(Q54414127)

29 May 2018

title

Novel association of neurofibromatosis type 1-causing mutations in families with neurofibromatosis-Noonan syndrome. (English)

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29 May 2018

author

Mauno Vihinen

4

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29 May 2018

author name string

Sara Ekvall

1

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29 May 2018

Kerstin Sjörs

2

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29 May 2018

Anders Jonzon

3

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29 May 2018

Göran Annerén

5

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29 May 2018

Marie-Louise Bondeson

6

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29 May 2018

language of work or name

English

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publication date

19 December 2013

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29 May 2018

American Journal of Medical Genetics

published in

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29 May 2018

volume

164A

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29 May 2018

issue

3

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29 May 2018

page(s)

579-587

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29 May 2018

Recurrent mutations in the NF1 gene are common among neurofibromatosis type 1 patients

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1 reference

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Germline loss-of-function mutations in SPRED1 cause a neurofibromatosis 1-like phenotype

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A restricted spectrum of NRAS mutations causes Noonan syndrome

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

21 January 2018

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NF1 gene mutations represent the major molecular event underlying neurofibromatosis-Noonan syndrome

21 January 2018

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Minor lesion mutational spectrum of the entire NF1 gene does not explain its high mutability but points to a functional domain upstream of the GAP-related domain

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Nearby stop codons in exons of the neurofibromatosis type 1 gene are disparate splice effectors

21 January 2018

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Skewed allele-specific expression of the NF1 gene in normal subjects: a possible mechanism for phenotypic variability in neurofibromatosis type 1.

21 January 2018

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Gene deletions causing human genetic disease: mechanisms of mutagenesis and the role of the local DNA sequence environment

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Heterozygous germline mutations in the CBL tumor-suppressor gene cause a Noonan syndrome-like phenotype.

21 January 2018

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Characterisation of two different nonsense mutations, C6792A and C6792G, causing skipping of exon 37 in the NF1 gene.

21 January 2018

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Clinical manifestations in patients with SOS1 mutations range from Noonan syndrome to CFC syndrome

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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.

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Noonan syndrome and neurofibromatosis type I in a family with a novel mutation in NF1.

21 January 2018

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A severe form of Noonan syndrome and autosomal dominant café-au-lait spots - evidence for different genetic origins.

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Germline gain-of-function mutations in RAF1 cause Noonan syndrome

21 January 2018

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Two recurrent nonsense mutations and a 4 bp deletion in a quasi-symmetric element in exon 37 of the NF1 gene

21 January 2018

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

21 January 2018

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[Neurofibromatosis type 1 and associated clinical abnormalities in 27 children]

21 January 2018

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Noonan syndrome and clinically related disorders

21 January 2018

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The RASopathies: developmental syndromes of Ras/MAPK pathway dysregulation

21 January 2018

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The sec14 homology module of neurofibromin binds cellular glycerophospholipids: mass spectrometry and structure of a lipid complex

21 January 2018

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Extensive in silico analysis of NF1 splicing defects uncovers determinants for splicing outcome upon 5' splice-site disruption.

21 January 2018

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A new nonsense mutation in the NF1 gene with neurofibromatosis-Noonan syndrome phenotype.

21 January 2018

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Clinical manifestations of mutations in RAS and related intracellular signal transduction factors

21 January 2018

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IndependentNF1andPTPN11mutations in a family with neurofibromatosis-Noonan syndrome

21 January 2018

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21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.A.36313

21 January 2018

Identifiers

DOI

10.1002/AJMG.A.36313

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29 May 2018

PubMed ID

24357598

1 reference

29 May 2018