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Literature DB >> 11755638

PTEN mutations and proteus syndrome.

L G Biesecker, M J Rosenberg, S Vacha, J T Turner, M M Cohen.

Abstract

Entities: Disease Gene

Mesh：

Substances：

Year: 2001 PMID： 11755638 DOI： 10.1016/S0140-6736(01)07109-4

Source DB: PubMed Journal: Lancet ISSN： 0140-6736 Impact factor: 79.321

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Cited

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10 in total

1. Detection of clinically relevant exonic copy-number changes by array CGH.

Authors: Philip M Boone; Carlos A Bacino; Chad A Shaw; Patricia A Eng; Patricia M Hixson; Amber N Pursley; Sung-Hae L Kang; Yaping Yang; Joanna Wiszniewska; Beata A Nowakowska; Daniela del Gaudio; Zhilian Xia; Gayle Simpson-Patel; LaDonna L Immken; James B Gibson; Anne C-H Tsai; Jennifer A Bowers; Tyler E Reimschisel; Christian P Schaaf; Lorraine Potocki; Fernando Scaglia; Tomasz Gambin; Maciej Sykulski; Magdalena Bartnik; Katarzyna Derwinska; Barbara Wisniowiecka-Kowalnik; Seema R Lalani; Frank J Probst; Weimin Bi; Arthur L Beaudet; Ankita Patel; James R Lupski; Sau Wai Cheung; Pawel Stankiewicz
Journal: Hum Mutat Date: 2010-11-02 Impact factor: 4.878

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

3. A mosaic activating mutation in AKT1 associated with the Proteus syndrome.

Authors: Marjorie J Lindhurst; Julie C Sapp; Jamie K Teer; Jennifer J Johnston; Erin M Finn; Kathryn Peters; Joyce Turner; Jennifer L Cannons; David Bick; Laurel Blakemore; Catherine Blumhorst; Knut Brockmann; Peter Calder; Natasha Cherman; Matthew A Deardorff; David B Everman; Gretchen Golas; Robert M Greenstein; B Maya Kato; Kim M Keppler-Noreuil; Sergei A Kuznetsov; Richard T Miyamoto; Kurt Newman; David Ng; Kevin O'Brien; Steven Rothenberg; Douglas J Schwartzentruber; Virender Singhal; Roberto Tirabosco; Joseph Upton; Shlomo Wientroub; Elaine H Zackai; Kimberly Hoag; Tracey Whitewood-Neal; Pamela G Robey; Pamela L Schwartzberg; Thomas N Darling; Laura L Tosi; James C Mullikin; Leslie G Biesecker
Journal: N Engl J Med Date: 2011-07-27 Impact factor: 91.245

Review 4. The complexes of mammalian target of rapamycin.

Authors: Hongyu Zhou; Shile Huang
Journal: Curr Protein Pept Sci Date: 2010-09 Impact factor: 3.272

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

PTEN mutations and proteus syndrome.

1. Detection of clinically relevant exonic copy-number changes by array CGH.

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

3. A mosaic activating mutation in AKT1 associated with the Proteus syndrome.

Review 4. The complexes of mammalian target of rapamycin.

5. Germline PTEN mutations are rare and highly penetrant.

Review 6. PTEN hamartoma tumor syndromes.

Review 7. Overgrowth syndromes - clinical and molecular aspects and tumour risk.

8. De Novo PTEN Mutation in a Young Boy with Cutaneous Vasculitis.

9. Proteus syndrome: report of intra-abdominal lipomatosis.

10. Distinguishing between PTEN clinical phenotypes through mutation analysis.