Literature DB >> 7773282

The question of heterogeneity in Marfan syndrome.

H Dietz, U Francke, H Furthmayr, C Francomano, A De Paepe, R Devereux, F Ramirez, R Pyeritz.   

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Year:  1995        PMID： 7773282     DOI： 10.1038/ng0395-228

Source DB:  PubMed          Journal:  Nat Genet        ISSN： 1061-4036            Impact factor:   38.330


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  11 in total

Review 1.  Genetic testing in aortic aneurysm disease: PRO.

Authors:  Dianna M Milewicz; Alicia A Carlson; Ellen S Regalado
Journal:  Cardiol Clin       Date:  2010-05       Impact factor: 2.213

Review 2.  The molecular genetics of Marfan syndrome and related microfibrillopathies.

Authors:  P N Robinson; M Godfrey
Journal:  J Med Genet       Date:  2000-01       Impact factor: 6.318

Review 3.  Marfan syndrome. Part 1: pathophysiology and diagnosis.

Authors:  Victoria Cañadas; Isidre Vilacosta; Isidoro Bruna; Valentin Fuster
Journal:  Nat Rev Cardiol       Date:  2010-03-30       Impact factor: 32.419

4.  Identifying the right stop: determining how the surveillance complex recognizes and degrades an aberrant mRNA.

Authors:  M J Ruiz-Echevarría; C I González; S W Peltz
Journal:  EMBO J       Date:  1998-01-15       Impact factor: 11.598

Review 5.  Recent progress in genetics of Marfan syndrome and Marfan-associated disorders.

Authors:  Takeshi Mizuguchi; Naomichi Matsumoto
Journal:  J Hum Genet       Date:  2006-10-24       Impact factor: 3.172

6.  Severe aortic and arterial aneurysms associated with a TGFBR2 mutation.

Authors:  Scott A LeMaire; Hariyadarshi Pannu; Van Tran-Fadulu; Stacey A Carter; Joseph S Coselli; Dianna M Milewicz
Journal:  Nat Clin Pract Cardiovasc Med       Date:  2007-03

7.  Evidence for a critical contribution of haploinsufficiency in the complex pathogenesis of Marfan syndrome.

Authors:  Daniel P Judge; Nancy J Biery; Douglas R Keene; Jessica Geubtner; Loretha Myers; David L Huso; Lynn Y Sakai; Harry C Dietz
Journal:  J Clin Invest       Date:  2004-07       Impact factor: 14.808

Review 8.  Transforming growth factor-beta signaling in thoracic aortic aneurysm development: a paradox in pathogenesis.

Authors:  Jeffrey A Jones; Francis G Spinale; John S Ikonomidis
Journal:  J Vasc Res       Date:  2008-09-02       Impact factor: 1.934

9.  Fifteen novel FBN1 mutations causing Marfan syndrome detected by heteroduplex analysis of genomic amplicons.

Authors:  G Nijbroek; S Sood; I McIntosh; C A Francomano; E Bull; L Pereira; F Ramirez; R E Pyeritz; H C Dietz
Journal:  Am J Hum Genet       Date:  1995-07       Impact factor: 11.025

10.  Newly developed aortic dissection after aorta cannulation during mitral valve surgery in a patient with marfan syndrome.

Authors:  Jeonggeun Moon; Mi-Seung Shin; Hun Jin Lee; Wook-Jin Chung; Chul-Hyun Park; Kook-Yang Park
Journal:  Korean Circ J       Date:  2012-06-28       Impact factor: 3.243
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