×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome
1.000
CausalMutation
CLINVAR
Functional evaluation of circulating hematopoietic progenitors in Noonan syndrome.
23756559
2013
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome
1.000
CausalMutation
CLINVAR
Gain-of-function/Noonan syndrome SHP-2/Ptpn11 mutants enhance calcium oscillations and impair NFAT signaling.
16461457
2006
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome
1.000
GeneticVariation
CLINVAR
Genetic evaluation and management of fetal chylothorax: review and insights from a case of Noonan syndrome.
19927903
2009
×
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
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
Genotype differences in cognitive functioning in Noonan syndrome.
19077116
2009
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome
1.000
GeneticVariation
CLINVAR
Genotype differences in cognitive functioning in Noonan syndrome.
19077116
2009
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome
1.000
CausalMutation
CLINVAR
Genotype-phenotype analysis and natural history of left ventricular hypertrophy in LEOPARD syndrome.
18241070
2008
×
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
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
Germinal mosaicism in Noonan syndrome: A family with two affected siblings of normal parents.
20979190
2010
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome
1.000
CausalMutation
CLINVAR
Germline PTPN11 missense mutation in a case of Noonan syndrome associated with mediastinal and retroperitoneal neuroblastic tumors.
18328949
2008
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome
1.000
CausalMutation
CLINVAR
Giant cell lesions in noonan syndrome: case report and review of the literature.
20383758
2010
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome
1.000
CausalMutation
CLINVAR
Grouping of multiple-lentigines/LEOPARD and Noonan syndromes on the PTPN11 gene.
12058348
2002
×
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
Health and quality of life in adults with Noonan syndrome.
22494877
2012
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome
1.000
CausalMutation
CLINVAR
Here, we report on the identification of five different PTPN11 missense changes affecting residues Leu<sup>261</sup> , Leu<sup>262</sup> , and Arg<sup>265</sup> in 16 unrelated individuals with clinical diagnosis of NS or with features suggestive for this disorder, specifying a novel disease-causing mutation cluster.
28074573
2017
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome
1.000
CausalMutation
CLINVAR
Here, we report the spectrum and distribution of PTPN11 mutations in a large, well-characterized cohort with NS .
11992261
2002
×
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
High resolution melting analysis for mutation detection for PTPN11 gene: applications of this method for diagnosis of Noonan syndrome.
19737548
2009
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome
1.000
CausalMutation
CLINVAR
Hodgkin's lymphoma in a patient with Noonan syndrome with germ-line PTPN11 mutations.
18758896
2008
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome
1.000
CausalMutation
CLINVAR
Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains.
28628100
2017
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome
1.000
CausalMutation
CLINVAR
How do Shp2 mutations that oppositely influence its biochemical activity result in syndromes with overlapping symptoms?
17453145
2007
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome
1.000
CausalMutation
CLINVAR
IGF-I generation test in prepubertal children with Noonan syndrome due to mutations in the PTPN11 gene.
23624134
2013
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome
1.000
CausalMutation
CLINVAR
IMAGE CARDIO MED. A patient with LEOPARD syndrome and PTPN11 mutation.
19273734
2009