present in Gene: NFIA
present in Chromosome: 1
Position on Chromosome: 61404170
Alleles of this Variant: ACTT/-
rs1553182964 in
NFIA gene and
Movement Disorders
PMID 20673863 2010 Distinct effects of allelic NFIX mutations on nonsense-mediated mRNA decay engender either a Sotos-like or a Marshall-Smith syndrome.
PMID 19763616 2010 A novel 1p31.3p32.2 deletion involving the NFIA gene detected by array CGH in a patient with macrocephaly and hypoplasia of the corpus callosum.
PMID 22301465 2012 Missense mutations in the DNA-binding/dimerization domain of NFIX cause Sotos-like features.
PMID 24098143 2013 Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.
PMID 24657733 2015 Microdeletion of 1p32-p31 involving NFIA in a patient with hypoplastic corpus callosum, ventriculomegaly, seizures and urinary tract defects.
PMID 22542183 2012 De novo gene disruptions in children on the autistic spectrum.
PMID 27081522 2015 Truncating mutation in NFIA causes brain malformation and urinary tract defects.
PMID 24462883 2014 An intragenic deletion of the NFIA gene in a patient with a hypoplastic corpus callosum, craniofacial abnormalities and urinary tract defects.
PMID 24267886 2013 Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism.
PMID 19058033 2009 Nuclear factor one transcription factors in CNS development.
PMID 17530927 2007 NFIA haploinsufficiency is associated with a CNS malformation syndrome and urinary tract defects.
PMID 10518556 1999 Disruption of the murine nuclear factor I-A gene (Nfia) results in perinatal lethality, hydrocephalus, and agenesis of the corpus callosum.
rs1553182964 in
NFIA gene and
Multiple congenital anomalies
PMID 10518556 1999 Disruption of the murine nuclear factor I-A gene (Nfia) results in perinatal lethality, hydrocephalus, and agenesis of the corpus callosum.
PMID 24098143 2013 Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.
PMID 24267886 2013 Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism.
PMID 24462883 2014 An intragenic deletion of the NFIA gene in a patient with a hypoplastic corpus callosum, craniofacial abnormalities and urinary tract defects.
PMID 24657733 2015 Microdeletion of 1p32-p31 involving NFIA in a patient with hypoplastic corpus callosum, ventriculomegaly, seizures and urinary tract defects.
PMID 27081522 2015 Truncating mutation in NFIA causes brain malformation and urinary tract defects.
PMID 22542183 2012 De novo gene disruptions in children on the autistic spectrum.
PMID 19058033 2009 Nuclear factor one transcription factors in CNS development.
PMID 22301465 2012 Missense mutations in the DNA-binding/dimerization domain of NFIX cause Sotos-like features.
PMID 20673863 2010 Distinct effects of allelic NFIX mutations on nonsense-mediated mRNA decay engender either a Sotos-like or a Marshall-Smith syndrome.
PMID 17530927 2007 NFIA haploinsufficiency is associated with a CNS malformation syndrome and urinary tract defects.
PMID 19763616 2010 A novel 1p31.3p32.2 deletion involving the NFIA gene detected by array CGH in a patient with macrocephaly and hypoplasia of the corpus callosum.