|
Noonan Syndrome 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Structural, Functional, and Clinical Characterization of a Novel PTPN11 Mutation Cluster Underlying Noonan Syndrome.
|
28074573 |
2017 |
|
Noonan Syndrome 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC).
|
25173338 |
2014 |
|
Noonan Syndrome 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A PTPN11 allele encoding a catalytically impaired SHP2 protein in a patient with a Noonan syndrome phenotype.
|
24891296 |
2014 |
|
Noonan Syndrome 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Noonan syndrome: clinical features, diagnosis, and management guidelines.
|
20876176 |
2010 |
|
Noonan Syndrome 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
PTPN11, SOS1, KRAS, and RAF1 gene analysis, and genotype-phenotype correlation in Korean patients with Noonan syndrome.
|
19020799 |
2008 |
|
Noonan Syndrome 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A novel mutation in the PTPN11 gene in a patient with Noonan syndrome and rapidly progressive hypertrophic cardiomyopathy.
|
15889278 |
2005 |
|
Noonan Syndrome 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Neurofibromatosis-Noonan syndrome: molecular evidence of the concurrence of both disorders in a patient.
|
15948193 |
2005 |
|
Noonan Syndrome 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Clinical variability in a Noonan syndrome family with a new PTPN11 gene mutation.
|
15384080 |
2004 |
|
Noonan Syndrome 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Spectrum of mutations in PTPN11 and genotype-phenotype correlation in 96 patients with Noonan syndrome and five patients with cardio-facio-cutaneous syndrome.
|
12634870 |
2003 |
|
Noonan Syndrome 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Correlation between PTPN11 gene mutations and congenital heart defects in Noonan and LEOPARD syndromes.
|
12960218 |
2003 |
|
Noonan Syndrome 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Noonan syndrome with leukaemoid reaction and overproduction of catecholamines: a case report.
|
12739139 |
2003 |
|
Noonan Syndrome 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
PTPN11 mutation in a large family with Noonan syndrome and dizygous twinning.
|
12529711 |
2003 |
|
Noonan Syndrome 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Somatic mutations in PTPN11 in juvenile myelomonocytic leukemia, myelodysplastic syndromes and acute myeloid leukemia.
|
12717436 |
2003 |
|
Noonan Syndrome 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
PTPN11 mutations in Noonan syndrome type I: detection of recurrent mutations in exons 3 and 13.
|
12325025 |
2002 |
|
Noonan Syndrome 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity.
|
11992261 |
2002 |
|
Noonan Syndrome 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
PTPN11 (protein-tyrosine phosphatase, nonreceptor-type 11) mutations in seven Japanese patients with Noonan syndrome.
|
12161469 |
2002 |
|
Noonan Syndrome 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome.
|
11704759 |
2001 |
|
Noonan Syndrome 1
|
|
0.800 |
CausalMutation
|
CLINVAR |
|
|
|
|
Noonan Syndrome
|
|
0.730 |
CausalMutation
|
CLINVAR |
Previously, we found that expression of the mutated protein SHP2 Q79R in the heart led to a phenotypic presentation that mimicked some aspects of NS and that this was dependent upon activation of the ERK1/2 pathway.
|
19706403 |
2009 |
|
Noonan Syndrome
|
|
0.730 |
CausalMutation
|
CLINVAR |
We created a NS mouse model with selective overexpression of mutant Shp2 (Q79R-Shp2) in the developing endocardial cushions.
|
19017799 |
2008 |
|
Noonan Syndrome
|
|
0.730 |
GeneticVariation
|
BEFREE |
We created a NS mouse model with selective overexpression of mutant Shp2 (Q79R-Shp2) in the developing endocardial cushions.
|
19017799 |
2008 |
|
Noonan Syndrome
|
|
0.730 |
CausalMutation
|
CLINVAR |
Our data establish the developmental stage-specific effects of Q79R cardiac expression in NS; show that ablation of subsequent ERK1/2 activation prevents the development of cardiac abnormalities; and suggest that ERK1/2 modulation could have important implications for developing therapeutic strategies in CHD.
|
17641779 |
2007 |
|
Noonan Syndrome
|
|
0.730 |
GeneticVariation
|
BEFREE |
Our data establish the developmental stage-specific effects of Q79R cardiac expression in NS; show that ablation of subsequent ERK1/2 activation prevents the development of cardiac abnormalities; and suggest that ERK1/2 modulation could have important implications for developing therapeutic strategies in CHD.
|
17641779 |
2007 |
|
Noonan Syndrome
|
|
0.730 |
CausalMutation
|
CLINVAR |
PTPN11 gene analysis in 74 Brazilian patients with Noonan syndrome or Noonan-like phenotype.
|
17020470 |
2006 |
|
Noonan Syndrome
|
|
0.730 |
CausalMutation
|
CLINVAR |
The Q79R mutation of PTPN11 previously identified in Noonan syndrome families results in a gain-of-function of the encoded protein tyrosine phosphatase Shp2.
|
16166557 |
2005 |