|
Costello syndrome (disorder)
|
|
0.830 |
GeneticVariation
|
BEFREE |
Retinal dystrophy in two boys with Costello syndrome due to the HRAS p.Gly13Cys mutation.
|
28337834 |
2017 |
|
Costello syndrome (disorder)
|
|
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 |
|
Costello syndrome (disorder)
|
|
0.830 |
CausalMutation
|
CLINVAR |
A structural systems biology approach for quantifying the systemic consequences of missense mutations in proteins.
|
23093928 |
2012 |
|
Costello syndrome (disorder)
|
|
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 |
|
Costello syndrome (disorder)
|
|
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 |
|
Costello syndrome (disorder)
|
|
0.830 |
GeneticVariation
|
BEFREE |
Phenotypic analysis of individuals with Costello syndrome due to HRAS p.G13C.
|
21438134 |
2011 |
|
Costello syndrome (disorder)
|
|
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 |
|
Costello syndrome (disorder)
|
|
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 |
|
Costello syndrome (disorder)
|
|
0.830 |
GeneticVariation
|
UNIPROT |
Severe neonatal manifestations of Costello syndrome.
|
18039947 |
2008 |
|
Costello syndrome (disorder)
|
|
0.830 |
CausalMutation
|
CLINVAR |
Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome.
|
18042262 |
2008 |
|
Costello syndrome (disorder)
|
|
0.830 |
GeneticVariation
|
UNIPROT |
Costello syndrome associated with novel germline HRAS mutations: an attenuated phenotype?
|
18247425 |
2008 |
|
Costello syndrome (disorder)
|
|
0.830 |
CausalMutation
|
CLINVAR |
An unexpected new role of mutant Ras: perturbation of human embryonic development.
|
17211612 |
2007 |
|
Costello syndrome (disorder)
|
|
0.830 |
GeneticVariation
|
UNIPROT |
Diversity, parental germline origin, and phenotypic spectrum of de novo HRAS missense changes in Costello syndrome.
|
17054105 |
2007 |
|
Costello syndrome (disorder)
|
|
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 |
|
Costello syndrome (disorder)
|
|
0.830 |
GeneticVariation
|
UNIPROT |
Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases.
|
16443854 |
2006 |
|
Costello syndrome (disorder)
|
|
0.830 |
GeneticVariation
|
UNIPROT |
HRAS mutation analysis in Costello syndrome: genotype and phenotype correlation.
|
16329078 |
2006 |
|
Costello syndrome (disorder)
|
|
0.830 |
CausalMutation
|
CLINVAR |
HRAS mutation analysis in Costello syndrome: genotype and phenotype correlation.
|
16329078 |
2006 |
|
Costello syndrome (disorder)
|
|
0.830 |
GeneticVariation
|
UNIPROT |
Germline mutations in HRAS proto-oncogene cause Costello syndrome.
|
16170316 |
2005 |
|
Nevus Sebaceus of Jadassohn
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Postzygotic HRAS and KRAS mutations cause nevus sebaceous and Schimmelpenning syndrome.
|
22683711 |
2012 |
|
Nevus Sebaceus of Jadassohn
|
|
0.800 |
CausalMutation
|
CLINVAR |
|
|
|
|
Nevus Sebaceus of Jadassohn
|
|
0.800 |
CausalMutation
|
CLINVAR |
|
|
|
|
Thyroid Neoplasm
|
|
0.710 |
GeneticVariation
|
BEFREE |
Here, we show that depletion of RAF-1, a RAF family member with a poorly defined role in TC, decreases proliferation and increases apoptosis in TPC-1 cells and, less significantly, in cells harboring a BRAF(V600E) or HRAS(G13R) mutations, but without affecting ERK activation.
|
26265449 |
2015 |
|
Neoplasms
|
|
0.710 |
GeneticVariation
|
BEFREE |
Using next-generation sequencing techniques, we were able to identify the same HRAS G13R mutation within both components of the tumor, and to show the absence of additional mutated modifier genes in a panel of 300 cancer-related genes.
|
24628623 |
2014 |
|
Thyroid Neoplasm
|
|
0.710 |
CausalMutation
|
CLINVAR |
Prospective enterprise-level molecular genotyping of a cohort of cancer patients.
|
25157968 |
2014 |
|
Neoplasms
|
|
0.710 |
GeneticVariation
|
CLINVAR |
Prospective enterprise-level molecular genotyping of a cohort of cancer patients.
|
25157968 |
2014 |