(Q52101509)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28328134%20AND%20SRC:MED&resulttype=core&format=json

13 March 2020

title

Somatic PIK3CA mutations in seven patients with PIK3CA-related overgrowth spectrum (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28328134%20AND%20SRC:MED&resulttype=core&format=json

13 March 2020

5

1 reference

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13 March 2020

Godfrey Chi Fung Chan

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28328134%20AND%20SRC:MED&resulttype=core&format=json

13 March 2020

author name string

Kit San Yeung

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28328134%20AND%20SRC:MED&resulttype=core&format=json

13 March 2020

Janice Jing Kun Ip

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28328134%20AND%20SRC:MED&resulttype=core&format=json

13 March 2020

Chin Pang Chow

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28328134%20AND%20SRC:MED&resulttype=core&format=json

13 March 2020

Evelyn Yue Ling Kuong

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28328134%20AND%20SRC:MED&resulttype=core&format=json

13 March 2020

Brian Hon-Yin Chung

7

1 reference

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13 March 2020

language of work or name

English

0 references

publication date

1 April 2017

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28328134%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Medical Genetics

13 March 2020

published in

1 reference

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13 March 2020

volume

173

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28328134%20AND%20SRC:MED&resulttype=core&format=json

13 March 2020

issue

4

1 reference

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13 March 2020

page(s)

978-984

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28328134%20AND%20SRC:MED&resulttype=core&format=json

13 March 2020

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.38105

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.38105

Somatic activating mutations in Pik3ca cause sporadic venous malformations in mice and humans

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.38105

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.38105

Prenatal diagnosis of CLOVES syndrome confirmed by detection of a mosaic PIK3CA mutation in cultured amniocytes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.38105

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.38105

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.38105

Utility of clinical high-depth next generation sequencing for somatic variant detection in the PIK3CA-related overgrowth spectrum.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.38105

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.38105

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.38105

Somatic mosaic activating mutations in PIK3CA cause CLOVES syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.38105

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.38105

Somatic Activating PIK3CA Mutations Cause Venous Malformation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.38105

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.38105

Molecular and Functional Characterization of Three Different Postzygotic Mutations in PIK3CA-Related Overgrowth Spectrum (PROS) Patients: Effects on PI3K/AKT/mTOR Signaling and Sensitivity to PIK3 Inhibitors.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.38105

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.38105

PIK3CA activating mutations in facial infiltrating lipomatosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.38105

PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.38105

Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.38105

De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.38105

Activating PIK3CA alleles and lymphangiogenic phenotype of lymphatic endothelial cells isolated from lymphatic malformations

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.38105

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.38105

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.38105

Somatic mosaicism of the PIK3CA gene identified in a Hungarian girl with macrodactyly and syndactyly.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.38105

21 January 2018

Identifiers

DOI

10.1002/AJMG.A.38105

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28328134%20AND%20SRC:MED&resulttype=core&format=json

13 March 2020

1 reference