Literature DB >> 3198127

Spondyloepiphyseal dysplasia tarda: linkage with genetic markers from the distal short arm of the X chromosome.

S Szpiro-Tapia1, A Sefiani, M Guilloud-Bataille, S Heuertz, B Le Marec, J Frézal, P Maroteaux, M C Hors-Cayla.   

Abstract

A linkage study of six families with spondyloepiphyseal dysplasia tarda (SEDL) has been performed. A linkage to site DXS41 (theta = 0.08; z = 3.07) and DXS92 (theta = 0.05; z = 2.95) has been established. We propose that the SEDL locus lies on the distal part of the short arm of the X chromosome.

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Year:  1988        PMID： 3198127     DOI： 10.1007/bf00283731

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


  17 in total

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Journal:  Nature       Date:  1984 Nov 22-28       Impact factor: 49.962

6.  A strategy to reveal high-frequency RFLPs along the human X chromosome.

Authors:  J Aldridge; L Kunkel; G Bruns; U Tantravahi; M Lalande; T Brewster; E Moreau; M Wilson; W Bromley; T Roderick
Journal:  Am J Hum Genet       Date:  1984-05       Impact factor: 11.025

7.  Genetic mapping of the human X chromosome by using restriction fragment length polymorphisms.

Authors:  D Drayna; K Davies; D Hartley; J L Mandel; G Camerino; R Williamson; R White
Journal:  Proc Natl Acad Sci U S A       Date:  1984-05       Impact factor: 11.205

8.  X-linked spondyloepiphyseal dysplasia tarda: clinical and linkage data.

Authors:  R M Bannerman; G B Ingall; J F Mohn
Journal:  J Med Genet       Date:  1971-09       Impact factor: 6.318

9.  Strategies for multilocus linkage analysis in humans.

Authors:  G M Lathrop; J M Lalouel; C Julier; J Ott
Journal:  Proc Natl Acad Sci U S A       Date:  1984-06       Impact factor: 11.205

10.  Molecular genetics of human color vision: the genes encoding blue, green, and red pigments.

Authors:  J Nathans; D Thomas; D S Hogness
Journal:  Science       Date:  1986-04-11       Impact factor: 47.728
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  8 in total

1.  The molecular basis of X-linked spondyloepiphyseal dysplasia tarda.

Authors:  A K Gedeon; G E Tiller; M Le Merrer; S Heuertz; L Tranebjaerg; D Chitayat; S Robertson; I A Glass; R Savarirayan; W G Cole; D L Rimoin; B G Kousseff; H Ohashi; B Zabel; A Munnich; J Gecz; J C Mulley
Journal:  Am J Hum Genet       Date:  2001-05-08       Impact factor: 11.025

2.  Genetic mapping of 12 marker loci in the Xp22.3-p21.2 region.

Authors:  T Alitalo; T A Kruse; P Ahrens; H M Albertsen; A W Eriksson; A de la Chapelle
Journal:  Hum Genet       Date:  1991-04       Impact factor: 4.132

3.  A recurrent RNA-splicing mutation in the SEDL gene causes X-linked spondyloepiphyseal dysplasia tarda.

Authors:  G E Tiller; V L Hannig; D Dozier; L Carrel; K C Trevarthen; W R Wilcox; S Mundlos; J L Haines; A K Gedeon; J Gecz
Journal:  Am J Hum Genet       Date:  2001-04-26       Impact factor: 11.025

4.  Linkage analysis of two Canadian families segregating for X linked spondyloepiphyseal dysplasia.

Authors:  L E Bernard; D Chitayat; R Weksberg; M I Van Allen; S Langlois
Journal:  J Med Genet       Date:  1996-05       Impact factor: 6.318

5.  Characterisation of a highly polymorphic microsatellite at the DXS207 locus: confirmation of very close linkage to the retinoschisis disease gene.

Authors:  C Oudet; C Weber; J Kaplan; B Segues; M F Croquette; E O Roman; A Hanauer
Journal:  J Med Genet       Date:  1993-04       Impact factor: 6.318

6.  Genetic mapping of Xp22.12-p22.31, with a refined localization for spondyloepiphyseal dysplasia (SEDL).

Authors:  S Heuertz; A Smahi; A O Wilkie; M Le Merrer; P Maroteaux; M C Hors-Cayla
Journal:  Hum Genet       Date:  1995-10       Impact factor: 4.132

7.  X linked spondyloepiphyseal dysplasia: a clinical, radiological, and molecular study of a large kindred.

Authors:  J J MacKenzie; J Fitzpatrick; P Babyn; G B Ferrero; A Ballabio; G Billingsley; D E Bulman; P Strasberg; P N Ray; T Costa
Journal:  J Med Genet       Date:  1996-10       Impact factor: 6.318

8.  X-linked spondyloepiphyseal dysplasia tarda: Identification of a TRAPPC2 mutation in a Korean pedigree.

Authors:  Hyejin Ryu; Joonhong Park; Hyojin Chae; Myungshin Kim; Yonggoo Kim; In-Young Ok
Journal:  Ann Lab Med       Date:  2012-04-18       Impact factor: 3.464
  8 in total

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