|
rs397507520
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Functional evaluation of circulating hematopoietic progenitors in Noonan syndrome.
|
23756559 |
2013 |
|
rs397507520
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Molecular genetic analysis of lymphoblastic blasts at the time of the ALL diagnosis revealed the germline mutation in a heterozygous state, while in the myelomonocytic blasts occurring with JMML diagnosis, the mutation p.E139D was found in a homozygous state due to a uniparental disomy (UPD).
|
22315187 |
2012 |
|
rs397507520
|
|
|
0.710 |
GeneticVariation |
BEFREE |
We report a female NS patient carrying a PTPN11 germline mutation c.417 G > C (p.E139D), who developed in her second year of life an acute lymphoblastic leukemia (ALL) and after remission, she developed at 4 years of age a juvenile myelomonocytic leukemia (JMML).
|
22315187 |
2012 |
|
rs397507520
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Cancer risk in patients with Noonan syndrome carrying a PTPN11 mutation.
|
21407260 |
2011 |
|
rs397507520
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Clinical and hematologic findings in Noonan syndrome patients with PTPN11 gene mutations.
|
20954246 |
2010 |
|
rs397507520
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Prenatal detection of Noonan syndrome by mutation analysis of the PTPN11 and the KRAS genes.
|
20112233 |
2010 |
|
rs397507520
|
|
C |
0.710 |
CausalMutation |
CLINVAR |
High resolution melting analysis for mutation detection for PTPN11 gene: applications of this method for diagnosis of Noonan syndrome.
|
19737548 |
2009 |
|
rs397507520
|
|
C |
0.710 |
CausalMutation |
CLINVAR |
PTPN11, SOS1, KRAS, and RAF1 gene analysis, and genotype-phenotype correlation in Korean patients with Noonan syndrome.
|
19020799 |
2008 |
|
rs397507520
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
PTPN11, SOS1, KRAS, and RAF1 gene analysis, and genotype-phenotype correlation in Korean patients with Noonan syndrome.
|
19020799 |
2008 |
|
rs397507520
|
|
C |
0.710 |
CausalMutation |
CLINVAR |
Diverse driving forces underlie the invariant occurrence of the T42A, E139D, I282V and T468M SHP2 amino acid substitutions causing Noonan and LEOPARD syndromes.
|
18372317 |
2008 |
|
rs397507520
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Clonal duplication of a germline PTPN11 mutation due to acquired uniparental disomy in acute lymphoblastic leukemia blasts from a patient with Noonan syndrome.
|
17361219 |
2007 |
|
rs397507520
|
|
C |
0.710 |
CausalMutation |
CLINVAR |
Mutational analysis of PTPN11 gene in Taiwanese children with Noonan syndrome.
|
17339163 |
2007 |
|
rs397507520
|
|
C |
0.710 |
CausalMutation |
CLINVAR |
Clonal duplication of a germline PTPN11 mutation due to acquired uniparental disomy in acute lymphoblastic leukemia blasts from a patient with Noonan syndrome.
|
17361219 |
2007 |
|
rs397507520
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Mutational analysis of PTPN11 gene in Taiwanese children with Noonan syndrome.
|
17339163 |
2007 |
|
rs397507520
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
PTPN11 gene analysis in 74 Brazilian patients with Noonan syndrome or Noonan-like phenotype.
|
17020470 |
2006 |
|
rs397507520
|
|
C |
0.710 |
CausalMutation |
CLINVAR |
PTPN11 gene analysis in 74 Brazilian patients with Noonan syndrome or Noonan-like phenotype.
|
17020470 |
2006 |
|
rs397507520
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Genotypic and phenotypic characterization of Noonan syndrome: new data and review of the literature.
|
15723289 |
2005 |
|
rs397507520
|
|
C |
0.710 |
CausalMutation |
CLINVAR |
Mutations in PTPN11 implicate the SHP-2 phosphatase in leukemogenesis.
|
14644997 |
2004 |
|
rs397507520
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Mutations in PTPN11 implicate the SHP-2 phosphatase in leukemogenesis.
|
14644997 |
2004 |
|
rs397507520
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Spectrum of mutations in PTPN11 and genotype-phenotype correlation in 96 patients with Noonan syndrome and five patients with cardio-facio-cutaneous syndrome.
|
12634870 |
2003 |
|
rs397507520
|
|
C |
0.710 |
CausalMutation |
CLINVAR |
PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity.
|
11992261 |
2002 |
|
rs397507520
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity.
|
11992261 |
2002 |