(Q33778184)

29 July 2017

title

Dermatological findings in 61 mutation-positive individuals with cardiofaciocutaneous syndrome (English)

1 reference

cardiofaciocutaneous syndrome

29 July 2017

main subject

1 reference

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A21062266

23 August 2024

D. H. Siegel

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A21062266

23 August 2024

I. J. Frieden

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A21062266

23 August 2024

J. McKenzie

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A21062266

23 August 2024

K. A. Rauen

series ordinal

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A21062266

23 August 2024

language of work or name

English

0 references

publication date

28 January 2011

1 reference

full work available at URL

29 July 2017

https://europepmc.org/articles/pmc4063552?pdf=render

file format

Portable Document Format

online access status

open access

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A21062266

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/21062266/pdf/?tool=EBI

23 August 2024

file format

Portable Document Format

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A21062266

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/21062266/?tool=EBI

23 August 2024

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A21062266

https://europepmc.org/articles/PMC4063552

23 August 2024

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A21062266

https://europepmc.org/articles/PMC4063552?pdf=render

23 August 2024

file format

Portable Document Format

online access status

open access

content deliverer

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A21062266

https://doi.org/10.1111/j.1365-2133.2010.10122.x

23 August 2024

online access status

open access

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A21062266

https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1111%2Fj.1365-2133.2010.10122.x

23 August 2024

1 reference

10.1111/J.1365-2133.2010.10122.X

DOI

https://api.crossref.org/works/10.1111/J.1365-2133.2010.10122.X

http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1365-2133.2010.10122.x/fullpdf

23 August 2024

1 reference

10.1111/J.1365-2133.2010.10122.X

DOI

https://api.crossref.org/works/10.1111/J.1365-2133.2010.10122.X

British Journal of Dermatology

23 August 2024

published in

1 reference

29 July 2017

volume

164

1 reference

29 July 2017

1 reference

29 July 2017

page(s)

521-529

1 reference

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

29 July 2017

cites work

1 reference

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Filaggrin haploinsufficiency is highly penetrant and is associated with increased severity of eczema: further delineation of the skin phenotype in a prospective epidemiological study of 792 school children.

4 July 2018

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Glucose deprivation contributes to the development of KRAS pathway mutations in tumor cells

4 July 2018

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4 July 2018

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Melanocytic nevus development in Colorado children born in 1998: a longitudinal study

4 July 2018

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

4 July 2018

1 reference

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Noonan, Costello and cardio-facio-cutaneous syndromes: dysregulation of the Ras-MAPK pathway

4 July 2018

1 reference

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Novel MEK1 mutation identified by mutational analysis of epidermal growth factor receptor signaling pathway genes in lung adenocarcinoma

4 July 2018

1 reference

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Infantile hemangiomas: how common are they? A systematic review of the medical literature

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4063552

Mutation analysis of BRAF, MEK1 and MEK2 in 15 ovarian cancer cell lines: implications for therapy

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4063552

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

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4063552

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

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4063552

Cutaneous manifestations of Costello syndrome

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4063552

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

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4063552

Germline KRAS mutations cause Noonan syndrome

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4063552

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

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4063552

Germline mutations in HRAS proto-oncogene cause Costello syndrome

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4063552

Capillary malformation-arteriovenous malformation, a new clinical and genetic disorder caused by RASA1 mutations

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4063552

GLUT1 immunoreaction patterns reliably distinguish hemangioblastoma from metastatic renal cell carcinoma

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4063552

High frequency of BRAF mutations in nevi

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4063552

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

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4063552

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

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4063552

GLUT1: a newly discovered immunohistochemical marker for juvenile hemangiomas

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4063552

Constitutive activation of the 41-/43-kDa mitogen-activated protein kinase signaling pathway in human tumors

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4063552

Risk of cutaneous melanoma in relation to the numbers, types and sites of naevi: a case-control study

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4063552

ras oncogenes in human cancer: a review

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4063552

Type 1 neurofibromatosis gene: identification of a large transcript disrupted in three NF1 patients

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4063552

A major segment of the neurofibromatosis type 1 gene: cDNA sequence, genomic structure, and point mutations

4 July 2018

1 reference

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Deletions and a translocation interrupt a cloned gene at the neurofibromatosis type 1 locus.

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4063552

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

4 July 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2010.10122.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2010.10122.X

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/10.1111%2FJ.1365-2133.2010.10122.X

RAF/RAS oncogenes and mismatch-repair status

21 January 2018

1 reference

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21 January 2018

1 reference

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The prevalence of melanocytic naevi among teenagers

30 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21062266

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Cutaneous symptoms in a patient with cardiofaciocutaneous syndrome and increased ERK phosphorylation in skin fibroblasts

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21062266

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Verrucous papules and plaques in a pediatric patient: cutaneous papillomas associated with Costello syndrome

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21062266

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1111/J.1365-2133.2010.10122.X

1 reference

29 July 2017

1 reference

29 July 2017

1 reference