Noonan Syndrome
|
0.770 |
GeneticVariation
|
disease |
BEFREE |
Cardiofaciocutaneous syndrome (CFCS) is a rare developmental disorder that is phenotypically similar to Noonan syndrome and is associated with mutations in BRAF, MEK1, MEK2, and KRAS.
|
31125963 |
2019 |
Noonan Syndrome
|
0.770 |
GeneticVariation
|
disease |
BEFREE |
TS/WES revealed three mutations in the PTPN11 gene, three mutations in RAF1 gene, and four mutations in BRAF gene in the NS and NSML patients who were previously diagnosed based on the abovementioned clinical features.
|
29084544 |
2017 |
Noonan Syndrome
|
0.770 |
CausalMutation
|
disease |
CLINVAR |
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
|
26619011 |
2016 |
Noonan Syndrome
|
0.770 |
Biomarker
|
disease |
CLINGEN |
Ocular Manifestations of Noonan Syndrome: A Prospective Clinical and Genetic Study of 25 Patients.
|
27521173 |
2016 |
Noonan Syndrome
|
0.770 |
CausalMutation
|
disease |
CLINVAR |
Diagnosis of Noonan syndrome and related disorders using target next generation sequencing.
|
24451042 |
2014 |
Noonan Syndrome
|
0.770 |
CausalMutation
|
disease |
CLINVAR |
Structure-energy-based predictions and network modelling of RASopathy and cancer missense mutations.
|
24803665 |
2014 |
Noonan Syndrome
|
0.770 |
GeneticVariation
|
disease |
BEFREE |
We screened GCTBs for mutations in PTPN11 and BRAF to determine whether GCTBs develop through alterations of genes involved in Noonan syndrome.MSC were isolated from 10 GCTBs.
|
22725657 |
2013 |
Noonan Syndrome
|
0.770 |
Biomarker
|
disease |
CLINGEN |
The RASopathies.
|
23875798 |
2013 |
Noonan Syndrome
|
0.770 |
CausalMutation
|
disease |
CLINVAR |
Immunohistochemistry is highly sensitive and specific for the detection of V600E BRAF mutation in melanoma.
|
23026937 |
2013 |
Noonan Syndrome
|
0.770 |
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 |
Noonan Syndrome
|
0.770 |
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 |
Noonan Syndrome
|
0.770 |
Biomarker
|
disease |
BEFREE |
Increased BRAF heterodimerization is the common pathogenic mechanism for noonan syndrome-associated RAF1 mutants.
|
22826437 |
2012 |
Noonan Syndrome
|
0.770 |
CausalMutation
|
disease |
CLINVAR |
A structural systems biology approach for quantifying the systemic consequences of missense mutations in proteins.
|
23093928 |
2012 |
Noonan Syndrome
|
0.770 |
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 |
Noonan Syndrome
|
0.770 |
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 |
Noonan Syndrome
|
0.770 |
Biomarker
|
disease |
CLINGEN |
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 |
Noonan Syndrome
|
0.770 |
CausalMutation
|
disease |
CLINVAR |
Non-hodgkin lymphoma in a patient with cardiofaciocutaneous syndrome.
|
20523244 |
2011 |
Noonan Syndrome
|
0.770 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Noonan syndrome and clinically related disorders.
|
21396583 |
2011 |
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 |
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 |