Literature DB >> 12843339

Evidence of autosomal dominant Leber congenital amaurosis (LCA) underlain by a CRX heterozygous null allele.

I Perrault1, S Hanein, S Gerber, F Barbet, J-L Dufier, A Munnich, J-M Rozet, J Kaplan.   

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Year:  2003        PMID： 12843339      PMCID： PMC1735514          DOI： 10.1136/jmg.40.7.e90

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


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  13 in total

Review 1.  Gene therapy for Leber congenital amaurosis: advances and future directions.

Authors:  Robert B Hufnagel; Zubair M Ahmed; Zélia M Corrêa; Robert A Sisk
Journal:  Graefes Arch Clin Exp Ophthalmol       Date:  2012-05-29       Impact factor: 3.117

Review 2.  Perspective on genes and mutations causing retinitis pigmentosa.

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

3.  Further evidence of autosomal-dominant Leber congenital amaurosis caused by heterozygous CRX mutation.

Authors:  Panfeng Wang; Xiangming Guo; Qingjiong Zhang
Journal:  Graefes Arch Clin Exp Ophthalmol       Date:  2007-03-09       Impact factor: 3.117

4.  Which Leber congenital amaurosis patients are eligible for gene therapy trials?

Authors:  Arlene V Drack; Rebecca Johnston; Edwin M Stone
Journal:  J AAPOS       Date:  2009-10       Impact factor: 1.220

5.  Mutation discovered in a feline model of human congenital retinal blinding disease.

Authors:  Marilyn Menotti-Raymond; Koren Holland Deckman; Victor David; Jaimie Myrkalo; Stephen J O'Brien; Kristina Narfström
Journal:  Invest Ophthalmol Vis Sci       Date:  2010-01-06       Impact factor: 4.799

Review 6.  Mechanisms of blindness: animal models provide insight into distinct CRX-associated retinopathies.

Authors:  Nicholas M Tran; Shiming Chen
Journal:  Dev Dyn       Date:  2014-06-27       Impact factor: 3.780

7.  From the laboratory to the clinic: molecular genetic testing in pediatric ophthalmology.

Authors:  Arlene V Drack; Scott R Lambert; Edwin M Stone
Journal:  Am J Ophthalmol       Date:  2010-01       Impact factor: 5.258

Review 8.  Congenital Microcoria: Clinical Features and Molecular Genetics.

Authors:  Clémentine Angée; Brigitte Nedelec; Elisa Erjavec; Jean-Michel Rozet; Lucas Fares Taie
Journal:  Genes (Basel)       Date:  2021-04-22       Impact factor: 4.096

Review 9.  Cone rod dystrophies.

Authors:  Christian P Hamel
Journal:  Orphanet J Rare Dis       Date:  2007-02-01       Impact factor: 4.123

10.  Union makes strength: a worldwide collaborative genetic and clinical study to provide a comprehensive survey of RD3 mutations and delineate the associated phenotype.

Authors:  Isabelle Perrault; Alejandro Estrada-Cuzcano; Irma Lopez; Susanne Kohl; Shiqiang Li; Francesco Testa; Renate Zekveld-Vroon; Xia Wang; Esther Pomares; Jean Andorf; Nisrine Aboussair; Sandro Banfi; Nathalie Delphin; Anneke I den Hollander; Catherine Edelson; Ralph Florijn; Marc Jean-Pierre; Corinne Leowski; Andre Megarbane; Cristina Villanueva; Blanca Flores; Arnold Munnich; Huanan Ren; Ditta Zobor; Arthur Bergen; Rui Chen; Frans P M Cremers; Roser Gonzalez-Duarte; Robert K Koenekoop; Francesca Simonelli; Edwin Stone; Bernd Wissinger; Qingjiong Zhang; Josseline Kaplan; Jean-Michel Rozet
Journal:  PLoS One       Date:  2013-01-07       Impact factor: 3.240
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