Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype-phenotype relationships and overlap with Costello syndrome.
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Mutation in NRAS in familial Noonan syndrome--case report and review of the literatureThe molecular basis of cognitive deficits in pervasive developmental disordersNoonan syndromeGenes with high penetrance for syndromic and non-syndromic autism typically function within the nucleus and regulate gene expression.MEK1 mutations confer resistance to MEK and B-RAF inhibition.High-throughput sequencing of mGluR signaling pathway genes reveals enrichment of rare variants in autismGenotype and phenotype in patients with Noonan syndrome and a RIT1 mutation.A structural systems biology approach for quantifying the systemic consequences of missense mutations in proteins.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 spectrumRare copy number variations containing genes involved in RASopathies: deletion of SHOC2 and duplication of PTPN11.Noonan syndrome: clinical aspects and molecular pathogenesis.Next-generation sequencing identifies rare variants associated with Noonan syndromeHeterozygous germline mutations in the CBL tumor-suppressor gene cause a Noonan syndrome-like phenotype.Spectrum of MEK1 and MEK2 gene mutations in cardio-facio-cutaneous syndrome and genotype-phenotype correlationsRas in cancer and developmental diseasesCardio-facio-cutaneous syndrome: clinical features, diagnosis, and management guidelines.SOS1 and PTPN11 mutations in five cases of Noonan syndrome with multiple giant cell lesions.Disorders of dysregulated signal traffic through the RAS-MAPK pathway: phenotypic spectrum and molecular mechanismsAutism traits in the RASopathies.Noonan syndrome and clinically related disorders.Cardio-facio-cutaneous syndrome: does genotype predict phenotype?Cyclosporine attenuates cardiomyocyte hypertrophy induced by RAF1 mutants in Noonan and LEOPARD syndromes.Comprehensive massive parallel DNA sequencing strategy for the genetic diagnosis of the neuro-cardio-facio-cutaneous syndromes.Oncogenic and RASopathy-associated K-RAS mutations relieve membrane-dependent occlusion of the effector-binding site.Oncogene mutation profiling of pediatric solid tumors reveals significant subsets of embryonal rhabdomyosarcoma and neuroblastoma with mutated genes in growth signaling pathways.Deletion of MAP2K2/MEK2: a novel mechanism for a RASopathy?MEK genomics in development and diseaseGenetic study of congenital bile-duct dilatation identifies de novo and inherited variants in functionally related genesReverse Pathway Genetic Approach Identifies Epistasis in Autism Spectrum Disorders.Desmoglein-1, differentiation, and disease.The lymphatic phenotype in Noonan and Cardiofaciocutaneous syndrome.Prenatal diagnostic testing of the Noonan syndrome genes in fetuses with abnormal ultrasound findings.Noonan, Costello and cardio-facio-cutaneous syndromes: dysregulation of the Ras-MAPK pathway.Molecular screening strategies for NF1-like syndromes with café-au-lait macules (Review).Noonan syndrome - a new survey.Diagnosis of Noonan syndrome and related disorders using target next generation sequencing.In vivo severity ranking of Ras pathway mutations associated with developmental disorders.Mechanisms of acquired resistance to ERK1/2 pathway inhibitors.Malignancy in Noonan syndrome and related disorders.
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Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype-phenotype relationships and overlap with Costello syndrome.
description
article científic
@ca
article scientifique
@fr
articolo scientifico
@it
artigo científico
@pt
bilimsel makale
@tr
scientific article published on 17 August 2007
@en
vedecký článok
@sk
vetenskaplig artikel
@sv
videnskabelig artikel
@da
vědecký článek
@cs
name
Cardio-facio-cutaneous and Noo ...... verlap with Costello syndrome.
@en
Cardio-facio-cutaneous and Noo ...... verlap with Costello syndrome.
@nl
type
label
Cardio-facio-cutaneous and Noo ...... verlap with Costello syndrome.
@en
Cardio-facio-cutaneous and Noo ...... verlap with Costello syndrome.
@nl
prefLabel
Cardio-facio-cutaneous and Noo ...... verlap with Costello syndrome.
@en
Cardio-facio-cutaneous and Noo ...... verlap with Costello syndrome.
@nl
P2093
P2860
P50
P356
P1476
Cardio-facio-cutaneous and Noo ...... overlap with Costello syndrome
@en
P2093
Alain Verloes
Alice Goldenberg
Benoit Arveiler
Bruno Leheup
Béatrice Parfait
Caroline Nava
Clarisse Baumann
Delphine Héron
Nathalie Pouvreau
Sabine Sigaudy
P2860
P304
P356
10.1136/JMG.2007.050450
P407
P577
2007-08-17T00:00:00Z