(Q52135239)

22 April 2018

review article

1 reference

title

Nephroblastomatosis or Wilms tumor in a fourth patient with a somatic PIK3CA mutation. (English)

1 reference

22 April 2018

author

Kim M Keppler-Noreuil

14

object named as

Kim M Keppler-Noreuil

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22 April 2018

1

Karen W Gripp

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22 April 2018

author name string

Laura Baker

2

1 reference

22 April 2018

Vinay Kandula

3

1 reference

22 April 2018

Katrina Conard

4

1 reference

22 April 2018

Mena Scavina

5

1 reference

22 April 2018

Joseph A Napoli

6

1 reference

22 April 2018

Gregory C Griffin

7

1 reference

22 April 2018

Mihir Thacker

8

1 reference

22 April 2018

Rachel G Knox

9

1 reference

22 April 2018

Graeme R Clark

10

1 reference

22 April 2018

Victoria E R Parker

11

1 reference

22 April 2018

Robert Semple

12

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22 April 2018

Ghayda Mirzaa

13

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22 April 2018

language of work or name

English

0 references

publication date

18 May 2016

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22 April 2018

American Journal of Medical Genetics

published in

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22 April 2018

volume

170

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22 April 2018

issue

10

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22 April 2018

page(s)

2559-2569

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22 April 2018

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

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5514817

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5514817

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

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5514817

PIK3CA-Related Segmental Overgrowth

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5514817

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

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5514817

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

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5514817

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

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5514817

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

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5514817

Somatic mosaic activating mutations in PIK3CA cause CLOVES syndrome

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5514817

Somatic activation of AKT3 causes hemispheric developmental brain malformations

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5514817

Oncogenic mutations of PIK3CA in human cancers

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5514817

Diagnostic criteria and tumor screening for individuals with isolated hemihyperplasia

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5514817

The misnomer "macrocephaly-cutis marmorata telangiectatica congenita syndrome": report of 12 new cases and support for revising the name to macrocephaly-capillary malformations.

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5514817

Surveillance for Wilms tumour in at-risk children: pragmatic recommendations for best practice

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5514817

Syndromes and constitutional chromosomal abnormalities associated with Wilms tumour

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5514817

Risk of tumorigenesis in overgrowth syndromes: A comprehensive review

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5514817

Functional analysis of PIK3CA gene mutations in human colorectal cancer

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5514817

Phosphatidylinositol 3-kinase mutations identified in human cancer are oncogenic

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5514817

High frequency of mutations of the PIK3CA gene in human cancers

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5514817

Screening for Wilms tumor in children with Beckwith-Wiedemann syndrome or idiopathic hemihypertrophy

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5514817

Isolated hemihyperplasia (hemihypertrophy): report of a prospective multicenter study of the incidence of neoplasia and review

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5514817

Bilateral Wilms's tumour in Klippel-Trenaunay syndrome

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5514817

Activating PIK3CA somatic mutation in congenital unilateral isolated muscle overgrowth of the upper extremity.

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5514817

Somatic mosaicism for the p.His1047Arg mutation in PIK3CA in a girl with mesenteric lipomatosis.

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5514817

Clinical delineation and natural history of the PIK3CA-related overgrowth spectrum.

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5514817

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

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5514817

Macrocephaly-cutis marmorata telangiectatica congenita: report of six new patients and a review.

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5514817

Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi (CLOVE) syndrome: CNS malformations and seizures may be a component of this disorder

13 August 2018

1 reference

Crossref

https://api.crossref.org/works/10.1002%2FAJMG.A.37758

Nephrogenic rests, nephroblastomatosis, and associated lesions of the kidney

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1002%2FAJMG.A.37758

CLOVE(S) syndrome: expanding the acronym

21 January 2018

1 reference

12 December 2020

Wilms tumor screening is unnecessary in Klippel-Trenaunay syndrome

1 reference

12 December 2020

Bilateral nephroblastomatosis and Klippel Trenaunay syndrome

1 reference

12 December 2020

Children at increased risk for Wilms tumor: monitoring issues

1 reference

12 December 2020

Segmental overgrowth syndrome due to an activating PIK3CA mutation identified in affected muscle tissue by exome sequencing

1 reference

12 December 2020

Identifiers

DOI

10.1002/AJMG.A.37758

1 reference

22 April 2018

PMC publication ID

5514817

1 reference

22 April 2018

PubMed publication ID

27191687

1 reference

22 April 2018