Literature DB >> 7870075

A novel mutation in the fibrillin gene (FBN1) in familial arachnodactyly.

C Hayward1, M E Porteous, D J Brock.   

Abstract

Mutations of the fibrillin gene (FBN1) are known to cause classical Marfan's syndrome, ectopia lentis and neonatal Marfan's syndrome. We have identified a novel missense mutation in exon 28 of the FBN1 gene (R1170H) which is responsible for an atypical marfanoid phenotype characterised by dolichostenomelia and arachnodactyly.

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Year:  1994        PMID： 7870075     DOI： 10.1006/mcpr.1994.1045

Source DB:  PubMed          Journal:  Mol Cell Probes        ISSN： 0890-8508            Impact factor:   2.365


  12 in total

Review 1.  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

2.  Marfan Database (second edition): software and database for the analysis of mutations in the human FBN1 gene.

Authors:  G Collod-Béroud; C Béroud; L Adès; C Black; M Boxer; D J Brock; M Godfrey; C Hayward; L Karttunen; D Milewicz; L Peltonen; R I Richards; M Wang; C Junien; C Boileau
Journal:  Nucleic Acids Res       Date:  1997-01-01       Impact factor: 16.971

Review 3.  The molecular genetics of Marfan syndrome and related disorders.

Authors:  P N Robinson; E Arteaga-Solis; C Baldock; G Collod-Béroud; P Booms; A De Paepe; H C Dietz; G Guo; P A Handford; D P Judge; C M Kielty; B Loeys; D M Milewicz; A Ney; F Ramirez; D P Reinhardt; K Tiedemann; P Whiteman; M Godfrey
Journal:  J Med Genet       Date:  2006-03-29       Impact factor: 6.318

4.  Marfan Database (third edition): new mutations and new routines for the software.

Authors:  G Collod-Béroud; C Béroud; L Ades; C Black; M Boxer; D J Brock; K J Holman; A de Paepe; U Francke; U Grau; C Hayward; H G Klein; W Liu; L Nuytinck; L Peltonen; A B Alvarez Perez; T Rantamäki; C Junien; C Boileau
Journal:  Nucleic Acids Res       Date:  1998-01-01       Impact factor: 16.971

5.  Paucity of skeletal manifestations in Hispanic families with FBN1 mutations.

Authors:  Carlos Villamizar; Ellen S Regalado; Van Tran Fadulu; Sumera N Hasham; Prateek Gupta; Marcia C Willing; Shao-Qing Kuang; Dongchuan Guo; Ann Muilenburg; Richard W Yee; Yuxin Fan; Jeffrey Towbin; Joseph S Coselli; Scott A LeMaire; Dianna M Milewicz
Journal:  Eur J Med Genet       Date:  2009-11-23       Impact factor: 2.708

6.  Multiple molecular mechanisms underlying subdiagnostic variants of Marfan syndrome.

Authors:  R A Montgomery; M T Geraghty; E Bull; B D Gelb; M Johnson; I McIntosh; C A Francomano; H C Dietz
Journal:  Am J Hum Genet       Date:  1998-12       Impact factor: 11.025

7.  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

8.  Software and database for the analysis of mutations in the human FBN1 gene.

Authors:  G Collod; C Béroud; T Soussi; C Junien; C Boileau
Journal:  Nucleic Acids Res       Date:  1996-01-01       Impact factor: 16.971

Review 9.  Skeletal manifestations of Marfan syndrome associated to heterozygous R2726W FBN1 variant: sibling case report and literature review.

Authors:  Octavio D Reyes-Hernández; Carmen Palacios-Reyes; Sonia Chávez-Ocaña; Enoc M Cortés-Malagón; Patricia Garcia Alonso-Themann; Víctor Ramos-Cano; Julián Ramírez-Bello; Mónica Sierra-Martínez
Journal:  BMC Musculoskelet Disord       Date:  2016-02-15       Impact factor: 2.362

10.  New population-based exome data question the pathogenicity of some genetic variants previously associated with Marfan syndrome.

Authors:  Ren-Qiang Yang; Javad Jabbari; Xiao-Shu Cheng; Reza Jabbari; Jonas B Nielsen; Bjarke Risgaard; Xu Chen; Ahmad Sajadieh; Stig Haunsø; Jesper Hastrup Svendsen; Morten S Olesen; Jacob Tfelt-Hansen
Journal:  BMC Genet       Date:  2014-06-18       Impact factor: 2.797
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