Leopard Syndrome 1
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Craniosynostosis in patients with RASopathies: Accumulating clinical evidence for expanding the phenotype.
|
28650561 |
2017 |
Leopard Syndrome 1
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome.
|
11704759 |
2001 |
Leopard Syndrome 1
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity.
|
11992261 |
2002 |
Leopard Syndrome 1
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Mutations in PTPN11 implicate the SHP-2 phosphatase in leukemogenesis.
|
14644997 |
2004 |
Leopard Syndrome 1
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Clinical and molecular characterization of 40 patients with Noonan syndrome.
|
18678287 |
2009 |
Leopard Syndrome 1
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Grouping of multiple-lentigines/LEOPARD and Noonan syndromes on the PTPN11 gene.
|
12058348 |
2002 |
Leopard Syndrome 1
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Two novel and one recurrent PTPN11 mutations in LEOPARD syndrome.
|
15389709 |
2004 |
Leopard Syndrome 1
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Two novel and one recurrent PTPN11 mutations in LEOPARD syndrome.
|
15389709 |
2004 |
Leopard Syndrome 1
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Grouping of multiple-lentigines/LEOPARD and Noonan syndromes on the PTPN11 gene.
|
12058348 |
2002 |
Leopard Syndrome 1
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
"PTPN11 gene mutations: linking the Gln510Glu mutation to the ""LEOPARD syndrome phenotype""."
|
16733669 |
2006 |
Leopard Syndrome 1
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Genetic heterogeneity in LEOPARD syndrome: two families with no mutations in PTPN11.
|
15690106 |
2005 |
Leopard Syndrome 1
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
A PTPN11 allele encoding a catalytically impaired SHP2 protein in a patient with a Noonan syndrome phenotype.
|
24891296 |
2014 |
Leopard Syndrome 1
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
PTPN11 mutations in patients with LEOPARD syndrome: a French multicentric experience.
|
15520399 |
2004 |
Leopard Syndrome 1
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Determination of the catalytic activity of LEOPARD syndrome-associated SHP2 mutants toward parafibromin, a bona fide SHP2 substrate involved in Wnt signaling.
|
26742426 |
2016 |
Leopard Syndrome 1
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Clinical and molecular analysis of 30 patients with multiple lentigines LEOPARD syndrome.
|
15121796 |
2004 |
Leopard Syndrome 1
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Acute myelomonocytic leukemia in a boy with LEOPARD syndrome (PTPN11 gene mutation positive).
|
16679933 |
2006 |
Leopard Syndrome 1
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
A novel PTPN11 mutation in LEOPARD syndrome.
|
14961557 |
2003 |
Leopard Syndrome 1
|
0.700 |
Biomarker
|
disease |
CTD_human |
Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy.
|
17603483 |
2007 |
Leopard Syndrome 1
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Co-occurring PTPN11 and SOS1 gene mutations in Noonan syndrome: does this predict a more severe phenotype?
|
21340158 |
2010 |
Leopard Syndrome 1
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Negative regulation of Stat3 by activating PTPN11 mutants contributes to the pathogenesis of Noonan syndrome and juvenile myelomonocytic leukemia.
|
19509418 |
2009 |
Leopard Syndrome 1
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Craniosynostosis in patients with RASopathies: Accumulating clinical evidence for expanding the phenotype.
|
28650561 |
2017 |
Leopard Syndrome 1
|
0.700 |
CausalMutation
|
disease |
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 |
Leopard Syndrome 1
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Structure-energy-based predictions and network modelling of RASopathy and cancer missense mutations.
|
24803665 |
2014 |
Leopard Syndrome 1
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Ocular Manifestations of Noonan Syndrome: A Prospective Clinical and Genetic Study of 25 Patients.
|
27521173 |
2016 |
Leopard Syndrome 1
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Lethal presentation of neurofibromatosis and Noonan syndrome.
|
21567923 |
2011 |