×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome
1.000
CausalMutation
CLINVAR
ClinGen's RASopathy Expert Panel consensus methods for variant interpretation.
29493581
2018
×
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
Targeted/exome sequencing identified mutations in ten Chinese patients diagnosed with Noonan syndrome and related disorders.
29084544
2017
×
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
GeneticVariation
CLINVAR
Progression in patients with low- and intermediate-1-risk del(5q) myelodysplastic syndromes is predicted by a limited subset of mutations.
27884971
2017
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome
1.000
GeneticVariation
CLINVAR
Parallel targeted next generation sequencing of childhood and adult acute myeloid leukemia patients reveals uniform genomic profile of the disease.
27460089
2016
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome
1.000
GeneticVariation
CLINVAR
In this study, twenty Noonan syndrome patients with PTPN11 mutations were included.
26817465
2016
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome
1.000
CausalMutation
CLINVAR
Nonspecific phenotype of Noonan syndrome diagnosed by whole exome sequencing.
25914815
2015
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome
1.000
CausalMutation
CLINVAR
Diagnosis of Noonan syndrome and related disorders using target next generation sequencing.
24451042
2014
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome
1.000
CausalMutation
CLINVAR
Juvenile myelomonocytic leukaemia and Noonan syndrome.
25097206
2014
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome
1.000
CausalMutation
CLINVAR
Clinical and Molecular Findings of Tunisian Patients with RASopathies.
25337068
2014
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome
1.000
CausalMutation
CLINVAR
Structure-energy-based predictions and network modelling of RASopathy and cancer missense mutations.
24803665
2014
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome
1.000
CausalMutation
CLINVAR
Molecular characterization of Chilean patients with a clinical diagnosis of Noonan syndrome.
24150203
2014
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome
1.000
CausalMutation
CLINVAR
Pulmonary interstitial glycogenosis in a patient ultimately diagnosed with Noonan syndrome.
24039098
2014
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome
1.000
CausalMutation
CLINVAR
Structural insights into Noonan/LEOPARD syndrome-related mutants of protein-tyrosine phosphatase SHP2 (PTPN11).
24628801
2014
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome
1.000
CausalMutation
CLINVAR
Noonan and LEOPARD syndrome Shp2 variants induce heart displacement defects in zebrafish.
24718990
2014
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome
1.000
CausalMutation
CLINVAR
A new mutation in the C-SH2 domain of PTPN11 causes Noonan syndrome with multiple giant cell lesions.
24225993
2014
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome
1.000
CausalMutation
CLINVAR
Mechanism and treatment for learning and memory deficits in mouse models of Noonan syndrome.
25383899
2014
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome
1.000
CausalMutation
CLINVAR
Prenatal diagnostic testing of the Noonan syndrome genes in fetuses with abnormal ultrasound findings.
23321623
2013
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome
1.000
CausalMutation
CLINVAR
Protein tyrosine phosphatase SHP2/PTPN11 mistargeting as a consequence of SH2-domain point mutations associated with Noonan Syndrome and leukemia.
23584145
2013
×
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
Atrioventricular canal defect in patients with RASopathies.
22781091
2013
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome
1.000
GeneticVariation
CLINVAR
The integrated landscape of driver genomic alterations in glioblastoma.
23917401
2013
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome
1.000
CausalMutation
CLINVAR
Clinical and molecular analysis of RASopathies in a group of Turkish patients.
22420426
2013
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome
1.000
GeneticVariation
CLINVAR
Clinical and biological implications of driver mutations in myelodysplastic syndromes.
24030381
2013