|
rs104894228
|
|
|
0.830 |
GeneticVariation |
BEFREE |
Retinal dystrophy in two boys with Costello syndrome due to the HRAS p.Gly13Cys mutation.
|
28337834 |
2017 |
|
rs104894228
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC).
|
25173338 |
2014 |
|
rs104894228
|
|
A |
0.830 |
CausalMutation |
CLINVAR |
A structural systems biology approach for quantifying the systemic consequences of missense mutations in proteins.
|
23093928 |
2012 |
|
rs104894228
|
|
A |
0.830 |
CausalMutation |
CLINVAR |
HRAS mutants identified in Costello syndrome patients can induce cellular senescence: possible implications for the pathogenesis of Costello syndrome.
|
21850009 |
2011 |
|
rs104894228
|
|
A |
0.830 |
CausalMutation |
CLINVAR |
To test the hypothesis that subtle genotype-phenotype differences exist, we report the first cohort comparison between 12 Costello syndrome individuals with p.G13C and individuals with p.G12S.
|
21438134 |
2011 |
|
rs104894228
|
|
|
0.830 |
GeneticVariation |
BEFREE |
Phenotypic analysis of individuals with Costello syndrome due to HRAS p.G13C.
|
21438134 |
2011 |
|
rs104894228
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
Duplication of Glu37 in the switch I region of HRAS impairs effector/GAP binding and underlies Costello syndrome by promoting enhanced growth factor-dependent MAPK and AKT activation.
|
19995790 |
2010 |
|
rs104894228
|
|
|
0.830 |
GeneticVariation |
BEFREE |
We report on a premature male with Costello syndrome due to a rare G13C HRAS mutation and describe his clinical features and evolution during the first year of life.
|
19213030 |
2009 |
|
rs104894228
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
Severe neonatal manifestations of Costello syndrome.
|
18039947 |
2008 |
|
rs104894228
|
|
A |
0.830 |
CausalMutation |
CLINVAR |
Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome.
|
18042262 |
2008 |
|
rs104894228
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
Costello syndrome associated with novel germline HRAS mutations: an attenuated phenotype?
|
18247425 |
2008 |
|
rs104894228
|
|
A |
0.830 |
CausalMutation |
CLINVAR |
An unexpected new role of mutant Ras: perturbation of human embryonic development.
|
17211612 |
2007 |
|
rs104894228
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
Diversity, parental germline origin, and phenotypic spectrum of de novo HRAS missense changes in Costello syndrome.
|
17054105 |
2007 |
|
rs104894228
|
|
A |
0.830 |
CausalMutation |
CLINVAR |
HRAS mutations in Costello syndrome: detection of constitutional activating mutations in codon 12 and 13 and loss of wild-type allele in malignancy.
|
16372351 |
2006 |
|
rs104894228
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases.
|
16443854 |
2006 |
|
rs104894228
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
HRAS mutation analysis in Costello syndrome: genotype and phenotype correlation.
|
16329078 |
2006 |
|
rs104894228
|
|
A |
0.830 |
CausalMutation |
CLINVAR |
HRAS mutation analysis in Costello syndrome: genotype and phenotype correlation.
|
16329078 |
2006 |
|
rs104894228
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
Germline mutations in HRAS proto-oncogene cause Costello syndrome.
|
16170316 |
2005 |