Literature DB >> 7171752

Figures and fantasies: the frequencies of the different genetic forms of retinitis pigmentosa.

M Jay.   

Abstract

Entities:  

Mesh：

Year:  1982        PMID： 7171752

Source DB:  PubMed          Journal:  Birth Defects Orig Artic Ser        ISSN： 0547-6844


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  9 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.  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

3.  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

4.  Evidence for a major retinitis pigmentosa locus on 19q13.4 (RP11) and association with a unique bimodal expressivity phenotype.

Authors:  M Al-Maghtheh; E Vithana; E Tarttelin; M Jay; K Evans; T Moore; S Bhattacharya; C F Inglehearn
Journal:  Am J Hum Genet       Date:  1996-10       Impact factor: 11.025

Review 5.  RPGR-containing protein complexes in syndromic and non-syndromic retinal degeneration due to ciliary dysfunction.

Authors:  Carlos A Murga-Zamalloa; Anand Swaroop; Hemant Khanna
Journal:  J Genet       Date:  2009-12       Impact factor: 1.166

6.  Retinitis Pigmentosa GTPase Regulator (RPGR) protein isoforms in mammalian retina: insights into X-linked Retinitis Pigmentosa and associated ciliopathies.

Authors:  Shirley He; Sunil K Parapuram; Toby W Hurd; Babak Behnam; Ben Margolis; Anand Swaroop; Hemant Khanna
Journal:  Vision Res       Date:  2007-09-27       Impact factor: 1.886

7.  Characterization of two dominant alleles of the major rhodopsin-encoding gene ninaE in Drosophila.

Authors:  Amitavo Mitra; Yashodhan Chinchore; Ronald Kinser; Patrick J Dolph
Journal:  Mol Vis       Date:  2011-12-14       Impact factor: 2.367

8.  Whole-exome Sequencing Analysis Identifies Mutations in the EYS Gene in Retinitis Pigmentosa in the Indian Population.

Authors:  Yanan Di; Lulin Huang; Periasamy Sundaresan; Shujin Li; Ramasamy Kim; Bibhuti Ballav Saikia; Chao Qu; Xiong Zhu; Yu Zhou; Zhilin Jiang; Lin Zhang; Ying Lin; Dingding Zhang; Yuanfen Li; Houbin Zhang; Yibing Yin; Fang Lu; Xianjun Zhu; Zhenglin Yang
Journal:  Sci Rep       Date:  2016-01-20       Impact factor: 4.379

9.  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
  9 in total

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