Mutation in NRAS in familial Noonan syndrome--case report and review of the literature - Wikidata - awgldk - TriplyDB

Mutation in NRAS in familial Noonan syndrome--case report and review of the literature

Mutation in NRAS in familial Noonan syndrome--case report and review of the literature

http://www.wikidata.org/entity/Q26783023

about

Genetics of inherited cardiocutaneous syndromes: a review Whole-genome sequencing of spermatocytic tumors provides insights into the mutational processes operating in the male germline.1p13.2 deletion displays clinical features overlapping Noonan syndrome, likely related to NRAS gene haploinsufficiency.Testing for Noonan syndrome after increased nuchal translucency.Genotype and phenotype spectrum of NRAS germline variants.

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Mutation in NRAS in familial Noonan syndrome--case report and review of the literature

http://www.wikidata.org/entity/Q26783023

description

2015 nî lūn-bûn

@nan

2015 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած

@hyw

2015 թվականի հոտեմբերին հրատարակված գիտական հոդված

@hy

2015年の論文

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2015年論文

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2015年論文

@zh-hant

2015年論文

@zh-hk

2015年論文

@zh-mo

2015年論文

@zh-tw

2015年论文

@wuu

name

Mutation in NRAS in familial Noonan syndrome--case report and review of the literature

@ast

Mutation in NRAS in familial Noonan syndrome--case report and review of the literature

@en

Mutation in NRAS in familial Noonan syndrome--case report and review of the literature

@nl

type

label

Mutation in NRAS in familial Noonan syndrome--case report and review of the literature

@ast

Mutation in NRAS in familial Noonan syndrome--case report and review of the literature

@en

Mutation in NRAS in familial Noonan syndrome--case report and review of the literature

@nl

prefLabel

Mutation in NRAS in familial Noonan syndrome--case report and review of the literature

@ast

Mutation in NRAS in familial Noonan syndrome--case report and review of the literature

@en

Mutation in NRAS in familial Noonan syndrome--case report and review of the literature

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Arie van Haeringen

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Eric Legius

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Göran Annerén

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Jovanna Dahlgren

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Maria Wilbe

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Marie-Louise Bondeson

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Germline missense mutations affecting KRAS Isoform B are associated with a severe Noonan syndrome phenotype

Activating mutations in RRAS underlie a phenotype within the RASopathy spectrum and contribute to leukaemogenesis

Gain-of-function mutations in RIT1 cause Noonan syndrome, a RAS/MAPK pathway syndrome

Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair

Noonan syndrome

A restricted spectrum of NRAS mutations causes Noonan syndrome

Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy.

Germline gain-of-function mutations in SOS1 cause Noonan syndrome

Germline KRAS mutations cause Noonan syndrome

Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum

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