rs121918462
|
|
|
0.740 |
GeneticVariation |
BEFREE |
Here, we report a Japanese female infant with NS carrying the PTPN11 T73I mutation with NS/MPD, complete atrio-ventricular septal defect, and rapidly progressive HCM.
|
26286251 |
2015 |
rs121918462
|
|
T |
0.740 |
CausalMutation |
CLINVAR |
Noonan and LEOPARD syndrome Shp2 variants induce heart displacement defects in zebrafish.
|
24718990 |
2014 |
rs121918462
|
|
T |
0.740 |
CausalMutation |
CLINVAR |
Juvenile myelomonocytic leukaemia and Noonan syndrome.
|
25097206 |
2014 |
rs121918462
|
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
T |
0.740 |
CausalMutation |
CLINVAR |
Analysis of the PTPN11 gene in idiopathic short stature children and Noonan syndrome patients.
|
18331608 |
2008 |
rs121918462
|
|
T |
0.740 |
CausalMutation |
CLINVAR |
PTPN11 gene analysis in 74 Brazilian patients with Noonan syndrome or Noonan-like phenotype.
|
17020470 |
2006 |
rs121918462
|
|
T |
0.740 |
CausalMutation |
CLINVAR |
Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease.
|
16358218 |
2006 |
rs121918462
|
|
T |
0.740 |
CausalMutation |
CLINVAR |
Somatic PTPN11 mutations in childhood acute myeloid leukaemia.
|
15842656 |
2005 |
rs121918462
|
|
T |
0.740 |
CausalMutation |
CLINVAR |
Diverse biochemical properties of Shp2 mutants. Implications for disease phenotypes.
|
15987685 |
2005 |
rs121918462
|
|
T |
0.740 |
CausalMutation |
CLINVAR |
Differences in the prevalence of PTPN11 mutations in FAB M5 paediatric acute myeloid leukaemia.
|
16115145 |
2005 |
rs121918462
|
|
T |
0.740 |
CausalMutation |
CLINVAR |
Eight of 19 patients with NS/MPD carried the Thr73Ile substitution.
|
15928039 |
2005 |
rs121918462
|
|
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
|
|
|
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
|
|
|
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
|
|
T |
0.740 |
CausalMutation |
CLINVAR |
Mutations in PTPN11 implicate the SHP-2 phosphatase in leukemogenesis.
|
14644997 |
2004 |
rs121918462
|
|
T |
0.740 |
CausalMutation |
CLINVAR |
PTPN11 mutations in pediatric patients with acute myeloid leukemia: results from the Children's Cancer Group.
|
15385933 |
2004 |
rs121918462
|
|
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
|
|
T |
0.740 |
CausalMutation |
CLINVAR |
Mutations in PTPN11 are uncommon in adult myelodysplastic syndromes and acute myeloid leukaemia.
|
15009076 |
2004 |
rs121918462
|
|
T |
0.740 |
CausalMutation |
CLINVAR |
Somatic mutations in PTPN11 in juvenile myelomonocytic leukemia, myelodysplastic syndromes and acute myeloid leukemia.
|
12717436 |
2003 |
rs121918462
|
|
T |
0.740 |
CausalMutation |
CLINVAR |
PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity.
|
11992261 |
2002 |
rs121918462
|
|
T |
0.740 |
CausalMutation |
CLINVAR |
PTPN11 (protein-tyrosine phosphatase, nonreceptor-type 11) mutations in seven Japanese patients with Noonan syndrome.
|
12161469 |
2002 |