×
Entrez Id:
3265
Gene Symbol:
HRAS
HRAS
Costello syndrome (disorder)
1.000
CausalMutation
CLINVAR
ClinGen's RASopathy Expert Panel consensus methods for variant interpretation.
29493581
2018
×
Entrez Id:
3265
Gene Symbol:
HRAS
HRAS
Costello syndrome (disorder)
1.000
GeneticVariation
CLINVAR
ClinGen's RASopathy Expert Panel consensus methods for variant interpretation.
29493581
2018
×
Entrez Id:
3265
Gene Symbol:
HRAS
HRAS
Costello syndrome (disorder)
1.000
CausalMutation
CLINVAR
Novel pathogenic variant in the HRAS gene with lethal outcome and a broad phenotypic spectrum among Polish patients with Costello syndrome.
28027064
2017
×
Entrez Id:
3265
Gene Symbol:
HRAS
HRAS
Costello syndrome (disorder)
1.000
CausalMutation
CLINVAR
Paternal uniparental disomy with segmental loss of heterozygosity of chromosome 11 are hallmark characteristics of syndromic and sporadic embryonal rhabdomyosarcoma.
27589201
2016
×
Entrez Id:
3265
Gene Symbol:
HRAS
HRAS
Costello syndrome (disorder)
1.000
CausalMutation
CLINVAR
The Splicing Efficiency of Activating HRAS Mutations Can Determine Costello Syndrome Phenotype and Frequency in Cancer.
27195699
2016
×
Entrez Id:
3265
Gene Symbol:
HRAS
HRAS
Costello syndrome (disorder)
1.000
GeneticVariation
CLINVAR
Fatal congenital hypertrophic cardiomyopathy and a pancreatic nodule morphologically identical to focal lesion of congenital hyperinsulinism in an infant with costello syndrome: case report and review of the literature.
25668678
2015
×
Entrez Id:
3265
Gene Symbol:
HRAS
HRAS
Costello syndrome (disorder)
1.000
CausalMutation
CLINVAR
HRAS mutations in bladder cancer at an early age and the possible association with the Costello Syndrome.
24169525
2014
×
Entrez Id:
3265
Gene Symbol:
HRAS
HRAS
Costello syndrome (disorder)
1.000
CausalMutation
CLINVAR
Kinetic mechanisms of mutation-dependent Harvey Ras activation and their relevance for the development of Costello syndrome.
24224811
2013
×
Entrez Id:
3265
Gene Symbol:
HRAS
HRAS
Costello syndrome (disorder)
1.000
CausalMutation
CLINVAR
Prenatal diagnostic testing of the Noonan syndrome genes in fetuses with abnormal ultrasound findings.
23321623
2013
×
Entrez Id:
3265
Gene Symbol:
HRAS
HRAS
Costello syndrome (disorder)
1.000
GeneticVariation
CLINVAR
Kinetic mechanisms of mutation-dependent Harvey Ras activation and their relevance for the development of Costello syndrome.
24224811
2013
×
Entrez Id:
3265
Gene Symbol:
HRAS
HRAS
Costello syndrome (disorder)
1.000
CausalMutation
CLINVAR
Craniofacial and dental malformations in Costello syndrome: A detailed evaluation using multi-detector row computed tomography.
23751039
2013
×
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
×
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
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
GeneticVariation
CLINVAR
A structural systems biology approach for quantifying the systemic consequences of missense mutations in proteins.
23093928
2012
×
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
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
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
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
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
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
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
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
Costello syndrome with severe cutis laxa and mosaic HRAS G12S mutation.
20979192
2010