Literature DB >> 14518070

Proteus syndrome: misdiagnosis with PTEN mutations.

M Michael Cohen, Joyce T Turner, Leslie G Biesecker.   

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Year:  2003        PMID： 14518070     DOI： 10.1002/ajmg.a.20474

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


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  12 in total

1.  PTEN hamartoma of soft tissue: a distinctive lesion in PTEN syndromes.

Authors:  Kyle C Kurek; Emily Howard; L B Tennant; Joseph Upton; Ahmad I Alomari; Patricia E Burrows; Kim Chalache; David J Harris; Cameron C Trenor; Charis Eng; Steven J Fishman; John B Mulliken; Antonio R Perez-Atayde; Harry P W Kozakewich
Journal:  Am J Surg Pathol       Date:  2012-05       Impact factor: 6.394

2.  Assessment of PTEN-associated vascular malformations in a patient with Bannayan-Riley-Ruvalcaba syndrome.

Authors:  Sandra Anusic; Robert Karl Josef Clemens; Thomas Oleg Meier; Beatrice Ruth Amann-Vesti
Journal:  BMJ Case Rep       Date:  2016-06-29

Review 3.  Diverse mechanisms of AKT pathway activation in human malignancy.

Authors:  Mitchell Cheung; Joseph R Testa
Journal:  Curr Cancer Drug Targets       Date:  2013-03       Impact factor: 3.428

4.  Progressive overgrowth of the cerebriform connective tissue nevus in patients with Proteus syndrome.

Authors:  Thomas M Beachkofsky; Julie C Sapp; Leslie G Biesecker; Thomas N Darling
Journal:  J Am Acad Dermatol       Date:  2010-08-14       Impact factor: 11.527

5.  Germline PTEN mutations are rare and highly penetrant.

Authors:  Cecilie F Rustad; Merete Bjørnslett; Ketil R Heimdal; Lovise Mæhle; Jaran Apold; Pål Møller
Journal:  Hered Cancer Clin Pract       Date:  2006-12-15       Impact factor: 2.857

Review 6.  PTEN hamartoma tumor syndromes.

Authors:  Gideon M Blumenthal; Phillip A Dennis
Journal:  Eur J Hum Genet       Date:  2008-09-10       Impact factor: 4.246

7.  Missense mutation in the PTEN promoter of a patient with hemifacial hyperplasia.

Authors:  Kiyomi Yamazaki; Charis Eng; Sergei A Kuznetsov; John Reinisch; Dennis-Duke Yamashita; John Walker; Craig Cheung; Pamela G Robey; Stephen L-K Yen
Journal:  Bonekey Rep       Date:  2015-07-29

Review 8.  Cowden syndrome: a critical review of the clinical literature.

Authors:  Robert Pilarski
Journal:  J Genet Couns       Date:  2008-10-30       Impact factor: 2.537

9.  Proteus syndrome: a case report and a case study review in China.

Authors:  Xi-Bao Zhang; Chang-Xing Li; Yu-Qing He; San-Quan Zhang; Yan-Xia Cai
Journal:  Dermatol Reports       Date:  2010-02-10

10.  Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing.

Authors:  Paul Kuentz; Judith St-Onge; Yannis Duffourd; Jean-Benoît Courcet; Virginie Carmignac; Thibaud Jouan; Arthur Sorlin; Claire Abasq-Thomas; Juliette Albuisson; Jeanne Amiel; Daniel Amram; Stéphanie Arpin; Tania Attie-Bitach; Nadia Bahi-Buisson; Sébastien Barbarot; Geneviève Baujat; Didier Bessis; Olivia Boccara; Maryse Bonnière; Odile Boute; Anne-Claire Bursztejn; Christine Chiaverini; Valérie Cormier-Daire; Christine Coubes; Bruno Delobel; Patrick Edery; Salima El Chehadeh; Christine Francannet; David Geneviève; Alice Goldenberg; Damien Haye; Bertrand Isidor; Marie-Line Jacquemont; Philippe Khau Van Kien; Didier Lacombe; Ludovic Martin; Jelena Martinovic; Annabel Maruani; Michèle Mathieu-Dramard; Juliette Mazereeuw-Hautier; Caroline Michot; Cyril Mignot; Juliette Miquel; Fanny Morice-Picard; Florence Petit; Alice Phan; Massimiliano Rossi; Renaud Touraine; Alain Verloes; Marie Vincent; Catherine Vincent-Delorme; Sandra Whalen; Marjolaine Willems; Nathalie Marle; Daphné Lehalle; Julien Thevenon; Christel Thauvin-Robinet; Smaïl Hadj-Rabia; Laurence Faivre; Pierre Vabres; Jean-Baptiste Rivière
Journal:  Genet Med       Date:  2017-02-02       Impact factor: 8.822
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