Literature DB >> 17804857

Familial gastrointestinal stromal tumors and germ-line mutations.

Sarah R McWhinney, Barbara Pasini, Constantine A Stratakis.   

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Year:  2007        PMID： 17804857     DOI： 10.1056/NEJMc071191

Source DB:  PubMed          Journal:  N Engl J Med        ISSN： 0028-4793            Impact factor:   91.245


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  62 in total

1.  A novel germline SDHB mutation in a gastrointestinal stromal tumor patient without bona fide features of the Carney-Stratakis dyad.

Authors:  Ricardo Celestino; Jorge Lima; Alexandra Faustino; Valdemar Máximo; António Gouveia; João Vinagre; Paula Soares; José Manuel Lopes
Journal:  Fam Cancer       Date:  2012-06       Impact factor: 2.375

2.  Stromal, fibrous, and fatty gastrointestinal tumors in a patient with a PDGFRA gene mutation.

Authors:  J Aidan Carney; Constantine A Stratakis
Journal:  Am J Surg Pathol       Date:  2008-09       Impact factor: 6.394

Review 3.  GISTogram: a graphic presentation of the growing GIST complexity.

Authors:  Riccardo Ricci; Angelo Paolo Dei Tos; Guido Rindi
Journal:  Virchows Arch       Date:  2013-08-23       Impact factor: 4.064

4.  Aberrant DNA hypermethylation of SDHC: a novel mechanism of tumor development in Carney triad.

Authors:  Florian Haller; Evgeny A Moskalev; Fabio R Faucz; Sarah Barthelmeß; Stefan Wiemann; Matthias Bieg; Guillaume Assie; Jerome Bertherat; Inga-Marie Schaefer; Claudia Otto; Eleanor Rattenberry; Eamonn R Maher; Philipp Ströbel; Martin Werner; J Aidan Carney; Arndt Hartmann; Constantine A Stratakis; Abbas Agaimy
Journal:  Endocr Relat Cancer       Date:  2014-05-23       Impact factor: 5.678

5.  Increased risk of additional cancers among patients with gastrointestinal stromal tumors: A population-based study.

Authors:  James D Murphy; Grace L Ma; Joel M Baumgartner; Lisa Madlensky; Adam M Burgoyne; Chih-Min Tang; Maria Elena Martinez; Jason K Sicklick
Journal:  Cancer       Date:  2015-04-30       Impact factor: 6.860

6.  Carney triad can be (rarely) associated with germline succinate dehydrogenase defects.

Authors:  Sosipatros A Boikos; Paraskevi Xekouki; Elena Fumagalli; Fabio R Faucz; Margarita Raygada; Eva Szarek; Evan Ball; Su Young Kim; Markku Miettinen; Lee J Helman; J Aidan Carney; Karel Pacak; Constantine A Stratakis
Journal:  Eur J Hum Genet       Date:  2015-07-15       Impact factor: 4.246

Review 7.  The genetic landscape of gastrointestinal stromal tumor lacking KIT and PDGFRA mutations.

Authors:  Sosipatros A Boikos; Constantine A Stratakis
Journal:  Endocrine       Date:  2014-07-16       Impact factor: 3.633

Review 8.  The 3PAs: An Update on the Association of Pheochromocytomas, Paragangliomas, and Pituitary Tumors.

Authors:  Paraskevi Xekouki; Ana Brennand; Ben Whitelaw; Karel Pacak; Constantine A Stratakis
Journal:  Horm Metab Res       Date:  2018-10-01       Impact factor: 2.936

9.  Gastrointestinal stromal tumors (GISTs): SEAP-SEOM consensus on pathologic and molecular diagnosis.

Authors:  J Martin-Broto; V Martinez-Marín; C Serrano; N Hindi; J A López-Guerrero; R Ramos-Asensio; A Vallejo-Benítez; D Marcilla-Plaza; R González-Cámpora
Journal:  Clin Transl Oncol       Date:  2016-12-09       Impact factor: 3.405

10.  Analysis of all subunits, SDHA, SDHB, SDHC, SDHD, of the succinate dehydrogenase complex in KIT/PDGFRA wild-type GIST.

Authors:  Maria A Pantaleo; Annalisa Astolfi; Milena Urbini; Margherita Nannini; Paola Paterini; Valentina Indio; Maristella Saponara; Serena Formica; Claudio Ceccarelli; Rita Casadio; Giulio Rossi; Federica Bertolini; Donatella Santini; Maria G Pirini; Michelangelo Fiorentino; Umberto Basso; Guido Biasco
Journal:  Eur J Hum Genet       Date:  2013-04-24       Impact factor: 4.246
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