|
Noonan Syndrome
|
|
0.710 |
GeneticVariation
|
BEFREE |
These mutations have been reported previously, and when they were germinal variants, patients presented classic NS, NS with other malignancies and recently, p.Gly503Arg has been also observed in a patient with severe NS and hydrops fetalis, as our cases.
|
29703613 |
2019 |
|
Noonan Syndrome
|
|
0.710 |
CausalMutation
|
CLINVAR |
Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains.
|
28628100 |
2017 |
|
Noonan Syndrome
|
|
0.710 |
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 |
|
Noonan Syndrome
|
|
0.710 |
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 |
|
Noonan Syndrome
|
|
0.710 |
CausalMutation
|
CLINVAR |
We report the case of a 18 month-old boy, evaluated in a multidisciplinary way, with clinic and molecular diagnosis of Noonan syndrome, with the missense mutation in PTPN11 gene, G503R (c.1507 G>A).
|
23513489 |
2012 |
|
Noonan Syndrome
|
|
0.710 |
CausalMutation
|
CLINVAR |
Clinical and molecular characterization of 40 patients with Noonan syndrome.
|
18678287 |
2009 |
|
Noonan Syndrome
|
|
0.710 |
CausalMutation
|
CLINVAR |
We describe the previously unreported condition of Hodgkin's lymphoma in a patient with Noonan syndrome caused by germ-line mutations (1507G > C, Gly503Arg) in exon 13 of the PTPN11 gene.
|
18758896 |
2008 |
|
Noonan Syndrome
|
|
0.710 |
CausalMutation
|
CLINVAR |
The RAS/MAPK syndromes: novel roles of the RAS pathway in human genetic disorders.
|
18470943 |
2008 |
|
Noonan Syndrome
|
|
0.710 |
CausalMutation
|
CLINVAR |
Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease.
|
16358218 |
2006 |
|
Noonan Syndrome
|
|
0.710 |
CausalMutation
|
CLINVAR |
Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease.
|
16358218 |
2006 |
|
Noonan Syndrome
|
|
0.710 |
CausalMutation
|
CLINVAR |
The mutational spectrum of PTPN11 in juvenile myelomonocytic leukemia and Noonan syndrome/myeloproliferative disease.
|
15928039 |
2005 |
|
Noonan Syndrome
|
|
0.710 |
CausalMutation
|
CLINVAR |
Genotype-phenotype correlations in Noonan syndrome.
|
15001945 |
2004 |
|
Noonan Syndrome
|
|
0.710 |
CausalMutation
|
CLINVAR |
Somatic mutations in PTPN11 in juvenile myelomonocytic leukemia, myelodysplastic syndromes and acute myeloid leukemia.
|
12717436 |
2003 |
|
Noonan Syndrome
|
|
0.710 |
CausalMutation
|
CLINVAR |
Somatic mutations in PTPN11 in juvenile myelomonocytic leukemia, myelodysplastic syndromes and acute myeloid leukemia.
|
12717436 |
2003 |
|
Noonan Syndrome
|
|
0.710 |
CausalMutation
|
CLINVAR |
Correlation between PTPN11 gene mutations and congenital heart defects in Noonan and LEOPARD syndromes.
|
12960218 |
2003 |
|
Noonan Syndrome
|
|
0.710 |
CausalMutation
|
CLINVAR |
Correlation between PTPN11 gene mutations and congenital heart defects in Noonan and LEOPARD syndromes.
|
12960218 |
2003 |