×
Entrez Id: 673
Gene Symbol: BRAF
BRAF
Cardio-facio-cutaneous syndrome
1.000
GeneticVariation
CLINVAR
Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum.
19206169 2009
×
Entrez Id: 673
Gene Symbol: BRAF
BRAF
Cardio-facio-cutaneous syndrome
1.000
CausalMutation
CLINVAR
Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome.
18042262 2008
×
Entrez Id: 673
Gene Symbol: BRAF
BRAF
Cardio-facio-cutaneous syndrome
1.000
GeneticVariation
CLINVAR
Epilepsy in RAS/MAPK syndrome: two cases of cardio-facio-cutaneous syndrome with epileptic encephalopathy and a literature review.
21871821 2012
×
Entrez Id: 673
Gene Symbol: BRAF
BRAF
Cardio-facio-cutaneous syndrome
1.000
CausalMutation
CLINVAR
Single-molecule force measurement via optical tweezers reveals different kinetic features of two BRaf mutants responsible for cardio-facial-cutaneous (CFC) syndrome.
24409384 2013
×
Entrez Id: 673
Gene Symbol: BRAF
BRAF
Cardio-facio-cutaneous syndrome
1.000
CausalMutation
CLINVAR
The intermediate-activity (L597V)BRAF mutant acts as an epistatic modifier of oncogenic RAS by enhancing signaling through the RAF/MEK/ERK pathway.
22892241 2012
×
Entrez Id: 673
Gene Symbol: BRAF
BRAF
Cardio-facio-cutaneous syndrome
1.000
CausalMutation
CLINVAR
We report the case of a 4-year-old girl who presented a CFC syndrome , confirmed by the presence of a pathogenic R257Q BRAF gene mutation, together with a muscular CoQ10 deficiency.
17703371 2007
×
Entrez Id: 673
Gene Symbol: BRAF
BRAF
Cardio-facio-cutaneous syndrome
1.000
GeneticVariation
CLINVAR
Neurological complications of cardio-facio-cutaneous syndrome.
18039235 2007
×
Entrez Id: 673
Gene Symbol: BRAF
BRAF
Cardio-facio-cutaneous syndrome
1.000
CausalMutation
CLINVAR
Tegumentary manifestations of Noonan and Noonan-related syndromes.
24037001 2013
×
Entrez Id: 673
Gene Symbol: BRAF
BRAF
Cardio-facio-cutaneous syndrome
1.000
CausalMutation
CLINVAR
A structural systems biology approach for quantifying the systemic consequences of missense mutations in proteins.
23093928 2012
×
Entrez Id: 673
Gene Symbol: BRAF
BRAF
Cardio-facio-cutaneous syndrome
1.000
GeneticVariation
CLINVAR
Novel BRAF mutation in a patient with LEOPARD syndrome and normal intelligence.
19416762 2009
×
Entrez Id: 673
Gene Symbol: BRAF
BRAF
Cardio-facio-cutaneous syndrome
1.000
CausalMutation
CLINVAR
Prevalence and clinical features of Costello syndrome and cardio-facio-cutaneous syndrome in Japan: findings from a nationwide epidemiological survey.
22495831 2012
×
Entrez Id: 673
Gene Symbol: BRAF
BRAF
Cardio-facio-cutaneous syndrome
1.000
GeneticVariation
CLINVAR
Mutation analysis of BRAF, MEK1 and MEK2 in 15 ovarian cancer cell lines: implications for therapy.
18060073 2007
×
Entrez Id: 673
Gene Symbol: BRAF
BRAF
Cardio-facio-cutaneous syndrome
1.000
CausalMutation
CLINVAR
New BRAF knockin mice provide a pathogenetic mechanism of developmental defects and a therapeutic approach in cardio-facio-cutaneous syndrome.
25035421 2014
×
Entrez Id: 673
Gene Symbol: BRAF
BRAF
Cardio-facio-cutaneous syndrome
1.000
GeneticVariation
CLINVAR
Biochemical characterization of novel germline BRAF and MEK mutations in cardio-facio-cutaneous syndrome.
18413255 2008
×
Entrez Id: 673
Gene Symbol: BRAF
BRAF
Cardio-facio-cutaneous syndrome
1.000
CausalMutation
CLINVAR
Diagnosis of Noonan syndrome and related disorders using target next generation sequencing.
24451042 2014
×
Entrez Id: 673
Gene Symbol: BRAF
BRAF
Cardio-facio-cutaneous syndrome
1.000
CausalMutation
CLINVAR
Effects of germline mutations in the Ras/MAPK signaling pathway on adaptive behavior: cardiofaciocutaneous syndrome and Noonan syndrome.
20186801 2010
×
Entrez Id: 673
Gene Symbol: BRAF
BRAF
Cardio-facio-cutaneous syndrome
1.000
CausalMutation
CLINVAR
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
26619011 2016
×
Entrez Id: 673
Gene Symbol: BRAF
BRAF
Cardio-facio-cutaneous syndrome
1.000
CausalMutation
CLINVAR
Spectrum of mutations in Noonan syndrome and their correlation with phenotypes.
21784453 2011
×
Entrez Id: 673
Gene Symbol: BRAF
BRAF
Cardio-facio-cutaneous syndrome
1.000
CausalMutation
CLINVAR
Further delineation of the phenotype resulting from BRAF or MEK1 germline mutations helps differentiate cardio-facio-cutaneous syndrome from Costello syndrome.
17551924 2007
×
Entrez Id: 673
Gene Symbol: BRAF
BRAF
Cardio-facio-cutaneous syndrome
1.000
GeneticVariation
CLINVAR
Further delineation of the phenotype resulting from BRAF or MEK1 germline mutations helps differentiate cardio-facio-cutaneous syndrome from Costello syndrome.
17551924 2007
×
Entrez Id: 673
Gene Symbol: BRAF
BRAF
Cardio-facio-cutaneous syndrome
1.000
CausalMutation
CLINVAR
Multiple giant cell lesions in patients with Noonan syndrome and cardio-facio-cutaneous syndrome.
18854871 2009
×
Entrez Id: 673
Gene Symbol: BRAF
BRAF
Cardio-facio-cutaneous syndrome
1.000
CausalMutation
CLINVAR
Mitochondrial dysfunction and organic aciduria in five patients carrying mutations in the Ras-MAPK pathway.
21063443 2011
×
Entrez Id: 673
Gene Symbol: BRAF
BRAF
Cardio-facio-cutaneous syndrome
1.000
GeneticVariation
CLINVAR
A structural systems biology approach for quantifying the systemic consequences of missense mutations in proteins.
23093928 2012
×
Entrez Id: 673
Gene Symbol: BRAF
BRAF
Cardio-facio-cutaneous syndrome
1.000
CausalMutation
CLINVAR
A cardio-facio-cutaneous syndrome case with tight Achilles tendons.
22876591 2012
×
Entrez Id: 673
Gene Symbol: BRAF
BRAF
Cardio-facio-cutaneous syndrome
1.000
CausalMutation
CLINVAR
LEOPARD syndrome: a variant of Noonan syndrome strongly associated with hypertrophic cardiomyopathy.
24775816 2013