|
Noonan Syndrome
|
|
0.720 |
CausalMutation
|
CLINVAR |
We herein report a large family demonstrating NS caused by one of the common PTPN11 mutations, c.188 A > G (Y63C).
|
16498234 |
2006 |
|
Noonan Syndrome
|
|
0.720 |
CausalMutation
|
CLINVAR |
The mutational spectrum of PTPN11 in juvenile myelomonocytic leukemia and Noonan syndrome/myeloproliferative disease.
|
15928039 |
2005 |
|
Noonan Syndrome
|
|
0.720 |
CausalMutation
|
CLINVAR |
Mutations in PTPN11 implicate the SHP-2 phosphatase in leukemogenesis.
|
14644997 |
2004 |
|
Noonan Syndrome
|
|
0.720 |
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 |
|
Noonan Syndrome
|
|
0.720 |
CausalMutation
|
CLINVAR |
PTPN11 mutations in Noonan syndrome type I: detection of recurrent mutations in exons 3 and 13.
|
12325025 |
2002 |
|
Noonan Syndrome
|
|
0.720 |
CausalMutation
|
CLINVAR |
PTPN11 (protein-tyrosine phosphatase, nonreceptor-type 11) mutations in seven Japanese patients with Noonan syndrome.
|
12161469 |
2002 |
|
Noonan Syndrome
|
|
0.720 |
CausalMutation
|
CLINVAR |
PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity.
|
11992261 |
2002 |
|
Noonan Syndrome
|
|
0.720 |
CausalMutation
|
CLINVAR |
Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome.
|
11704759 |
2001 |
|
Congenital stenosis of pulmonary valve
|
|
0.700 |
CausalMutation
|
CLINVAR |
Counteracting effects operating on Src homology 2 domain-containing protein-tyrosine phosphatase 2 (SHP2) function drive selection of the recurrent Y62D and Y63C substitutions in Noonan syndrome.
|
22711529 |
2012 |
|
Congenital insufficiency of pulmonary valve
|
|
0.700 |
CausalMutation
|
CLINVAR |
Counteracting effects operating on Src homology 2 domain-containing protein-tyrosine phosphatase 2 (SHP2) function drive selection of the recurrent Y62D and Y63C substitutions in Noonan syndrome.
|
22711529 |
2012 |
|
Pulmonary Stenosis
|
|
0.700 |
CausalMutation
|
CLINVAR |
Counteracting effects operating on Src homology 2 domain-containing protein-tyrosine phosphatase 2 (SHP2) function drive selection of the recurrent Y62D and Y63C substitutions in Noonan syndrome.
|
22711529 |
2012 |
|
Narrow forehead
|
|
0.700 |
CausalMutation
|
CLINVAR |
Counteracting effects operating on Src homology 2 domain-containing protein-tyrosine phosphatase 2 (SHP2) function drive selection of the recurrent Y62D and Y63C substitutions in Noonan syndrome.
|
22711529 |
2012 |
|
Cryptorchidism
|
|
0.700 |
CausalMutation
|
CLINVAR |
Counteracting effects operating on Src homology 2 domain-containing protein-tyrosine phosphatase 2 (SHP2) function drive selection of the recurrent Y62D and Y63C substitutions in Noonan syndrome.
|
22711529 |
2012 |
|
NOONAN SYNDROME 3
|
|
0.700 |
CausalMutation
|
CLINVAR |
A PTPN11 gene mutation (Y63C) causing Noonan syndrome is not associated with short stature in general population.
|
16498234 |
2006 |
|
NOONAN SYNDROME 3
|
|
0.700 |
CausalMutation
|
CLINVAR |
Correlation between PTPN11 gene mutations and congenital heart defects in Noonan and LEOPARD syndromes.
|
12960218 |
2003 |
|
Pulmonary Stenosis
|
|
0.700 |
CausalMutation
|
CLINVAR |
PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity.
|
11992261 |
2002 |
|
Cryptorchidism
|
|
0.700 |
CausalMutation
|
CLINVAR |
PTPN11 (protein-tyrosine phosphatase, nonreceptor-type 11) mutations in seven Japanese patients with Noonan syndrome.
|
12161469 |
2002 |
|
Congenital stenosis of pulmonary valve
|
|
0.700 |
CausalMutation
|
CLINVAR |
PTPN11 (protein-tyrosine phosphatase, nonreceptor-type 11) mutations in seven Japanese patients with Noonan syndrome.
|
12161469 |
2002 |
|
Congenital insufficiency of pulmonary valve
|
|
0.700 |
CausalMutation
|
CLINVAR |
PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity.
|
11992261 |
2002 |
|
Narrow forehead
|
|
0.700 |
CausalMutation
|
CLINVAR |
PTPN11 (protein-tyrosine phosphatase, nonreceptor-type 11) mutations in seven Japanese patients with Noonan syndrome.
|
12161469 |
2002 |
|
Congenital stenosis of pulmonary valve
|
|
0.700 |
CausalMutation
|
CLINVAR |
PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity.
|
11992261 |
2002 |
|
Pulmonary Stenosis
|
|
0.700 |
CausalMutation
|
CLINVAR |
PTPN11 (protein-tyrosine phosphatase, nonreceptor-type 11) mutations in seven Japanese patients with Noonan syndrome.
|
12161469 |
2002 |
|
NOONAN SYNDROME 3
|
|
0.700 |
CausalMutation
|
CLINVAR |
PTPN11 mutations in Noonan syndrome type I: detection of recurrent mutations in exons 3 and 13.
|
12325025 |
2002 |
|
Cryptorchidism
|
|
0.700 |
CausalMutation
|
CLINVAR |
PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity.
|
11992261 |
2002 |
|
Narrow forehead
|
|
0.700 |
CausalMutation
|
CLINVAR |
PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity.
|
11992261 |
2002 |