Literature DB >> 12471211

Germline mutation of the tumour suppressor PTEN in Proteus syndrome.

J M Smith, E P E Kirk, G Theodosopoulos, G M Marshall, J Walker, M Rogers, M Field, J J Brereton, D J Marsh.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2002        PMID： 12471211      PMCID： PMC1757209          DOI： 10.1136/jmg.39.12.937

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


× No keyword cloud information.
  24 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.  Diffuse Infiltrative Gastrointestinal Lipomatosis in a Guinea Pig (Cavia porcellus).

Authors:  Jennifer A Beninson; Jill M Keller; Mark J Hoenerhoff
Journal:  Comp Med       Date:  2015-10       Impact factor: 0.982

Review 4.  Biomedicine and diseases: the Klippel-Trenaunay syndrome, vascular anomalies and vascular morphogenesis.

Authors:  A A Timur; D J Driscoll; Q Wang
Journal:  Cell Mol Life Sci       Date:  2005-07       Impact factor: 9.261

5.  Germline PTEN promoter mutations and deletions in Cowden/Bannayan-Riley-Ruvalcaba syndrome result in aberrant PTEN protein and dysregulation of the phosphoinositol-3-kinase/Akt pathway.

Authors:  Xiao-Ping Zhou; Kristin A Waite; Robert Pilarski; Heather Hampel; Magali J Fernandez; Cindy Bos; Majed Dasouki; Gerald L Feldman; Lois A Greenberg; Jennifer Ivanovich; Ellen Matloff; Annette Patterson; Mary Ella Pierpont; Donna Russo; Najah T Nassif; Charis Eng
Journal:  Am J Hum Genet       Date:  2003-07-03       Impact factor: 11.025

6.  Germline PIK3CA and AKT1 mutations in Cowden and Cowden-like syndromes.

Authors:  Mohammed S Orloff; Xin He; Charissa Peterson; Fusong Chen; Jin-Lian Chen; Jessica L Mester; Charis Eng
Journal:  Am J Hum Genet       Date:  2012-12-13       Impact factor: 11.025

7.  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 8.  PTEN hamartoma tumor syndromes.

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

9.  Germline inactivation of PTEN and dysregulation of the phosphoinositol-3-kinase/Akt pathway cause human Lhermitte-Duclos disease in adults.

Authors:  Xiao-Ping Zhou; Deborah J Marsh; Carl D Morrison; Abhik R Chaudhury; Marius Maxwell; Guido Reifenberger; Charis Eng
Journal:  Am J Hum Genet       Date:  2003-10-17       Impact factor: 11.025

10.  Proteus syndrome with syringohydromyelia and arachnoid cyst.

Authors:  Yonca Anik; Ihsan Anik; Erdem Gonullu; Nagihan Inan; Ali Demirci
Journal:  Childs Nerv Syst       Date:  2007-06-26       Impact factor: 1.475
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.