Literature DB >> 2882458

Choroideremia in interstitial deletion of the X chromosome.

T Rosenberg, M Schwartz, E Niebuhr, H M Yang, H Sardemann, O Andersen, C Lundsteen.   

Abstract

An earlier reported family with a deletion of the proximal long arm of the X chromosome was reinvestigated with special attention to the presence of choroideremia. Two females were identified as carriers of choroideremia while a tapeto-retinal dystrophy was ascertained in a mentally retarded boy. RFLP analysis revealed that the interstitial deletion covered the locus DXYS1 and not DXS17. Chromosome studies indicated a deletion within the Xq21 area.

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Mesh：

Year:  1986        PMID： 2882458     DOI： 10.3109/13816818609004140

Source DB:  PubMed          Journal:  Ophthalmic Paediatr Genet        ISSN： 0167-6784


  16 in total

1.  Physical fine mapping of genes underlying X-linked deafness and non fra (X)-X-linked mental retardation at Xq21.

Authors:  I Bach; D Robinson; N Thomas; H H Ropers; F P Cremers
Journal:  Hum Genet       Date:  1992-08       Impact factor: 4.132

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

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

3.  A deletion panel of the long arm of the X chromosome: subregional localization of 22 DNA probes.

Authors:  H M Yang; T Lund; E Niebuhr; S Nørby; M Schwartz; L Shen
Journal:  Hum Genet       Date:  1990-06       Impact factor: 4.132

4.  Linkage studies and deletion screening in choroideremia.

Authors:  A F Wright; R L Nussbaum; S S Bhattacharya; M Jay; J G Lesko; H J Evans; B Jay
Journal:  J Med Genet       Date:  1990-08       Impact factor: 6.318

5.  Flecked retina associated with ring 17 chromosome.

Authors:  S J Charles; A T Moore; B C Davison; H M Dyson; L Willatt
Journal:  Br J Ophthalmol       Date:  1991-02       Impact factor: 4.638

6.  Haplotype and multipoint linkage analysis in Finnish choroideremia families.

Authors:  E M Sankila; T Lehner; A W Eriksson; H Forsius; J Kärnä; D Page; J Ott; A de la Chapelle
Journal:  Hum Genet       Date:  1989-12       Impact factor: 4.132

7.  Deletions in patients with classical choroideremia vary in size from 45 kb to several megabases.

Authors:  F P Cremers; E M Sankila; F Brunsmann; M Jay; B Jay; A Wright; A J Pinckers; M Schwartz; D J van de Pol; B Wieringa
Journal:  Am J Hum Genet       Date:  1990-10       Impact factor: 11.025

8.  Prevalence of tapeto-retinal dystrophies among Danish children.

Authors:  T Rosenberg
Journal:  Doc Ophthalmol       Date:  1989-09       Impact factor: 2.379

9.  Isolation of a candidate gene for choroideremia.

Authors:  D E Merry; P A Jänne; J E Landers; R A Lewis; R L Nussbaum
Journal:  Proc Natl Acad Sci U S A       Date:  1992-03-15       Impact factor: 11.205

10.  Molecular analysis of male-viable deletions and duplications allows ordering of 52 DNA probes on proximal Xq.

Authors:  F P Cremers; T J van de Pol; B Wieringa; M H Hofker; P L Pearson; R A Pfeiffer; M Mikkelsen; A Tabor; H H Ropers
Journal:  Am J Hum Genet       Date:  1988-10       Impact factor: 11.025
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