Literature DB >> 22477598

Letter to the editor.

Gavin Arno1, Paolo Comeglio, Anne H Child.   

Abstract

Year:  2010        PMID： 22477598      PMCID： PMC3005407          DOI： 10.1055/s-0031-1278369

Source DB:  PubMed          Journal:  Int J Angiol        ISSN： 1061-1711


× No keyword cloud information.
  5 in total

1.  New fibrillin gene mutation - possible cause of ascending aortic dilation in patients with aortic valve disease: Preliminary results.

Authors:  Ján Dudra; Jaroslav Lindner; Ivan Vaněk; Jana Simova; Ivan Mazura; Ivo Miler; Jana Ciháková; Pavel Capek; Josef Belák
Journal:  Int J Angiol       Date:  2009

2.  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

3.  The importance of mutation detection in Marfan syndrome and Marfan-related disorders: report of 193 FBN1 mutations.

Authors:  Paolo Comeglio; Philip Johnson; Gavin Arno; Glen Brice; Alison Evans; José Aragon-Martin; Filipe Pereira da Silva; Anatoli Kiotsekoglou; Anne Child
Journal:  Hum Mutat       Date:  2007-09       Impact factor: 4.878

4.  Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: an international study.

Authors:  L Faivre; G Collod-Beroud; B L Loeys; A Child; C Binquet; E Gautier; B Callewaert; E Arbustini; K Mayer; M Arslan-Kirchner; A Kiotsekoglou; P Comeglio; N Marziliano; H C Dietz; D Halliday; C Beroud; C Bonithon-Kopp; M Claustres; C Muti; H Plauchu; P N Robinson; L C Adès; A Biggin; B Benetts; M Brett; K J Holman; J De Backer; P Coucke; U Francke; A De Paepe; G Jondeau; C Boileau
Journal:  Am J Hum Genet       Date:  2007-07-25       Impact factor: 11.025

5.  Contribution of molecular analyses in diagnosing Marfan syndrome and type I fibrillinopathies: an international study of 1009 probands.

Authors:  L Faivre; G Collod-Beroud; A Child; B Callewaert; B L Loeys; C Binquet; E Gautier; E Arbustini; K Mayer; M Arslan-Kirchner; C Stheneur; A Kiotsekoglou; P Comeglio; N Marziliano; D Halliday; C Beroud; C Bonithon-Kopp; M Claustres; H Plauchu; P N Robinson; L Adès; J De Backer; P Coucke; U Francke; A De Paepe; C Boileau; G Jondeau
Journal:  J Med Genet       Date:  2008-02-29       Impact factor: 6.318
  5 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.