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 |
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 |
Thyroid Neoplasm
|
|
0.710 |
CausalMutation
|
CLINVAR |
Phase II trial of sorafenib in metastatic thyroid cancer.
|
19255327 |
2009 |
Thyroid Neoplasm
|
|
0.710 |
CausalMutation
|
CLINVAR |
Phase II trial of sorafenib in metastatic thyroid cancer.
|
19255327 |
2009 |
Thyroid Neoplasm
|
|
0.710 |
CausalMutation
|
CLINVAR |
Beneficial effects of sorafenib on tumor progression, but not on radioiodine uptake, in patients with differentiated thyroid carcinoma.
|
19773371 |
2009 |
Thyroid Neoplasm
|
|
0.710 |
CausalMutation
|
CLINVAR |
Beneficial effects of sorafenib on tumor progression, but not on radioiodine uptake, in patients with differentiated thyroid carcinoma.
|
19773371 |
2009 |
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 |
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 |
Noonan Syndrome
|
|
0.700 |
CausalMutation
|
CLINVAR |
Phenotypic analysis of individuals with Costello syndrome due to HRAS p.G13C.
|
21438134 |
2011 |
Developmental delay (disorder)
|
|
0.010 |
GeneticVariation
|
BEFREE |
The individuals with p.G13C had many typical findings including polyhydramnios, failure-to-thrive, HCM, macrocephaly with posterior fossa crowding, and developmental delay.
|
21438134 |
2011 |
Dwarfism
|
|
0.010 |
GeneticVariation
|
BEFREE |
Fewer individuals with p.G13C had short stature (height below -2 SD) without use of growth hormone (P < 0.001).
|
21438134 |
2011 |
Global developmental delay
|
|
0.010 |
GeneticVariation
|
BEFREE |
The individuals with p.G13C had many typical findings including polyhydramnios, failure-to-thrive, HCM, macrocephaly with posterior fossa crowding, and developmental delay.
|
21438134 |
2011 |
Costello syndrome (disorder)
|
|
0.830 |
CausalMutation
|
CLINVAR |
A structural systems biology approach for quantifying the systemic consequences of missense mutations in proteins.
|
23093928 |
2012 |
Nevus Sebaceus of Jadassohn
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Postzygotic HRAS and KRAS mutations cause nevus sebaceous and Schimmelpenning syndrome.
|
22683711 |
2012 |
Organoid Nevus Phakomatosis
|
|
0.710 |
GeneticVariation
|
BEFREE |
Mosaicism for HRAS c.37G>C and KRAS c.35G>A mutations was found in two individuals with Schimmelpenning syndrome.
|
22683711 |
2012 |
Neoplasm Metastasis
|
|
0.010 |
GeneticVariation
|
BEFREE |
The HRAS c.37G>C mutation was also found in 8 of 8 associated secondary tumors.
|
22683711 |
2012 |
Thyroid Neoplasm
|
|
0.710 |
CausalMutation
|
CLINVAR |
Selumetinib-enhanced radioiodine uptake in advanced thyroid cancer.
|
23406027 |
2013 |
Thyroid Neoplasm
|
|
0.710 |
CausalMutation
|
CLINVAR |
Selumetinib-enhanced radioiodine uptake in advanced thyroid cancer.
|
23406027 |
2013 |
Nevus sebaceous
|
|
0.700 |
CausalMutation
|
CLINVAR |
Whole-exome sequencing reveals somatic mutations in HRAS and KRAS, which cause nevus sebaceus.
|
23096712 |
2013 |
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 |
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 |