×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome
1.000
CausalMutation
CLINVAR
Genetic evidence for lineage-related and differentiation stage-related contribution of somatic PTPN11 mutations to leukemogenesis in childhood acute leukemia.
14982869
2004
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome
1.000
CausalMutation
CLINVAR
Genotype-phenotype correlations in Noonan syndrome.
15001945
2004
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome
1.000
CausalMutation
CLINVAR
Mutations in PTPN11 implicate the SHP-2 phosphatase in leukemogenesis.
14644997
2004
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome
1.000
CausalMutation
CLINVAR
Noonan syndrome-associated SHP2/PTPN11 mutants cause EGF-dependent prolonged GAB1 binding and sustained ERK2/MAPK1 activation.
14974085
2004
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome
1.000
CausalMutation
CLINVAR
PTPN11 mutations in patients with LEOPARD syndrome: a French multicentric experience.
15520399
2004
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome
1.000
GeneticVariation
CLINVAR
Activating mutations of the noonan syndrome-associated SHP2/PTPN11 gene in human solid tumors and adult acute myelogenous leukemia.
15604238
2004
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome
1.000
CausalMutation
CLINVAR
The study design was to conduct a retrospective analysis of 3 yr of hGH treatment and genotyping of PTPN11 in patients with NS .
15956085
2005
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome
1.000
CausalMutation
CLINVAR
High incidence of malformation syndromes in a series of 1,073 children with cancer.
15712196
2005
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome
1.000
CausalMutation
CLINVAR
Half the individuals with Noonan syndrome carry a heterozygous mutation of the nonreceptor-type protein tyrosine phosphatase, Src homology region 2-domain phosphatase-2 (SHP-2 ), encoded by PTPN11 , which has a role in GH receptor signaling.
15985475
2005
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome
1.000
CausalMutation
CLINVAR
These data suggest that there is a genotype/phenotype correlation in the spectrum of PTPN11 mutations found in patients with JMML, NS /MPD, and NS .
15928039
2005
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome
1.000
CausalMutation
CLINVAR
Differences in the prevalence of PTPN11 mutations in FAB M5 paediatric acute myeloid leukaemia.
16115145
2005
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome
1.000
GeneticVariation
CLINVAR
Somatic PTPN11 mutations in childhood acute myeloid leukaemia.
15842656
2005
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome
1.000
CausalMutation
CLINVAR
Genetic heterogeneity in LEOPARD syndrome: two families with no mutations in PTPN11.
15690106
2005
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome
1.000
CausalMutation
CLINVAR
Somatic PTPN11 mutations in childhood acute myeloid leukaemia.
15842656
2005
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome
1.000
CausalMutation
CLINVAR
Phenotypic and genotypic characterisation of Noonan-like/multiple giant cell lesion syndrome.
15689434
2005
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome
1.000
GeneticVariation
CLINVAR
These data suggest that there is a genotype/phenotype correlation in the spectrum of PTPN11 mutations found in patients with JMML, NS /MPD, and NS .
15928039
2005
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome
1.000
CausalMutation
CLINVAR
Noonan syndrome mutation Q79R in Shp2 increases proliferation of valve primordia mesenchymal cells via extracellular signal-regulated kinase 1/2 signaling.
16166557
2005
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome
1.000
CausalMutation
CLINVAR
A novel mutation in the PTPN11 gene in a patient with Noonan syndrome and rapidly progressive hypertrophic cardiomyopathy.
15889278
2005
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome
1.000
CausalMutation
CLINVAR
Genotypic and phenotypic characterization of Noonan syndrome: new data and review of the literature.
15723289
2005
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome
1.000
CausalMutation
CLINVAR
Diverse biochemical properties of Shp2 mutants. Implications for disease phenotypes.
15987685
2005
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome
1.000
CausalMutation
CLINVAR
These results suggest that the pathogenesis of NS and leukemia is associated with enhanced phosphatase activity of mutant SHP-2 .
15834506
2005
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome
1.000
CausalMutation
CLINVAR
Noonan-like syndrome mutations in PTPN11 in patients diagnosed with cherubism.
15996221
2005
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome
1.000
CausalMutation
CLINVAR
Noonan syndrome and related disorders: genetics and pathogenesis.
16124853
2005
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome
1.000
GeneticVariation
CLINVAR
PTPN11, RAS and FLT3 mutations in childhood acute lymphoblastic leukemia.
16533526
2006
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome
1.000
CausalMutation
CLINVAR
Acute myelomonocytic leukemia in a boy with LEOPARD syndrome (PTPN11 gene mutation positive).
16679933
2006