Literature DB >> 7557961

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

S Heuertz1, A Smahi, A O Wilkie, M Le Merrer, P Maroteaux, M C Hors-Cayla.   

Abstract

Spondyloepiphyseal dysplasia tarda (SEDL) is an X-linked recessive disorder characterized in affected males by short stature resulting from a growth defect of the vertebral bodies. We have extended our earlier studies by analyzing 15 families with newly identified microsatellite DNA markers; analysis of recombination events with these markers indicates that the gene responsible for SEDL is located in Xp22 between DXS 16 and DXS 987 on an interval spanning approximately 2 Mb.

Entities:  

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Year:  1995        PMID： 7557961     DOI： 10.1007/bf00191797

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


  10 in total

1.  Directed isolation of human genes that escape X inactivation.

Authors:  J Ellison; M Passage; L C Yu; P Yen; T K Mohandas; L Shapiro
Journal:  Somat Cell Mol Genet       Date:  1992-05

2.  The 1993-94 Généthon human genetic linkage map.

Authors:  G Gyapay; J Morissette; A Vignal; C Dib; C Fizames; P Millasseau; S Marc; G Bernardi; M Lathrop; J Weissenbach
Journal:  Nat Genet       Date:  1994-06       Impact factor: 38.330

3.  Spondylo-epiphyseal dysplasia tarda: a report of four cases in two families.

Authors:  P S Harper; P Jenkins; K M Laurence
Journal:  Br J Radiol       Date:  1973-09       Impact factor: 3.039

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

Authors:  S Szpiro-Tapia; A Sefiani; M Guilloud-Bataille; S Heuertz; B Le Marec; J Frézal; P Maroteaux; M C Hors-Cayla
Journal:  Hum Genet       Date:  1988-12       Impact factor: 4.132

5.  Fine deletion mapping of the p22 region of the human X chromosome using a radiation-induced hybrid panel.

Authors:  S Heuertz; A Smahi; M Sanak; L Holvoet-Vermaut; M C Hors-Cayla
Journal:  Cytogenet Cell Genet       Date:  1995

6.  Report and abstracts of the Fifth International Workshop on Human X Chromosome Mapping 1994. Heidelberg, Germany, April 24-27, 1994.

Authors:  H F Willard; F Cremers; J L Mandel; A P Monaco; D L Nelson; D Schlessinger
Journal:  Cytogenet Cell Genet       Date:  1994

7.  The gene for spondyloepiphyseal dysplasia (SEDL) maps to Xp22 between DXS16 and DXS92.

Authors:  S Heuertz; M Nelen; A O Wilkie; M Le Merrer; O Delrieu; L Larget-Piet; L Tranebjaerg; D Bick; B Hamel; B A Van Oost
Journal:  Genomics       Date:  1993-10       Impact factor: 5.736

8.  Hypomagnesemia with secondary hypocalcemia in a female with balanced X;9 translocation: mapping of the Xp22 chromosome breakpoint.

Authors:  M Chery; V Biancalana; C Philippe; G Malpuech; H Carla; S Gilgenkrantz; J L Mandel; A Hanauer
Journal:  Hum Genet       Date:  1994-05       Impact factor: 4.132

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.  Alpha subunit variants of the human glycine receptor: primary structures, functional expression and chromosomal localization of the corresponding genes.

Authors:  G Grenningloh; V Schmieden; P R Schofield; P H Seeburg; T Siddique; T K Mohandas; C M Becker; H Betz
Journal:  EMBO J       Date:  1990-03       Impact factor: 11.598
  10 in total
  3 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.  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

3.  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
  3 in total

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