(Q34161616)

31 July 2017

title

Spectrum of MEK1 and MEK2 gene mutations in cardio-facio-cutaneous syndrome and genotype-phenotype correlations (English)

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31 July 2017

5

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31 July 2017

12

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31 July 2017

13

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31 July 2017

Viviana Cordeddu

7

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Rosangela Ferese

object named as

Rosangela Ferese

6

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Claudio Carta

object named as

Claudio Carta

4

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Francesca Pantaleoni

3

object named as

Francesca Pantaleoni

1 reference

31 July 2017

Maria Lisa Dentici

1

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31 July 2017

Anna Sarkozy

2

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31 July 2017

Simone Martinelli

8

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31 July 2017

Silvana Briuglia

9

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31 July 2017

Maria Cristina Digilio

10

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31 July 2017

Giuseppe Zampino

11

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31 July 2017

publication date

21 January 2009

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European Journal of Human Genetics

31 July 2017

published in

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31 July 2017

volume

17

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31 July 2017

issue

6

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31 July 2017

page(s)

733-740

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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.

31 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947095

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947095

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947095

Hyperactive Ras in developmental disorders and cancer

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947095

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947095

The MEK/ERK cascade: from signaling specificity to diverse functions

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947095

The cardiofaciocutaneous syndrome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947095

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947095

Stops along the RAS pathway in human genetic disease

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947095

Germline KRAS mutations cause Noonan syndrome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947095

Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947095

Germline mutations in HRAS proto-oncogene cause Costello syndrome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947095

CFC index for the diagnosis of cardiofaciocutaneous syndrome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947095

Grouping of multiple-lentigines/LEOPARD and Noonan syndromes on the PTPN11 gene

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947095

Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947095

Congenital heart diseases in children with Noonan syndrome: An expanded cardiac spectrum with high prevalence of atrioventricular canal

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947095

Molecular and clinical characterization of cardio-facio-cutaneous (CFC) syndrome: overlapping clinical manifestations with Costello syndrome.

5 July 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.256

Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.256

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.256

Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.256

Noonan and cardio-facio-cutaneous syndromes: two clinically and genetically overlapping disorders.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.256

Further delineation of cardio-facio-cutaneous syndrome: clinical features of 38 individuals with proven mutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.256

Acute lymphoblastic leukaemia in a patient with cardiofaciocutaneous syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.256

Leukemia in Cardio-facio-cutaneous (CFC) syndrome: a patient with a germline mutation in BRAF proto-oncogene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.256

Neurological complications of cardio-facio-cutaneous syndrome

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947095

Hepatoblastoma and heart transplantation in a patient with cardio-facio-cutaneous syndrome

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947095

Further delineation of the phenotype resulting from BRAF or MEK1 germline mutations helps differentiate cardio-facio-cutaneous syndrome from Costello syndrome

28 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19156172

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/EJHG.2008.256

1 reference

31 July 2017

1 reference

31 July 2017

1 reference