×
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
Exome sequencing identifies secondary mutations of SETBP1 and JAK3 in juvenile myelomonocytic leukemia.
23832011
2013
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome
1.000
CausalMutation
CLINVAR
MAPK activation in mature cataract associated with Noonan syndrome.
24219368
2013
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome
1.000
GeneticVariation
CLINVAR
Case report: Noonan syndrome with multiple giant cell lesions and review of the literature.
22848035
2012
×
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
The PTPN11 loss-of-function mutation Q510E-Shp2 causes hypertrophic cardiomyopathy by dysregulating mTOR signaling.
22058153
2012
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome
1.000
CausalMutation
CLINVAR
Phenotypic spectrum of 80 Greek patients referred as Noonan syndrome and PTPN11 mutation analysis: the value of initial clinical assessment.
21590266
2012
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome
1.000
CausalMutation
CLINVAR
Occurrence of acute lymphoblastic leukemia and juvenile myelomonocytic leukemia in a patient with Noonan syndrome carrying the germline PTPN11 mutation p.E139D.
22315187
2012
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome
1.000
CausalMutation
CLINVAR
Noonan syndrome-causing SHP2 mutants inhibit insulin-like growth factor 1 release via growth hormone-induced ERK hyperactivation, which contributes to short stature.
22371576
2012
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome
1.000
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
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome
1.000
GeneticVariation
CLINVAR
Alterations in RAS-MAPK genes in 200 Spanish patients with Noonan and other neuro-cardio-facio-cutaneous syndromes. Genotype and cardiopathy.
22465605
2012
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome
1.000
CausalMutation
CLINVAR
Counteracting effects operating on Src homology 2 domain-containing protein-tyrosine phosphatase 2 (SHP2) function drive selection of the recurrent Y62D and Y63C substitutions in Noonan syndrome.
22711529
2012
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome
1.000
CausalMutation
CLINVAR
[Clinical and molecular study of the Noonan syndrome].
23513489
2012
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome
1.000
GeneticVariation
CLINVAR
Phenotypic spectrum of 80 Greek patients referred as Noonan syndrome and PTPN11 mutation analysis: the value of initial clinical assessment.
21590266
2012
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome
1.000
CausalMutation
CLINVAR
RASopathies: Clinical Diagnosis in the First Year of Life.
22190897
2011
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome
1.000
CausalMutation
CLINVAR
Implantable cardioverter defibrillator for progressive hypertrophic cardiomyopathy in a patient with LEOPARD syndrome and a novel PTPN11 mutation Gln510His.
21910226
2011
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome
1.000
GeneticVariation
CLINVAR
Cancer risk in patients with Noonan syndrome carrying a PTPN11 mutation.
21407260
2011
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome
1.000
CausalMutation
CLINVAR
Lethal presentation of neurofibromatosis and Noonan syndrome.
21567923
2011
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome
1.000
CausalMutation
CLINVAR
Bone resorption in syndromes of the Ras/MAPK pathway.
21204800
2011
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome
1.000
GeneticVariation
CLINVAR
ALK2 mutation in a patient with Down's syndrome and a congenital heart defect.
21248739
2011
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome
1.000
CausalMutation
CLINVAR
LEOPARD Syndrome with PTPN11 Gene Mutation Showing Six Cardinal Symptoms of LEOPARD.
21747628
2011
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome
1.000
CausalMutation
CLINVAR
Rapamycin reverses hypertrophic cardiomyopathy in a mouse model of LEOPARD syndrome-associated PTPN11 mutation.
21339643
2011
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome
1.000
CausalMutation
CLINVAR
LEOPARD syndrome in an infant with severe hypertrophic cardiomyopathy and PTPN11 mutation.
21677813
2011
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome
1.000
CausalMutation
CLINVAR
PTPN11-associated mutations in the heart: has LEOPARD changed Its RASpots?
22681964
2011
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome
1.000
CausalMutation
CLINVAR
LEOPARD-type SHP2 mutant Gln510Glu attenuates cardiomyocyte differentiation and promotes cardiac hypertrophy via dysregulation of Akt/GSK-3β/β-catenin signaling.
21803945
2011