|
| Entrez Id: |
6654 |
| Gene Symbol: |
SOS1 |
SOS1
|
Noonan Syndrome
|
1.000 |
CausalMutation |
CLINVAR |
Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder.
|
30266093 |
2018 |
|
| Entrez Id: |
6654 |
| Gene Symbol: |
SOS1 |
SOS1
|
Noonan Syndrome
|
1.000 |
CausalMutation |
CLINVAR |
ClinGen's RASopathy Expert Panel consensus methods for variant interpretation.
|
29493581 |
2018 |
|
| Entrez Id: |
6654 |
| Gene Symbol: |
SOS1 |
SOS1
|
Noonan Syndrome
|
1.000 |
CausalMutation |
CLINVAR |
Psychopathological features in Noonan syndrome.
|
29037749 |
2018 |
|
| Entrez Id: |
6654 |
| Gene Symbol: |
SOS1 |
SOS1
|
Noonan Syndrome
|
1.000 |
CausalMutation |
CLINVAR |
Visual perception skills: a comparison between patients with Noonan syndrome and 22q11.2 deletion syndrome.
|
28378436 |
2017 |
|
| Entrez Id: |
6654 |
| Gene Symbol: |
SOS1 |
SOS1
|
Noonan Syndrome
|
1.000 |
CausalMutation |
CLINVAR |
Coronary artery ectasia in Noonan syndrome: Report of an individual with SOS1 mutation and literature review.
|
26686981 |
2016 |
|
| Entrez Id: |
6654 |
| Gene Symbol: |
SOS1 |
SOS1
|
Noonan Syndrome
|
1.000 |
CausalMutation |
CLINVAR |
Retrospective study of prenatal ultrasound findings in newborns with a Noonan spectrum disorder.
|
26918529 |
2016 |
|
| Entrez Id: |
6654 |
| Gene Symbol: |
SOS1 |
SOS1
|
Noonan Syndrome
|
1.000 |
CausalMutation |
CLINVAR |
RASopathy Gene Mutations in Melanoma.
|
27236105 |
2016 |
|
| Entrez Id: |
6654 |
| Gene Symbol: |
SOS1 |
SOS1
|
Noonan Syndrome
|
1.000 |
CausalMutation |
CLINVAR |
Exome sequencing identifies recurrent mutations in NF1 and RASopathy genes in sun-exposed melanomas.
|
26214590 |
2015 |
|
| Entrez Id: |
6654 |
| Gene Symbol: |
SOS1 |
SOS1
|
Noonan Syndrome
|
1.000 |
GeneticVariation |
CLINVAR |
Structure-energy-based predictions and network modelling of RASopathy and cancer missense mutations.
|
24803665 |
2014 |
|
| Entrez Id: |
6654 |
| Gene Symbol: |
SOS1 |
SOS1
|
Noonan Syndrome
|
1.000 |
GeneticVariation |
CLINVAR |
A quantitative liposome microarray to systematically characterize protein-lipid interactions.
|
24270602 |
2014 |
|
| Entrez Id: |
6654 |
| Gene Symbol: |
SOS1 |
SOS1
|
Noonan Syndrome
|
1.000 |
CausalMutation |
CLINVAR |
Mutations in PTPN11 and SOS1 genes were found in patients with diagnosis of NS and BRAF gene mutations in patients with CFC syndrome.
|
25337068 |
2014 |
|
| Entrez Id: |
6654 |
| Gene Symbol: |
SOS1 |
SOS1
|
Noonan Syndrome
|
1.000 |
CausalMutation |
CLINVAR |
CIIA negatively regulates the Ras-Erk1/2 signaling pathway through inhibiting the Ras-specific GEF activity of SOS1.
|
24522193 |
2014 |
|
| Entrez Id: |
6654 |
| Gene Symbol: |
SOS1 |
SOS1
|
Noonan Syndrome
|
1.000 |
CausalMutation |
CLINVAR |
NMR-based functional profiling of RASopathies and oncogenic RAS mutations.
|
23487764 |
2013 |
|
| Entrez Id: |
6654 |
| Gene Symbol: |
SOS1 |
SOS1
|
Noonan Syndrome
|
1.000 |
GeneticVariation |
CLINVAR |
NMR-based functional profiling of RASopathies and oncogenic RAS mutations.
|
23487764 |
2013 |
|
| Entrez Id: |
6654 |
| Gene Symbol: |
SOS1 |
SOS1
|
Noonan Syndrome
|
1.000 |
CausalMutation |
CLINVAR |
Ulerythema ophryogenes, a rarely reported cutaneous manifestation of noonan syndrome: case report and review of the literature.
|
23673306 |
2013 |
|
| Entrez Id: |
6654 |
| Gene Symbol: |
SOS1 |
SOS1
|
Noonan Syndrome
|
1.000 |
GeneticVariation |
CLINVAR |
Interaction domains of Sos1/Grb2 are finely tuned for cooperative control of embryonic stem cell fate.
|
23452850 |
2013 |
|
| Entrez Id: |
6654 |
| Gene Symbol: |
SOS1 |
SOS1
|
Noonan Syndrome
|
1.000 |
CausalMutation |
CLINVAR |
Alterations in RAS-MAPK genes in 200 Spanish patients with Noonan and other neuro-cardio-facio-cutaneous syndromes. Genotype and cardiopathy.
|
22465605 |
2012 |
|
| Entrez Id: |
6654 |
| Gene Symbol: |
SOS1 |
SOS1
|
Noonan Syndrome
|
1.000 |
CausalMutation |
CLINVAR |
Long term memory profile of disorders associated with dysregulation of the RAS-MAPK signaling cascade.
|
21274610 |
2011 |
|
| Entrez Id: |
6654 |
| Gene Symbol: |
SOS1 |
SOS1
|
Noonan Syndrome
|
1.000 |
GeneticVariation |
CLINVAR |
Recently, we and others identified SOS1 as a major gene underlying NS.
|
21387466 |
2011 |
|
| Entrez Id: |
6654 |
| Gene Symbol: |
SOS1 |
SOS1
|
Noonan Syndrome
|
1.000 |
GeneticVariation |
CLINVAR |
Two cases of Noonan syndrome with severe respiratory and gastroenteral involvement and the SOS1 mutation F623I.
|
20673819 |
2011 |
|
| Entrez Id: |
6654 |
| Gene Symbol: |
SOS1 |
SOS1
|
Noonan Syndrome
|
1.000 |
CausalMutation |
CLINVAR |
Spectrum of mutations in Noonan syndrome and their correlation with phenotypes.
|
21784453 |
2011 |
|
| Entrez Id: |
6654 |
| Gene Symbol: |
SOS1 |
SOS1
|
Noonan Syndrome
|
1.000 |
CausalMutation |
CLINVAR |
Recently, we and others identified SOS1 as a major gene underlying NS.
|
21387466 |
2011 |
|
| Entrez Id: |
6654 |
| Gene Symbol: |
SOS1 |
SOS1
|
Noonan Syndrome
|
1.000 |
CausalMutation |
CLINVAR |
RASopathies: Clinical Diagnosis in the First Year of Life.
|
22190897 |
2011 |
|
| Entrez Id: |
6654 |
| Gene Symbol: |
SOS1 |
SOS1
|
Noonan Syndrome
|
1.000 |
CausalMutation |
CLINVAR |
To understand the role of SOS1 in the pathogenesis of NS, we generated mice with the NS-associated Sos1E846K gain-of-function mutation.
|
21041952 |
2010 |
|
| Entrez Id: |
6654 |
| Gene Symbol: |
SOS1 |
SOS1
|
Noonan Syndrome
|
1.000 |
CausalMutation |
CLINVAR |
Co-occurring PTPN11 and SOS1 gene mutations in Noonan syndrome: does this predict a more severe phenotype?
|
21340158 |
2010 |