Literature DB >> 10090910

Different functional outcome of RetGC1 and RPE65 gene mutations in Leber congenital amaurosis.

I Perrault, J M Rozet, I Ghazi, C Leowski, M Bonnemaison, S Gerber, D Ducroq, A Cabot, E Souied, J L Dufier, A Munnich, J Kaplan.   

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Year:  1999        PMID： 10090910      PMCID： PMC1377849          DOI： 10.1086/302335

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


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  23 in total

1.  Retinal dystrophies caused by mutations in RPE65: assessment of visual functions.

Authors:  C P Hamel; J M Griffoin; L Lasquellec; C Bazalgette; B Arnaud
Journal:  Br J Ophthalmol       Date:  2001-04       Impact factor: 4.638

2.  Histopathology and functional correlations in a patient with a mutation in RPE65, the gene for retinol isomerase.

Authors:  Vera L Bonilha; Mary E Rayborn; Yong Li; Gregory H Grossman; Eliot L Berson; Joe G Hollyfield
Journal:  Invest Ophthalmol Vis Sci       Date:  2011-10-28       Impact factor: 4.799

Review 3.  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 4.  AAV-mediated gene therapy in mouse models of recessive retinal degeneration.

Authors:  J-J Pang; L Lei; X Dai; W Shi; X Liu; A Dinculescu; J H McDowell
Journal:  Curr Mol Med       Date:  2012-03       Impact factor: 2.222

Review 5.  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 6.  Leber congenital amaurosis due to RPE65 mutations and its treatment with gene therapy.

Authors:  Artur V Cideciyan
Journal:  Prog Retin Eye Res       Date:  2010-04-24       Impact factor: 21.198

7.  Retinal dystrophy due to paternal isodisomy for chromosome 1 or chromosome 2, with homoallelism for mutations in RPE65 or MERTK, respectively.

Authors:  Debra A Thompson; Christina L McHenry; Yun Li; Julia E Richards; Mohammad I Othman; Eberhard Schwinger; Douglas Vollrath; Samuel G Jacobson; Andreas Gal
Journal:  Am J Hum Genet       Date:  2001-11-27       Impact factor: 11.025

8.  Retinal dehydrogenase 12 (RDH12) mutations in leber congenital amaurosis.

Authors:  Isabelle Perrault; Sylvain Hanein; Sylvie Gerber; Fabienne Barbet; Dominique Ducroq; Helene Dollfus; Christian Hamel; Jean-Louis Dufier; Arnold Munnich; Josseline Kaplan; Jean-Michel Rozet
Journal:  Am J Hum Genet       Date:  2004-08-20       Impact factor: 11.025

9.  Mutations in SPATA7 cause Leber congenital amaurosis and juvenile retinitis pigmentosa.

Authors:  Hui Wang; Anneke I den Hollander; Yalda Moayedi; Abuduaini Abulimiti; Yumei Li; Rob W J Collin; Carel B Hoyng; Irma Lopez; Emad B Abboud; Ali A Al-Rajhi; Molly Bray; Richard Alan Lewis; James R Lupski; Graeme Mardon; Robert K Koenekoop; Rui Chen
Journal:  Am J Hum Genet       Date:  2009-03-05       Impact factor: 11.025

10.  Mutation survey of known LCA genes and loci in the Saudi Arabian population.

Authors:  Yumei Li; Hui Wang; Jianlan Peng; Richard A Gibbs; Richard Alan Lewis; James R Lupski; Graeme Mardon; Rui Chen
Journal:  Invest Ophthalmol Vis Sci       Date:  2008-10-20       Impact factor: 4.799
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