|
Noonan Syndrome
|
|
0.720 |
GeneticVariation
|
BEFREE |
One of the most common protein tyrosine phosphatase-2 (SHP2) mutations in Noonan syndrome is the N308D mutation, and it increases the activity of the protein.
|
30304563 |
2019 |
|
Noonan Syndrome
|
|
0.720 |
GeneticVariation
|
BEFREE |
Redox Regulation of a Gain-of-Function Mutation (N308D) in SHP2 Noonan Syndrome.
|
29214238 |
2017 |
|
Noonan Syndrome
|
|
0.720 |
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 |
|
Noonan Syndrome
|
|
0.720 |
CausalMutation
|
CLINVAR |
Phenotypic spectrum of 80 Greek patients referred as Noonan syndrome and PTPN11 mutation analysis: the value of initial clinical assessment.
|
21590266 |
2012 |
|
Noonan Syndrome
|
|
0.720 |
CausalMutation
|
CLINVAR |
Lethal presentation of neurofibromatosis and Noonan syndrome.
|
21567923 |
2011 |
|
Noonan Syndrome
|
|
0.720 |
CausalMutation
|
CLINVAR |
RASopathies: Clinical Diagnosis in the First Year of Life.
|
22190897 |
2011 |
|
Noonan Syndrome
|
|
0.720 |
CausalMutation
|
CLINVAR |
Cancer risk in patients with Noonan syndrome carrying a PTPN11 mutation.
|
21407260 |
2011 |
|
Noonan Syndrome
|
|
0.720 |
CausalMutation
|
CLINVAR |
Co-occurring PTPN11 and SOS1 gene mutations in Noonan syndrome: does this predict a more severe phenotype?
|
21340158 |
2010 |
|
Noonan Syndrome
|
|
0.720 |
CausalMutation
|
CLINVAR |
Germinal mosaicism in Noonan syndrome: A family with two affected siblings of normal parents.
|
20979190 |
2010 |
|
Noonan Syndrome
|
|
0.720 |
CausalMutation
|
CLINVAR |
Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease.
|
16358218 |
2006 |
|
Noonan Syndrome
|
|
0.720 |
CausalMutation
|
CLINVAR |
Genotypic and phenotypic characterization of Noonan syndrome: new data and review of the literature.
|
15723289 |
2005 |
|
Noonan Syndrome
|
|
0.720 |
CausalMutation
|
CLINVAR |
Genotype-phenotype correlations in Noonan syndrome.
|
15001945 |
2004 |
|
Noonan Syndrome
|
|
0.720 |
CausalMutation
|
CLINVAR |
PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity.
|
11992261 |
2002 |
|
Noonan Syndrome
|
|
0.720 |
CausalMutation
|
CLINVAR |
PTPN11 (protein-tyrosine phosphatase, nonreceptor-type 11) mutations in seven Japanese patients with Noonan syndrome.
|
12161469 |
2002 |
|
Noonan Syndrome
|
|
0.720 |
CausalMutation
|
CLINVAR |
Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome.
|
11704759 |
2001 |