Literature DB >> 25646068

Identification of a fibrillin-1 gene mutation in a monozygotic twin presenting with bilateral juvenile-onset ectopia lentis.

Hae Ri Yum1, Sung Eun Kim1, Sun Young Shin1, Shin Hae Park1.   

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Year:  2015        PMID： 25646068      PMCID： PMC4309877          DOI： 10.3341/kjo.2015.29.1.77

Source DB:  PubMed          Journal:  Korean J Ophthalmol        ISSN： 1011-8942


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  5 in total

Review 1.  Marfan syndrome: an update of genetics, medical and surgical management.

Authors:  Yskert von Kodolitsch; Peter N Robinson
Journal:  Heart       Date:  2007-06       Impact factor: 5.994

2.  Identification of the minimal combination of clinical features in probands for efficient mutation detection in the FBN1 gene.

Authors:  Chantal Stheneur; Gwenaëlle Collod-Béroud; Laurence Faivre; Jean François Buyck; Laurent Gouya; Jean-Marie Le Parc; Bertrand Moura; Christine Muti; Bernard Grandchamp; Gilles Sultan; Mireille Claustres; Philippe Aegerter; Bertrand Chevallier; Guillaume Jondeau; Catherine Boileau
Journal:  Eur J Hum Genet       Date:  2009-03-18       Impact factor: 4.246

Review 3.  Mutations in the human gene for fibrillin-1 (FBN1) in the Marfan syndrome and related disorders.

Authors:  H C Dietz; R E Pyeritz
Journal:  Hum Mol Genet       Date:  1995       Impact factor: 6.150

4.  FBN1 mutation screening of patients with Marfan syndrome and related disorders: detection of 46 novel FBN1 mutations.

Authors:  M Attanasio; I Lapini; L Evangelisti; L Lucarini; B Giusti; Mc Porciani; R Fattori; C Anichini; R Abbate; Gf Gensini; G Pepe
Journal:  Clin Genet       Date:  2008-04-22       Impact factor: 4.438

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

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