Neurological complications of cardio-facio-cutaneous syndrome.
about
A Novel SHOC2 Variant in RasopathyThe RASopathies: developmental syndromes of Ras/MAPK pathway dysregulationThe RASopathiesIncrease in cerebellar volume in Cavalier King Charles Spaniels with Chiari-like malformation and its role in the development of syringomyeliaBRaf signaling principles unveiled by large-scale human mutation analysis with a rapid lentivirus-based gene replacement method.Neuroimaging Findings in Pediatric Genetic Skeletal Disorders: A Review.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.Autism traits in the RASopathies.The language phenotype of children and adolescents with Noonan syndrome.Dentate Gyrus Development Requires ERK Activity to Maintain Progenitor Population and MAPK Pathway Feedback Regulation.Deletion of MAP2K2/MEK2: a novel mechanism for a RASopathy?Human Engineered Cardiac Tissues Created Using Induced Pluripotent Stem Cells Reveal Functional Characteristics of BRAF-Mediated Hypertrophic Cardiomyopathy.MEK genomics in development and diseaseRAS and downstream RAF-MEK and PI3K-AKT signaling in neuronal development, function and dysfunctionAutonomous and Non-autonomous Defects Underlie Hypertrophic Cardiomyopathy in BRAF-Mutant hiPSC-Derived Cardiomyocytes.Genotype differences in cognitive functioning in Noonan syndrome.The musculoskeletal phenotype of the RASopathies.Germline mutation in BRAF codon 600 is compatible with human development: de novo p.V600G mutation identified in a patient with CFC syndrome.Patient-derived iPSCs show premature neural differentiation and neuron type-specific phenotypes relevant to neurodevelopment.Skeletal muscle pathology in Costello and cardio-facio-cutaneous syndromes: developmental consequences of germline Ras/MAPK activation on myogenesis.Molecular Diversity and Associated Phenotypic Spectrum of Germline CBL Mutations.Molecular and functional analysis of a novel MEK2 mutation in cardio-facio-cutaneous syndrome: transmission through four generations.Effects of germline mutations in the Ras/MAPK signaling pathway on adaptive behavior: cardiofaciocutaneous syndrome and Noonan syndrome.Behavioral functioning in cardiofaciocutaneous syndrome: Risk factors and impact on parenting experience.Clinical Report: Cognitive decline in a patient with Cardiofaciocutaneous syndrome.Prenatal findings in cardio-facio-cutaneous syndrome.Variability in clinical and neuropsychological features of individuals with MAP2K1 mutations.CNS imaging is a key diagnostic tool in the evaluation of patients with CFC syndrome: two cases and literature review.Mek1Y130C mice recapitulate aspects of human cardio-facio-cutaneous syndrome.High incidence of progressive postnatal cerebellar enlargement in Costello syndrome: brain overgrowth associated with HRAS mutations as the likely cause of structural brain and spinal cord abnormalities.Expanding the SHOC2 mutation associated phenotype of Noonan syndrome with loose anagen hair: structural brain anomalies and myelofibrosisTwo novel germline KRAS mutations: expanding the molecular and clinical phenotypeIntrinsically active MEK variants are differentially regulated by proteinases and phosphatasesEpileptic spasms in PPP1CB-associated Noonan-like syndrome: a case report with clinical and therapeutic implications
P2860
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P2860
Neurological complications of cardio-facio-cutaneous 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
Neurological complications of cardio-facio-cutaneous syndrome.
@en
Neurological complications of cardio-facio-cutaneous syndrome.
@nl
type
label
Neurological complications of cardio-facio-cutaneous syndrome.
@en
Neurological complications of cardio-facio-cutaneous syndrome.
@nl
prefLabel
Neurological complications of cardio-facio-cutaneous syndrome.
@en
Neurological complications of cardio-facio-cutaneous syndrome.
@nl
P2093
P2860
P1476
Neurological complications of cardio-facio-cutaneous syndrome.
@en
P2093
Grace Yoon
Jodine Rosenberg
Katherine A Rauen
Susan Blaser
P2860
P304
P356
10.1111/J.1469-8749.2007.00894.X
P577
2007-12-01T00:00:00Z