macrocephaly phenotype
Evidence from:
primary |
all sources
Related entities (3)
| Subject | Relation | Object | p-value | Evidence |
|---|---|---|---|---|
| 16p11.2 deletion | risk_factor_for | macrocephaly | — | 1 |
| 16p11.2 duplication | risk_factor_for | macrocephaly | — | 1 |
| EZH2 | risk_factor_for | macrocephaly | — | 1 |
Mentioned in (20)
Papers in which this entity is mentioned.
- Early neurodevelopment of HIV-exposed uninfected children in the era of antiretroviral therapy: a systematic review and meta-analysis. (2022)
- Whole-genome analysis reveals the contribution of non-coding de novo transposon insertions to autism spectrum disorder. (2021)
- De Novo Missense Variants in FBXW11 Cause Diverse Developmental Phenotypes Including Brain, Eye, and Digit Anomalies. (2019)
- Cerebrospinal fluid and the early brain development of autism. (2018)
- Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes. (2018)
- Novel genetic loci underlying human intracranial volume identified through genome-wide association. (2016)
- Relationships between Head Circumference, Brain Volume and Cognition in Children with Prenatal Alcohol Exposure. (2016)
- Opposite effects on facial morphology due to gene dosage sensitivity. (2014)
- The role of BAF (mSWI/SNF) complexes in mammalian neural development. (2014)
- Plasma cytokine profiling in sibling pairs discordant for autism spectrum disorder. (2013)
- Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism. (2011)
- Facial phenotypes in subgroups of prepubertal boys with autism spectrum disorders are correlated with clinical phenotypes. (2011)
- Magnetic resonance-based imaging in animal models of fetal alcohol spectrum disorder. (2011)
- Elevated plasma cytokines in autism spectrum disorders provide evidence of immune dysfunction and are associated with impaired behavioral outcome. (2011)
- Analysis of genotype-phenotype correlations in human holoprosencephaly. (2010)
- A syndrome of short stature, microcephaly and speech delay is associated with duplications reciprocal to the common Sotos syndrome deletion. (2010)
- Cortical gyrification in autistic and Asperger disorders: a preliminary magnetic resonance imaging study. (2010)
- A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation. (2009)
- A structural MRI study of human brain development from birth to 2 years. (2008)
- Diffusion tensor MR imaging tractography of the pyramidal tracts correlates with clinical motor function in children with congenital hemiparesis. (2007)
Merged raw entities (1)
All extracted name/type variants the normalize job merged into this entity. Use this to spot wrong merges, or aliases that should be split off.
| Raw name | Type | Papers | Mentions |
|---|---|---|---|
| macrocephaly | phenotype | 20 | 41 |