×
Entrez Id: 3265
Gene Symbol: HRAS
HRAS
Costello syndrome (disorder)
1.000
CausalMutation
CLINVAR
HRAS mutation analysis has been undertaken in 74 predominantly British patients with a possible diagnosis of CS .18039947 2008
×
Entrez Id: 3265
Gene Symbol: HRAS
HRAS
Costello syndrome (disorder)
1.000
CausalMutation
CLINVAR
Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome.
18042262 2008
×
Entrez Id: 3265
Gene Symbol: HRAS
HRAS
Costello syndrome (disorder)
1.000
CausalMutation
CLINVAR
This led us to review the medical histories on a cohort of proven HRAS mutation positive Costello syndrome patients, and we found a statistically significantly (P < 0.001) increased frequency of pyloric stenosis in Costello syndrome (5/58) compared to the general population frequency of 2-3/1,000.
18247425 2008
×
Entrez Id: 3265
Gene Symbol: HRAS
HRAS
Costello syndrome (disorder)
1.000
GeneticVariation
CLINVAR
This led us to review the medical histories on a cohort of proven HRAS mutation positive Costello syndrome patients, and we found a statistically significantly (P < 0.001) increased frequency of pyloric stenosis in Costello syndrome (5/58) compared to the general population frequency of 2-3/1,000.
18247425 2008
×
Entrez Id: 3265
Gene Symbol: HRAS
HRAS
Costello syndrome (disorder)
1.000
CausalMutation
CLINVAR
Prenatal diagnosis of Costello syndrome using 3D ultrasonography amniocentesis confirmation of the rare HRAS mutation G12D.
18642361 2009
×
Entrez Id: 3265
Gene Symbol: HRAS
HRAS
Costello syndrome (disorder)
1.000
CausalMutation
CLINVAR
Partially correlated thin annular sources: the scalar case.
18978862 2008
×
Entrez Id: 3265
Gene Symbol: HRAS
HRAS
Costello syndrome (disorder)
1.000
CausalMutation
CLINVAR
Male-to-male transmission of Costello syndrome: G12S HRAS germline mutation inherited from a father with somatic mosaicism.
19206176 2009
×
Entrez Id: 3265
Gene Symbol: HRAS
HRAS
Costello syndrome (disorder)
1.000
CausalMutation
CLINVAR
Costello syndrome H-Ras alleles regulate cortical development.
19371735 2009
×
Entrez Id: 3265
Gene Symbol: HRAS
HRAS
Costello syndrome (disorder)
1.000
CausalMutation
CLINVAR
Prenatal features of Costello syndrome: ultrasonographic findings and atrial tachycardia.
19382114 2009
×
Entrez Id: 3265
Gene Symbol: HRAS
HRAS
Costello syndrome (disorder)
1.000
CausalMutation
CLINVAR
Recurring G12S mutation of HRAS in a Chinese child with Costello syndrome with high alkaline phosphatase level.
19669404 2009
×
Entrez Id: 3265
Gene Symbol: HRAS
HRAS
Costello syndrome (disorder)
1.000
CausalMutation
CLINVAR
Prenatal detection of Noonan syndrome by mutation analysis of the PTPN11 and the KRAS genes.
20112233 2010
×
Entrez Id: 3265
Gene Symbol: HRAS
HRAS
Costello syndrome (disorder)
1.000
CausalMutation
CLINVAR
Excess of neuromuscular spindles in a fetus with Costello syndrome: a clinicopathological report.
20658932 2011
×
Entrez Id: 3265
Gene Symbol: HRAS
HRAS
Costello syndrome (disorder)
1.000
CausalMutation
CLINVAR
Enhanced human brain associative plasticity in Costello syndrome.
20660566 2010
×
Entrez Id: 3265
Gene Symbol: HRAS
HRAS
Costello syndrome (disorder)
1.000
CausalMutation
CLINVAR
Germline KRAS mutations cause aberrant biochemical and physical properties leading to developmental disorders.
20949621 2011
×
Entrez Id: 3265
Gene Symbol: HRAS
HRAS
Costello syndrome (disorder)
1.000
CausalMutation
CLINVAR
Costello syndrome with severe cutis laxa and mosaic HRAS G12S mutation.
20979192 2010
×
Entrez Id: 3265
Gene Symbol: HRAS
HRAS
Costello syndrome (disorder)
1.000
CausalMutation
CLINVAR
Clinical, pathological, and molecular analyses of cardiovascular abnormalities in Costello syndrome: a Ras/MAPK pathway syndrome.
21344638 2011
×
Entrez Id: 3265
Gene Symbol: HRAS
HRAS
Costello syndrome (disorder)
1.000
CausalMutation
CLINVAR
Phenotypic analysis of individuals with Costello syndrome due to HRAS p.G13C.
21438134 2011
×
Entrez Id: 3265
Gene Symbol: HRAS
HRAS
Costello syndrome (disorder)
1.000
GeneticVariation
CLINVAR
Functional specificity of ras isoforms: so similar but so different.
21779495 2011
×
Entrez Id: 3265
Gene Symbol: HRAS
HRAS
Costello syndrome (disorder)
1.000
CausalMutation
CLINVAR
Molecular confirmation of HRAS p.G12S in siblings with Costello syndrome.
21834037 2011
×
Entrez Id: 3265
Gene Symbol: HRAS
HRAS
Costello syndrome (disorder)
1.000
GeneticVariation
CLINVAR
Several studies have shown that CS -associated HRAS mutations are clustered in codons 12 and 13, and mutations in other codons have also been identified.
21850009 2011
×
Entrez Id: 3265
Gene Symbol: HRAS
HRAS
Costello syndrome (disorder)
1.000
CausalMutation
CLINVAR
Several studies have shown that CS -associated HRAS mutations are clustered in codons 12 and 13, and mutations in other codons have also been identified.
21850009 2011
×
Entrez Id: 3265
Gene Symbol: HRAS
HRAS
Costello syndrome (disorder)
1.000
CausalMutation
CLINVAR
C4ST-1/CHST11-controlled chondroitin sulfation interferes with oncogenic HRAS signaling in Costello syndrome.
22317973 2012
×
Entrez Id: 3265
Gene Symbol: HRAS
HRAS
Costello syndrome (disorder)
1.000
CausalMutation
CLINVAR
Transmission of the rare HRAS mutation (c. 173C > T; p.T58I) further illustrates its attenuated phenotype.
22488832 2012
×
Entrez Id: 3265
Gene Symbol: HRAS
HRAS
Costello syndrome (disorder)
1.000
CausalMutation
CLINVAR
Other less common lesions in HRAS can induce a milder phenotype on the one hand and a more severe phenotype on the other broadening the spectrum of clinical manifestations in CS -affected individuals.
22926243 2012
×
Entrez Id: 3265
Gene Symbol: HRAS
HRAS
Costello syndrome (disorder)
1.000
CausalMutation
CLINVAR
A structural systems biology approach for quantifying the systemic consequences of missense mutations in proteins.
23093928 2012