(Q28256964)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25681199%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

title

Lymphatic and other vascular malformative/overgrowth disorders are caused by somatic mutations in PIK3CA (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25681199%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25681199%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Judith Bovée

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25681199%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Ahmad I. Alomari

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25681199%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

James T Bennett

22

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25681199%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

William B. Dobyns

23

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25681199%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Steven A McCarroll

26

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25681199%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

author name string

Valerie L Luks

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25681199%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Matthew P Vivero

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25681199%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Wibke Uller

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25681199%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Rashed Rab

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25681199%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Kristy L Rialon

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25681199%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Carlos J Guevara

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25681199%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Arin K Greene

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25681199%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Steven J Fishman

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25681199%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Harry P W Kozakewich

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25681199%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Reid A Maclellan

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25681199%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

John B Mulliken

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25681199%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Reza Rahbar

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25681199%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Samantha A Spencer

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25681199%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Cameron C Trenor

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25681199%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Joseph Upton

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25681199%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Jonathan A Perkins

20

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25681199%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Andrew Kirsh

21

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25681199%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Kyle C Kurek

24

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25681199%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Matthew L Warman

25

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25681199%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Rudy Murillo

27

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25681199%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

David Zurakowski

19

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25681199%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

language of work or name

English

0 references

publication date

11 February 2015

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25681199%20AND%20SRC:MED&resulttype=core&format=json

The Journal of Pediatrics

29 February 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25681199%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

volume

166

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25681199%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

page(s)

1048-54.e1-5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25681199%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

issue

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25681199%20AND%20SRC:MED&resulttype=core&format=json

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

29 February 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4498659

Mosaic overgrowth with fibroadipose hyperplasia is caused by somatic activating mutations in PIK3CA

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4498659

Somatic mosaic activating mutations in PIK3CA cause CLOVES syndrome

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4498659

High-throughput droplet digital PCR system for absolute quantitation of DNA copy number

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4498659

High frequency of mutations of the PIK3CA gene in human cancers

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4498659

Hermann Friedberg's case report: an early description of CLOVES syndrome

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4498659

COSMIC: exploring the world's knowledge of somatic mutations in human cancer

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4498659

Primer3--new capabilities and interfaces

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4498659

PIK3CA activating mutations in facial infiltrating lipomatosis

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4498659

Single molecule molecular inversion probes for targeted, high-accuracy detection of low-frequency variation

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4498659

Somatic gain-of-function mutations in PIK3CA in patients with macrodactyly

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4498659

De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4498659

Conditional activation of Pik3ca(H1047R) in a knock-in mouse model promotes mammary tumorigenesis and emergence of mutations

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4498659

An activating Pik3ca mutation coupled with Pten loss is sufficient to initiate ovarian tumorigenesis in mice

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4498659

Oncogenic PIK3CA-driven mammary tumors frequently recur via PI3K pathway-dependent and PI3K pathway-independent mechanisms

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4498659

Rapid KRAS, EGFR, BRAF and PIK3CA mutation analysis of fine needle aspirates from non-small-cell lung cancer using allele-specific qPCR.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4498659

Characterization of a distinct syndrome that associates complex truncal overgrowth, vascular, and acral anomalies: a descriptive study of 18 cases of CLOVES syndrome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4498659

Class I PI3K in oncogenic cellular transformation.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4498659

A systematic and quantitative analysis of PCR template contamination

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4498659

Somatic activation of AKT3 causes hemispheric developmental brain malformations

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4498659

Fibro-adipose vascular anomaly: clinical-radiologic-pathologic features of a newly delineated disorder of the extremity.

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4498659

PI3K signalling: the path to discovery and understanding.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4498659

Newly delineated syndrome of congenital lipomatous overgrowth, vascular malformations, and epidermal nevi (CLOVE syndrome) in seven patients.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4498659

Segmental overgrowth, lipomatosis, arteriovenous malformation and epidermal nevus (SOLAMEN) syndrome is related to mosaic PTEN nullizygosity.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4498659

Genuine diffuse phlebectasia of Bockenheimer: dissection of an eponym.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4498659

Beckwith-Wiedemann syndrome

27 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25681199

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Klippel-Trenaunay syndrome

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25681199

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.JPEDS.2014.12.069

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25681199%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

1 reference

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25681199%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

2 references