Molecular and clinical characterization of cardio-facio-cutaneous (CFC) syndrome: overlapping clinical manifestations with Costello syndrome.
about
Gain-of-function mutations in RIT1 cause Noonan syndrome, a RAS/MAPK pathway syndromeNoonan syndromeConstitutive activation of B-Raf in the mouse germ line provides a model for human cardio-facio-cutaneous syndrome.Mutation analysis of BRAF, MEK1 and MEK2 in 15 ovarian cancer cell lines: implications for therapy.Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrumNoonan syndrome: clinical aspects and molecular pathogenesis.Spectrum of MEK1 and MEK2 gene mutations in cardio-facio-cutaneous syndrome and genotype-phenotype correlationsCardio-facio-cutaneous syndrome: clinical features, diagnosis, and management guidelines.Disorders of dysregulated signal traffic through the RAS-MAPK pathway: phenotypic spectrum and molecular mechanismsCardio-facio-cutaneous syndrome with precocious puberty, growth hormone deficiency and hyperprolactinemiaNoonan syndrome and clinically related disorders.Cardio-facio-cutaneous syndrome: does genotype predict phenotype?MEK genomics in development and diseaseDisruption of the ERK/MAPK pathway in neural crest cells as a potential cause of Pierre Robin sequence.What's new in the neuro-cardio-facial-cutaneous syndromes?Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype-phenotype relationships and overlap with Costello syndrome.The RAS/MAPK syndromes: novel roles of the RAS pathway in human genetic disorders.Adults with genetic syndromes and cardiovascular abnormalities: clinical history and management.Noonan, Costello and cardio-facio-cutaneous syndromes: dysregulation of the Ras-MAPK pathway.In vivo severity ranking of Ras pathway mutations associated with developmental disorders.Recent advances in RASopathies.Adult mice expressing a Braf Q241R mutation on an ICR/CD-1 background exhibit a cardio-facio-cutaneous syndrome phenotype.Clinical manifestations in patients with SOS1 mutations range from Noonan syndrome to CFC syndrome.Neurological complications of cardio-facio-cutaneous syndrome.Activated Braf induces esophageal dilation and gastric epithelial hyperplasia in mice.New BRAF knockin mice provide a pathogenetic mechanism of developmental defects and a therapeutic approach in cardio-facio-cutaneous syndrome.Further evidence of genetic heterogeneity in Costello syndrome: involvement of the KRAS gene.Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome.Clinical Report: Cognitive decline in a patient with Cardiofaciocutaneous syndrome.Variability in clinical and neuropsychological features of individuals with MAP2K1 mutations.The perinatal presentation of cardiofaciocutaneous syndrome.Multiple café au lait spots in familial patients with MAP2K2 mutation.Clinical, pathological, and molecular analyses of cardiovascular abnormalities in Costello syndrome: a Ras/MAPK pathway syndrome.The face of Noonan syndrome: Does phenotype predict genotype.
P2860
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P2860
Molecular and clinical characterization of cardio-facio-cutaneous (CFC) syndrome: overlapping clinical manifestations with Costello syndrome.
description
2007 nî lūn-bûn
@nan
2007年の論文
@ja
2007年学术文章
@wuu
2007年学术文章
@zh
2007年学术文章
@zh-cn
2007年学术文章
@zh-hans
2007年学术文章
@zh-my
2007年学术文章
@zh-sg
2007年學術文章
@yue
2007年學術文章
@zh-hant
name
Molecular and clinical charact ...... ations with Costello syndrome.
@en
Molecular and clinical characterization of cardio-facio-cutaneous
@nl
type
label
Molecular and clinical charact ...... ations with Costello syndrome.
@en
Molecular and clinical characterization of cardio-facio-cutaneous
@nl
prefLabel
Molecular and clinical charact ...... ations with Costello syndrome.
@en
Molecular and clinical characterization of cardio-facio-cutaneous
@nl
P2093
P356
P1476
Molecular and clinical charact ...... ations with Costello syndrome.
@en
P2093
Caroline Nava
Dagmar Wieczorek
Etsuro Ito
Gabriele Gillessen-Kaesbach
Giovanni Neri
Hirofumi Ohashi
Hélène Cavé
Ikuko Kondo
Kenji Kurosawa
Kiyoko Sameshima
P304
P356
10.1002/AJMG.A.31658
P407
P577
2007-04-01T00:00:00Z