Literature DB >> 15342702

An Alu-mediated partial SDHC deletion causes familial and sporadic paraganglioma.

B E Baysal, J E Willett-Brozick, P A A Filho, E C Lawrence, E N Myers, R E Ferrell.   

Abstract

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Year:  2004        PMID： 15342702      PMCID： PMC1735880          DOI： 10.1136/jmg.2004.019224

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


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  19 in total

1.  Clinical features of paraganglioma syndromes.

Authors:  Carsten Christof Boedeker; Hartmut P H Neumann; Christian Offergeld; Wolfgang Maier; Maurizio Falcioni; Ansgar Berlis; Joerg Schipper
Journal:  Skull Base       Date:  2009-01

2.  The clinical phenotype of SDHC-associated hereditary paraganglioma syndrome (PGL3).

Authors:  Tobias Else; Monica L Marvin; Jessica N Everett; Stephen B Gruber; H Alexander Arts; Elena M Stoffel; Richard J Auchus; Victoria M Raymond
Journal:  J Clin Endocrinol Metab       Date:  2014-04-23       Impact factor: 5.958

Review 3.  Physiological consequences of complex II inhibition for aging, disease, and the mKATP channel.

Authors:  Andrew P Wojtovich; C Owen Smith; Cole M Haynes; Keith W Nehrke; Paul S Brookes
Journal:  Biochim Biophys Acta       Date:  2013-01-02

Review 4.  Intersections between mitochondrial sirtuin signaling and tumor cell metabolism.

Authors:  Karina N Gonzalez Herrera; Jaewon Lee; Marcia C Haigis
Journal:  Crit Rev Biochem Mol Biol       Date:  2015-04-21       Impact factor: 8.250

Review 5.  SDHC mutations in hereditary paraganglioma/pheochromocytoma.

Authors:  Ulrich Müller; Christian Troidl; Stephan Niemann
Journal:  Fam Cancer       Date:  2005       Impact factor: 2.375

6.  A systematic review on the genetic analysis of paragangliomas: primarily focused on head and neck paragangliomas.

Authors:  A Guha; Z Musil; A Vicha; T Zelinka; K Pacak; J Astl; M Chovanec
Journal:  Neoplasma       Date:  2019-06-29       Impact factor: 2.575

7.  Recurrent epimutation of SDHC in gastrointestinal stromal tumors.

Authors:  J Keith Killian; Markku Miettinen; Robert L Walker; Yonghong Wang; Yuelin Jack Zhu; Joshua J Waterfall; Natalia Noyes; Parvathy Retnakumar; Zhiming Yang; William I Smith; M Scott Killian; C Christopher Lau; Marbin Pineda; Jennifer Walling; Holly Stevenson; Carly Smith; Zengfeng Wang; Jerzy Lasota; Su Young Kim; Sosipatros A Boikos; Lee J Helman; Paul S Meltzer
Journal:  Sci Transl Med       Date:  2014-12-24       Impact factor: 17.956

8.  Copy number variations and cancer.

Authors:  Adam Shlien; David Malkin
Journal:  Genome Med       Date:  2009-06-16       Impact factor: 11.117

9.  Novel SLC7A7 large rearrangements in lysinuric protein intolerance patients involving the same AluY repeat.

Authors:  Mariona Font-Llitjós; Benjamín Rodríguez-Santiago; Meritxell Espino; Ruth Sillué; Sandra Mañas; Laia Gómez; Luis A Pérez-Jurado; Manuel Palacín; Virginia Nunes
Journal:  Eur J Hum Genet       Date:  2008-08-20       Impact factor: 4.246

10.  The first Dutch SDHB founder deletion in paraganglioma-pheochromocytoma patients.

Authors:  Jean-Pierre Bayley; Anneliese E M Grimbergen; Patrick A van Bunderen; Michiel van der Wielen; Henricus P Kunst; Jacques W Lenders; Jeroen C Jansen; Robin P F Dullaart; Peter Devilee; Eleonora P Corssmit; Annette H Vriends; Monique Losekoot; Marjan M Weiss
Journal:  BMC Med Genet       Date:  2009-04-15       Impact factor: 2.103
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