rs121918456
|
|
Noonan Syndrome
|
G |
0.710 |
CausalMutation
|
CLINVAR |
Rapamycin reverses hypertrophic cardiomyopathy in a mouse model of LEOPARD syndrome-associated PTPN11 mutation.
|
21339643 |
2011 |
rs121918456
|
|
Noonan Syndrome
|
G |
0.710 |
CausalMutation
|
CLINVAR |
LEOPARD Syndrome with PTPN11 Gene Mutation Showing Six Cardinal Symptoms of LEOPARD.
|
21747628 |
2011 |
rs121918456
|
|
Noonan Syndrome
|
G |
0.710 |
CausalMutation
|
CLINVAR |
Functional effects of PTPN11 (SHP2) mutations causing LEOPARD syndrome on epidermal growth factor-induced phosphoinositide 3-kinase/AKT/glycogen synthase kinase 3beta signaling.
|
20308328 |
2010 |
rs121918456
|
|
Noonan Syndrome
|
G |
0.710 |
CausalMutation
|
CLINVAR |
LEOPARD syndrome with recurrent PTPN11 mutation Y279C and different cutaneous manifestations: two case reports and a review of the literature.
|
19768645 |
2010 |
rs121918456
|
|
Noonan Syndrome
|
G |
0.710 |
CausalMutation
|
CLINVAR |
Phosphatase-defective LEOPARD syndrome mutations in PTPN11 gene have gain-of-function effects during Drosophila development.
|
18849586 |
2009 |
rs121918456
|
|
Noonan Syndrome
|
G |
0.710 |
CausalMutation
|
CLINVAR |
Phenotype-genotype correlation in a patient with co-occurrence of Marfan and LEOPARD syndromes.
|
19725129 |
2009 |
rs121918456
|
|
Noonan Syndrome
|
G |
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 |
rs121918456
|
|
Noonan Syndrome
|
G |
0.710 |
CausalMutation
|
CLINVAR |
Acute myelomonocytic leukemia in a boy with LEOPARD syndrome (PTPN11 gene mutation positive).
|
16679933 |
2006 |
rs121918456
|
|
Noonan Syndrome
|
G |
0.710 |
CausalMutation
|
CLINVAR |
Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease.
|
16358218 |
2006 |
rs121918456
|
|
Noonan Syndrome
|
G |
0.710 |
CausalMutation
|
CLINVAR |
PTPN11 mutations in patients with LEOPARD syndrome: a French multicentric experience.
|
15520399 |
2004 |
rs121918456
|
|
Noonan Syndrome
|
G |
0.710 |
CausalMutation
|
CLINVAR |
Clinical and molecular analysis of 30 patients with multiple lentigines LEOPARD syndrome.
|
15121796 |
2004 |
rs121918456
|
|
Noonan Syndrome
|
G |
0.710 |
CausalMutation
|
CLINVAR |
[Molecular genetic mutation analysis of the PTPN11 gene in the multiple lentigines (LEOPARD) syndrome].
|
14634749 |
2003 |
rs121918456
|
|
Noonan Syndrome
|
G |
0.710 |
CausalMutation
|
CLINVAR |
Grouping of multiple-lentigines/LEOPARD and Noonan syndromes on the PTPN11 gene.
|
12058348 |
2002 |
rs121918456
|
|
Noonan Syndrome
|
G |
0.710 |
CausalMutation
|
CLINVAR |
PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity.
|
11992261 |
2002 |
rs121918456
|
|
Noonan Syndrome
|
G |
0.710 |
CausalMutation
|
CLINVAR |
We hypothesise that some PTPN11 mutations are associated with the typical Noonan syndrome phenotype and that other mutations, such as the Y279C mutation reported here, are associated with both the Noonan syndrome phenotype and with skin pigmentation anomalies, such as multiple lentigines or café au lait spots.
|
12161596 |
2002 |