|
Cardio-facio-cutaneous syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
LEOPARD syndrome: a variant of Noonan syndrome strongly associated with hypertrophic cardiomyopathy.
|
24775816 |
2013 |
|
Cardio-facio-cutaneous syndrome
|
1.000 |
Biomarker
|
disease |
CLINGEN |
The RASopathies.
|
23875798 |
2013 |
|
Cardio-facio-cutaneous syndrome
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
The RASopathies.
|
23875798 |
2013 |
|
Cardio-facio-cutaneous syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Immunohistochemistry is highly sensitive and specific for the detection of V600E BRAF mutation in melanoma.
|
23026937 |
2013 |
|
Cardio-facio-cutaneous syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Epilepsy in RAS/MAPK syndrome: two cases of cardio-facio-cutaneous syndrome with epileptic encephalopathy and a literature review.
|
21871821 |
2012 |
|
Cardio-facio-cutaneous syndrome
|
1.000 |
CausalMutation
|
disease |
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 |
|
Cardio-facio-cutaneous syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
A structural systems biology approach for quantifying the systemic consequences of missense mutations in proteins.
|
23093928 |
2012 |
|
Cardio-facio-cutaneous syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Prevalence and clinical features of Costello syndrome and cardio-facio-cutaneous syndrome in Japan: findings from a nationwide epidemiological survey.
|
22495831 |
2012 |
|
Cardio-facio-cutaneous syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
A structural systems biology approach for quantifying the systemic consequences of missense mutations in proteins.
|
23093928 |
2012 |
|
Cardio-facio-cutaneous syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
A cardio-facio-cutaneous syndrome case with tight Achilles tendons.
|
22876591 |
2012 |
|
Cardio-facio-cutaneous syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Continual low-level MEK inhibition ameliorates cardio-facio-cutaneous phenotypes in zebrafish.
|
22301711 |
2012 |
|
Cardio-facio-cutaneous syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Genetic analysis revealed individual heterozygous mutations in the KRAS (phenotype of CFC/Noonan syndrome) and BRAF genes (phenotype of CFC syndrome).
|
21871821 |
2012 |
|
Cardio-facio-cutaneous syndrome
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Noonan syndrome and clinically related disorders.
|
21396583 |
2011 |
|
Cardio-facio-cutaneous syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
BRAF mutations are involved in more than 80% of CFC syndrome patients, and we have reported earlier that 2 CFC patients with BRAF mutations developed acute lymphoblastic leukemia.
|
20523244 |
2011 |
|
Cardio-facio-cutaneous syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Spectrum of mutations in Noonan syndrome and their correlation with phenotypes.
|
21784453 |
2011 |
|
Cardio-facio-cutaneous syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Mitochondrial dysfunction and organic aciduria in five patients carrying mutations in the Ras-MAPK pathway.
|
21063443 |
2011 |
|
Cardio-facio-cutaneous syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A girl with cardio-facio-cutaneous (CFC) syndrome due to a BRAF gene mutation (c.1454T→C, p.L485S) experienced repetitive epileptic spasms at the corrected age of 4 months.
|
20395089 |
2011 |
|
Cardio-facio-cutaneous syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
B-Raf+/LSLV600E mice are viable and display several of the characteristic features observed in CFC patients, including reduced life span, small size, facial dysmorphism, cardiomegaly, and epileptic seizures.
|
21383153 |
2011 |
|
Cardio-facio-cutaneous syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Here, we present a patient with CFC syndrome and a de novo germline mutation involving codon 600 of BRAF, thus providing the first evidence that a pathogenic germline mutation involving this critical codon is not only compatible with development but can also cause the CFC phenotype.
|
20735442 |
2011 |
|
Cardio-facio-cutaneous syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
PTPN11 (39.0%), SOS1 (20.3%), RAF1 (6.8%), KRAS (5.1%), and BRAF (1.7%) mutations were identified in NS; BRAF (41.2%), SHOC2 (23.5%), and MEK1 (5.9%) mutations in cardiofaciocutaneous syndrome; and HRAS and PTPN11 mutations in Costello syndrome and LEOPARD syndrome, respectively.
|
21784453 |
2011 |
|
Cardio-facio-cutaneous syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Cardio-facio-cutaneous syndrome with infantile spasms and delayed myelination.
|
20395089 |
2011 |
|
Cardio-facio-cutaneous syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Non-hodgkin lymphoma in a patient with cardiofaciocutaneous syndrome.
|
20523244 |
2011 |
|
Cardio-facio-cutaneous syndrome
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
Cardio-facio-cutaneous (CFC) syndrome is one of the RASopathies and is caused by alteration of activity through the Ras/mitogen-activated protein kinase (MAPK) pathway due to heterozygous de novo mutations in protein kinases BRAF, MEK1, or MEK2.
|
20358587 |
2010 |
|
Cardio-facio-cutaneous syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Effects of germline mutations in the Ras/MAPK signaling pathway on adaptive behavior: cardiofaciocutaneous syndrome and Noonan syndrome.
|
20186801 |
2010 |
|
Cardio-facio-cutaneous syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
Mutation of several genes in the RAS/MAPK (mitogen activated protein kinase) signaling pathway, most commonly BRAF, results in CFC syndrome.
|
20859831 |
2010 |