Literature DB >> 17388921

Type 2 segmental Cowden disease vs. Proteus syndrome.

R Happle.   

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Year:  2007        PMID： 17388921     DOI： 10.1111/j.1365-2133.2007.07818.x

Source DB:  PubMed          Journal:  Br J Dermatol        ISSN： 0007-0963            Impact factor:   9.302


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  10 in total

Review 1.  Developmental disease and cancer: biological and clinical overlaps.

Authors:  Alfonso Bellacosa
Journal:  Am J Med Genet A       Date:  2013-10-07       Impact factor: 2.802

Review 2.  Mosaic Disorders of the PI3K/PTEN/AKT/TSC/mTORC1 Signaling Pathway.

Authors:  Neera Nathan; Kim M Keppler-Noreuil; Leslie G Biesecker; Joel Moss; Thomas N Darling
Journal:  Dermatol Clin       Date:  2017-01       Impact factor: 3.478

3.  Assessment and management of the orthopedic and other complications of Proteus syndrome.

Authors:  Laura L Tosi; Julie C Sapp; Elizabeth S Allen; Regis J O'Keefe; Leslie G Biesecker
Journal:  J Child Orthop       Date:  2011-05-28       Impact factor: 1.548

4.  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

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

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

Review 7.  [How frequently does genetic mosaicism occur in the skin?].

Authors:  R Happle
Journal:  Hautarzt       Date:  2014-06       Impact factor: 0.751

8.  Mosaic overgrowth with fibroadipose hyperplasia is caused by somatic activating mutations in PIK3CA.

Authors:  Marjorie J Lindhurst; Victoria E R Parker; Felicity Payne; Julie C Sapp; Simon Rudge; Julie Harris; Alison M Witkowski; Qifeng Zhang; Matthijs P Groeneveld; Carol E Scott; Allan Daly; Susan M Huson; Laura L Tosi; Michael L Cunningham; Thomas N Darling; Joseph Geer; Zoran Gucev; V Reid Sutton; Christos Tziotzios; Adrian K Dixon; Timothy Helliwell; Stephen O'Rahilly; David B Savage; Michael J O Wakelam; Inês Barroso; Leslie G Biesecker; Robert K Semple
Journal:  Nat Genet       Date:  2012-06-24       Impact factor: 38.330

9.  A case of linear porokeratosis superimposed on disseminated superficial actinic porokeratosis.

Authors:  Rebecca Löhrer; Aysegül Neumann-Acikel; Rüdiger Eming; Karin Hartmann; Heinrich Rasokat; Thomas Krieg; Rudolf Happle; Sabine Eming
Journal:  Case Rep Dermatol       Date:  2010-08-06

Review 10.  A six-attribute classification of genetic mosaicism.

Authors:  Luis A Pérez-Jurado; Víctor L Ruiz Pérez; Antonio Torrelo; Nancy B Spinner; Rudolf Happle; Leslie G Biesecker; Pablo Lapunzina; Víctor Martínez-Glez; Jair Tenorio; Julián Nevado; Gema Gordo; Lara Rodríguez-Laguna; Marta Feito; Raúl de Lucas
Journal:  Genet Med       Date:  2020-07-14       Impact factor: 8.864
  10 in total

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