Literature DB >> 3994951

A genetic linkage study of a kindred with X-linked retinitis pigmentosa.

S S Bhattacharya, J F Clayton, P S Harper, G W Hoare, M R Jay, A L Lyness, A F Wright.   

Abstract

A large kindred with X-linked retinitis pigmentosa (XLRP) was investigated clinically and by means of genetic linkage with a view to developing methods of carrier detection and early diagnosis. A restriction fragment length polymorphism, identified by recombinant DNA probe L1.28, showed close genetic linkage to XLRP in this kindred and is a potentially useful marker for the purposes of genetic counselling.

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Year:  1985        PMID： 3994951      PMCID： PMC1040599          DOI： 10.1136/bjo.69.5.340

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


  13 in total

1.  Detection of specific sequences among DNA fragments separated by gel electrophoresis.

Authors:  E M Southern
Journal:  J Mol Biol       Date:  1975-11-05       Impact factor: 5.469

2.  X-linked retinitis pigmentosa.

Authors:  A C Bird
Journal:  Br J Ophthalmol       Date:  1975-04       Impact factor: 4.638

3.  Estimation of the recombination fraction in human pedigrees: efficient computation of the likelihood for human linkage studies.

Authors:  J Ott
Journal:  Am J Hum Genet       Date:  1974-09       Impact factor: 11.025

4.  Rod and cone responses in sex-linked retinitis pigmentosa.

Authors:  E L Berson; P Gouras; R D Gunkel; N C Myrianthopoulos
Journal:  Arch Ophthalmol       Date:  1969-02

5.  Choroido-retinal dystrophy.

Authors:  G W Hoare
Journal:  Br J Ophthalmol       Date:  1965-09       Impact factor: 4.638

6.  Specific deficits of flicker sensitivity in glaucoma and ocular hypertension.

Authors:  C W Tyler
Journal:  Invest Ophthalmol Vis Sci       Date:  1981-02       Impact factor: 4.799

7.  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

Review 8.  On the genetic length of the short arm of the human X chromosome.

Authors:  H H Ropers; P Wieacker; T F Wienker; K Davies; R Williamson
Journal:  Hum Genet       Date:  1983       Impact factor: 4.132

9.  A modified ERG technique and the results obtained in X-linked retinitis pigmentosa.

Authors:  G B Arden; R M Carter; C R Hogg; D J Powell; W J Ernst; G M Clover; A L Lyness; M P Quinlan
Journal:  Br J Ophthalmol       Date:  1983-07       Impact factor: 4.638

10.  Gene action in the X-chromosome of the mouse (Mus musculus L.).

Authors:  M F LYON
Journal:  Nature       Date:  1961-04-22       Impact factor: 49.962
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  7 in total

1.  Clinical and genetic heterogeneity in retinitis pigmentosa.

Authors:  J Kaplan; D Bonneau; J Frézal; A Munnich; J L Dufier
Journal:  Hum Genet       Date:  1990-10       Impact factor: 4.132

2.  Genetic localisation of the RP2 type of X linked retinitis pigmentosa in a large kindred.

Authors:  A F Wright; S S Bhattacharya; M A Aldred; M Jay; A D Carothers; N S Thomas; A C Bird; B Jay; H J Evans
Journal:  J Med Genet       Date:  1991-07       Impact factor: 6.318

3.  Mapping the gene for X-linked cataracts and microcornea with facial, dental, and skeletal features to Xp22: an appraisal of the Nance-Horan syndrome.

Authors:  R A Lewis
Journal:  Trans Am Ophthalmol Soc       Date:  1989

4.  Linkage relationships between X-linked retinitis pigmentosa and nine short-arm markers: exclusion of the disease locus from Xp21 and localization to between DXS7 and DXS14.

Authors:  A F Wright; S S Bhattacharya; J F Clayton; M Dempster; P Tippett; C M McKeown; M Jay; B Jay; A C Bird
Journal:  Am J Hum Genet       Date:  1987-10       Impact factor: 11.025

5.  Genetic linkage between X-linked retinitis pigmentosa and DNA probe DXS7 (L1.28): further linkage data, heterogeneity testing, and risk estimation.

Authors:  J F Clayton; A F Wright; M Jay; C M McKeown; M Dempster; B S Jay; A C Bird; S S Bhattacharya
Journal:  Hum Genet       Date:  1986-10       Impact factor: 4.132

Review 6.  A Systematic Review and Meta-Analyses of Interventional Clinical Trial Studies for Gene Therapies for the Inherited Retinal Degenerations (IRDs).

Authors:  Gearóid P Tuohy; Roly Megaw
Journal:  Biomolecules       Date:  2021-05-19

7.  A family with RP3 type of X-linked retinitis pigmentosa: an association with ciliary abnormalities.

Authors:  D B van Dorp; A F Wright; A D Carothers; E M Bleeker-Wagemakers
Journal:  Hum Genet       Date:  1992-01       Impact factor: 4.132
  7 in total

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