(Q36716705)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26778290%20AND%20SRC:MED&resulttype=core&format=json

5 March 2020

title

Mosaic Activating Mutations in GNA11 and GNAQ Are Associated with Phakomatosis Pigmentovascularis and Extensive Dermal Melanocytosis (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26778290%20AND%20SRC:MED&resulttype=core&format=json

Phakomatosis pigmentovascularis

5 March 2020

main subject

1 reference

inferred from title

author

Ryan F.L. O'Shaughnessy

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26778290%20AND%20SRC:MED&resulttype=core&format=json

5 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26778290%20AND%20SRC:MED&resulttype=core&format=json

5 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26778290%20AND%20SRC:MED&resulttype=core&format=json

5 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26778290%20AND%20SRC:MED&resulttype=core&format=json

5 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26778290%20AND%20SRC:MED&resulttype=core&format=json

5 March 2020

E Elizabeth Patton

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26778290%20AND%20SRC:MED&resulttype=core&format=json

5 March 2020

Christine Chiaverini

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26778290%20AND%20SRC:MED&resulttype=core&format=json

5 March 2020

Emmanuelle Bourrat

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26778290%20AND%20SRC:MED&resulttype=core&format=json

5 March 2020

Anna C Thomas

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26778290%20AND%20SRC:MED&resulttype=core&format=json

5 March 2020

Zhiqiang Zeng

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26778290%20AND%20SRC:MED&resulttype=core&format=json

5 March 2020

Jean-Baptiste Rivière

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26778290%20AND%20SRC:MED&resulttype=core&format=json

5 March 2020

Lara Al-Olabi

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26778290%20AND%20SRC:MED&resulttype=core&format=json

5 March 2020

Judith St-Onge

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26778290%20AND%20SRC:MED&resulttype=core&format=json

5 March 2020

David J Atherton

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26778290%20AND%20SRC:MED&resulttype=core&format=json

5 March 2020

Hélène Aubert

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26778290%20AND%20SRC:MED&resulttype=core&format=json

5 March 2020

Lorea Bagazgoitia

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26778290%20AND%20SRC:MED&resulttype=core&format=json

5 March 2020

W Kling Chong

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26778290%20AND%20SRC:MED&resulttype=core&format=json

5 March 2020

Yannis Duffourd

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26778290%20AND%20SRC:MED&resulttype=core&format=json

5 March 2020

Mary Glover

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26778290%20AND%20SRC:MED&resulttype=core&format=json

5 March 2020

Leopold Groesser

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26778290%20AND%20SRC:MED&resulttype=core&format=json

5 March 2020

Henning Hamm

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26778290%20AND%20SRC:MED&resulttype=core&format=json

5 March 2020

Rudolf Happle

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26778290%20AND%20SRC:MED&resulttype=core&format=json

5 March 2020

Imran Mushtaq

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26778290%20AND%20SRC:MED&resulttype=core&format=json

5 March 2020

Regula Waelchli

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26778290%20AND%20SRC:MED&resulttype=core&format=json

5 March 2020

Marion Wobser

1 reference

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5 March 2020

Veronica A Kinsler

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26778290%20AND%20SRC:MED&resulttype=core&format=json

5 March 2020

language of work or name

English

0 references

publication date

14 January 2016

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26778290%20AND%20SRC:MED&resulttype=core&format=json

full work available at URL

5 March 2020

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4803466

0 references

published in

Journal of Investigative Dermatology

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26778290%20AND%20SRC:MED&resulttype=core&format=json

5 March 2020

volume

136

1 reference

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5 March 2020

issue

1 reference

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5 March 2020

page(s)

770-778

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26778290%20AND%20SRC:MED&resulttype=core&format=json

describes a project that uses

5 March 2020

ImageJ

1 reference

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4803466/fullTextXML

inferred from PubMed Central ID database lookup

cites work

Autosomal dominant hypoparathyroidism caused by germline mutation in GNA11: phenotypic and molecular characterization

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4803466

Mutations affecting G-protein subunit α11 in hypercalcemia and hypocalcemia

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4803466

Association of ocular and oculodermal melanocytosis with the rate of uveal melanoma metastasis: analysis of 7872 consecutive eyes

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4803466

Sturge-Weber syndrome and port-wine stains caused by somatic mutation in GNAQ

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4803466

Multiple congenital melanocytic nevi and neurocutaneous melanosis are caused by postzygotic mutations in codon 61 of NRAS

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4803466

De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4803466

Mutations in GNA11 in uveal melanoma

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4803466

Frequent somatic mutations of GNAQ in uveal melanoma and blue naevi

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4803466

Cutis tricolor coexistent with cutis marmorata telangiectatica congenita: "phacomatosis achromico-melano-marmorata".

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4803466

The Tol2kit: a multisite gateway-based construction kit for Tol2 transposon transgenesis constructs

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4803466

Effects of G-protein mutations on skin color

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4803466

Association of dermal melanocytosis with lysosomal storage disease: clinical features and hypotheses regarding pathogenesis

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4803466

Phakomatosis pigmentovascularis II A and II B: clinical findings in 24 patients

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4803466

Phakomatosis pigmentovascularis type IIIb associated with moyamoya disease

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4803466

The Mongolian spot: a study of ethnic differences and a literature review

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4803466

Activating mutations of the stimulatory G protein in the McCune-Albright syndrome

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4803466

Glaucoma in phakomatosis pigmentovascularis

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4803466

Lethal genes surviving by mosaicism: a possible explanation for sporadic birth defects involving the skin

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4803466

Mongolian spots--a prospective study

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4803466

Choroidal melanoma in phacomatosis pigmentovascularis cesioflammea

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4803466

Fluorescein angiography findings in phacomatosis pigmentovascularis

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4803466

Phacomatosis pigmentokeratotica is caused by a postzygotic HRAS mutation in a multipotent progenitor cell

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4803466

Klippel-Trenaunay and Sturge-Weber overlap syndrome with phakomatosis pigmentovascularis

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4803466

Phakomatosis pigmentovascularis: Implications for severity with special reference to Mongolian spots associated with Sturge-Weber and Klippel-Trenaunay syndromes

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4803466

Phakomatosis pigmentovascularis Ib with left-sided hemihypertrophy, interdigital gaps and scoliosis: a unique case of phakomatosis pigmentovascularis

5 September 2018

1 reference

12 December 2020

Cleft lip mongolian spot: mongolian spot associated with cleft lip

1 reference

12 December 2020

Paradominant inheritance of twin spotting: phacomatosis pigmentovascularis as a further possible example

1 reference

12 December 2020

Phacomatosis pigmentovascularis of cesioflammea type in 7 patients: combination of ocular pigmentation (melanocytosis or melanosis) and nevus flammeus with risk for melanoma

1 reference

12 December 2020

Primary choroidal melanoma in phakomatosis pigmentovascularis IIa

1 reference

12 December 2020

Ocular findings in oculodermal melanocytosis

1 reference

12 December 2020

10.1016/J.JID.2015.11.027

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26778290%20AND%20SRC:MED&resulttype=core&format=json

5 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26778290%20AND%20SRC:MED&resulttype=core&format=json

5 March 2020

PubMed publication ID

26778290

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26778290%20AND%20SRC:MED&resulttype=core&format=json