Literature DB >> 8457501

Molecular genetics as a 'probe' in ophthalmology.

N Haites.   

Abstract

Mesh：

Year:  1993        PMID： 8457501      PMCID： PMC504455          DOI： 10.1136/bjo.77.3.134

Source DB:  PubMed          Journal:  Br J Ophthalmol        ISSN： 0007-1161            Impact factor:   4.638


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  12 in total

1.  Autosomal dominant retinitis pigmentosa (ADRP): a rhodopsin mutation in a Scottish family.

Authors:  C Bell; C A Converse; M F Collins; L Esakowitz; K F Kelly; N E Haites
Journal:  J Med Genet       Date:  1992-09       Impact factor: 6.318

2.  X-linked recessive familial exudative vitreoretinopathy.

Authors:  D A Plager; I K Orgel; F D Ellis; M Hartzer; M T Trese; B S Shastry
Journal:  Am J Ophthalmol       Date:  1992-08-15       Impact factor: 5.258

3.  A three-base-pair deletion in the peripherin-RDS gene in one form of retinitis pigmentosa.

Authors:  G J Farrar; P Kenna; S A Jordan; R Kumar-Singh; M M Humphries; E M Sharp; D M Sheils; P Humphries
Journal:  Nature       Date:  1991-12-12       Impact factor: 49.962

4.  Isolation of a candidate gene for Norrie disease by positional cloning.

Authors:  W Berger; A Meindl; T J van de Pol; F P Cremers; H H Ropers; C Döerner; A Monaco; A A Bergen; R Lebo; M Warburg
Journal:  Nat Genet       Date:  1992-06       Impact factor: 38.330

5.  Cloning of a gene that is rearranged in patients with choroideraemia.

Authors:  F P Cremers; D J van de Pol; L P van Kerkhoff; B Wieringa; H H Ropers
Journal:  Nature       Date:  1990-10-18       Impact factor: 49.962

Review 6.  Mutations in the candidate gene for Norrie disease.

Authors:  W Berger; D van de Pol; M Warburg; A Gal; L Bleeker-Wagemakers; H de Silva; A Meindl; T Meitinger; F Cremers; H H Ropers
Journal:  Hum Mol Genet       Date:  1992-10       Impact factor: 6.150

7.  Isolation and characterization of a candidate gene for Norrie disease.

Authors:  Z Y Chen; R W Hendriks; M A Jobling; J F Powell; X O Breakefield; K B Sims; I W Craig
Journal:  Nat Genet       Date:  1992-06       Impact factor: 38.330

8.  Autosomal dominant retinitis pigmentosa (adRP): exclusion of a gene from three mapped loci provides evidence for the existence of a fourth locus.

Authors:  S A Jordan; T del Rio; N Soriano; B Garcia-Sandoval; P Kenna; C Ayuso; J Benitez; P Humphries
Journal:  Hum Mol Genet       Date:  1992-09       Impact factor: 6.150

9.  Aberrant splicing of the CHM gene is a significant cause of choroideremia.

Authors:  E M Sankila; R Tolvanen; J A van den Hurk; F P Cremers; A de la Chapelle
Journal:  Nat Genet       Date:  1992-05       Impact factor: 38.330

10.  The autosomal dominant familial exudative vitreoretinopathy locus maps on 11q and is closely linked to D11S533.

Authors:  Y Li; B Müller; C Fuhrmann; C E van Nouhuys; H Laqua; P Humphries; E Schwinger; A Gal
Journal:  Am J Hum Genet       Date:  1992-10       Impact factor: 11.025
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