Literature DB >> 12920076

Evidence of RPGRIP1 gene mutations associated with recessive cone-rod dystrophy.

A Hameed, A Abid, A Aziz, M Ismail, S Q Mehdi, S Khaliq.   

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Year:  2003        PMID： 12920076      PMCID： PMC1735563          DOI： 10.1136/jmg.40.8.616

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  56 in total

Review 1.  Genetic and phenotypic variations of inherited retinal diseases in dogs: the power of within- and across-breed studies.

Authors:  Keiko Miyadera; Gregory M Acland; Gustavo D Aguirre
Journal:  Mamm Genome       Date:  2011-11-08       Impact factor: 2.957

Review 2.  Insights into X-linked retinitis pigmentosa type 3, allied diseases and underlying pathomechanisms.

Authors:  Paulo A Ferreira
Journal:  Hum Mol Genet       Date:  2005-10-15       Impact factor: 6.150

3.  Structural organization and expression pattern of the canine RPGRIP1 isoforms in retinal tissue.

Authors:  Tatyana Kuznetsova; Barbara Zangerl; Orly Goldstein; Gregory M Acland; Gustavo D Aguirre
Journal:  Invest Ophthalmol Vis Sci       Date:  2011-05-06       Impact factor: 4.799

Review 4.  Photoreceptor Cilia and Retinal Ciliopathies.

Authors:  Kinga M Bujakowska; Qin Liu; Eric A Pierce
Journal:  Cold Spring Harb Perspect Biol       Date:  2017-10-03       Impact factor: 10.005

5.  Refinement of the locus for autosomal recessive cone-rod dystrophy (CORD8) linked to chromosome 1q23-q24 in a Pakistani family and exclusion of candidate genes.

Authors:  Muhammad Ismail; Aiysha Abid; Khalid Anwar; S Qasim Mehdi; Shagufta Khaliq
Journal:  J Hum Genet       Date:  2006-08-03       Impact factor: 3.172

6.  Exclusion of RPGRIP1 ins44 from primary causal association with early-onset cone-rod dystrophy in dogs.

Authors:  Tatyana Kuznetsova; Simone Iwabe; Kathleen Boesze-Battaglia; Sue Pearce-Kelling; Yim Chang-Min; Kendra McDaid; Keiko Miyadera; Andras Komaromy; Gustavo D Aguirre
Journal:  Invest Ophthalmol Vis Sci       Date:  2012-08-15       Impact factor: 4.799

7.  Successful gene therapy in the RPGRIP1-deficient dog: a large model of cone-rod dystrophy.

Authors:  Elsa Lhériteau; Lolita Petit; Michel Weber; Guylène Le Meur; Jack-Yves Deschamps; Lyse Libeau; Alexandra Mendes-Madeira; Caroline Guihal; Achille François; Richard Guyon; Nathalie Provost; Françoise Lemoine; Samantha Papal; Aziz El-Amraoui; Marie-Anne Colle; Philippe Moullier; Fabienne Rolling
Journal:  Mol Ther       Date:  2013-10-04       Impact factor: 11.454

Review 8.  [Genetic causes of hereditary cone and cone-rod dystrophies].

Authors:  S Kohl
Journal:  Ophthalmologe       Date:  2009-02       Impact factor: 1.059

9.  Loss of the metalloprotease ADAM9 leads to cone-rod dystrophy in humans and retinal degeneration in mice.

Authors:  David A Parry; Carmel Toomes; Lina Bida; Michael Danciger; Katherine V Towns; Martin McKibbin; Samuel G Jacobson; Clare V Logan; Manir Ali; Jacquelyn Bond; Rebecca Chance; Steven Swendeman; Lauren L Daniele; Kelly Springell; Matthew Adams; Colin A Johnson; Adam P Booth; Hussain Jafri; Yasmin Rashid; Eyal Banin; Tim M Strom; Debora B Farber; Dror Sharon; Carl P Blobel; Edward N Pugh; Eric A Pierce; Chris F Inglehearn
Journal:  Am J Hum Genet       Date:  2009-04-30       Impact factor: 11.025

10.  Phenotypic variation and genotype-phenotype discordance in canine cone-rod dystrophy with an RPGRIP1 mutation.

Authors:  Keiko Miyadera; Kumiko Kato; Jesús Aguirre-Hernández; Tsuyoshi Tokuriki; Kyohei Morimoto; Claudia Busse; Keith Barnett; Nigel Holmes; Hiroyuki Ogawa; Nobuo Sasaki; Cathryn S Mellersh; David R Sargan
Journal:  Mol Vis       Date:  2009-11-11       Impact factor: 2.367
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