×
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
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
The RAS/MAPK syndromes: novel roles of the RAS pathway in human genetic disorders.
18470943
2008
×
Entrez Id:
673
Gene Symbol:
BRAF
BRAF
Cardio-facio-cutaneous syndrome
1.000
CausalMutation
CLINVAR
Epigenetic-genetic interactions in the APC/WNT, RAS/RAF, and P53 pathways in colorectal carcinoma.
18451217
2008
×
Entrez Id:
673
Gene Symbol:
BRAF
BRAF
Cardio-facio-cutaneous syndrome
1.000
CausalMutation
CLINVAR
p16INK4a expression and absence of activated B-RAF are independent predictors of chemosensitivity in melanoma tumors.
18953432
2008
×
Entrez Id:
673
Gene Symbol:
BRAF
BRAF
Cardio-facio-cutaneous syndrome
1.000
CausalMutation
CLINVAR
Noonan and cardio-facio-cutaneous syndromes: two clinically and genetically overlapping disorders.
18456719
2008
×
Entrez Id:
673
Gene Symbol:
BRAF
BRAF
Cardio-facio-cutaneous syndrome
1.000
GeneticVariation
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
CausalMutation
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
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
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
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
Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype-phenotype relationships and overlap with Costello syndrome.
17704260
2007
×
Entrez Id:
673
Gene Symbol:
BRAF
BRAF
Cardio-facio-cutaneous syndrome
1.000
GeneticVariation
CLINVAR
Molecular and clinical characterization of cardio-facio-cutaneous (CFC) syndrome: overlapping clinical manifestations with Costello syndrome.
17366577
2007
×
Entrez Id:
673
Gene Symbol:
BRAF
BRAF
Cardio-facio-cutaneous syndrome
1.000
GeneticVariation
CLINVAR
Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype-phenotype relationships and overlap with Costello syndrome.
17704260
2007
×
Entrez Id:
673
Gene Symbol:
BRAF
BRAF
Cardio-facio-cutaneous syndrome
1.000
CausalMutation
CLINVAR
Germline gain-of-function mutations in RAF1 cause Noonan syndrome.
17603482
2007
×
Entrez Id:
673
Gene Symbol:
BRAF
BRAF
Cardio-facio-cutaneous syndrome
1.000
CausalMutation
CLINVAR
Targeting the Raf-MEK-ERK mitogen-activated protein kinase cascade for the treatment of cancer.
17496923
2007
×
Entrez Id:
673
Gene Symbol:
BRAF
BRAF
Cardio-facio-cutaneous syndrome
1.000
CausalMutation
CLINVAR
KRAS and BRAF oncogenic mutations in MSS colorectal carcinoma progression.
16953233
2007
×
Entrez Id:
673
Gene Symbol:
BRAF
BRAF
Cardio-facio-cutaneous syndrome
1.000
CausalMutation
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
Molecular and clinical characterization of cardio-facio-cutaneous (CFC) syndrome: overlapping clinical manifestations with Costello syndrome.
17366577
2007
×
Entrez Id:
673
Gene Symbol:
BRAF
BRAF
Cardio-facio-cutaneous syndrome
1.000
CausalMutation
CLINVAR
Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome .
16474404
2006
×
Entrez Id:
673
Gene Symbol:
BRAF
BRAF
Cardio-facio-cutaneous syndrome
1.000
GeneticVariation
CLINVAR
Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome.
16439621
2006
×
Entrez Id:
673
Gene Symbol:
BRAF
BRAF
Cardio-facio-cutaneous syndrome
1.000
GeneticVariation
CLINVAR
Distinguishing Costello versus cardio-facio-cutaneous syndrome: BRAF mutations in patients with a Costello phenotype.
16804887
2006
×
Entrez Id:
673
Gene Symbol:
BRAF
BRAF
Cardio-facio-cutaneous syndrome
1.000
CausalMutation
CLINVAR
Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome.
16439621
2006