(Q34906349)

5 August 2017

title

Cardio-facio-cutaneous syndrome: does genotype predict phenotype? (English)

1 reference

5 August 2017

1 reference

11

Alain Verloes

1 reference

5 August 2017

12

Martin Zenker

1 reference

5 August 2017

6

Helene Cave

2 references

ORCID Public Data File 2021

5 August 2017

1

Judith E Allanson

1 reference

5 August 2017

7

Karen W Gripp

1 reference

5 August 2017

Göran Annerén

2

1 reference

5 August 2017

Yoki Aoki

3

1 reference

5 August 2017

Christine M Armour

4

1 reference

5 August 2017

Marie-Louise Bondeson

5

1 reference

5 August 2017

Bronwyn Kerr

8

1 reference

5 August 2017

Anna-Maja Nystrom

9

1 reference

5 August 2017

Katia Sol-Church

10

1 reference

5 August 2017

publication date

14 April 2011

1 reference

American Journal of Medical Genetics Part C: Seminars in Medical Genetics

5 August 2017

published in

1 reference

5 August 2017

volume

157C

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5 August 2017

issue

2

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5 August 2017

page(s)

129-135

1 reference

Dermatological findings in 61 mutation-positive individuals with cardiofaciocutaneous syndrome

5 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3086095

A restricted spectrum of NRAS mutations causes Noonan syndrome

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3086095

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3086095

Multiple giant cell lesions in patients with Noonan syndrome and cardio-facio-cutaneous syndrome

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3086095

Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype-phenotype relationships and overlap with Costello syndrome.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3086095

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3086095

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3086095

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3086095

Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3086095

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3086095

Germline mutations in HRAS proto-oncogene cause Costello syndrome

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3086095

CFC index for the diagnosis of cardiofaciocutaneous syndrome

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3086095

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3086095

New multiple congenital anomalies/mental retardation syndrome with cardio-facio-cutaneous involvement--the CFC syndrome

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3086095

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

8 July 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30295

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30295

Clinical, pathological, and molecular analyses of cardiovascular abnormalities in Costello syndrome: a Ras/MAPK pathway syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30295

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/10.1002%2FAJMG.C.30295

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30295

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30295

Non-hodgkin lymphoma in a patient with cardiofaciocutaneous syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30295

CNS imaging is a key diagnostic tool in the evaluation of patients with CFC syndrome: two cases and literature review.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30295

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30295

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30295

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30295

Acute lymphoblastic leukaemia in a patient with cardiofaciocutaneous syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30295

Hepatoblastoma and heart transplantation in a patient with 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=3086095

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

26 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21495173

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1002/AJMG.C.30295

1 reference

5 August 2017

1 reference

5 August 2017

1 reference