Mutation in NRAS in familial Noonan syndrome--case report and review of the literature (Q26783023)

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Jovanna Dahlgren

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Eric Legius

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Arie van Haeringen

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Otto Westphal

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Göran Annerén

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Marie-Louise Bondeson

Creative Commons Attribution 4.0 International

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language of work or name

English

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publication date

14 October 2015

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issue

1

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page(s)

95

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copyright license

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22 March 2019

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28 September 2019

15 December 2019

6 November 2020

on focus list of Wikimedia project

19 November 2020

copyright status

copyrighted

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ScienceSource

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exact match

https://scigraph.springernature.com/pub.10.1186/s12881-015-0239-1

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cites work

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

1 reference

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

7 April 2017

1 reference

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4607013

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4607013

7 April 2017

1 reference

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A restricted spectrum of NRAS mutations causes Noonan syndrome

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4607013

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

7 April 2017

1 reference

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

7 April 2017

1 reference

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Germline KRAS mutations cause Noonan syndrome

7 April 2017

1 reference

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Cancer spectrum and frequency among children with Noonan, Costello, and cardio-facio-cutaneous syndromes

7 April 2017

1 reference

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Disorders of dysregulated signal traffic through the RAS-MAPK pathway: phenotypic spectrum and molecular mechanisms

28 September 2017

1 reference

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Germline CBL mutations cause developmental abnormalities and predispose to juvenile myelomonocytic leukemia

28 September 2017

1 reference

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Noonan syndrome: clinical aspects and molecular pathogenesis

28 September 2017

1 reference

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

28 September 2017

1 reference

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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.

28 September 2017

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

28 September 2017

1 reference

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NRAS Mutations in Noonan Syndrome.

28 September 2017

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Noonan syndrome gain-of-function mutations in NRAS cause zebrafish gastrulation defects

31 May 2018

1 reference

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Germline mutations of the CBL gene define a new genetic syndrome with predisposition to juvenile myelomonocytic leukaemia.

31 May 2018

1 reference

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Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome.

31 May 2018

1 reference

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Germ-line mutation of the NRAS gene may be responsible for the development of juvenile myelomonocytic leukaemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS12881-015-0239-1

Constitutional NRAS mutations are rare among patients with Noonan syndrome or juvenile myelomonocytic leukemia.

21 January 2018

1 reference

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Juvenile myelomonocytic leukaemia and Noonan syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS12881-015-0239-1

Loss of CBL E3-ligase activity in B-lineage childhood acute lymphoblastic leukaemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS12881-015-0239-1

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS12881-015-0239-1

21 January 2018

1 reference

https://pubmed.ncbi.nlm.nih.gov/26467218

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1186/S12881-015-0239-1

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

4677953

Dimensions Publication ID

1031945481

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OpenCitations bibliographic resource ID

4677953

1 reference