Literature DB >> 1976814

Linkage studies and deletion screening in choroideremia.

A F Wright1, R L Nussbaum, S S Bhattacharya, M Jay, J G Lesko, H J Evans, B Jay.   

Abstract

Fourteen families with choroideremia (TCD) have been examined for linkage to nine genetic markers located on the proximal long arm of the X chromosome. Linkage to three markers (DXYS1, DXS72, DXS3) located in Xq21 was found with a four point lod score of 8.25. No evidence of submicroscopic deletions was observed using DXS233 and DXS232, both thought to lie within about 1 Mb of the TCD gene.

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Year:  1990        PMID： 1976814      PMCID： PMC1017197          DOI： 10.1136/jmg.27.8.496

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  17 in total

Review 1.  Report of the committee on the genetic constitution of the X chromosome.

Authors:  J L Mandel; H F Willard; R L Nussbaum; G Romeo; J M Puck; K E Davies
Journal:  Cytogenet Cell Genet       Date:  1989

2.  A multipoint linkage analysis program for X-linked disorders, with the example of Duchenne muscular dystrophy and seven DNA probes.

Authors:  J Clayton
Journal:  Hum Genet       Date:  1986-05       Impact factor: 4.132

3.  Report of the Committee on Methods of Linkage Analysis and Reporting.

Authors:  P M Conneally; J H Edwards; K K Kidd; J M Lalouel; N E Morton; J Ott; R White
Journal:  Cytogenet Cell Genet       Date:  1985

4.  Regional localization on the human X of DNA segments cloned from flow sorted chromosomes.

Authors:  L M Kunkel; U Tantravahi; M Eisenhard; S A Latt
Journal:  Nucleic Acids Res       Date:  1982-03-11       Impact factor: 16.971

5.  Prenatal diagnosis of X-linked choroideremia with mental retardation, associated with a cytologically detectable X-chromosome deletion.

Authors:  S V Hodgson; M E Robertson; C N Fear; J Goodship; S Malcolm; B Jay; M Bobrow; M E Pembrey
Journal:  Hum Genet       Date:  1987-03       Impact factor: 4.132

6.  Choroideremia is linked to the restriction fragment length polymorphism DXYS1 at XQ13-21.

Authors:  R L Nussbaum; R A Lewis; J G Lesko; R Ferrell
Journal:  Am J Hum Genet       Date:  1985-05       Impact factor: 11.025

7.  A genetic linkage study of choroideremia.

Authors:  M Jay; A F Wright; J F Clayton; M Deans; M Dempster; S S Bhattacharya; B Jay
Journal:  Ophthalmic Paediatr Genet       Date:  1986-12

8.  Choroideremia in interstitial deletion of the X chromosome.

Authors:  T Rosenberg; M Schwartz; E Niebuhr; H M Yang; H Sardemann; O Andersen; C Lundsteen
Journal:  Ophthalmic Paediatr Genet       Date:  1986-12

9.  Choroideremia-locus maps between DXS3 and DXS11 on Xq.

Authors:  A Gal; F Brunsmann; D Hogenkamp; K Rüther; D Ahlert; T F Wienker; W Hammerstein; I H Pawlowitzki
Journal:  Hum Genet       Date:  1986-06       Impact factor: 4.132

10.  Choroideremia: further evidence for assignment of the locus to Xq13-Xq21.

Authors:  M Schwartz; T Rosenberg; E Niebuhr; C Lundsteen; H Sardemann; O Andersen; H M Yang; L U Lamm
Journal:  Hum Genet       Date:  1986-12       Impact factor: 4.132
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  2 in total

1.  Linkage analysis of Norrie disease with X-chromosomal ornithine aminotransferase.

Authors:  J B Bateman
Journal:  Trans Am Ophthalmol Soc       Date:  1992

2.  Choroideremia: linkage analysis with physically mapped close DNA-markers.

Authors:  E M Sankila; P Sistonen; F Cremers; A de la Chapelle
Journal:  Hum Genet       Date:  1991-07       Impact factor: 4.132
  2 in total

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