Literature DB >> 11476065

PTEN mutations are uncommon in Proteus syndrome.

K Barker, A Martinez, R Wang, S Bevan, V Murday, J Shipley, R Houlston, J Harper.   

Abstract

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Year:  2001        PMID： 11476065      PMCID： PMC1757185          DOI： 10.1136/jmg.38.7.480

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  11 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.  Hemihyperplasia syndromes.

Authors:  Ashwin B Dalal; Shubha R Phadke; Mandakini Pradhan; Sheetal Sharda
Journal:  Indian J Pediatr       Date:  2006-07       Impact factor: 1.967

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.  Protean PTEN: form and function.

Authors:  Kristin A Waite; Charis Eng
Journal:  Am J Hum Genet       Date:  2002-03-01       Impact factor: 11.025

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

Authors:  Zoran S Gucev; Velibor Tasic; Aleksandra Jancevska; Marina Krstevska Konstantinova; Nada Pop-Jordanova; Zoran Trajkovski; Leslie G Biesecker
Journal:  Am J Med Genet A       Date:  2008-10-15       Impact factor: 2.802

6.  Proteus syndrome revealing itself after the treatment of a bilateral subdural haematoma.

Authors:  Yassine El Hassani; Benoit Jenny; Brigitte Pittet-Cuenod; Armand Bottani; Paolo Scolozzi; Hulya Ozsahin Ayse; Benédict Rilliet
Journal:  Childs Nerv Syst       Date:  2013-04-05       Impact factor: 1.475

7.  Cowden syndrome and Bannayan Riley Ruvalcaba syndrome represent one condition with variable expression and age-related penetrance: results of a clinical study of PTEN mutation carriers.

Authors:  K L Lachlan; A M Lucassen; D Bunyan; I K Temple
Journal:  J Med Genet       Date:  2007-05-25       Impact factor: 6.318

8.  Deciphering associations for lung cancer risk through imputation and analysis of 12,316 cases and 16,831 controls.

Authors:  Yufei Wang; Yongyue Wei; Valerie Gaborieau; Jianxin Shi; Younghun Han; Maria N Timofeeva; Li Su; Yafang Li; Timothy Eisen; Christopher I Amos; Maria Teresa Landi; David C Christiani; James D McKay; Richard S Houlston
Journal:  Eur J Hum Genet       Date:  2015-03-25       Impact factor: 4.246

9.  Proteus syndrome: Clinical diagnosis of a series of cases.

Authors:  Cresio Alves; Angelina X Acosta; Maria Betânia P Toralles
Journal:  Indian J Endocrinol Metab       Date:  2013-11

10.  Muscle hemangiomatosis presenting as a severe feature in a patient with the pten mutation: expanding the phenotype of vascular malformations in bannayan-riley-ruvalcaba syndrome.

Authors:  Y Soysal; T Acun; Cm Lourenço; W Marques; Mc Yakıcıer
Journal:  Balkan J Med Genet       Date:  2012-06       Impact factor: 0.519
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