Variant: rs1348892740 

    present in Gene: NOTCH1
    present in Chromosome: 9
    Position on Chromosome: 136523954
    Alleles of this Variant: G/A

rs1348892740 in NOTCH1 gene and Multiple congenital anomalies PMID 19597493 2009 De novo copy number variants identify new genes and loci in isolated sporadic tetralogy of Fallot.

PMID 22318994 2012 Human gene copy number spectra analysis in congenital heart malformations.

PMID 10946361 2000 Polymicrogyria associated with scalp and limb defects: variant of Adams-Oliver syndrome.

PMID 22245843 2012 Disruption of Notch1 induces vascular remodeling, intussusceptive angiogenesis, and angiosarcomas in livers of mice.

PMID 21457232 2012 Identification of de novo mutations and rare variants in hypoplastic left heart syndrome.

PMID 19610107 2009 The spectra of clinical phenotypes in aplasia cutis congenita and terminal transverse limb defects.

PMID 18593716 2008 NOTCH1 mutations in individuals with left ventricular outflow tract malformations reduce ligand-induced signaling.

PMID 17662764 2007 Novel NOTCH1 mutations in patients with bicuspid aortic valve disease and thoracic aortic aneurysms.

PMID 16729972 2006 Novel missense mutations (p.T596M and p.P1797H) in NOTCH1 in patients with bicuspid aortic valve.

PMID 10221902 1999 Notch signaling: cell fate control and signal integration in development.

PMID 16025100 2005 Mutations in NOTCH1 cause aortic valve disease.

PMID 23578328 2013 Sequencing of NOTCH1, GATA5, TGFBR1 and TGFBR2 genes in familial cases of bicuspid aortic valve.

PMID 24273032 2014 Nodular regenerative hyperplasia in a patient with generalized essential telangiectasia: endotheliopathy as a causal factor.

PMID 23613382 2013 Expanding the phenotype of cardiovascular malformations in Adams-Oliver syndrome.

PMID 28160419 2017 Adams-Oliver syndrome review of the literature: Refining the diagnostic phenotype.

PMID 24862819 2014 Severe phenotype in two half-sibs with Adams Oliver syndrome.

PMID 25132448 2014 Mutations in NOTCH1 cause Adams-Oliver syndrome.

PMID 25914885 2019 Evidence of Aortopathy in Mice with Haploinsufficiency of Notch1 in Nos3-Null Background.

PMID 25963545 2015 Haploinsufficiency of the NOTCH1 Receptor as a Cause of Adams-Oliver Syndrome With Variable Cardiac Anomalies.