Literature DB >> 8004112

Two novel mutations and a neutral polymorphism in EGF-like domains of the fibrillin gene (FBN1): SSCP screening of exons 15-21 in Marfan syndrome patients.

C Hayward1, A L Rae, M E Porteous, L J Logie, D J Brock.   

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Year:  1994        PMID： 8004112     DOI： 10.1093/hmg/3.2.373

Source DB:  PubMed          Journal:  Hum Mol Genet        ISSN： 0964-6906            Impact factor:   6.150


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  13 in total

1.  Familial occurrence of typical and severe lethal congenital contractural arachnodactyly caused by missplicing of exon 34 of fibrillin-2.

Authors:  M Wang; C L Clericuzio; M Godfrey
Journal:  Am J Hum Genet       Date:  1996-11       Impact factor: 11.025

2.  Fluorescence-based mutation detection. Single-strand conformation polymorphism analysis (F-SSCP).

Authors:  J S Ellison
Journal:  Mol Biotechnol       Date:  1996-02       Impact factor: 2.695

3.  Evolving phenotype of Marfan's syndrome.

Authors:  K J Lipscomb; J Clayton-Smith; R Harris
Journal:  Arch Dis Child       Date:  1997-01       Impact factor: 3.791

4.  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

5.  Double mutant fibrillin-1 (FBN1) allele in a patient with neonatal Marfan syndrome.

Authors:  M Wang; P Kishnani; M Decker-Phillips; S G Kahler; Y T Chen; M Godfrey
Journal:  J Med Genet       Date:  1996-09       Impact factor: 6.318

6.  Cysteine substitutions in epidermal growth factor-like domains of fibrillin-1: distinct effects on biochemical and clinical phenotypes.

Authors:  I Schrijver; W Liu; T Brenn; H Furthmayr; U Francke
Journal:  Am J Hum Genet       Date:  1999-10       Impact factor: 11.025

7.  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

8.  Classical and neonatal Marfan syndrome mutations in fibrillin-1 cause differential protease susceptibilities and protein function.

Authors:  Ryan Kirschner; Dirk Hubmacher; Garud Iyengar; Jasvir Kaur; Christine Fagotto-Kaufmann; Dieter Brömme; Rainer Bartels; Dieter P Reinhardt
Journal:  J Biol Chem       Date:  2011-07-22       Impact factor: 5.157

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.  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
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