Noonan Syndrome
|
0.770 |
GeneticVariation
|
disease |
CLINVAR |
Mutations of the BRAF gene in cholangiocarcinoma but not in hepatocellular carcinoma.
|
12692057 |
2003 |
Noonan Syndrome
|
0.770 |
CausalMutation
|
disease |
CLINVAR |
Mechanism of activation of the RAF-ERK signaling pathway by oncogenic mutations of B-RAF.
|
15035987 |
2004 |
Noonan Syndrome
|
0.770 |
CausalMutation
|
disease |
CLINVAR |
Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome.
|
16439621 |
2006 |
Noonan Syndrome
|
0.770 |
CausalMutation
|
disease |
CLINVAR |
Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome.
|
16474404 |
2006 |
Noonan Syndrome
|
0.770 |
CausalMutation
|
disease |
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 |
Noonan Syndrome
|
0.770 |
GeneticVariation
|
disease |
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 |
Noonan Syndrome
|
0.770 |
CausalMutation
|
disease |
CLINVAR |
Germline gain-of-function mutations in RAF1 cause Noonan syndrome.
|
17603482 |
2007 |
Noonan Syndrome
|
0.770 |
GeneticVariation
|
disease |
CLINVAR |
Molecular and clinical characterization of cardio-facio-cutaneous (CFC) syndrome: overlapping clinical manifestations with Costello syndrome.
|
17366577 |
2007 |
Noonan Syndrome
|
0.770 |
CausalMutation
|
disease |
CLINVAR |
KRAS and BRAF oncogenic mutations in MSS colorectal carcinoma progression.
|
16953233 |
2007 |
Noonan Syndrome
|
0.770 |
GeneticVariation
|
disease |
CLINVAR |
Mutation analysis of BRAF, MEK1 and MEK2 in 15 ovarian cancer cell lines: implications for therapy.
|
18060073 |
2007 |
Noonan Syndrome
|
0.770 |
Biomarker
|
disease |
CTD_human |
Cardiofaciocutaneous (CFC) syndrome associated with muscular coenzyme Q10 deficiency.
|
17703371 |
2007 |
Noonan Syndrome
|
0.770 |
Biomarker
|
disease |
CLINGEN |
Germline gain-of-function mutations in RAF1 cause Noonan syndrome.
|
17603482 |
2007 |
Noonan Syndrome
|
0.770 |
CausalMutation
|
disease |
CLINVAR |
Neurological complications of cardio-facio-cutaneous syndrome.
|
18039235 |
2007 |
Noonan Syndrome
|
0.770 |
Biomarker
|
disease |
BEFREE |
We thus suggest involvement of BRAF in the pathogenesis of NS also.
|
18456719 |
2008 |
Noonan Syndrome
|
0.770 |
GeneticVariation
|
disease |
CLINVAR |
Biochemical characterization of novel germline BRAF and MEK mutations in cardio-facio-cutaneous syndrome.
|
18413255 |
2008 |
Noonan Syndrome
|
0.770 |
CausalMutation
|
disease |
CLINVAR |
In one patient with NS, we also identified a mutation, BRAF K499E, that has previously been reported in patients with CFC.
|
18456719 |
2008 |
Noonan Syndrome
|
0.770 |
CausalMutation
|
disease |
CLINVAR |
Biochemical characterization of novel germline BRAF and MEK mutations in cardio-facio-cutaneous syndrome.
|
18413255 |
2008 |
Noonan Syndrome
|
0.770 |
Biomarker
|
disease |
CLINGEN |
In one patient with NS, we also identified a mutation, BRAF K499E, that has previously been reported in patients with CFC.
|
18456719 |
2008 |
Noonan Syndrome
|
0.770 |
CausalMutation
|
disease |
CLINVAR |
p16INK4a expression and absence of activated B-RAF are independent predictors of chemosensitivity in melanoma tumors.
|
18953432 |
2008 |
Noonan Syndrome
|
0.770 |
CausalMutation
|
disease |
CLINVAR |
Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome.
|
18042262 |
2008 |
Noonan Syndrome
|
0.770 |
CausalMutation
|
disease |
CLINVAR |
Kinase-activating and kinase-impaired cardio-facio-cutaneous syndrome alleles have activity during zebrafish development and are sensitive to small molecule inhibitors.
|
19376813 |
2009 |
Noonan Syndrome
|
0.770 |
CausalMutation
|
disease |
CLINVAR |
Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum.
|
19206169 |
2009 |
Noonan Syndrome
|
0.770 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum.
|
19206169 |
2009 |
Noonan Syndrome
|
0.770 |
Biomarker
|
disease |
CLINGEN |
Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum.
|
19206169 |
2009 |
Noonan Syndrome
|
0.770 |
GermlineCausalMutation
|
disease |
ORPHANET |
Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum.
|
19206169 |
2009 |