Literature DB >> 7924455

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

H F Willard, F Cremers, J L Mandel, A P Monaco, D L Nelson, D Schlessinger.   

Abstract

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Year:  1994        PMID: 7924455     DOI: 10.1159/000133870

Source DB:  PubMed          Journal:  Cytogenet Cell Genet        ISSN: 0301-0171


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  17 in total

1.  A mutation causing Alport syndrome with tardive hearing loss is common in the western United States.

Authors:  D F Barker; C J Pruchno; X Jiang; C L Atkin; E M Stone; J C Denison; P R Fain; M C Gregory
Journal:  Am J Hum Genet       Date:  1996-06       Impact factor: 11.025

2.  Localisation of X linked recessive idiopathic hypoparathyroidism to a 1.5 Mb region on Xq26-q27.

Authors:  D Trump; P H Dixon; S Mumm; C Wooding; K E Davies; D Schlessinger; M P Whyte; R V Thakker
Journal:  J Med Genet       Date:  1998-11       Impact factor: 6.318

3.  Localisation of two candidate genes for mental retardation using a YAC physical map of the Xq21.1-21.2 subbands.

Authors:  L Colleaux; M May; J Belougne; D Lepaslier; C Schwartz; M Fontes
Journal:  J Med Genet       Date:  1996-05       Impact factor: 6.318

4.  Linkage analysis in Rett syndrome families suggests that there may be a critical region at Xq28.

Authors:  T Webb; A Clarke; F Hanefeld; J L Pereira; L Rosenbloom; C G Woods
Journal:  J Med Genet       Date:  1998-12       Impact factor: 6.318

5.  IXDB, an X chromosome integrated database.

Authors:  U Leser; R Wagner; A Grigoriev; H Lehrach; H Roest Crollius
Journal:  Nucleic Acids Res       Date:  1998-01-01       Impact factor: 16.971

6.  Arch fingerprints, hypotonia, and areflexia associated with X linked mental retardation.

Authors:  R E Stevenson; B Häne; J F Arena; M May; L Lawrence; H A Lubs; C E Schwartz
Journal:  J Med Genet       Date:  1997-06       Impact factor: 6.318

7.  Molecular definition of breakpoints associated with human Xq isochromosomes: implications for mechanisms of formation.

Authors:  D J Wolff; A P Miller; D L Van Dyke; S Schwartz; H F Willard
Journal:  Am J Hum Genet       Date:  1996-01       Impact factor: 11.025

8.  Construction of a YAC contig and an STS map spanning 3.6 megabase pairs in Xp22.1.

Authors:  D Trump; G Pilia; P H Dixon; C Wooding; R Thakrar; S E Leigh; R Nagaraja; M P Whyte; D Schlessinger; R V Thakker
Journal:  Hum Genet       Date:  1996-01       Impact factor: 4.132

9.  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

10.  Testicular development in an SRY-negative 46,XX individual harboring a distal Xp deletion.

Authors:  A Tar; J Sólyom; B Györvári; A Ion; L Telvi; S Barbaux; N Souleyreau; E Vilain; M Fellous; K McElreavey
Journal:  Hum Genet       Date:  1995-10       Impact factor: 4.132

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