Literature DB >> 12843338

Study of the involvement of the RGR, CRPB1, and CRB1 genes in the pathogenesis of autosomal recessive retinitis pigmentosa.

S Bernal1, M Calaf, M Garcia-Hoyos, B Garcia-Sandoval, J Rosell, A Adan, C Ayuso, M Baiget.   

Abstract

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Year:  2003        PMID： 12843338      PMCID： PMC1735523          DOI： 10.1136/jmg.40.7.e89

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


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  18 in total

Review 1.  The retinal pigment epithelium in health and disease.

Authors:  J R Sparrow; D Hicks; C P Hamel
Journal:  Curr Mol Med       Date:  2010-12       Impact factor: 2.222

Review 2.  CRB1 mutations in inherited retinal dystrophies.

Authors:  Kinga Bujakowska; Isabelle Audo; Saddek Mohand-Saïd; Marie-Elise Lancelot; Aline Antonio; Aurore Germain; Thierry Léveillard; Mélanie Letexier; Jean-Paul Saraiva; Christine Lonjou; Wassila Carpentier; José-Alain Sahel; Shomi S Bhattacharya; Christina Zeitz
Journal:  Hum Mutat       Date:  2011-12-27       Impact factor: 4.878

Review 3.  Perspective on genes and mutations causing retinitis pigmentosa.

Authors:  Stephen P Daiger; Sara J Bowne; Lori S Sullivan
Journal:  Arch Ophthalmol       Date:  2007-02

4.  [Genetic and clinical heterogeneity in LCA patients. The end of uniformity].

Authors:  M N Preising; K Paunescu; C Friedburg; B Lorenz
Journal:  Ophthalmologe       Date:  2007-06       Impact factor: 1.059

Review 5.  Diseases caused by defects in the visual cycle: retinoids as potential therapeutic agents.

Authors:  Gabriel H Travis; Marcin Golczak; Alexander R Moise; Krzysztof Palczewski
Journal:  Annu Rev Pharmacol Toxicol       Date:  2007       Impact factor: 13.820

Review 6.  The Family of Crumbs Genes and Human Disease.

Authors:  Anne M Slavotinek
Journal:  Mol Syndromol       Date:  2016-08-18

7.  Novel nonsense and splice site mutations in CRB1 gene in two Japanese patients with early-onset retinal dystrophy.

Authors:  Kazuki Kuniyoshi; Kazuho Ikeo; Hiroyuki Sakuramoto; Masaaki Furuno; Kazutoshi Yoshitake; Yoshikazu Hatsukawa; Akira Nakao; Kazushige Tsunoda; Shunji Kusaka; Yoshikazu Shimomura; Takeshi Iwata
Journal:  Doc Ophthalmol       Date:  2014-10-17       Impact factor: 2.379

8.  Whole exome sequencing identifies CRB1 defect in an unusual maculopathy phenotype.

Authors:  Stephen H Tsang; Tomas Burke; Maris Oll; Suzanne Yzer; Winston Lee; Yajing Angela Xie; Rando Allikmets
Journal:  Ophthalmology       Date:  2014-05-06       Impact factor: 12.079

9.  Defining inclusion criteria and endpoints for clinical trials: a prospective cross-sectional study in CRB1-associated retinal dystrophies.

Authors:  Mays Talib; Mary J van Schooneveld; Jan Wijnholds; Maria M van Genderen; Nicoline E Schalij-Delfos; Herman E Talsma; Ralph J Florijn; Jacoline B Ten Brink; Frans P M Cremers; Alberta A H J Thiadens; L Ingeborgh van den Born; Carel B Hoyng; Magda A Meester-Smoor; Arthur A Bergen; Camiel J F Boon
Journal:  Acta Ophthalmol       Date:  2021-02-02       Impact factor: 3.761

10.  Genome-wide analysis points to roles for extracellular matrix remodeling, the visual cycle, and neuronal development in myopia.

Authors:  Amy K Kiefer; Joyce Y Tung; Chuong B Do; David A Hinds; Joanna L Mountain; Uta Francke; Nicholas Eriksson
Journal:  PLoS Genet       Date:  2013-02-28       Impact factor: 5.917
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