Literature DB >> 7111271

Genetic and clinical characterization of a survey population with retinitis pigmentosa.

J A Boughman, R J Caldwell.   

Abstract

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Year:  1982        PMID： 7111271

Source DB:  PubMed          Journal:  Prog Clin Biol Res        ISSN： 0361-7742


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  6 in total

1.  Mutations in ASCC3L1 on 2q11.2 are associated with autosomal dominant retinitis pigmentosa in a Chinese family.

Authors:  Ningdong Li; Han Mei; Ian M MacDonald; XiaoDong Jiao; J Fielding Hejtmancik
Journal:  Invest Ophthalmol Vis Sci       Date:  2009-08-26       Impact factor: 4.799

2.  A novel locus for autosomal recessive retinitis pigmentosa in a consanguineous Pakistani family maps to chromosome 2p.

Authors:  Shagufta Naz; S Amer Riazuddin; Lin Li; Mariam Shahid; Samra Kousar; Paul A Sieving; J Fielding Hejtmancik; Sheikh Riazuddin
Journal:  Am J Ophthalmol       Date:  2010-03-15       Impact factor: 5.258

3.  A mutation in ZNF513, a putative regulator of photoreceptor development, causes autosomal-recessive retinitis pigmentosa.

Authors:  Lin Li; Naoki Nakaya; Venkata R M Chavali; Zhiwei Ma; Xiaodong Jiao; Paul A Sieving; Sheikh Riazuddin; Stanislav I Tomarev; Radha Ayyagari; S Amer Riazuddin; J Fielding Hejtmancik
Journal:  Am J Hum Genet       Date:  2010-09-10       Impact factor: 11.025

Review 4.  Molecular genetics of retinitis pigmentosa.

Authors:  D B Farber; J R Heckenlively; R S Sparkes; J B Bateman
Journal:  West J Med       Date:  1991-10

5.  A homozygous p.Glu150Lys mutation in the opsin gene of two Pakistani families with autosomal recessive retinitis pigmentosa.

Authors:  Maleeha Azam; Muhammad Imran Khan; Andreas Gal; Alamdar Hussain; Syed Tahir Abbas Shah; Muhammad Shakil Khan; Ahmed Sadeque; Habib Bokhari; Rob W J Collin; Ulrike Orth; Maria M van Genderen; A I den Hollander; Frans P M Cremers; Raheel Qamar
Journal:  Mol Vis       Date:  2009-12-03       Impact factor: 2.367

6.  AIPL1 implicated in the pathogenesis of two cases of autosomal recessive retinal degeneration.

Authors:  David Li; Chongfei Jin; Xiaodong Jiao; Lin Li; Tahmina Bushra; Muhammad Asif Naeem; Nadeem H Butt; Tayyab Husnain; Paul A Sieving; Sheikh Riazuddin; S Amer Riazuddin; J Fielding Hejtmancik
Journal:  Mol Vis       Date:  2014-01-06       Impact factor: 2.367
  6 in total

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