor Gene. | Moura-Massari VO et al. | β | 2016 | β |
| Towards a Better Molecular Diagnosis of FMR1-Related Disorders-A Multiyear Experience from a Reference Lab. | RzoΕca SO et al. | β | 2016 | β |
| Transplantation from a symptomatic carrier sister restores host defenses but does not prevent colitis in NEMO deficiency. | Klemann C et al. | β | 2016 | β |
| Two girls with a de novo Xq rearrangement of paternal origin: t(X;9)(q24;q12) or rea(X)dup q. | VΓ‘squez-VelΓ‘squez AI et al. | β | 2016 | β |
| Two male sibs with severe micrognathia and a missense variant in MED12. | Prescott TE et al. | β | 2016 | β |
| X-chromosomal inactivation directly influences the phenotypic manifestation of X-linked protoporphyria. | Brancaleoni V et al. | β | 2016 | β |
| X-chromosome inactivation in female patients with Fabry disease. | Echevarria L et al. | β | 2016 | β |
| X inactivation and reactivation in X-linked diseases. | Vacca M et al. | β | 2016 | β |
| Xq25 duplication: the crucial role of the STAG2 gene in this novel human cohesinopathy. | Leroy C et al. | β | 2016 | β |
| 625 kb microduplication at Xp22.12 including RPS6KA3 in a child with mild intellectual disability. | Bertini V et al. | β | 2015 | β |
| Alpha-thalassemia intellectual disability: variable phenotypic expression among males with a recurrent nonsense mutationΒ -Β c.109C>T (p.R37X). | Basehore MJ et al. | β | 2015 | β |
| Androgen receptor CAG repeat length and estrogen receptor status in postmenopausal breast cancer prognosis. | Cogliati P et al. | β | 2015 | β |
| Biochemical and cellular analysis of Ogden syndrome reveals downstream Nt-acetylation defects. | Myklebust LM et al. | β | 2015 | β |
| Clinical characterization of int22h1/int22h2-mediated Xq28 duplication/deletion: new cases and literature review. | El-Hattab AW et al. | β | 2015 | β |
| Congenital erythropoietic porphyria linked to GATA1-R216W mutation: challenges for diagnosis. | Di Pierro E et al. | β | 2015 | β |
| Demonstration of the cell clonality in canine hematopoietic tumors by X-chromosome inactivation pattern analysis. | Mochizuki H et al. | β | 2015 | β |
| DNA methylation levels analysis in four tissues of sea cucumber Apostichopus japonicus based on fluorescence-labeled methylation-sensitive amplified polymorphism (F-MSAP) during aestivation. | Zhao Y et al. | β | 2015 | β |
| Double Xp11.22 deletion including SHROOM4 and CLCN5 associated with severe psychomotor retardation and Dent disease. | Armanet N et al. | β | 2015 | β |
| Duplication Xp11.22-p14 in females: does X-inactivation help in assessing their significance? | Evers C et al. | β | 2015 | β |
| Early onset cardiomyopathy in females with Danon disease. | Hedberg Oldfors C et al. | β | 2015 | β |
| Expanding the phenotypic spectrum of PORCN variants in two males with syndromic microphthalmia. | Brady PD et al. | β | 2015 | β |
| General Theory versus ENA Theory: Comparing Their Predictive Accuracy and Scope. | Ellis L et al. | β | 2015 | β |
| Genomic aberrations of the CACNA2D1 gene in three patients with epilepsy and intellectual disability. | Vergult S et al. | β | 2015 | β |
| Hemophagocytic lymphohistiocytosis in a female patient due to a heterozygous XIAP mutation and skewed X chromosome inactivation. | Holle JR et al. | β | 2015 | β |
| Hyperuricemia and gout due to deficiency of hypoxanthine-guanine phosphoribosyltransferase in female carriers: New insight to differential diagnosis. | Kostalova E et al. | β | 2015 | β |
| Identification of novel informative loci for DNA-based X-inactivation analysis. | Musalkova D et al. | β | 2015 | β |
| MECP2 duplication syndrome in a Chinese family. | Zhang Q et al. | β | 2015 | β |
| Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling. | Snijders Blok L et al. | β | 2015 | β |
| Mutations in NDUFB11, encoding a complex I component of the mitochondrial respiratory chain, cause microphthalmia with linear skin defects syndrome. | van Rahden VA et al. | β | 2015 | β |
| Neurodevelopmental and neurobehavioral characteristics in males and females with CDKL5 duplications. | Szafranski P et al. | β | 2015 | β |
| Next-generation sequencing in X-linked intellectual disability. | Tzschach A et al. | β | 2015 | β |
| Novel DCX mutation-caused lissencephaly in a boy and very mild heterotopia in his mother. | Takeshita S et al. | β | 2015 | β |
| Novel mutations and clinical outcomes of copper-histidine therapy in Menkes disease patients. | Kim JH et al. | β | 2015 | β |
| Novel SMC1A frameshift mutations in children with developmental delay and epilepsy. | Goldstein JH et al. | β | 2015 | β |
| Phenotype-genotype correlations in 17 new patients with an Xp11.23p11.22 microduplication and review of the literature. | Nizon M et al. | β | 2015 | β |
| Phenotype-genotype correlations in hemophiliaΒ A carriers are consistent with the binary role of the phase between F8 and X-chromosome inactivation. | Radic CP et al. | β | 2015 | β |
| Phenotypic profile of expanded NK cells in chronic lymphoproliferative disorders: a surrogate marker for NK-cell clonality. | BΓ‘rcena P et al. | β | 2015 | β |
| Progression rate of myelopathy in X-linked adrenoleukodystrophy heterozygotes. | Habekost CT et al. | β | 2015 | β |
| RPL10 mutation segregating in a family with X-linked syndromic Intellectual Disability. | Thevenon J et al. | β | 2015 | β |
| Severe female hemophilia A patient caused by a nonsense mutation (p.Gln1686X) of F8 gene combined with skewed X-chromosome inactivation. | Zheng J et al. | β | 2015 | β |
| Syndromic X-linked intellectual disability segregating with a missense variant in RLIM. | TΓΈnne E et al. | β | 2015 | β |
| Testis development in the absence of SRY: chromosomal rearrangements at SOX9 and SOX3. | Vetro A et al. | β | 2015 | β |
| The genotypic and phenotypic spectrum of PIGA deficiency. | Tarailo-Graovac M et al. | β | 2015 | β |
| The relationship between skewed X chromosome inactivation and the prognosis of Graves' and Hashimoto's diseases. | Ishido N et al. | β | 2015 | β |
| Twoβgene mutation in a single patient: Biochemical and functional analysis for a correct interpretation of exome results. | Bianco AM et al. | β | 2015 | β |
| Two Siblings With a CDKL5 Mutation: Genotype and Phenotype Evaluation. | Hagebeuk EE et al. | β | 2015 | β |
| Whole exome sequencing in females with autism implicates novel and candidate genes. | Butler MG et al. | β | 2015 | β |
| X Chromosome Inactivation in Opioid Addicted Women. | Vousooghi N et al. | β | 2015 | β |
| Xp21 deletion in female patients with intellectual disability: Two new cases and a review of the literature. | Heide S et al. | β | 2015 | β |
| 20 ans aprΓ¨s: a second mutation in MAOA identified by targeted high-throughput sequencing in a family with altered behavior and cognition. | Piton A et al. | β | 2014 | β |
| 5meCpG epigenetic marks neighboring a primate-conserved core promoter short tandem repeat indicate X-chromosome inactivation. | Machado FB et al. | β | 2014 | β |
| A complex Xp11.22 deletion in a patient with syndromic autism: exploration of FAM120C as a positional candidate gene for autism. | De Wolf V et al. | β | 2014 | β |
| An active isodicentric x chromosome in a case of refractory anaemia with ring sideroblasts associated with marked thrombocytosis. | Morales Camacho RM et al. | β | 2014 | β |
| Androgen receptor CAG repeats, non-random X chromosome inactivation, and loss of heterozygosity at Xq25 in relation to breast cancer risk. | Chen HT et al. | β | 2014 | β |
| A novel mutation in SOX3 polyalanine tract: a case of Kabuki syndrome with combined pituitary hormone deficiency harboring double mutations in MLL2 and SOX3. | Takagi M et al. | β | 2014 | β |
| A preliminary case study of androgen receptor gene polymorphism association with impulsivity in women with alcoholism. | Mettman DJ et al. | β | 2014 | β |
| Brief report: MECP2 mutations in people without Rett syndrome. | Suter B et al. | β | 2014 | β |
| Case Report: Paroxysmal nocturnal hemoglobinuria in a woman heterozygous for G6PD A-. | Perdigones N et al. | β | 2014 | β |
| Characterization of X chromosome inactivation using integrated analysis of whole-exome and mRNA sequencing. | Szelinger S et al. | β | 2014 | β |
| Classic phenotype of Coffin-Lowry syndrome in a female with stimulus-induced drop episodes and a genotype with preserved N-terminal kinase domain. | Rojnueangnit K et al. | β | 2014 | β |
| Clinical features and gene mutational spectrum of CDKL5-related diseases in a cohort of Chinese patients. | Zhao Y et al. | β | 2014 | β |
| Clinical spectrum of females with HCCS mutation: from no clinical signs to a neonatal lethal form of the microphthalmia with linear skin defects (MLS) syndrome. | van Rahden VA et al. | β | 2014 | β |
| Clonality of smooth muscle and fibroblast cell populations isolated from human fibroid and myometrial tissues. | Holdsworth-Carson SJ et al. | β | 2014 | β |
| Correlation between FMR1 expression and clinical phenotype in discordant dichorionic-diamniotic monozygotic twin sisters with the fragile X mutation. | Huang W et al. | β | 2014 | β |
| Definition of minimal duplicated region encompassing the XIAP and STAG2 genes in the Xq25 microduplication syndrome. | Di Benedetto D et al. | β | 2014 | β |
| De novo MECP2 duplications in two females with intellectual disability and unfavorable complete skewed X-inactivation. | Fieremans N et al. | β | 2014 | β |
| Distinctive renal cell tumor simulating atrophic kidney with 2 types of microcalcifications. Report of 3 cases. | Hes O et al. | β | 2014 | β |
| Duplication at Xq13.3-q21.1 with syndromic intellectual disability, a probable role for the ATRX gene. | MartΓnez F et al. | β | 2014 | β |
| Epigenomic and transcriptomic signatures of a Klinefelter syndrome (47,XXY) karyotype in the brain. | Viana J et al. | β | 2014 | β |
| Evaluation of clonal origin of malignant mesothelioma. | Comertpay S et al. | β | 2014 | β |
| Expanding the clinical phenotype of patients with a ZDHHC9 mutation. | Masurel-Paulet A et al. | β | 2014 | β |
| Functional and genetic studies of isolated cells from parathyroid tumors reveal the complex pathogenesis of parathyroid neoplasia. | Shi Y et al. | β | 2014 | β |
| Impact of sex and gonadal steroids on neonatal brain structure. | Knickmeyer RC et al. | β | 2014 | β |
| Indolent T-lymphoblastic proliferation with disseminated multinodal involvement and partial CD33 expression. | Ohgami RS et al. | β | 2014 | β |
| Insight into IKBKG/NEMO locus: report of new mutations and complex genomic rearrangements leading to incontinentia pigmenti disease. | Conte MI et al. | β | 2014 | β |
| Juvenile myelomonocytic leukaemia and Noonan syndrome. | Strullu M et al. | β | 2014 | β |
| Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance. | Kaiser FJ et al. | β | 2014 | β |
| MECP2 duplication phenotype in symptomatic females: report of three further cases. | Novara F et al. | β | 2014 | β |
| MECP2 duplication: possible cause of severe phenotype in females. | Scott Schwoerer J et al. | β | 2014 | β |
| Microphthalmia with Linear Skin Defects (MLS) associated with Autism Spectrum Disorder (ASD) in a patient with Familial 12.9Mb Terminal Xp deletion. | Margari L et al. | β | 2014 | β |
| Monoclonality and cytogenetic abnormalities in hyaline vascular Castleman disease. | Chang KC et al. | β | 2014 | β |
| Mucopolysaccharidosis type II in a female patient with a reciprocal X;9 translocation and skewed X chromosome inactivation. | Lonardo F et al. | β | 2014 | β |
| Mutant astrocytes differentiated from Rett syndrome patients-specific iPSCs have adverse effects on wild-type neurons. | Williams EC et al. | β | 2014 | β |
| Neurological impairment among heterozygote women for X-linked Adrenoleukodystrophy: a case control study on a clinical, neurophysiological and biochemical characteristics. | Habekost CT et al. | β | 2014 | β |
| Nonrandom X chromosome inactivation detection. | Jones JR | β | 2014 | β |
| Role of BRAFV600E in the first preclinical model of multifocal infiltrating myopericytoma development and microenvironment. | Sadow PM et al. | β | 2014 | β |
| Severe and moderate haemophilia A and B in US females. | Di Michele DM et al. | β | 2014 | β |
| Spread of X-chromosome inactivation into autosomal sequences: role for DNA elements, chromatin features and chromosomal domains. | Cotton AM et al. | β | 2014 | β |
| Structural and numerical changes of chromosome X in patients with esophageal atresia. | Brosens E et al. | β | 2014 | β |
| Symptomatic female carriers of Duchenne muscular dystrophy (DMD): genetic and clinical characterization. | Giliberto F et al. | β | 2014 | β |
| Synchronous pleural and peritoneal malignant mesothelioma: a case report and review of literature. | Del Gobbo A et al. | β | 2014 | β |
| The leiomyomatous stroma in renal cell carcinomas is polyclonal and not part of the neoplastic process. | Petersson F et al. | β | 2014 | β |
| Treatment of Lesch-Nyhan disease with S-adenosylmethionine: experience with five young Malaysians, including a girl. | Chen BC et al. | β | 2014 | β |
| Variation in the androgen receptor gene exon 1 CAG repeat correlates with manifestations of autoimmunity in women with lupus. | Olsen NJ et al. | β | 2014 | β |
| X-exome sequencing in Finnish families with intellectual disability--four novel mutations and two novel syndromic phenotypes. | Philips AK et al. | β | 2014 | β |
| X-linked Charcot-Marie-Tooth disease, Arts syndrome, and prelingual non-syndromic deafness form a disease continuum: evidence from a family with a novel PRPS1 mutation. | Synofzik M et al. | β | 2014 | β |
| X-linked congenital ptosis and associated intellectual disability, short stature, microcephaly, cleft palate, digital and genital abnormalities define novel Xq25q26 duplication syndrome. | MΓΈller RS et al. | β | 2014 | β |
| Analysis of expressed SNPs identifies variable extents of expression from the human inactive X chromosome. | Cotton AM et al. | β | 2013 | β |
| Analysis of the effects of rare variants on splicing identifies alterations in GABAA receptor genes in autism spectrum disorder individuals. | Piton A et al. | β | 2013 | β |
| An atypical Dent's disease phenotype caused by co-inheritance of mutations at CLCN5 and OCRL genes. | Addis M et al. | β | 2013 | β |
| A novel phenotype characterized by digital abnormalities, intellectual disability, and short stature in a Mexican family maps to Xp11.4-p11.21. | Barboza-Cerda MC et al. | β | 2013 | β |
| Blue cone monochromatism in a female due to skewed X-inactivation. | Frederiksen AL et al. | β | 2013 | β |
| Canine cutaneous histiocytomas are clonal lesions as defined by X-linked clonality testing. | Delcour NM et al. | β | 2013 | β |
| Classic manifestations of Duchenne dystrophy in a young female patient: a case report. | Leyser M et al. | β | 2013 | β |
| Clinical and neurocognitive characterization of a family with a novel MED12 gene frameshift mutation. | Lesca G et al. | β | 2013 | β |
| Clinical manifestations in female carriers of mucopolysaccharidosis type II: a Spanish cross-sectional study. | GuillΓ©n-Navarro E et al. | β | 2013 | β |
| Clinical Utility Gene Card for: incontinentia pigmenti. | Fusco F et al. | β | 2013 | β |
| Clonality analysis suggests that STK11 gene mutations are involved in progression of lobular endocervical glandular hyperplasia (LEGH) to minimal deviation adenocarcinoma (MDA). | Takatsu A et al. | β | 2013 | β |
| Comparison of X-chromosome inactivation in Duchenne muscle/myocardium-manifesting carriers, non-manifesting carriers and related daughters. | Viggiano E et al. | β | 2013 | β |
| Deep intronic 'mutations' cause hemophilia A: application of next generation sequencing in patients without detectable mutation in F8 cDNA. | Pezeshkpoor B et al. | β | 2013 | β |
| Deletion Xq27.3q28 in female patient with global developmental delays and skewed X-inactivation. | Marshall LS et al. | β | 2013 | β |
| De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood. | Saitsu H et al. | β | 2013 | β |
| Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing. | Jiang YH et al. | β | 2013 | β |
| Disruption of HDX gene in premature ovarian failure. | Okten G et al. | β | 2013 | β |
| Early-onset epileptic encephalopathy in a girl carrying a truncating mutation of the ARX gene: rethinking the ARX phenotype in females. | Bettella E et al. | β | 2013 | β |
| Epigenetics: the link between nature and nurture. | Tammen SA et al. | β | 2013 | β |
| Exome sequencing identifies UPF3B as the causative gene for a Chinese non-syndrome mental retardation pedigree. | Xu X et al. | β | 2013 | β |
| Familial cases of a submicroscopic Xp22.2 deletion: genotype-phenotype correlation in microphthalmia with linear skin defects syndrome. | Vergult S et al. | β | 2013 | β |
| Familial skewed x chromosome inactivation in adrenoleukodystrophy manifesting heterozygotes from a Chinese pedigree. | Wang Z et al. | β | 2013 | β |
| Genetic and clinical specificity of 26 symptomatic carriers for dystrophinopathies at pediatric age. | Mercier S et al. | β | 2013 | β |
| Heterozygous genetic variations of FOXP3 in Xp11.23 elevate breast cancer risk in Chinese population via skewed X-chromosome inactivation. | Zheng J et al. | β | 2013 | β |
| High frequency of the X-chromosome inactivation in young female patients with high-grade glioma. | Li G et al. | β | 2013 | β |
| Histopathologcial and clonal study of combined lobular and ductal carcinoma of the breast. | Tazaki E et al. | β | 2013 | β |
| How has the study of the human placenta aided our understanding of partially methylated genes? | Schroeder DI et al. | β | 2013 | β |
| Hypermethylation of the CpG island near the G4C2 repeat in ALS with a C9orf72 expansion. | Xi Z et al. | β | 2013 | β |
| Identification of genuine primary pulmonary NK cell lymphoma via clinicopathologic observation and clonality assay. | Gong L et al. | β | 2013 | β |
| Intron 22 homologous regions are implicated in exons 1-22 duplications of the F8 gene. | Lannoy N et al. | β | 2013 | β |
| Microduplication of 15q13.3 and Xq21.31 in a family with Tourette syndrome and comorbidities. | Melchior L et al. | β | 2013 | β |
| MLL2 and KDM6A mutations in patients with Kabuki syndrome. | Miyake N et al. | β | 2013 | β |
| Molecular oncogenesis of craniopharyngioma: current and future strategies for the development of targeted therapies. | Hussain I et al. | β | 2013 | β |
| Novel mutations in cyclin-dependent kinase-like 5 (CDKL5) gene in Indian cases of Rett syndrome. | Das DK et al. | β | 2013 | β |
| Ornithine transcarbamylase deficiency combined with type 1 diabetes mellitus - a challenge in clinical and dietary management. | GrΓΌnert SC et al. | β | 2013 | β |
| Partial PLP1 deletion causing X-linked dominant spastic paraplegia type 2. | Matsufuji M et al. | β | 2013 | β |
| PCDH19-related female-limited epilepsy: further details regarding early clinical features and therapeutic efficacy. | Higurashi N et al. | β | 2013 | β |
| PLP1 duplication at the breakpoint regions of an apparently balanced t(X;22) translocation causes Pelizaeus-Merzbacher disease in a girl. | Fonseca AC et al. | β | 2013 | β |
| Skewed X-chromosome inactivation in patients with esophageal carcinoma. | Li G et al. | β | 2013 | β |
| Skewed X-inactivation patterns in ageing healthy and myelodysplastic haematopoiesis determined by a pyrosequencing based transcriptional clonality assay. | Mossner M et al. | β | 2013 | β |
| Skewing of female X-chromosome inactivation: an epigenetic risk factor for kidney transplantation outcome. | Simmonds MJ et al. | β | 2013 | β |
| Spectrum of MECP2 gene mutations in a cohort of Indian patients with Rett syndrome: report of two novel mutations. | Das DK et al. | β | 2013 | β |
| Systematic molecular and cytogenetic screening of 100 patients with marfanoid syndromes and intellectual disability. | Callier P et al. | β | 2013 | β |
| Telomere phenotypes in females with heterozygous mutations in the dyskeratosis congenita 1 (DKC1) gene. | Alder JK et al. | β | 2013 | β |
| The role of genetic and autoimmune factors in premature ovarian failure. | Shamilova NN et al. | β | 2013 | β |
| Unusual presentation of haemophilia in two paediatric patients. | De Luca M et al. | β | 2013 | β |
| X-linked glycogen storage disease IXa manifested in a female carrier due to skewed X chromosome inactivation. | Cho SY et al. | β | 2013 | β |
| Xq25 duplications encompassing GRIA3 and STAG2 genes in two families convey recognizable X-linked intellectual disability with distinctive facial appearance. | Philippe A et al. | β | 2013 | β |
| A family of oculofaciocardiodental syndrome (OFCD) with a novel BCOR mutation and genomic rearrangements involving NHS. | Kondo Y et al. | β | 2012 | β |
| Age-dependent skewing of X chromosome inactivation appears delayed in centenarians' offspring. Is there a role for allelic imbalance in healthy aging and longevity? | Gentilini D et al. | β | 2012 | β |
| A novel X-linked disorder with developmental delay and autistic features. | Kaya N et al. | β | 2012 | β |
| A partial MECP2 duplication in a mildly affected adult male: a putative role for the 3' untranslated region in the MECP2 duplication phenotype. | Hanchard NA et al. | β | 2012 | β |
| CAG repeat length in androgen receptor gene and male infertility in Egyptian patients. | Mosaad YM et al. | β | 2012 | β |
| CAG repeat polymorphism in androgen receptor gene is not directly associated with polycystic ovary syndrome but influences serum testosterone levels. | Skrgatic L et al. | β | 2012 | β |
| Clinical expression of Menkes disease in females with normal karyotype. | MΓΈller LB et al. | β | 2012 | β |
| Clinical, molecular and biochemical characterization of nine Spanish families with Conradi-HΓΌnermann-Happle syndrome: new insights into X-linked dominant chondrodysplasia punctata with a comprehensive review of the literature. | CaΓ±ueto J et al. | β | 2012 | β |
| Copy-number gains of HUWE1 due to replication- and recombination-based rearrangements. | Froyen G et al. | β | 2012 | β |
| Copy number variations in patients with electrical status epilepticus in sleep. | Kevelam SH et al. | β | 2012 | β |
| Deletion of CUL4B leads to concordant phenotype in a monozygotic twin pair. | Ravn K et al. | β | 2012 | β |
| Deletion of the AP1S2 gene in a child with psychomotor delay and hypotonia. | Ballarati L et al. | β | 2012 | β |
| Electroclinical pattern in MECP2 duplication syndrome: eight new reported cases and review of literature. | Vignoli A et al. | β | 2012 | β |
| Epigenetics: a way to understand the origin and biology of testicular germ cell tumors. | Okamoto K | β | 2012 | β |
| Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA. | Haack TB et al. | β | 2012 | β |
| F8 gene dosage defects in atypical patients with severe haemophilia A. | VenceslΓ‘ Γ et al. | β | 2012 | β |
| HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle. | Deardorff MA et al. | β | 2012 | β |
| Identification of genomic deletions spanning the PCDH19 gene in two unrelated girls with intellectual disability and seizures. | Vincent AK et al. | β | 2012 | β |
| IL1RAPL1 gene deletion as a cause of X-linked intellectual disability and dysmorphic features. | Youngs EL et al. | β | 2012 | β |
| Interpretation of clinical relevance of X-chromosome copy number variations identified in a large cohort of individuals with cognitive disorders and/or congenital anomalies. | Willemsen MH et al. | β | 2012 | β |
| Is double inactivation of the Nf1 gene responsible for the development of congenital pseudarthrosis of the tibia associated with NF1? | Lee SM et al. | β | 2012 | β |
| Juxtaposition of heterochromatic and euchromatic regions by chromosomal translocation mediates a heterochromatic long-range position effect associated with a severe neurological phenotype. | Finelli P et al. | β | 2012 | β |
| Malignant perivascular epithelioid cell tumor in children: description of a case and review of the literature. | Alaggio R et al. | β | 2012 | β |
| Methylation of AR locus does not always reflect X chromosome inactivation state. | Swierczek SI et al. | β | 2012 | β |
| Molecular characteristics of Chinese patients with Rett syndrome. | Zhang X et al. | β | 2012 | β |
| Molecular screening of MECP2 gene in a cohort of Lebanese patients suspected with Rett syndrome: report on a mild case with a novel indel mutation. | Corbani S et al. | β | 2012 | β |
| Multigeneration Inheritance through Fertile XX Carriers of an NR0B1 (DAX1) Locus Duplication in a Kindred of Females with Isolated XY Gonadal Dysgenesis. | Barbaro M et al. | β | 2012 | β |
| Mutations in MECP2 exon 1 in classical Rett patients disrupt MECP2_e1 transcription, but not transcription of MECP2_e2. | Gianakopoulos PJ et al. | β | 2012 | β |
| Myopathy in a woman and her daughter associated with a novel splice site MTM1 mutation. | Hedberg C et al. | β | 2012 | β |
| Patterns of placental development evaluated by X chromosome inactivation profiling provide a basis to evaluate the origin of epigenetic variation. | PeΓ±aherrera MS et al. | β | 2012 | β |
| Preferential expression of mutant ABCD1 allele is common in adrenoleukodystrophy female carriers but unrelated to clinical symptoms. | Salsano E et al. | β | 2012 | β |
| Prognostic value of X-chromosome inactivation in symptomatic female carriers of dystrophinopathy. | Juan-Mateu J et al. | β | 2012 | β |
| Recurrent mutations in the CDKL5 gene: genotype-phenotype relationships. | Bahi-Buisson N et al. | β | 2012 | β |
| Screening for the presence of FMR1 premutation alleles in a Spanish population with fibromyalgia. | Martorell L et al. | β | 2012 | β |
| Searching for Copy Number Changes in Nonsyndromic X-Linked Intellectual Disability. | Utine GE et al. | β | 2012 | β |
| Skewed X inactivation and survival: a 13-year follow-up study of elderly twins and singletons. | Mengel-From J et al. | β | 2012 | β |
| Small genomic rearrangements involving FMR1 support the importance of its gene dosage for normal neurocognitive function. | Nagamani SC et al. | β | 2012 | β |
| Sporadic male patients with intellectual disability: contribution of X-chromosome copy number variants. | Isrie M et al. | β | 2012 | β |
| Targeting of >1.5 Mb of human DNA into the mouse X chromosome reveals presence of cis-acting regulators of epigenetic silencing. | Yang C et al. | β | 2012 | β |
| Tissue-specific differences in the proportion of mosaic large NF1 deletions are suggestive of a selective growth advantage of hematopoietic del(+/-) stem cells. | Roehl AC et al. | β | 2012 | β |
| X-chromosome inactivation in rett syndrome human induced pluripotent stem cells. | Cheung AY et al. | β | 2012 | β |
| X chromosome inactivation in women with alcoholism. | Manzardo AM et al. | β | 2012 | β |
| X-chromosome inactivation pattern analysis for the assessment of cell clonality in cats. | Mochizuki H et al. | β | 2012 | β |
| Xq28 duplications including MECP2 in five females: Expanding the phenotype toΒ severe mental retardation. | Bijlsma EK et al. | β | 2012 | β |
| A family with Xq22.3q25 interstitial deletion and normal ovarian function. | Kuan LC et al. | β | 2011 | β |
| A history of the discovery of random x chromosome inactivation in the human female and its significance. | Balderman S et al. | β | 2011 | β |
| A longitudinal twin study of skewed X chromosome-inactivation. | Wong CC et al. | β | 2011 | β |
| A mild neurofibromatosis type 1 phenotype produced by the combination of the benign nature of a leaky NF1-splice mutation and the presence of a complex mosaicism. | FernΓ‘ndez-RodrΓguez J et al. | β | 2011 | β |
| A new 17p13.3 microduplication including the PAFAH1B1 and YWHAE genes resulting from an unbalanced X;17 translocation. | Hyon C et al. | β | 2011 | β |
| A novel frameshift mutation in UPF3B identified in brothers affected with childhood onset schizophrenia and autism spectrum disorders. | Addington AM et al. | β | 2011 | β |
| A novel Xp22.11 deletion causing a syndrome of craniosynostosis and periventricular nodular heterotopia. | van Kogelenberg M et al. | β | 2011 | β |
| Apparent neotelomere in a 46,X,del(X)(qterβp11.2:)/46,X,rea(X)(qterβp11.2::q21.2βqter) novel mosaicism: review of 34 females with a recombinant-like dup(Xq) chromosome. | VΓ‘squez-VelΓ‘squez AI et al. | β | 2011 | β |
| ARX polyalanine expansions are highly implicated in familial cases of mental retardation with infantile epilepsy and/or hand dystonia. | CossΓ©e M et al. | β | 2011 | β |
| A translocation between Xq21.33 and 22q13.33 causes an intragenic SHANK3 deletion in a woman with Phelan-McDermid syndrome and hypergonadotropic hypogonadism. | Misceo D et al. | β | 2011 | β |
| Breakpoint determination of X;autosome balanced translocations in four patients with premature ovarian failure. | Nishimura-Tadaki A et al. | β | 2011 | β |
| Carrier woman of Duchenne muscular dystrophy mimicking inflammatory myositis. | Yoon J et al. | β | 2011 | β |
| Cell cloning-based transcriptome analysis in cyclin-dependent kinase-like 5 mutation patients with severe epileptic encephalopathy. | Nectoux J et al. | β | 2011 | β |
| Cerebral dysgenesis does not exclude OFD I syndrome. | Thauvin-Robinet C et al. | β | 2011 | β |
| Chronic hemolytic anemia is associated with a new glucose-6-phosphate dehydrogenase in-frame deletion in an older woman. | Manco L et al. | β | 2011 | β |
| Clinical and molecular description of a Wilms tumor in a patient with tuberous sclerosis complex. | Spreafico F et al. | β | 2011 | β |
| Clinical features and respiratory complications in Myhre syndrome. | McGowan R et al. | β | 2011 | β |
| Clinical features and X-inactivation in females heterozygous for creatine transporter defect. | van de Kamp JM et al. | β | 2011 | β |
| Clonal overgrowth of esophageal smooth muscle cells in diffuse leiomyomatosis-Alport syndrome caused by partial deletion in COL4A5 and COL4A6 genes. | Oohashi T et al. | β | 2011 | β |
| Common structural features characterize interstitial intrachromosomal Xp and 18q triplications. | Giorda R et al. | β | 2011 | β |
| Copy number gain at Xp22.31 includes complex duplication rearrangements and recurrent triplications. | Liu P et al. | β | 2011 | β |
| Corpus callosum agenesis, severe mental retardation, epilepsy, and dyskinetic quadriparesis due to a novel mutation in the homeodomain of ARX. | Conti V et al. | β | 2011 | β |
| Decreased dyskerin levels as a mechanism of telomere shortening in X-linked dyskeratosis congenita. | Parry EM et al. | β | 2011 | β |
| Deletion in Xp22.11: PTCHD1 is a candidate gene for X-linked intellectual disability with or without autism. | Filges I et al. | β | 2011 | β |
| De novo interstitial triplication of MECP2 in a girl with neurodevelopmental disorder and random X chromosome inactivation. | Mayo S et al. | β | 2011 | β |
| De novo MECP2 duplication in two females with random X-inactivation and moderate mental retardation. | Grasshoff U et al. | β | 2011 | β |
| Detection of long-term progression of myocardial fibrosis in Duchenne muscular dystrophy in an affected family: a cardiovascular magnetic resonance study. | Walcher T et al. | β | 2011 | β |
| Discordance for retinitis pigmentosa in two monozygotic twin pairs. | Berghmans LV et al. | β | 2011 | β |
| DNA methylation assay for X-chromosome inactivation in female human iPS cells. | Kiedrowski LA et al. | β | 2011 | β |
| DXA measurements in Rett syndrome reveal small bones with low bone mass. | Roende G et al. | β | 2011 | β |
| Epigenetic investigation of variably X chromosome inactivated genes in monozygotic female twins discordant for primary biliary cirrhosis. | Mitchell MM et al. | β | 2011 | β |
| Familial Simpson-Golabi-Behmel syndrome: studies of X-chromosome inactivation and clinical phenotypes in two female individuals with GPC3 mutations. | Yano S et al. | β | 2011 | β |
| Familial skewed X-chromosome inactivation linked to a component of the cohesin complex, SA2. | Renault NK et al. | β | 2011 | β |
| Favorably skewed X-inactivation accounts for neurological sparing in female carriers of Menkes disease. | Desai V et al. | β | 2011 | β |
| Female Hunter syndrome caused by a single mutation and familial XCI skewing: implications for other X-linked disorders. | Kloska A et al. | β | 2011 | β |
| Four sisters compound heterozygotes for the pre- and full mutation in fragile X syndrome and a complete inactivation of X-functional chromosome: implications for genetic counseling. | Martorell L et al. | β | 2011 | β |
| Genetic and molecular analysis of a new unbalanced X;18 rearrangement: localization of the diminished ovarian reserve disease locus in the distal Xq POF1 region. | Fusco F et al. | β | 2011 | β |
| Genomic and transcriptomic analyses distinguish classic Rett and Rett-like syndrome and reveals shared altered pathways. | Colak D et al. | β | 2011 | β |
| Genotype and phenotype in Klinefelter syndrome - impact of androgen receptor polymorphism and skewed X inactivation. | Bojesen A et al. | β | 2011 | β |
| High-resolution methylation polymerase chain reaction for fragile X analysis: evidence for novel FMR1 methylation patterns undetected in Southern blot analyses. | Chen L et al. | β | 2011 | β |
| Increased transactivation associated with SOX3 polyalanine tract deletion in a patient with hypopituitarism. | Alatzoglou KS et al. | β | 2011 | β |
| Int22h-1/int22h-2-mediated Xq28 rearrangements: intellectual disability associated with duplications and in utero male lethality with deletions. | El-Hattab AW et al. | β | 2011 | β |
| Intragenic deletions of IL1RAPL1: Report of two cases and review of the literature. | Behnecke A et al. | β | 2011 | β |
| Inverted genomic segments and complex triplication rearrangements are mediated by inverted repeats in the human genome. | Carvalho CM et al. | β | 2011 | β |
| iPS cells to model CDKL5-related disorders. | Amenduni M et al. | β | 2011 | β |
| Isogenic pairs of wild type and mutant induced pluripotent stem cell (iPSC) lines from Rett syndrome patients as in vitro disease model. | Ananiev G et al. | β | 2011 | β |
| Molecular characterization of female hemophilia A by multiplex ligation-dependent probe amplification analysis and X-chromosome inactivation study. | Song MJ et al. | β | 2011 | β |
| Novel intragenic deletion in OPHN1 in a family causing XLMR with cerebellar hypoplasia and distinctive facial appearance. | Al-Owain M et al. | β | 2011 | β |
| Pathogenic role of the X-linked cyclin-dependent kinase-like 5 and aristaless-related homeobox genes in epileptic encephalopathy of unknown etiology with onset in the first year of life. | Sartori S et al. | β | 2011 | β |
| Phenotype expression in women with CMT1X. | Siskind CE et al. | β | 2011 | β |
| PHF6 Deletions May Cause Borjeson-Forssman-Lehmann Syndrome in Females. | Berland S et al. | β | 2011 | β |
| Rett syndrome with and without detected MECP2 mutations: an attempt to redefine phenotypes. | Temudo T et al. | β | 2011 | β |
| S100B and neurofibromin immunostaining and X-inactivation patterns of laser-microdissected cells indicate a multicellular origin of some NF1-associated neurofibromas. | Tucker T et al. | β | 2011 | β |
| Second messenger role for Mg2+ revealed by human T-cell immunodeficiency. | Li FY et al. | β | 2011 | β |
| The first case described: monozygotic twin sisters with the fragile X premutation but with a different phenotype for premature ovarian failure. | Johnston-MacAnanny EB et al. | β | 2011 | β |
| The odontogenic keratocyst: a cyst, or a cystic neoplasm? | Li TJ et al. | β | 2011 | β |
| Three new loci for determining x chromosome inactivation patterns. | Bertelsen B et al. | β | 2011 | β |
| Two new Rett syndrome families and review of the literature: expanding the knowledge of MECP2 frameshift mutations. | Ravn K et al. | β | 2011 | β |
| X inactivation testing for identifying a non-syndromic X-linked mental retardation gene. | Yonath H et al. | β | 2011 | β |
| A model for neural development and treatment of Rett syndrome using human induced pluripotent stem cells. | Marchetto MC et al. | β | 2010 | β |
| A mother and daughter with the p.R443X mutation of mucopolysaccharidosis type II: Genotype and phenotype analysis. | Sohn YB et al. | β | 2010 | β |
| Analysis of the parental origin of de novo MECP2 mutations and X chromosome inactivation in 24 sporadic patients with Rett syndrome in China. | Zhu X et al. | β | 2010 | β |
| A novel mutation in the DLG3 gene encoding the synapse-associated protein 102 (SAP102) causes non-syndromic mental retardation. | Zanni G et al. | β | 2010 | β |
| A novel X-linked multiple congenital anomaly syndrome associated with an EBP mutation. | Furtado LV et al. | β | 2010 | β |
| CDKL5 truncation due to a t(X;2)(p22.1;p25.3) in a girl with X-linked infantile spasm syndrome. | CΓ³rdova-Fletes C et al. | β | 2010 | β |
| Cell cloning-based transcriptome analysis in Rett patients: relevance to the pathogenesis of Rett syndrome of new human MeCP2 target genes. | Nectoux J et al. | β | 2010 | β |
| Clinical and genetic characterization of manifesting carriers of DMD mutations. | Soltanzadeh P et al. | β | 2010 | β |
| Clinical and molecular characterization of overlapping interstitial Xp21-p22 duplications in two unrelated individuals. | Thorson L et al. | β | 2010 | β |
| Clonal hematopoiesis in Philadelphia chromosome-negative bone marrow cells of chronic myeloid leukemia patients receiving dasatinib. | Paquette RL et al. | β | 2010 | β |
| Clonality analysis of giant cell lesions of the jaws. | Amaral FR et al. | β | 2010 | β |
| Clonal status and clinicopathological features of Langerhans cell histiocytosis. | Gong L et al. | β | 2010 | β |
| Clonal status and clinicopathological observation of cervical minimal deviation adenocarcinoma. | Gong L et al. | β | 2010 | β |
| Delineation of a 1.65 Mb critical region for hemihyperplasia and digital anomalies on Xq25. | Ricks CB et al. | β | 2010 | β |
| Detection of clinically relevant exonic copy-number changes by array CGH. | Boone PM et al. | β | 2010 | β |
| Disruption at the PTCHD1 Locus on Xp22.11 in Autism spectrum disorder and intellectual disability. | Noor A et al. | β | 2010 | β |
| Distinguishing myelodysplastic syndromes (MDS) from idiopathic cytopenia of undetermined significance (ICUS): HUMARA unravels clonality in a subgroup of patients. | Schroeder T et al. | β | 2010 | β |
| DNA methylation analysis of a de novo balanced X;13 translocation in a girl with abnormal phenotype: evidence for functional duplication of the whole short arm of the X chromosome. | Myszka A et al. | β | 2010 | β |
| Epileptic encephalopathy in a girl with an interstitial deletion of Xp22 comprising promoter and exon 1 of the CDKL5 gene. | Bahi-Buisson N et al. | β | 2010 | β |
| Four novel RSK2 mutations in females with Coffin-Lowry syndrome. | Jurkiewicz D et al. | β | 2010 | β |
| Four unrelated patients with Lubs X-linked mental retardation syndrome and different Xq28 duplications. | Bartsch O et al. | β | 2010 | β |
| Identification of copy number variants in miscarriages from couples with idiopathic recurrent pregnancy loss. | Rajcan-Separovic E et al. | β | 2010 | β |
| Inter- and intra-individual variation in allele-specific DNA methylation and gene expression in children conceived using assisted reproductive technology. | Turan N et al. | β | 2010 | β |
| Interstitial microduplication of Xp22.31: Causative of intellectual disability or benign copy number variant? | Li F et al. | β | 2010 | β |
| Molecular cytogenetic definition of a translocation t(X;15) associated with premature ovarian failure. | Bertini V et al. | β | 2010 | β |
| Mutations of the UPF3B gene, which encodes a protein widely expressed in neurons, are associated with nonspecific mental retardation with or without autism. | Laumonnier F et al. | β | 2010 | β |
| Novel association of severe neonatal encephalopathy and Hirschsprung disease in a male with a duplication at the Xq28 region. | FernΓ‘ndez RM et al. | β | 2010 | β |
| Novel de novo PCDH19 mutations in three unrelated females with epilepsy female restricted mental retardation syndrome. | Jamal SM et al. | β | 2010 | β |
| Novel genetic aspects of Klinefelter's syndrome. | TΓΌttelmann F et al. | β | 2010 | β |
| Novel missense mutations in the ubiquitination-related gene UBE2A cause a recognizable X-linked mental retardation syndrome. | Budny B et al. | β | 2010 | β |
| Pathological and molecular characteristics distinguishing contralateral metastatic from new primary breast cancer. | Banelli B et al. | β | 2010 | β |
| Pathophysiology and biology of peritoneal carcinomatosis. | Kusamura S et al. | β | 2010 | β |
| Preliminary evidence of a noncausal association between the X-chromosome inactivation pattern and thyroid autoimmunity: a twin study. | Brix TH et al. | β | 2010 | β |
| Screening for clonal hematopoiesis as a predictive marker for development of therapy-related myeloid neoplasia (t-MN) following neoadjuvant therapy for breast cancer: a Southwest Oncology Group study (S0012). | Slovak ML et al. | β | 2010 | β |
| Severe Alport syndrome in a young woman caused by a t(X;1)(q22.3;p36.32) balanced translocation. | Iijima K et al. | β | 2010 | β |
| Severe hemophilia A in a Japanese female caused by an F8-intron 22 inversion associated with skewed X chromosome inactivation. | Miyawaki Y et al. | β | 2010 | β |
| Severe X-linked mitochondrial encephalomyopathy associated with a mutation in apoptosis-inducing factor. | Ghezzi D et al. | β | 2010 | β |
| Sex-specific association of X-linked Toll-like receptor 7 (TLR7) with male systemic lupus erythematosus. | Shen N et al. | β | 2010 | β |
| Skewed X chromosome inactivation may be not associated with premature ovarian failure. | Pu D et al. | β | 2010 | β |
| Systematic molecular genetic analysis of congenital sideroblastic anemia: evidence for genetic heterogeneity and identification of novel mutations. | Bergmann AK et al. | β | 2010 | β |
| The common NF-ΞΊB essential modulator (NEMO) gene rearrangement in Korean patients with incontinentia pigmenti. | Song MJ et al. | β | 2010 | β |
| The idic(X)(q13) in myeloid malignancies: breakpoint clustering in segmental duplications and association with TET2 mutations. | Paulsson K et al. | β | 2010 | β |
| UBE2A deficiency syndrome: Mild to severe intellectual disability accompanied by seizures, absent speech, urogenital, and skin anomalies in male patients. | de Leeuw N et al. | β | 2010 | β |
| X chromosome inactivation does not define the development of premature ovarian failure in fragile X premutation carriers. | Spath MA et al. | β | 2010 | β |
| X-inactivation of HSD17B10 revealed by cDNA analysis in two female patients with 17Ξ²-hydroxysteroid dehydrogenase 10 deficiency. | GarcΓa-Villoria J et al. | β | 2010 | β |
| 46,X,del(X)(q13) Turner's syndrome women with systemic lupus erythematosus in a pedigree multiplex for SLE. | Cooney CM et al. | β | 2009 | β |
| Aberrant GRIA3 transcripts with multi-exon duplications in a family with X-linked mental retardation. | Bonnet C et al. | β | 2009 | β |
| A large X-chromosomal deletion is associated with microphthalmia with linear skin defects (MLS) and amelogenesis imperfecta (XAI). | Hobson GM et al. | β | 2009 | β |
| Alu-specific microhomology-mediated deletions in CDKL5 in females with early-onset seizure disorder. | Erez A et al. | β | 2009 | β |
| Analysis of skewed X-chromosome inactivation in females with rheumatoid arthritis and autoimmune thyroid diseases. | Chabchoub G et al. | β | 2009 | β |
| Analysis of the progression of intraductal proliferative lesions in the breast by PCR-based clonal assay. | Yu Q et al. | β | 2009 | β |
| A novel CDKL5 mutation in a 47,XXY boy with the early-onset seizure variant of Rett syndrome. | Sartori S et al. | β | 2009 | β |
| Autism and other neuropsychiatric symptoms are prevalent in individuals with MeCP2 duplication syndrome. | Ramocki MB et al. | β | 2009 | β |
| CHM gene molecular analysis and X-chromosome inactivation pattern determination in two families with choroideremia. | Perez-Cano HJ et al. | β | 2009 | β |
| Clonal nature of odontogenic tumours. | Gomes CC et al. | β | 2009 | β |
| Clonal status and clinicopathological feature of Erdheim-Chester disease. | Gong L et al. | β | 2009 | β |
| Complex segmental duplications mediate a recurrent dup(X)(p11.22-p11.23) associated with mental retardation, speech delay, and EEG anomalies in males and females. | Giorda R et al. | β | 2009 | β |
| Distal Xq duplication and functional Xq disomy. | Sanlaville D et al. | β | 2009 | β |
| Dosage-dependent severity of the phenotype in patients with mental retardation due to a recurrent copy-number gain at Xq28 mediated by an unusual recombination. | Vandewalle J et al. | β | 2009 | β |
| Further clinical delineation of the BΓΆrjeson-Forssman-Lehmann syndrome in patients with PHF6 mutations. | Carter MT et al. | β | 2009 | β |
| Gender bias in autoimmune diseases: X chromosome inactivation in women with multiple sclerosis. | Knudsen GP | β | 2009 | β |
| Gene expression changes in normal haematopoietic cells. | Lionberger JM et al. | β | 2009 | β |
| Increased frequency of extremely skewed X chromosome inactivation in juvenile idiopathic arthritis. | Uz E et al. | β | 2009 | β |
| Lessons from BWS twins: complex maternal and paternal hypomethylation and a common source of haematopoietic stem cells. | Bliek J et al. | β | 2009 | β |
| Molecular characterization of co-occurring Duchenne muscular dystrophy and X-linked oculo-facio-cardio-dental syndrome in a girl. | Jiang YH et al. | β | 2009 | β |
| Molecular mechanisms underlying hemophilia A phenotype in seven females. | Pavlova A et al. | β | 2009 | β |
| No link between X chromosome inactivation pattern and simple goiter in females: evidence from a twin study. | Brix TH et al. | β | 2009 | β |
| Non-random X chromosome inactivation in Aicardi syndrome. | Eble TN et al. | β | 2009 | β |
| Novel mutations in the CDKL5 gene, predicted effects and associated phenotypes. | Russo S et al. | β | 2009 | β |
| Phenotype and genotype in females with POU3F4 mutations. | Marlin S et al. | β | 2009 | β |
| Premature ovarian failure and androgen receptor gene CAG repeat lengths weighted by X chromosome inactivation patterns. | Sugawa F et al. | β | 2009 | β |
| Premature ovarian failure and fragile X female premutation carriers: no evidence for a skewed X-chromosome inactivation pattern. | Rodriguez-Revenga L et al. | β | 2009 | β |
| Skewed X chromosome inactivation in diploid and triploid female human embryonic stem cells. | Liu W et al. | β | 2009 | β |
| Skewing of X-inactivation ratios in blood cells of aging women is confirmed by independent methodologies. | Busque L et al. | β | 2009 | β |
| Targeted loss of Arx results in a developmental epilepsy mouse model and recapitulates the human phenotype in heterozygous females. | Marsh E et al. | β | 2009 | β |
| Telomere length is severely and similarly reduced in JAK2V617F-positive and -negative myeloproliferative neoplasms. | Bernard L et al. | β | 2009 | β |
| The clinicopathologic observation, c-KIT gene mutation and clonal status of gastrointestinal stromal tumor in the sacrum. | Gong L et al. | β | 2009 | β |
| The first missense mutation causing Rett syndrome specifically affecting the MeCP2_e1 isoform. | Fichou Y et al. | β | 2009 | β |
| The Xp contiguous deletion syndrome and autism. | Shinawi M et al. | β | 2009 | β |
| Two brothers with a microduplication including the MECP2 gene: rapid head growth in infancy and resolution of susceptibility to infection. | Prescott TE et al. | β | 2009 | β |
| Use of X-chromosome inactivation pattern and laser microdissection to determine the clonal origin of focal nodular hyperplasia of the liver. | Gong L et al. | β | 2009 | β |
| Very early premature ovarian failure in two sisters compound heterozygous for the FMR1 premutation. | Van Esch H et al. | β | 2009 | β |
| X chromosome inactivation in clinical practice. | Orstavik KH | β | 2009 | β |
| X Chromosome inactivation pattern is not associated with interindividual variations in thyroid volume: a study of euthyroid Danish female twins. | Brix TH et al. | β | 2009 | β |
| A loss-of-function mutation in the FTSJ1 gene causes nonsyndromic X-linked mental retardation in a Japanese family. | Takano K et al. | β | 2008 | β |
| Alterations in the expression, structure and function of progesterone receptor membrane component-1 (PGRMC1) in premature ovarian failure. | Mansouri MR et al. | β | 2008 | β |
| Androgen receptor gene CAG repeat polymorphism and X-chromosome inactivation in children with premature adrenarche. | Lappalainen S et al. | β | 2008 | β |
| A new missense mutation found in the FLNA gene in a family with bilateral periventricular nodular heterotopia (BPNH) alters the splicing process. | Tsuneda SS et al. | β | 2008 | β |
| Association of extremely skewed X-chromosome inactivation with Taiwanese women presenting with recurrent pregnancy loss. | Kuo PL et al. | β | 2008 | β |
| Autism-associated familial microdeletion of Xp11.22. | Qiao Y et al. | β | 2008 | β |
| BMP15 mutations in XX gonadal dysgenesis and premature ovarian failure. | Ledig S et al. | β | 2008 | β |
| CDKL5 disruption by t(X;18) in a girl with West syndrome. | Nishimura A et al. | β | 2008 | β |
| Clinical, cellular, and neuropathological consequences of AP1S2 mutations: further delineation of a recognizable X-linked mental retardation syndrome. | Borck G et al. | β | 2008 | β |
| Clonal status of fibrous dysplasia. | Gong L et al. | β | 2008 | β |
| Comparison of X-chromosome inactivation patterns in multiple tissues from human females. | Bittel DC et al. | β | 2008 | β |
| Contiguous gene syndrome due to a maternally inherited 8.41 Mb distal deletion of chromosome band Xp22.3 in a boy with short stature, ichthyosis, epilepsy, mental retardation, cerebral cortical heterotopias and Dandy-Walker malformation. | van Steensel MA et al. | β | 2008 | β |
| Cytogenetic and molecular studies of an X;21 translocation previously diagnosed as complete monosomy 21. | Cardoso LC et al. | β | 2008 | β |
| Differential methylation of the X-chromosome is a possible source of discordance for bipolar disorder female monozygotic twins. | Rosa A et al. | β | 2008 | β |
| Different-sized duplications of Xq28, including MECP2, in three males with mental retardation, absent or delayed speech, and recurrent infections. | Smyk M et al. | β | 2008 | β |
| Dissecting the molecular mechanisms in craniofrontonasal syndrome: differential mRNA expression of mutant EFNB1 and the cellular mosaic. | Wieland I et al. | β | 2008 | β |
| Dosage compensation of the mammalian X chromosome influences the phenotypic variability of X-linked dominant male-lethal disorders. | Morleo M et al. | β | 2008 | β |
| Estrogen receptor alpha gene polymorphisms are associated with idiopathic premature ovarian failure. | Bretherick KL et al. | β | 2008 | β |
| Extreme clonality in lymphoblastoid cell lines with implications for allele specific expression analyses. | Plagnol V et al. | β | 2008 | β |
| Female haemophilia A caused by skewed X inactivation. | Knobe KE et al. | β | 2008 | β |
| Female monozygotic twins discordant for hemophilia A due to nonrandom X-chromosome inactivation. | Bennett CM et al. | β | 2008 | β |
| Fertility in a i(Xq) Klinefelter patient: importance of XIST expression level determined by qRT-PCR in ruling out Klinefelter cryptic mosaicism as cause of oligozoospermia. | Stabile M et al. | β | 2008 | β |
| Functional inactivation of the WTX gene is not a frequent event in Wilms' tumors. | Perotti D et al. | β | 2008 | β |
| Hematopoiesis is not clonal in healthy elderly women. | Swierczek SI et al. | β | 2008 | β |
| Highly skewed inactivation of the wild-type X-chromosome in asymptomatic female carriers of spinal and bulbar muscular atrophy (Kennedy's disease). | Paradas C et al. | β | 2008 | β |
| Identification of a Btk mutation in a dysgammaglobulinemic patient with reduced B cells: XLA diagnosis or not? | Graziani S et al. | β | 2008 | β |
| Identification of novel mutations in X-linked retinitis pigmentosa families and implications for diagnostic testing. | Neidhardt J et al. | β | 2008 | β |
| Impairment of CDKL5 nuclear localisation as a cause for severe infantile encephalopathy. | Rosas-Vargas H et al. | β | 2008 | β |
| Inactivation of the CDKL3 gene at 5q31.1 by a balanced t(X;5) translocation associated with nonspecific mild mental retardation. | Dubos A et al. | β | 2008 | β |
| Key clinical features to identify girls with CDKL5 mutations. | Bahi-Buisson N et al. | β | 2008 | β |
| Lack of association between skewing of X-chromosome inactivation in blood cells and colorectal cancer. | Knudsen GP et al. | β | 2008 | β |
| Langerhans cell histiocytosis. | Margo CE et al. | β | 2008 | β |
| Lyonization pattern of normal human nails. | Okada M et al. | β | 2008 | β |
| MCT8 mutation analysis and identification of the first female with Allan-Herndon-Dudley syndrome due to loss of MCT8 expression. | Frints SG et al. | β | 2008 | β |
| Molecular and cytogenetic analysis of the spreading of X inactivation in a girl with microcephaly, mild dysmorphic features and t(X;5)(q22.1;q31.1). | Giorda R et al. | β | 2008 | β |
| Mosaicism for r(X) and der(X)del(X)(p11.23)dup(X)(p11.21p11.22) provides insight into the possible mechanism of rearrangement. | Shchelochkov OA et al. | β | 2008 | β |
| Muscle pain as the only presenting symptom in a girl with dystrophinopathy. | Ceulemans BP et al. | β | 2008 | β |
| No evidence that skewing of X chromosome inactivation patterns is transmitted to offspring in humans. | Bolduc V et al. | β | 2008 | β |
| Partial Xp11.23-p11.4 duplication with random X inactivation: clinical report and molecular cytogenetic characterization. | Monnot S et al. | β | 2008 | β |
| Polymorphisms of CYP17A1, CYP19, and androgen in Brazilian women with uterine leiomyomas. | Rosa FE et al. | β | 2008 | β |
| Prader-Willi syndrome phenocopy due to duplication of Xq21.1-q21.31, with array CGH of the critical region. | Gabbett MT et al. | β | 2008 | β |
| Prenatal diagnosis and genetic counseling of a Chinese Alport syndrome kindred. | Zhang H et al. | β | 2008 | β |
| Skewed X chromosome inactivation and breast and ovarian cancer status: evidence for X-linked modifiers of BRCA1. | Lose F et al. | β | 2008 | β |
| Skewed X chromosome inactivation failed to explain the normal phenotype of a carrier female with MECP2 mutation resulting in Rett syndrome. | Takahashi S et al. | β | 2008 | β |
| Skewed X chromosome inactivation in fraternal female twins results in moderately severe and mild haemophilia B. | Okumura K et al. | β | 2008 | β |
| Skewed X-chromosome inactivation in Greek women with idiopathic recurrent miscarriage. | Dasoula A et al. | β | 2008 | β |
| Skewed X-chromosome inactivation in scleroderma. | Uz E et al. | β | 2008 | β |
| Skewed X inactivation is associated with phenotype in a female with adrenal hypoplasia congenita. | Shaikh MG et al. | β | 2008 | β |
| SLC9A6 mutations cause X-linked mental retardation, microcephaly, epilepsy, and ataxia, a phenotype mimicking Angelman syndrome. | Gilfillan GD et al. | β | 2008 | β |
| Specific mutations in methyl-CpG-binding protein 2 confer different severity in Rett syndrome. | Neul JL et al. | β | 2008 | β |
| The degree of external genitalia virilization in girls with 21-hydroxylase deficiency appears to be influenced by the CAG repeats in the androgen receptor gene. | Rocha RO et al. | β | 2008 | β |
| The three stages of epilepsy in patients with CDKL5 mutations. | Bahi-Buisson N et al. | β | 2008 | β |
| Three novel mutations in the PORCN gene underlying focal dermal hypoplasia. | Leoyklang P et al. | β | 2008 | β |
| Turner syndrome mosaicism: an unusual case with a de novo large dicentric marker chromosome: mos 45,X/46,X, ter rea(X;X)(p22.3;p22.3). | Nucaro AL et al. | β | 2008 | β |
| Use of human androgen receptor gene analysis to aid the diagnosis of JMML in female noonan syndrome patients. | Lavin VA et al. | β | 2008 | β |
| X chromosome inactivation in Rett Syndrome and its correlations with MECP2 mutations and phenotype. | Xinhua Bao et al. | β | 2008 | β |
| X-linked chronic granulomatous disease secondary to skewed X chromosome inactivation in a female with a novel CYBB mutation and late presentation. | Lewis EM et al. | β | 2008 | β |
| X-linked congenital ataxia: a new locus maps to Xq25-q27.1. | Zanni G et al. | β | 2008 | β |
| X-linked hypohidrotic ectodermal dysplasia. Genetic and dental findings in 67 Danish patients from 19 families. | Lexner MO et al. | β | 2008 | β |
| ZPLD1 gene is disrupted in a patient with balanced translocation that exhibits cerebral cavernous malformations. | Gianfrancesco F et al. | β | 2008 | β |
| A case of incontinentia pigmenti in Japan and its genetic examination. | Huang J et al. | β | 2007 | β |
| A male infant with a 9.6 Mb terminal Xp deletion including the OA1 locus: Limit of viability of Xp deletions in males. | Melichar VO et al. | β | 2007 | β |
| A non-ancestral RPGR missense mutation in families with either recessive or semi-dominant X-linked retinitis pigmentosa. | Banin E et al. | β | 2007 | β |
| A possible bichromatid mutation in a male gamete giving rise to a female mosaic for two different mutations in the X-linked gene WAS. | Dobbs AK et al. | β | 2007 | β |
| A Turner syndrome neurocognitive phenotype maps to Xp22.3. | Zinn AR et al. | β | 2007 | β |
| Brachymesomelic dysplasia with Peters anomaly of the eye results from disruptions of the X chromosome near the SHOX and SOX3 genes. | Bleyl SB et al. | β | 2007 | β |
| Chromosomal microarray analysis (CMA) detects a large X chromosome deletion including FMR1, FMR2, and IDS in a female patient with mental retardation. | Probst FJ et al. | β | 2007 | β |
| Clonality analysis and human papillomavirus infection in squamous metaplasia and atypical immature metaplasia of uterine cervix: is atypical immature metaplasia a precursor to cervical intraepithelial neoplasia 3? | Miyatake T et al. | β | 2007 | β |
| Comprehensive diagnosis of Rett's syndrome relying on genetic, epigenetic and expression evidence of deficiency of the methyl-CpG-binding protein 2 gene: study of a cohort of Israeli patients. | Petel-Galil Y et al. | β | 2007 | β |
| Copy-number variations measured by single-nucleotide-polymorphism oligonucleotide arrays in patients with mental retardation. | Wagenstaller J et al. | β | 2007 | β |
| Correlation between clinical severity in patients with Rett syndrome with a p.R168X or p.T158M MECP2 mutation, and the direction and degree of skewing of X-chromosome inactivation. | Archer H et al. | β | 2007 | β |
| Delineation of large deletions of the MECP2 gene in Rett syndrome patients, including a familial case with a male proband. | Hardwick SA et al. | β | 2007 | β |
| Detection of genomic copy number changes in patients with idiopathic mental retardation by high-resolution X-array-CGH: important role for increased gene dosage of XLMR genes. | Froyen G et al. | β | 2007 | β |
| Diagnosis of myotubular myopathy in the oldest known manifesting female carrier: a clinical and genetic study. | PΓ©nisson-Besnier I et al. | β | 2007 | β |
| Epigenetic profile of testicular germ cell tumours. | Okamoto K et al. | β | 2007 | β |
| Extremely skewed X-chromosome inactivation is increased in pre-eclampsia. | Uz E et al. | β | 2007 | β |
| Gene body-specific methylation on the active X chromosome. | Hellman A et al. | β | 2007 | β |
| Gene expression and clonality analysis of the androgen receptor and phosphoglycerate kinase genes in polygonal cells and cuboidal cells in so-called pulmonary sclerosing hemangioma. | Wang EH et al. | β | 2007 | β |
| Heritable skewed X-chromosome inactivation leads to haemophilia A expression in heterozygous females. | Renault NK et al. | β | 2007 | β |
| Heterozygote BRCA1 status and skewed chromosome X inactivation. | Helbling-Leclere A et al. | β | 2007 | β |
| Histogenesis of sarcomatoid urothelial carcinoma of the urinary bladder: evidence for a common clonal origin with divergent differentiation. | Sung MT et al. | β | 2007 | β |
| Increased skewing of X chromosome inactivation with age in both blood and buccal cells. | Knudsen GP et al. | β | 2007 | β |
| Lineage-specific clonality analysis of chronic myeloproliferative disorders and myelodysplastic syndrome by human androgen receptor assay. | JΓ‘ksΓ³ P et al. | β | 2007 | β |
| Loss of SLC38A5 and FTSJ1 at Xp11.23 in three brothers with non-syndromic mental retardation due to a microdeletion in an unstable genomic region. | Froyen G et al. | β | 2007 | β |
| MECP2 and CDKL5 gene mutation analysis in Chinese patients with Rett syndrome. | Li MR et al. | β | 2007 | β |
| MECP2 coding sequence and 3'UTR variation in 172 unrelated autistic patients. | Coutinho AM et al. | β | 2007 | β |
| MECP2 mutations in Serbian Rett syndrome patients. | Djarmati A et al. | β | 2007 | β |
| Methylation status of the SNRPN and HUMARA genes in testicular biopsy samples. | Dasoula A et al. | β | 2007 | β |
| Molecular genetic evidence of an independent origin of serous low malignant potential implants and lymph node inclusions. | Emerson RE et al. | β | 2007 | β |
| Multitissular involvement in a family with LMNA and EMD mutations: Role of digenic mechanism? | Ben Yaou R et al. | β | 2007 | β |
| Mutation in CUL4B, which encodes a member of cullin-RING ubiquitin ligase complex, causes X-linked mental retardation. | Zou Y et al. | β | 2007 | β |
| Mutations in the AP1S2 gene encoding the sigma 2 subunit of the adaptor protein 1 complex are associated with syndromic X-linked mental retardation with hydrocephalus and calcifications in basal ganglia. | Saillour Y et al. | β | 2007 | β |
| Nephrogenic syndrome of inappropriate antidiuresis in adults: high phenotypic variability in men and women from a large pedigree. | Decaux G et al. | β | 2007 | β |
| Nodular Hyperplasia of the Bartholin Gland: A Clinicopathological Study of Two Cases, Including Detection of Clonality by HUMARA. | Kazakov DV et al. | β | 2007 | β |
| Novel EBP gene mutations in Conradi-HΓΌnermann-Happle syndrome. | Steijlen PM et al. | β | 2007 | β |
| PAK3 related mental disability: further characterization of the phenotype. | Peippo M et al. | β | 2007 | β |
| Partial duplications of the ATRX gene cause the ATR-X syndrome. | Thienpont B et al. | β | 2007 | β |
| Partial tandem duplication of GRIA3 in a male with mental retardation. | Chiyonobu T et al. | β | 2007 | β |
| Pathogenesis of infantile haemangioma: new molecular and cellular insights. | Ritter MR et al. | β | 2007 | β |
| Pelizaeus-Merzbacher syndrome: neurocognitive function in a family with carrier manifestations. | Marble M et al. | β | 2007 | β |
| Phenotype in X chromosome rearrangements: pitfalls of X inactivation study. | Schluth C et al. | β | 2007 | β |
| Phenotypes of female adrenoleukodystrophy. | Jung HH et al. | β | 2007 | β |
| Platelet and coagulation activation markers in myeloproliferative diseases: relationships with JAK2 V6I7 F status, clonality, and antiphospholipid antibodies. | Robertson B et al. | β | 2007 | β |
| Plexiform-like neurofibromas develop in the mouse by intraneural xenograft of an NF1 tumor-derived Schwann cell line. | Perrin GQ et al. | β | 2007 | β |
| Preferential X chromosome loss but random inactivation characterize primary biliary cirrhosis. | Miozzo M et al. | β | 2007 | β |
| Severe hypohidrotic ectodermal dysplasia in a girl caused by a de novo 9;X insertion that includes XIST and disrupts the EDA gene. | Γrstavik KH et al. | β | 2007 | β |
| Skewed X-chromosome inactivation is associated with primary but not secondary ovarian failure. | Bretherick KL et al. | β | 2007 | β |
| Symptoms of OTC deficiency but not DMD in a female carrier of an Xp21.1 deletion including the genes for dystrophin and OTC. | Jakubiczka S et al. | β | 2007 | β |
| Terminal osseous dysplasia with pigmentary defects: clinical description of a new family. | Baroncini A et al. | β | 2007 | β |
| The human androgen receptor X-chromosome inactivation assay for clonality diagnostics of natural killer cell proliferations. | Boudewijns M et al. | β | 2007 | β |
| Thyroid epigenetics: X chromosome inactivation in patients with autoimmune thyroid disease. | Yin X et al. | β | 2007 | β |
| Two distinctive mechanisms leading to disruption of the SHOX transcription unit in a single family. | Izumi K et al. | β | 2007 | β |
| Variant Klinefelter syndrome 47,X,i(X)(q10),Y and normal 46,XY karyotype in monozygotic adult twins. | Stemkens D et al. | β | 2007 | β |
| X chromosome inactivation in females with multiple sclerosis. | Knudsen GP et al. | β | 2007 | β |
| X-chromosome inactivation patterns in females with Prader-Willi syndrome. | Butler MG et al. | β | 2007 | β |
| X-chromosome tiling path array detection of copy number variants in patients with chromosome X-linked mental retardation. | Madrigal I et al. | β | 2007 | β |
| X-linked clonality testing: interpretation and limitations. | Chen GL et al. | β | 2007 | β |
| A clinical and molecular study of 26 females with Xp deletions with special emphasis on inherited deletions. | Lachlan KL et al. | β | 2006 | β |
| Adenosis tumor of anogenital mammary-like glands: a case report and demonstration of clonality by HUMARA assay. | Kazakov DV et al. | β | 2006 | β |
| Allelic mRNA expression of X-linked monoamine oxidase a (MAOA) in human brain: dissection of epigenetic and genetic factors. | Pinsonneault JK et al. | β | 2006 | β |
| A locus for familial skewed X chromosome inactivation maps to chromosome Xq25 in a family with a female manifesting Lowe syndrome. | Cau M et al. | β | 2006 | β |
| A new cohort of MECP2 mutation screening in unexplained mental retardation: careful re-evaluation is the best indicator for molecular diagnosis. | Donzel-Javouhey A et al. | β | 2006 | β |
| A new osteochondrodysplasia with severe osteopenia, preaxial polydactyly, clefting and dysmorphic features resembling filamin-related disorders. | Colombani M et al. | β | 2006 | β |
| A novel RSK2 (RPS6KA3) gene mutation associated with abnormal brain MRI findings in a family with Coffin-Lowry syndrome. | Wang Y et al. | β | 2006 | β |
| A novel X-linked recessive mental retardation syndrome comprising macrocephaly and ciliary dysfunction is allelic to oral-facial-digital type I syndrome. | Budny B et al. | β | 2006 | β |
| Association between androgen receptor gene polymorphism and bone density in older women using hormone replacement therapy. | Retornaz F et al. | β | 2006 | β |
| A truncating mutation in the IL1RAPL1 gene is responsible for X-linked mental retardation in the MRX21 family. | Tabolacci E et al. | β | 2006 | β |
| CDKL5 mutations cause infantile spasms, early onset seizures, and severe mental retardation in female patients. | Archer HL et al. | β | 2006 | β |
| Chromosomal copy number changes in patients with non-syndromic X linked mental retardation detected by array CGH. | Lugtenberg D et al. | β | 2006 | β |
| Clinical, molecular, and genotype-phenotype correlation studies from 25 cases of oral-facial-digital syndrome type 1: a French and Belgian collaborative study. | Thauvin-Robinet C et al. | β | 2006 | β |
| Clonal analysis of palmar fibromatosis: a study whether palmar fibromatosis is a real tumor. | Wang L et al. | β | 2006 | β |
| Clonality analysis of pediatric multiple tumors: two case reports and laboratory investigation. | Giunti L et al. | β | 2006 | β |
| Clonal nature of sclerosing polycystic adenosis of salivary glands demonstrated by using the polymorphism of the human androgen receptor (HUMARA) locus as a marker. | SkΓ‘lovΓ‘ A et al. | β | 2006 | β |
| Comprehensive diagnosis of Rett's syndrome relying on genetic, epigenetic and expression evidence of deficiency of the methyl-CpG-binding protein 2 gene: study of a cohort of Israeli patients. | Petel-Galil Y et al. | β | 2006 | β |
| De novo isodicentric X chromosome: 46,X,idic(X)(q24), and summary of literature. | Tsai AC et al. | β | 2006 | β |
| DNA and kinetic heterogeneity during the clonal evolution of adrenocortical proliferative lesions. | Blanes A et al. | β | 2006 | β |
| Endothelial progenitor cells display clonal restriction in multiple myeloma. | Braunstein M et al. | β | 2006 | β |
| Epigenetic modification of the X chromosome influences susceptibility to polycystic ovary syndrome. | Hickey TE et al. | β | 2006 | β |
| Evidence from autoimmune thyroiditis of skewed X-chromosome inactivation in female predisposition to autoimmunity. | Ozcelik T et al. | β | 2006 | β |
| Extremely skewed X-chromosome inactivation patterns in women with recurrent spontaneous abortion. | Bagislar S et al. | β | 2006 | β |
| Extreme skewing of X chromosome inactivation in mothers of homosexual men. | Bocklandt S et al. | β | 2006 | β |
| Familial molar tissues due to mutations in the inflammatory gene, NALP7, have normal postzygotic DNA methylation. | Djuric U et al. | β | 2006 | β |
| Frontometaphyseal dysplasia: mutations in FLNA and phenotypic diversity. | Robertson SP et al. | β | 2006 | β |
| Generalized lysosome-associated membrane protein-2 defect explains multisystem clinical involvement and allows leukocyte diagnostic screening in Danon disease. | Fanin M et al. | β | 2006 | β |
| Genotype-epigenotype-phenotype correlations in females with frontometaphyseal dysplasia. | Zenker M et al. | β | 2006 | β |
| Gross rearrangements of the MECP2 gene are found in both classical and atypical Rett syndrome patients. | Archer HL et al. | β | 2006 | β |
| Heterotaxy and cardiac defect in a girl with chromosome translocation t(X;1)(q26;p13.1) and involvement of ZIC3. | Tzschach A et al. | β | 2006 | β |
| Increased DNA methylation at the AXIN1 gene in a monozygotic twin from a pair discordant for a caudal duplication anomaly. | Oates NA et al. | β | 2006 | β |
| Inguinal metastasis of a bladder mixed carcinoma with predominant adenocarcinoma component. | Hamano A et al. | β | 2006 | β |
| Isolation of multipotent progenitor cells from human fetal liver capable of differentiating into liver and mesenchymal lineages. | Dan YY et al. | β | 2006 | β |
| Is there an influence of X-chromosomal imprinting on the phenotype in Klinefelter syndrome? A clinical and molecular genetic study of 61 cases. | Stemkens D et al. | β | 2006 | β |
| Large deletions of the MECP2 gene in Chinese patients with classical Rett syndrome. | Pan H et al. | β | 2006 | β |
| Maternal origin of a novel C-terminal truncation mutation in CDKL5 causing a severe atypical form of Rett syndrome. | Nectoux J et al. | β | 2006 | β |
| Methylation of two Homo sapiens-specific X-Y homologous genes in Klinefelter's syndrome (XXY). | Ross NL et al. | β | 2006 | β |
| Molecular cytogenetic analysis of a familial interstitial deletion Xp22.2-22.3 with a highly variable phenotype in female carriers. | Chocholska S et al. | β | 2006 | β |
| Monoclonal origin of anatomically distinct basal cell carcinomas. | Shulman O et al. | β | 2006 | β |
| Multiplex ligation-dependent probe amplification to detect subtelomeric rearrangements in routine diagnostics. | Rooms L et al. | β | 2006 | β |
| Mutation screening in Borjeson-Forssman-Lehmann syndrome: identification of a novel de novo PHF6 mutation in a female patient. | Crawford J et al. | β | 2006 | β |
| Mutations of the mitochondrial holocytochrome c-type synthase in X-linked dominant microphthalmia with linear skin defects syndrome. | Wimplinger I et al. | β | 2006 | β |
| Novel splice isoforms for NLGN3 and NLGN4 with possible implications in autism. | Talebizadeh Z et al. | β | 2006 | β |
| Novel splicing mutation in the NEMO (IKK-gamma) gene with severe immunodeficiency and heterogeneity of X-chromosome inactivation. | Γrstavik KH et al. | β | 2006 | β |
| People with MECP2 mutation-positive Rett disorder who converse. | Kerr AM et al. | β | 2006 | β |
| Predictors of seizure onset in Rett syndrome. | Jian L et al. | β | 2006 | β |
| Prenatal and postnatal characterization of a de novo Xq22.1 terminal deletion. | Vaglio A et al. | β | 2006 | β |
| Recombinant X chromosome in a prenatal diagnosis. | Orellana C et al. | β | 2006 | β |
| Severe combined immunodeficiency associated with nephrogenic diabetes insipidus and a deletion in the Xq28 region. | Broides A et al. | β | 2006 | β |
| Skewed expression of natural-killer (NK)-associated antigens on lymphoproliferations of large granular lymphocytes (LGL). | Fischer L et al. | β | 2006 | β |
| Skewed X chromosome inactivation and early-onset breast cancer. | Struewing JP et al. | β | 2006 | β |
| Skewed X-chromosome inactivation is not associated with premature ovarian failure in a large cohort of Italian patients. | Bione S et al. | β | 2006 | β |
| Skewing of X-chromosome inactivation in three generations of carriers with X-linked chronic granulomatous disease within one family. | KΓΆker MY et al. | β | 2006 | β |
| The NEMO mutation creating the most-upstream premature stop codon is hypomorphic because of a reinitiation of translation. | Puel A et al. | β | 2006 | β |
| UBE2A, which encodes a ubiquitin-conjugating enzyme, is mutated in a novel X-linked mental retardation syndrome. | Nascimento RM et al. | β | 2006 | β |
| Unusual hyperplasia of anogenital mammary-like glands. | Kazakov DV et al. | β | 2006 | β |
| Use of X-chromosome inactivation pattern to determine the clonal origins of uterine leiomyoma and leiomyosarcoma. | Zhang P et al. | β | 2006 | β |
| X chromosomal abnormalities in basal-like human breast cancer. | Richardson AL et al. | β | 2006 | β |
| X chromosome-inactivation patterns of 1,005 phenotypically unaffected females. | Amos-Landgraf JM et al. | β | 2006 | β |
| X-linked sideroblastic anemia associated with a novel ALAS2 mutation and unfortunate skewed X-chromosome inactivation patterns. | Aivado M et al. | β | 2006 | β |
| Age-associated skewing of X-inactivation ratios of blood cells in normal females: a candidate-gene analysis approach. | Chagnon P et al. | β | 2005 | β |
| A new mutation in exon 7 of NEMO gene: late skewed X-chromosome inactivation in an incontinentia pigmenti female patient with immunodeficiency. | Martinez-Pomar N et al. | β | 2005 | β |
| A novel filamin A D203Y mutation in a female patient with otopalatodigital type 1 syndrome and extremely skewed X chromosome inactivation. | Hidalgo-Bravo A et al. | β | 2005 | β |
| An Xq22.3 duplication detected by comparative genomic hybridization microarray (Array-CGH) defines a new locus (FGS5) for FG syndrome. | Jehee FS et al. | β | 2005 | β |
| Association between androgen receptor gene CAG repeat polymorphism and plasma testosterone levels in postmenopausal women. | Brum IS et al. | β | 2005 | β |
| Brief report: non-random X chromosome inactivation in females with autism. | Talebizadeh Z et al. | β | 2005 | β |
| Cerebral, cerebellar, and colobomatous anomalies in three related males: Sex-linked inheritance in a newly recognized syndrome with features overlapping with Joubert syndrome. | Kroes HY et al. | β | 2005 | β |
| Classic Rett syndrome in a boy with R133C mutation of MECP2. | Masuyama T et al. | β | 2005 | β |
| Clonal divergence and genetic heterogeneity in clear cell renal cell carcinomas with sarcomatoid transformation. | Jones TD et al. | β | 2005 | β |
| Distinctive epigenetic phenotype of cancer testis antigen genes among seminomatous and nonseminomatous testicular germ-cell tumors. | Zhang C et al. | β | 2005 | β |
| Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males. | Van Esch H et al. | β | 2005 | β |
| Duplication of Xq26.2-q27.1, including SOX3, in a mother and daughter with short stature and dyslalia. | Stankiewicz P et al. | β | 2005 | β |
| Early onset seizures and Rett-like features associated with mutations in CDKL5. | Evans JC et al. | β | 2005 | β |
| Epigenetic differences arise during the lifetime of monozygotic twins. | Fraga MF et al. | β | 2005 | β |
| Familial nonrandom inactivation linked to the X inactivation centre in heterozygotes manifesting haemophilia A. | Bicocchi MP et al. | β | 2005 | β |
| Frequent c-Kit gene mutations not only in gastrointestinal stromal tumors but also in interstitial cells of Cajal in surrounding normal mucosa. | Ogasawara N et al. | β | 2005 | β |
| Genetic mosaicism in basal cell carcinoma. | Asplund A et al. | β | 2005 | β |
| Hemosiderotic fibrohistiocytic lipomatous lesion: clinical correlation with venous stasis. | Kazakov DV et al. | β | 2005 | β |
| High incidence of skewed X chromosome inactivation in young patients with familial non-BRCA1/BRCA2 breast cancer. | Kristiansen M et al. | β | 2005 | β |
| Identification and functional characterization of 2 variant alleles of the telomerase RNA template gene (TERC) in a patient with dyskeratosis congenita. | Ly H et al. | β | 2005 | β |
| Independent clonal origin of multiple uterine leiomyomas that was determined by X chromosome inactivation and microsatellite analysis. | Canevari RA et al. | β | 2005 | β |
| Lesch-Nyhan disease in a female with a clinically normal monozygotic twin. | De Gregorio L et al. | β | 2005 | β |
| Long-term persistence of host cells detected by X-chromosome gene-based assay in patients undergoing gender-mismatched hematopoietic stem cell transplantation. | Karasawa M et al. | β | 2005 | β |
| Loss of ZDHHC15 expression in a woman with a balanced translocation t(X;15)(q13.3;cen) and severe mental retardation. | Mansouri MR et al. | β | 2005 | β |
| Methyl-CpG binding protein 2 gene (MECP2) variations in Japanese patients with Rett syndrome: pathological mutations and polymorphisms. | Fukuda T et al. | β | 2005 | β |
| Mutation in the 5' alternatively spliced region of the XNP/ATR-X gene causes Chudley-Lowry syndrome. | Abidi FE et al. | β | 2005 | β |
| Mutations in exon 1 of MECP2 are a rare cause of Rett syndrome. | Amir RE et al. | β | 2005 | β |
| Myopathy with skeletal asymmetry and hemidiaphragm elevation is caused by myotubularin mutations. | Grogan PM et al. | β | 2005 | β |
| Non-skewed X-inactivation may cause mental retardation in a female carrier of X-linked alpha-thalassemia/mental retardation syndrome (ATR-X): X-inactivation study of nine female carriers of ATR-X. | Wada T et al. | β | 2005 | β |
| Oligophrenin 1 mutations frequently cause X-linked mental retardation with cerebellar hypoplasia. | Zanni G et al. | β | 2005 | β |
| Ovarian transplantation between monozygotic twins discordant for premature ovarian failure. | Silber SJ et al. | β | 2005 | β |
| Over- and underdosage of SOX3 is associated with infundibular hypoplasia and hypopituitarism. | Woods KS et al. | β | 2005 | β |
| Relationship between X-inactivation and clinical involvement in Fabry heterozygotes. Eleven novel mutations in the alpha-galactosidase A gene in the Czech and Slovak population. | Dobrovolny R et al. | β | 2005 | β |
| Severe neuropathy with leaky connexin32 hemichannels. | Liang GS et al. | β | 2005 | β |
| Situs ambiguus in a female fetus with balanced (X;21) translocation--evidence for functional nullisomy of the ZIC3 gene? | Fritz B et al. | β | 2005 | β |
| Skewed X chromosome inactivation in blood cells of women with scleroderma. | Ozbalkan Z et al. | β | 2005 | β |
| Study on the application of parent-of-origin specific DNA methylation markers to forensic genetics. | Zhao G et al. | β | 2005 | β |
| Submicroscopic duplication in Xq28 causes increased expression of the MECP2 gene in a boy with severe mental retardation and features of Rett syndrome. | Meins M et al. | β | 2005 | β |
| The association of skewed X chromosome inactivation with aneuploidy in humans. | Bretherick K et al. | β | 2005 | β |
| The impact of MECP2 mutations in the expression patterns of Rett syndrome patients. | Ballestar E et al. | β | 2005 | β |
| The presence of clonal cell subpopulations in peripheral blood and bone marrow of patients with refractory cytopenia with multilineage dysplasia but not in patients with refractory anemia may reflect a multistep pathogenesis of myelodysplasia. | CermΓ‘k J et al. | β | 2005 | β |
| Twin study of genetic and aging effects on X chromosome inactivation. | Kristiansen M et al. | β | 2005 | β |
| X chromosome inactivation patterns in brain in Rett syndrome: implications for the disease phenotype. | Gibson JH et al. | β | 2005 | β |
| A case of juvenile myelomonocytic leukemia with concomitant cytomegalovirus infection. | Toyoda H et al. | β | 2004 | β |
| A dual phenotype of periventricular nodular heterotopia and frontometaphyseal dysplasia in one patient caused by a single FLNA mutation leading to two functionally different aberrant transcripts. | Zenker M et al. | β | 2004 | β |
| A locus for nonspecific X-linked mental retardation mapped to a 22.3 cM region of Xp11.3-q22.3. | Zhang X et al. | β | 2004 | β |
| A longitudinal study of X-inactivation ratio in human females. | Sandovici I et al. | β | 2004 | β |
| A molecular genetic and statistical approach for the diagnosis of dual-site cancers. | Brinkmann D et al. | β | 2004 | β |
| A monozygotic twin pregnancy discordant for acardia and X-inactivation pattern. | Masuzaki H et al. | β | 2004 | β |
| Analysis of promoter region of X-linked pgk-1 gene polymorphisms: evidence for polyclonality of adult mouse gastric glands. | Nomura S et al. | β | 2004 | β |
| A novel deletion mutation in the arginine vasopressin receptor 2 gene and skewed X chromosome inactivation in a female patient with congenital nephrogenic diabetes insipidus. | Kinoshita K et al. | β | 2004 | β |
| A novel PCR approach for prenatal detection of the common NEMO rearrangement in incontinentia pigmenti. | Steffann J et al. | β | 2004 | β |
| A novel syndrome combining thyroid and neurological abnormalities is associated with mutations in a monocarboxylate transporter gene. | Dumitrescu AM et al. | β | 2004 | β |
| Association of male infertility with Pro185Ala polymorphism in the aryl hydrocarbon receptor repressor gene: implication for the susceptibility to dioxins. | Watanabe M et al. | β | 2004 | β |
| Biparental expression of ESX1L gene in placentas from normal and intrauterine growth-restricted pregnancies. | Grati FR et al. | β | 2004 | β |
| Clonal haemopoiesis may occur after conventional chemotherapy and is associated with accelerated telomere shortening and defects in the NQO1 pathway; possible mechanisms leading to an increased risk of t-AML/MDS. | Fern L et al. | β | 2004 | β |
| Disruption of a new X linked gene highly expressed in brain in a family with two mentally retarded males. | Cantagrel V et al. | β | 2004 | β |
| Functional disomy resulting from duplications of distal Xq in four unrelated patients. | Lachlan KL et al. | β | 2004 | β |
| Genotyping of AR and PSA polymorphisms in a patient with Klinefelter syndrome, non-Hodgkin lymphoma, and adenocarcinoma of the prostate. | Mattos Dos Santos R et al. | β | 2004 | β |
| Germline and mosaic mutations of FLN1 in men with periventricular heterotopia. | Guerrini R et al. | β | 2004 | β |
| Identification of a new point mutation in hypoxanthine phosphoribosyl transferase responsible for hyperuricemia in a female patient. | Inokuchi T et al. | β | 2004 | β |
| Increased incidence of monoclonal B-cell infiltrate in chronic myeloproliferative disorders. | Pajor L et al. | β | 2004 | β |
| Keloid scars are formed by polyclonal fibroblasts. | Chevray PM et al. | β | 2004 | β |
| Molecular genetic analysis of ovarian serous cystadenomas. | Cheng EJ et al. | β | 2004 | β |
| Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation. | Weaving LS et al. | β | 2004 | β |
| Mutations of ephrin-B1 (EFNB1), a marker of tissue boundary formation, cause craniofrontonasal syndrome. | Twigg SR et al. | β | 2004 | β |
| Mutations of the ephrin-B1 gene cause craniofrontonasal syndrome. | Wieland I et al. | β | 2004 | β |
| Oculofaciocardiodental and Lenz microphthalmia syndromes result from distinct classes of mutations in BCOR. | Ng D et al. | β | 2004 | β |
| Phenotype and X inactivation in 45,X/46,X,r(X) cases. | Leppig KA et al. | β | 2004 | β |
| Robust fragile X (CGG)n genotype classification using a methylation specific triple PCR assay. | Zhou Y et al. | β | 2004 | β |
| SHOX mutations in a family and a fetus with Langer mesomelic dwarfism. | Thomas NS et al. | β | 2004 | β |
| Silent corticotroph adenomas: further clinical and pathological observations. | Lopez JA et al. | β | 2004 | β |
| Skewed X-inactivation in carriers establishes linkage in an X-linked deafness-mental retardation syndrome. | Probst FJ et al. | β | 2004 | β |
| The dynamics of X-inactivation skewing as women age. | Hatakeyama C et al. | β | 2004 | β |
| The identification of monoclonality in fibrous dysplasia by methylation-specific polymerase chain reaction for the human androgen receptor gene. | Mikami M et al. | β | 2004 | β |
| Twin pairs showing discordance of phenotype in adult Gaucher's disease. | Lachmann RH et al. | β | 2004 | β |
| X-chromosome inactivation patterns in Korean women with idiopathic recurrent spontaneous abortion. | Kim JW et al. | β | 2004 | β |
| X-linked inheritance of Fanconi anemia complementation group B. | Meetei AR et al. | β | 2004 | β |
| [Application of molecular biology techniques to malignant haematology]. | Delabesse E et al. | β | 2003 | β |
| Carcinosarcomas (malignant mullerian mixed tumors) of the uterus and ovary: a genetic study with special reference to histogenesis. | Jin Z et al. | β | 2003 | β |
| Clonal analysis of granulocyte-monocyte colony-forming unit cells with the human androgen receptor gene in chronic myeloid leukemia. | Akel S et al. | β | 2003 | β |
| Combined glucose-6-phosphate dehydrogenase and glucosephosphate isomerase deficiency can alter clinical outcome. | Clarke JL et al. | β | 2003 | β |
| Comments on "osteopathia striata cranial sclerosis: non-random X-inactivation suggestive of X-linked dominant inheritance". | Kraus C et al. | β | 2003 | β |
| Complex chromosomal rearrangement and associated counseling issues in a family with Pelizaeus-Merzbacher disease. | Woodward K et al. | β | 2003 | β |
| Cryptic t(1;12)(q44;p13.3) translocation in a previously described syndrome with polymicrogyria, segregating as an apparently X-linked trait. | Zollino M et al. | β | 2003 | β |
| De novo dup(X)(q22.3q26) in a girl with evidence that functional disomy of X material is the cause of her abnormal phenotype. | Armstrong L et al. | β | 2003 | β |
| Detection of nonrandom X chromosome inactivation. | Thouin MM et al. | β | 2003 | β |
| Discrimination of polycythemias and thrombocytoses by novel, simple, accurate clonality assays and comparison with PRV-1 expression and BFU-E response to erythropoietin. | Liu E et al. | β | 2003 | β |
| Early and severe presentation of X-linked myotubular myopathy in a girl with skewed X-inactivation. | Jungbluth H et al. | β | 2003 | β |
| Epithelial carcinogenesis: challenging monoclonality. | Going JJ | β | 2003 | β |
| Epithelial to mesenchymal transition in human breast cancer can provide a nonmalignant stroma. | Petersen OW et al. | β | 2003 | β |
| Evidence of clonality in chronic neutrophilic leukaemia. | BΓΆhm J et al. | β | 2003 | β |
| Evidence of the monoclonal composition of human endometrial epithelial glands and mosaic pattern of clonal distribution in luminal epithelium. | Tanaka M et al. | β | 2003 | β |
| Fragile-X syndrome and skewed X-chromosome inactivation within a family: a female member with complete inactivation of the functional X chromosome. | Heine-SuΓ±er D et al. | β | 2003 | β |
| Further delineation of Wittwer syndrome and refinement of the mapping region. | Wieland I et al. | β | 2003 | β |
| Gross rearrangements in the MECP2 gene in three patients with Rett syndrome: implications for routine diagnosis of Rett syndrome. | Schollen E et al. | β | 2003 | β |
| Histogenesis of hepatoid adenocarcinoma of the stomach: molecular evidence of identical origin with coexistent tubular adenocarcinoma. | Akiyama S et al. | β | 2003 | β |
| Identification of a 650 kb duplication at the X chromosome breakpoint in a patient with 46,X,t(X;8)(q28;q12) and non-syndromic mental retardation. | Cox JJ et al. | β | 2003 | β |
| Identification of MeCP2 mutations in a series of females with autistic disorder. | Carney RM et al. | β | 2003 | β |
| Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans. | Robertson SP et al. | β | 2003 | β |
| MECP2 mutations or polymorphisms in mentally retarded boys: diagnostic implications. | Bourdon V et al. | β | 2003 | β |
| Mental retardation in a boy with congenital adrenal hypoplasia: a clue to contiguous gene syndrome involving DAX1 and IL1RAPL. | Sasaki R et al. | β | 2003 | β |
| Methylation of ZNF261 as an assay for determining X chromosome inactivation patterns. | Beever C et al. | β | 2003 | β |
| Molecular prenatal diagnosis in a case of an X-linked dominant chondrodysplasia punctata. | Whittock NV et al. | β | 2003 | β |
| Monoclonal expansion with integration of high-risk type human papillomaviruses is an initial step for cervical carcinogenesis: association of clonal status and human papillomavirus infection with clinical outcome in cervical intraepithelial neoplasia. | Ueda Y et al. | β | 2003 | β |
| NOD/SCID mice transplanted with marrow from patients with myelodysplastic syndrome (MDS) show long-term propagation of normal but not clonal human precursors. | Benito AI et al. | β | 2003 | β |
| Nonsyndromic mental retardation and cryptogenic epilepsy in women with doublecortin gene mutations. | Guerrini R et al. | β | 2003 | β |
| Optimising restriction enzyme cleavage of DNA derived from archival histopathological samples: an improved HUMARA assay. | Jovanovic L et al. | β | 2003 | β |
| Quantitative RT-PCR in cirrhotic nodules reveals gene expression changes associated with liver carcinogenesis. | Colombat M et al. | β | 2003 | β |
| Resolution of clonal origins for endometriotic lesions using laser capture microdissection and the human androgen receptor (HUMARA) assay. | Wu Y et al. | β | 2003 | β |
| Rett syndrome in a 47,XXX patient with a de novo MECP2 mutation. | Hammer S et al. | β | 2003 | β |
| Rett syndrome in adolescent and adult females: clinical and molecular genetic findings. | Smeets E et al. | β | 2003 | β |
| Severe phenotype of chronic granulomatous disease presenting in a female with a de novo mutation in gp91-phox and a non familial, extremely skewed X chromosome inactivation. | Anderson-Cohen M et al. | β | 2003 | β |
| Skewed X chromosome inactivation in carriers is not a constant finding in FG syndrome. | Raynaud M et al. | β | 2003 | β |
| Skewed X-chromosome inactivation is associated with trisomy in women ascertained on the basis of recurrent spontaneous abortion or chromosomally abnormal pregnancies. | Beever CL et al. | β | 2003 | β |
| Skewed X-chromosome inactivation pattern in SRY positive XX maleness: a case report and review of literature. | Bouayed Abdelmoula N et al. | β | 2003 | β |
| Somatic mosaicism and variable penetrance in doublecortin-associated migration disorders. | Aigner L et al. | β | 2003 | β |
| Stocco dos Santos X-linked mental retardation syndrome: clinical elucidation and localization to Xp11.3-Xq21.3. | Stocco dos Santos RC et al. | β | 2003 | β |
| Successful treatment of multicentric reticulohistiocytosis with alendronate: evidence for a direct effect of bisphosphonate on histiocytes. | Goto H et al. | β | 2003 | β |
| The roles of supernumerical X chromosomes and XIST expression in testicular germ cell tumors. | Kawakami T et al. | β | 2003 | β |
| Two 48,XXYY patients: clinical, cytogenetic and molecular aspects. | Zelante L et al. | β | 2003 | β |
| Wiskott-Aldrich syndrome in a female with skewed X-chromosome inactivation. | Andreu N et al. | β | 2003 | β |
| X chromosome inactivation in cervical cancer patients. | Kristiansen M et al. | β | 2003 | β |
| X chromosome inactivation patterns in Russell-Silver syndrome patients and their mothers. | Beever CL et al. | β | 2003 | β |
| X-chromosome inactivation (XCI) patterns in placental tissues of a paternally derived bal t(X;20) case. | PeΓ±aherrera MS et al. | β | 2003 | β |
| X-inactivation pattern in multiple tissues from two Leber's hereditary optic neuropathy (LHON) patients. | Pegoraro E et al. | β | 2003 | β |
| X-inactivation patterns in carriers of X-linked myotubular myopathy. | Kristiansen M et al. | β | 2003 | β |
| X-inactivation patterns in human embryonic and extra-embryonic tissues. | Zeng SM et al. | β | 2003 | β |
| 7-Deaza-2'-deoxyguanosine allows PCR and sequencing reactions from CpG islands. | Jung A et al. | β | 2002 | β |
| Acquired skewing of Lyonization remains stable for a prolonged period in healthy blood donors. | van Dijk JP et al. | β | 2002 | β |
| Alport syndrome and mental retardation: clinical and genetic dissection of the contiguous gene deletion syndrome in Xq22.3 (ATS-MR). | Meloni I et al. | β | 2002 | β |
| A mutation hot spot for nonspecific X-linked mental retardation in the MECP2 gene causes the PPM-X syndrome. | Klauck SM et al. | β | 2002 | β |
| Analysis of the progression of fibroepithelial tumours of the breast by PCR-based clonality assay. | Kuijper A et al. | β | 2002 | β |
| An androgen receptor gene mutation (E653K) in a family with congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency as well as in partial androgen insensitivity. | Giwercman YL et al. | β | 2002 | β |
| A new MRXS locus maps to the X chromosome pericentromeric region: a new syndrome or narrow definition of Sutherland-Haan genetic locus? | Fichera M et al. | β | 2002 | β |
| A novel, essential control for clonality analysis with human androgen receptor gene polymerase chain reaction. | van Dijk JP et al. | β | 2002 | β |
| Balanced X chromosome inactivation patterns in the Rett syndrome brain. | Shahbazian MD et al. | β | 2002 | β |
| Clinicopathologic study of 123 cases of prolactin-secreting pituitary adenomas with special reference to multihormone production and clonality of the adenomas. | Ma W et al. | β | 2002 | β |
| Clonal analysis and mutations in the PTEN and the K-ras genes in endometrial hyperplasia. | Sun H et al. | β | 2002 | β |
| Clonality analysis in synchronous or metachronous tumors of the female genital tract. | Matias-Guiu X et al. | β | 2002 | β |
| Clonality analysis in synchronous tumors of the female genital tract. | Prat J | β | 2002 | β |
| Clonality of combined tumors. | Huang J et al. | β | 2002 | β |
| Clonality of multifocal urothelial carcinomas: 10 years of molecular genetic studies. | Hafner C et al. | β | 2002 | β |
| Cognitive function in Coffin-Lowry syndrome. | Simensen RJ et al. | β | 2002 | β |
| Conjoined twins in a monozygotic triplet pregnancy: prenatal diagnosis and X-inactivation. | Zeng SM et al. | β | 2002 | β |
| del(X)(p22.1)/r(X)(p22.1q28) Dynamic mosaicism in a Turner syndrome patient. | GutiΓ©rrez-Angulo M et al. | β | 2002 | β |
| Early hematopoietic reconstitution after clinical stem cell transplantation: evidence for stochastic stem cell behavior and limited acceleration in telomere loss. | Thornley I et al. | β | 2002 | β |
| Erdheim-Chester disease: case report, PCR-based analysis of clonality, and review of literature. | Al-Quran S et al. | β | 2002 | β |
| Estimation of size of clonal unit for keratinocytes in normal human skin. | Chaturvedi V et al. | β | 2002 | β |
| Gene expression patterns vary in clonal cell cultures from Rett syndrome females with eight different MECP2 mutations. | Traynor J et al. | β | 2002 | β |
| Genomic rearrangements resulting in PLP1 deletion occur by nonhomologous end joining and cause different dysmyelinating phenotypes in males and females. | Inoue K et al. | β | 2002 | β |
| Giles F. Filley Lecture. Genetics and gene expression in lymphangioleiomyomatosis. | Pacheco-Rodriguez G et al. | β | 2002 | β |
| High frequency of skewed X inactivation in young breast cancer patients. | Kristiansen M et al. | β | 2002 | β |
| Identification of a family with nonspecific mental retardation (MRX79) with the A140V mutation in the MECP2 gene: is there a need for routine screening? | Winnepenninckx B et al. | β | 2002 | β |
| Increased gene dosage at Xq26-q27 is associated with X-linked hypopituitarism. | Solomon NM et al. | β | 2002 | β |
| In-frame deletion in MECP2 causes mild nonspecific mental retardation. | Yntema HG et al. | β | 2002 | β |
| Lack of expression of XIST from a small ring X chromosome containing the XIST locus in a girl with short stature, facial dysmorphism and developmental delay. | Tomkins DJ et al. | β | 2002 | β |
| Linear and whorled nevoid hypermelanosis with bilateral giant cerebral aneurysms. | MΓ©garbanΓ© A et al. | β | 2002 | β |
| Monoclonal constitution of neutrophils detected by PCR-based human androgen receptor gene assay in a subset of idiopathic thrombocytopenic purpura patients. | Sashida G et al. | β | 2002 | β |
| MRX42: two linkage intervals, one in the pericentromeric region and one in Xq26, and the impact for carrier risk estimation. | Golla A et al. | β | 2002 | β |
| Origin of amnion and implications for evaluation of the fetal genotype in cases of mosaicism. | Robinson WP et al. | β | 2002 | β |
| Osteopathia striata cranial sclerosis: non-random X-inactivation suggestive of X-linked dominant inheritance. | Viot G et al. | β | 2002 | β |
| Parental origin of normal X chromosomes in Turner syndrome patients with various karyotypes: implications for the mechanism leading to generation of a 45,X karyotype. | Uematsu A et al. | β | 2002 | β |
| Partial Xp duplication in a girl with dysmorphic features: the change in replication pattern of late-replicating dupX chromosome. | Kokalj Vokac N et al. | β | 2002 | β |
| Pathogenesis of hereditary tumors: beyond the "two-hit" hypothesis. | Tucker T et al. | β | 2002 | β |
| Phenotypic variation in Melnick-Needles syndrome is not reflected in X inactivation patterns from blood or buccal smear. | Kristiansen M et al. | β | 2002 | β |
| Polyclonal nature of diffuse proliferation of interstitial cells of Cajal in patients with familial and multiple gastrointestinal stromal tumours. | Chen H et al. | β | 2002 | β |
| Polyclonal normal hematopoietic progenitors in patients with acute myeloid leukemia. | Guan Y et al. | β | 2002 | β |
| Predictive values of X-chromosome inactivation patterns and clinicohematologic parameters for vascular complications in female patients with essential thrombocythemia. | Shih LY et al. | β | 2002 | β |
| Rapid scanning of myotubularin (MTM1) gene by denaturing high-performance liquid chromatography (DHPLC). | Flex E et al. | β | 2002 | β |
| Skewed X-chromosome inactivation in monochorionic diamniotic twin sisters results in severe and mild hemophilia A. | Valleix S et al. | β | 2002 | β |
| Skewed X-chromosome inactivation is a common feature of X-linked mental retardation disorders. | Plenge RM et al. | β | 2002 | β |
| Somatic mutation of vascular endothelial growth factor receptors in juvenile hemangioma. | Walter JW et al. | β | 2002 | β |
| Some tumors of the bladder are polyclonal in origin. | Paiss T et al. | β | 2002 | β |
| Telomeres, X-inactivation ratios, and hematopoietic stem cell transplantation in humans: a review. | Thornley I et al. | β | 2002 | β |
| Therapy-related myelodysplastic syndrome after autologous stem cell transplantation for breast cancer. | Nichols G et al. | β | 2002 | β |
| Wiskott-Aldrich syndrome in a female. | Lutskiy MI et al. | β | 2002 | β |
| Analysis of the distribution of CAG repeats and X-chromosome inactivation status of HUMARA gene in healthy female subjects using improved fluorescence-based assay. | Karasawa M et al. | β | 2001 | β |
| A new assay for the analysis of X-chromosome inactivation in carriers with an X-linked disease. | Kubota T | β | 2001 | β |
| Biology of the X chromosome. | Gartler SM et al. | β | 2001 | β |
| Bisulfite genomic sequencing of microdissected cells. | Kerjean A et al. | β | 2001 | β |
| Carcinosarcoma of the uterus: immunohistochemical and genetic analysis of clonality of one case. | Watanabe M et al. | β | 2001 | β |
| Clonal composition of human adamantinomatous craniopharyngiomas and somatic mutation analyses of the patched (PTCH), Gsalpha and Gi2alpha genes. | Sarubi JC et al. | β | 2001 | β |
| Clonality and field cancerization in intraductal papillary-mucinous tumors of the pancreas. | Izawa T et al. | β | 2001 | β |
| Clonality assay of hematopoietic disorders: significance of the buccal epithelium as non-hematopoietic control and of 95% rejection limit as a novel criterion for monoclonality. | Inagaki H et al. | β | 2001 | β |
| Clonal origins of human breast cancer. | Going JJ et al. | β | 2001 | β |
| Compensating for central nervous system dysmyelination: females with a proteolipid protein gene duplication and sustained clinical improvement. | Inoue K et al. | β | 2001 | β |
| Contribution of the microvessel network to the clonal and kinetic profiles of adrenal cortical proliferative lesions. | Diaz-Cano SJ et al. | β | 2001 | β |
| Incomplete penetrance with normal MRI in a woman with germline mutation of the DCX gene. | Demelas L et al. | β | 2001 | β |
| Limb girdle and facial weakness in female carriers of X-linked myotubular myopathy mutations. | Sutton IJ et al. | β | 2001 | β |
| Medullary carcinomas of the thyroid: a monoclonal origin. | Marques AR et al. | β | 2001 | β |
| Molecular-cytogenetic investigation of skewed chromosome X inactivation in Rett syndrome. | Yurov YB et al. | β | 2001 | β |
| Molecular evidence for the independent origin of extra-ovarian papillary serous tumors of low malignant potential. | Gu J et al. | β | 2001 | β |
| Molecular genetic evidence for different clonal origin of components of human renal angiomyolipomas. | Cheng L et al. | β | 2001 | β |
| Monoclonality of endocrine tumours: What does it mean? | Levy A | β | 2001 | β |
| Primary cutaneous Langerhans cell histiocytosis showing malignant phenotype in an elderly woman: report of a fatal case. | Itoh H et al. | β | 2001 | β |
| Survey of somatic mutations in tuberous sclerosis complex (TSC) hamartomas suggests different genetic mechanisms for pathogenesis of TSC lesions. | Niida Y et al. | β | 2001 | β |
| The androgen receptor and DXS15-134 markers show a high rate of discordance for germline X chromosome inactivation. | Mahavni V et al. | β | 2001 | β |
| X chromosome methylation-based chimerism assay for sex-mismatched hematopoietic stem cell transplantation. | Yamane A et al. | β | 2001 | β |