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Phenotypic heterogeneity in PIK3CA-related overgrowth spectrum.

author

Hassan Vahidnezhad

Leila Youssefian

published in: British Journal of Dermatology

date of publication: 2016-07-27

language: English

main subject: phenotypic heterogeneity

Cites articles 14

Date

Title

Authors

2016-01-01

Molecular Genetics of the PI3K-AKT-mTOR Pathway in Genodermatoses: Diagnostic Implications and Treatment Opportunities

Jouni Uitto
2015-01-23

Fibroadipose hyperplasia versus Proteus syndrome: segmental overgrowth with a mosaic mutation in the PIK3CA gene

Leila Youssefian, Hassan Vahidnezhad
2015-02-11

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

Nolan Kamitaki, Judith VMG Bovée, Ahmad I. Alomari, James T Bennett, William B. Dobyns, Steven A McCarroll
2015-02

PIK3CA-related overgrowth spectrum (PROS): diagnostic and testing eligibility criteria, differential diagnosis, and evaluation

Ahmad I. Alomari, William B. Dobyns, Leslie G Biesecker, Kim M Keppler-Noreuil
2015-10-13

Klippel-Trenaunay syndrome belongs to the PIK3CA-related overgrowth spectrum (PROS)

Hassan Vahidnezhad, Leila Youssefian
2014-11-06

The somatic GNAQ mutation c.548G>A (p.R183Q) is consistently found in Sturge-Weber syndrome.

Yasushi Iimura, Yoshinori Tsurusaki, Hirotomo Saitsu, Mitsuhiro Kato
2012-01-06

Megalencephaly-capillary malformation (MCAP) and megalencephaly-polydactyly-polymicrogyria-hydrocephalus (MPPH) syndromes: two closely related disorders of brain overgrowth and abnormal brain and body morphogenesis.

William B. Dobyns, Tally Lerman-Sagie, Dorit Lev, Karen Gripp
2012-06-08

Somatic mosaic activating mutations in PIK3CA cause CLOVES syndrome

Margot Bowen, Ahmad I. Alomari, Ryan Neff
2012-08

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

Jay Shendure, Tally Lerman-Sagie, Mark O'Driscoll, Brian J O'Roak, Linlea Armstrong, Jeremy Schwartzentruber, William B. Dobyns, Kym M Boycott, Jacek Majewski, Oana Caluseriu, Wendy S Meschino, Chandree L Beaulieu, Dennis E Bulman, A. Micheil Innes, Karen Gripp
2011-08-18

A mosaic activating mutation in AKT1 associated with the Proteus syndrome

Roberto Tirabosco, Thomas N. Darling, Leslie G Biesecker, Kim M Keppler-Noreuil, James C Mullikin
2010-11-08

Protein structure analysis of mutations causing inheritable diseases. An e-Science approach with life scientist friendly interfaces

Gert Vriend, Hanka Venselaar
2007-12-01

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

Leslie G Biesecker
2007-03-28

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

Pierre Vabres
2003-12

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

Miikka Vikkula

Article - wd:Q54203091

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