|
| Entrez Id: |
4851 |
| Gene Symbol: |
NOTCH1 |
NOTCH1
|
Dysmorphic features
|
0.100 |
CausalMutation |
CLINVAR |
Evidence of Aortopathy in Mice with Haploinsufficiency of Notch1 in Nos3-Null Background.
|
25914885 |
2019 |
|
| Entrez Id: |
4851 |
| Gene Symbol: |
NOTCH1 |
NOTCH1
|
Dysmorphic features
|
0.100 |
CausalMutation |
CLINVAR |
Adams-Oliver syndrome review of the literature: Refining the diagnostic phenotype.
|
28160419 |
2017 |
|
| Entrez Id: |
4851 |
| Gene Symbol: |
NOTCH1 |
NOTCH1
|
Dysmorphic features
|
0.100 |
CausalMutation |
CLINVAR |
Haploinsufficiency of the NOTCH1 Receptor as a Cause of Adams-Oliver Syndrome With Variable Cardiac Anomalies.
|
25963545 |
2015 |
|
| Entrez Id: |
4851 |
| Gene Symbol: |
NOTCH1 |
NOTCH1
|
Dysmorphic features
|
0.100 |
CausalMutation |
CLINVAR |
Nodular regenerative hyperplasia in a patient with generalized essential telangiectasia: endotheliopathy as a causal factor.
|
24273032 |
2014 |
|
| Entrez Id: |
4851 |
| Gene Symbol: |
NOTCH1 |
NOTCH1
|
Dysmorphic features
|
0.100 |
CausalMutation |
CLINVAR |
Mutations in NOTCH1 cause Adams-Oliver syndrome.
|
25132448 |
2014 |
|
| Entrez Id: |
4851 |
| Gene Symbol: |
NOTCH1 |
NOTCH1
|
Dysmorphic features
|
0.100 |
CausalMutation |
CLINVAR |
Severe phenotype in two half-sibs with Adams Oliver syndrome.
|
24862819 |
2014 |
|
| Entrez Id: |
4851 |
| Gene Symbol: |
NOTCH1 |
NOTCH1
|
Dysmorphic features
|
0.100 |
CausalMutation |
CLINVAR |
Expanding the phenotype of cardiovascular malformations in Adams-Oliver syndrome.
|
23613382 |
2013 |
|
| Entrez Id: |
4851 |
| Gene Symbol: |
NOTCH1 |
NOTCH1
|
Dysmorphic features
|
0.100 |
CausalMutation |
CLINVAR |
Sequencing of NOTCH1, GATA5, TGFBR1 and TGFBR2 genes in familial cases of bicuspid aortic valve.
|
23578328 |
2013 |
|
| Entrez Id: |
4851 |
| Gene Symbol: |
NOTCH1 |
NOTCH1
|
Dysmorphic features
|
0.100 |
CausalMutation |
CLINVAR |
Human gene copy number spectra analysis in congenital heart malformations.
|
22318994 |
2012 |
|
| Entrez Id: |
4851 |
| Gene Symbol: |
NOTCH1 |
NOTCH1
|
Dysmorphic features
|
0.100 |
CausalMutation |
CLINVAR |
Disruption of Notch1 induces vascular remodeling, intussusceptive angiogenesis, and angiosarcomas in livers of mice.
|
22245843 |
2012 |
|
| Entrez Id: |
4851 |
| Gene Symbol: |
NOTCH1 |
NOTCH1
|
Dysmorphic features
|
0.100 |
CausalMutation |
CLINVAR |
Identification of de novo mutations and rare variants in hypoplastic left heart syndrome.
|
21457232 |
2012 |
|
| Entrez Id: |
4851 |
| Gene Symbol: |
NOTCH1 |
NOTCH1
|
Dysmorphic features
|
0.100 |
CausalMutation |
CLINVAR |
The spectra of clinical phenotypes in aplasia cutis congenita and terminal transverse limb defects.
|
19610107 |
2009 |
|
| Entrez Id: |
4851 |
| Gene Symbol: |
NOTCH1 |
NOTCH1
|
Dysmorphic features
|
0.100 |
CausalMutation |
CLINVAR |
De novo copy number variants identify new genes and loci in isolated sporadic tetralogy of Fallot.
|
19597493 |
2009 |
|
| Entrez Id: |
4851 |
| Gene Symbol: |
NOTCH1 |
NOTCH1
|
Dysmorphic features
|
0.100 |
CausalMutation |
CLINVAR |
NOTCH1 mutations in individuals with left ventricular outflow tract malformations reduce ligand-induced signaling.
|
18593716 |
2008 |
|
| Entrez Id: |
4851 |
| Gene Symbol: |
NOTCH1 |
NOTCH1
|
Dysmorphic features
|
0.100 |
CausalMutation |
CLINVAR |
Novel NOTCH1 mutations in patients with bicuspid aortic valve disease and thoracic aortic aneurysms.
|
17662764 |
2007 |
|
| Entrez Id: |
4851 |
| Gene Symbol: |
NOTCH1 |
NOTCH1
|
Dysmorphic features
|
0.100 |
CausalMutation |
CLINVAR |
Novel missense mutations (p.T596M and p.P1797H) in NOTCH1 in patients with bicuspid aortic valve.
|
16729972 |
2006 |
|
| Entrez Id: |
4851 |
| Gene Symbol: |
NOTCH1 |
NOTCH1
|
Dysmorphic features
|
0.100 |
CausalMutation |
CLINVAR |
Mutations in NOTCH1 cause aortic valve disease.
|
16025100 |
2005 |
|
| Entrez Id: |
4851 |
| Gene Symbol: |
NOTCH1 |
NOTCH1
|
Dysmorphic features
|
0.100 |
CausalMutation |
CLINVAR |
Polymicrogyria associated with scalp and limb defects: variant of Adams-Oliver syndrome.
|
10946361 |
2000 |
|
| Entrez Id: |
4851 |
| Gene Symbol: |
NOTCH1 |
NOTCH1
|
Dysmorphic features
|
0.100 |
CausalMutation |
CLINVAR |
Notch signaling: cell fate control and signal integration in development.
|
10221902 |
1999 |