rs121918462
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome
0.740
GeneticVariation
BEFREE
Here, we report a Japanese female infant with NS carrying the PTPN11 T73I mutation with NS /MPD, complete atrio-ventricul ar septal defect, and rapidly progressive HCM.
26286251
2015
rs121918462
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome
T
0.740
CausalMutation
CLINVAR
Noonan and LEOPARD syndrome Shp2 variants induce heart displacement defects in zebrafish.
24718990
2014
rs121918462
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome
T
0.740
CausalMutation
CLINVAR
Juvenile myelomonocytic leukaemia and Noonan syndrome.
25097206
2014
rs121918462
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome
0.740
GeneticVariation
BEFREE
A de novo T73I mutation in PTPN11 in a neonate with severe and prolonged congenital thrombocytopenia and Noonan syndrome .
23446178
2013
rs121918462
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome
T
0.740
CausalMutation
CLINVAR
Relapsed childhood high hyperdiploid acute lymphoblastic leukemia: presence of preleukemic ancestral clones and the secondary nature of microdeletions and RTK-RAS mutations.
20237506
2010
rs121918462
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome
T
0.740
CausalMutation
CLINVAR
We report a patient with classical cardinal features of NS , including short stature, mild ptosis, hypertelorism, down-slating palpebral fissures, low-set and posteriorly angulated ears, short neck, pectus excavatum, widely spaced nipples and cryptochidism, which were associated with bilateral central giant cell lesions in the mandible and germ-line mutation (C218T , Thr73Ile ) in the exon 3 of the PTPN11 gene.
20383758
2010
rs121918462
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome
T
0.740
CausalMutation
CLINVAR
Characterization of acute myeloid leukemia with PTPN11 mutation: the mutation is closely associated with NPM1 mutation but inversely related to FLT3/ITD.
17972951
2008
rs121918462
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome
T
0.740
CausalMutation
CLINVAR
Mutations of FLT3, NRAS, KRAS, and PTPN11 are frequent and possibly mutually exclusive in high hyperdiploid childhood acute lymphoblastic leukemia.
17910045
2008
rs121918462
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome
T
0.740
CausalMutation
CLINVAR
Analysis of the PTPN11 gene in idiopathic short stature children and Noonan syndrome patients.
18331608
2008
rs121918462
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome
T
0.740
CausalMutation
CLINVAR
PTPN11 gene analysis in 74 Brazilian patients with Noonan syndrome or Noonan-like phenotype.
17020470
2006
rs121918462
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome
T
0.740
CausalMutation
CLINVAR
Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease.
16358218
2006
rs121918462
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome
T
0.740
CausalMutation
CLINVAR
Somatic PTPN11 mutations in childhood acute myeloid leukaemia.
15842656
2005
rs121918462
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome
T
0.740
CausalMutation
CLINVAR
Diverse biochemical properties of Shp2 mutants. Implications for disease phenotypes.
15987685
2005
rs121918462
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome
T
0.740
CausalMutation
CLINVAR
Differences in the prevalence of PTPN11 mutations in FAB M5 paediatric acute myeloid leukaemia.
16115145
2005
rs121918462
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome
T
0.740
CausalMutation
CLINVAR
Eight of 19 patients with NS /MPD carried the Thr73Ile substitution.
15928039
2005
rs121918462
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome
T
0.740
CausalMutation
CLINVAR
In one patient with NS and mild juvenile myelomonocytic leukemia (JMML) the mutation 218C --> T (Thr73Ile ) was found.
15723289
2005
rs121918462
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome
0.740
GeneticVariation
BEFREE
In one patient with NS and mild juvenile myelomonocytic leukemia (JMML) the mutation 218C --> T (Thr73Ile ) was found.
15723289
2005
rs121918462
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome
0.740
GeneticVariation
BEFREE
A 218C-->T mutation was found in exon 3 in one patient with Noonan syndrome and mild juvenile myelomonocytic leukaemia.
15539800
2004
rs121918462
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome
T
0.740
CausalMutation
CLINVAR
Mutations in PTPN11 implicate the SHP-2 phosphatase in leukemogenesis.
14644997
2004
rs121918462
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome
T
0.740
CausalMutation
CLINVAR
PTPN11 mutations in pediatric patients with acute myeloid leukemia: results from the Children's Cancer Group.
15385933
2004
rs121918462
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome
T
0.740
CausalMutation
CLINVAR
Protein-tyrosine phosphatase, nonreceptor type 11 mutation analysis and clinical assessment in 45 patients with Noonan syndrome.
15240615
2004
rs121918462
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome
T
0.740
CausalMutation
CLINVAR
Mutations in PTPN11 are uncommon in adult myelodysplastic syndromes and acute myeloid leukaemia.
15009076
2004
rs121918462
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome
T
0.740
CausalMutation
CLINVAR
Somatic mutations in PTPN11 in juvenile myelomonocytic leukemia, myelodysplastic syndromes and acute myeloid leukemia.
12717436
2003
rs121918462
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome
T
0.740
CausalMutation
CLINVAR
PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity.
11992261
2002
rs121918462
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome
T
0.740
CausalMutation
CLINVAR
PTPN11 (protein-tyrosine phosphatase, nonreceptor-type 11) mutations in seven Japanese patients with Noonan syndrome.
12161469
2002