Literature DB >> 21836810

Reply to "The question of heterogeneity in Marfan syndrome"

Catherine Boileau1, Claudine Junien, Gwenaëlle Collod, Guillaume Jondeau, Olivier Dubourg, Jean-Pierre Bourdarias, Catherine Bonaïti-Pellié, Jean Frezal, Pierre Maroteaux.   

Abstract

Entities:  

Year:  1995        PMID： 21836810      PMCID： PMC3152972          DOI： 10.1038/ng0395-230

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


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  15 in total

1.  Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene.

Authors:  H C Dietz; G R Cutting; R E Pyeritz; C L Maslen; L Y Sakai; G M Corson; E G Puffenberger; A Hamosh; E J Nanthakumar; S M Curristin
Journal:  Nature       Date:  1991-07-25       Impact factor: 49.962

2.  Linkage analysis of five fibrillar collagen loci in a large French Marfan syndrome family.

Authors:  C Boileau; G Jondeau; C Bonaiti; M Coulon; G Delorme; O Dubourg; J P Bourdarias; C Junien
Journal:  J Med Genet       Date:  1990-02       Impact factor: 6.318

3.  Effects of misspecifying genetic parameters in lod score analysis.

Authors:  F Clerget-Darpoux; C Bonaïti-Pellié; J Hochez
Journal:  Biometrics       Date:  1986-06       Impact factor: 2.571

4.  Autosomal dominant Marfan-like connective-tissue disorder with aortic dilation and skeletal anomalies not linked to the fibrillin genes.

Authors:  C Boileau; G Jondeau; M C Babron; M Coulon; J A Alexandre; L Sakai; J Melki; G Delorme; O Dubourg; C Bonaïti-Pellié
Journal:  Am J Hum Genet       Date:  1993-07       Impact factor: 11.025

5.  Marfan syndrome or Marfan-like connective-tissue disorder.

Authors:  D M Gilchrist
Journal:  Am J Hum Genet       Date:  1994-03       Impact factor: 11.025

6.  A molecular approach to the stratification of cardiovascular risk in families with Marfan's syndrome.

Authors:  L Pereira; O Levran; F Ramirez; J R Lynch; B Sykes; R E Pyeritz; H C Dietz
Journal:  N Engl J Med       Date:  1994-07-21       Impact factor: 91.245

7.  Recommendations regarding quantitation in M-mode echocardiography: results of a survey of echocardiographic measurements.

Authors:  D J Sahn; A DeMaria; J Kisslo; A Weyman
Journal:  Circulation       Date:  1978-12       Impact factor: 29.690

8.  Echocardiographic measurements in normal subjects from infancy to old age.

Authors:  W L Henry; J M Gardin; J H Ware
Journal:  Circulation       Date:  1980-11       Impact factor: 29.690

9.  Quantitative differences in biosynthesis and extracellular deposition of fibrillin in cultured fibroblasts distinguish five groups of Marfan syndrome patients and suggest distinct pathogenetic mechanisms.

Authors:  T Aoyama; U Francke; H C Dietz; H Furthmayr
Journal:  J Clin Invest       Date:  1994-07       Impact factor: 14.808

10.  A second locus for Marfan syndrome maps to chromosome 3p24.2-p25.

Authors:  G Collod; M C Babron; G Jondeau; M Coulon; J Weissenbach; O Dubourg; J P Bourdarias; C Bonaïti-Pellié; C Junien; C Boileau
Journal:  Nat Genet       Date:  1994-11       Impact factor: 38.330
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