Literature DB >> 9326927

Mutations in RPE65 cause Leber's congenital amaurosis.

F Marlhens, C Bareil, J M Griffoin, E Zrenner, P Amalric, C Eliaou, S Y Liu, E Harris, T M Redmond, B Arnaud, M Claustres, C P Hamel.   

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Year:  1997        PMID： 9326927     DOI： 10.1038/ng1097-139

Source DB:  PubMed          Journal:  Nat Genet        ISSN： 1061-4036            Impact factor:   38.330


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  204 in total

1.  Null RPGRIP1 alleles in patients with Leber congenital amaurosis.

Authors:  T P Dryja; S M Adams; J L Grimsby; T L McGee; D H Hong; T Li; S Andréasson; E L Berson
Journal:  Am J Hum Genet       Date:  2001-03-29       Impact factor: 11.025

2.  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

Review 3.  Molecular ophthalmology: an update on animal models for retinal degenerations and dystrophies.

Authors:  F Hafezi; C Grimm; B C Simmen; A Wenzel; C E Remé
Journal:  Br J Ophthalmol       Date:  2000-08       Impact factor: 4.638

4.  Mutations in a new photoreceptor-pineal gene on 17p cause leber congenital amaurosis. Nat gen 2000;24:79-83

Authors: 
Journal:  Am J Ophthalmol       Date:  2000-06       Impact factor: 5.258

5.  Leber congenital amaurosis and retinitis pigmentosa with Coats-like exudative vasculopathy are associated with mutations in the crumbs homologue 1 (CRB1) gene.

Authors:  A I den Hollander; J R Heckenlively; L I van den Born; Y J de Kok; S D van der Velde-Visser; U Kellner; B Jurklies; M J van Schooneveld; A Blankenagel; K Rohrschneider; B Wissinger; J R Cruysberg; A F Deutman; H G Brunner; E Apfelstedt-Sylla; C B Hoyng; F P Cremers
Journal:  Am J Hum Genet       Date:  2001-05-24       Impact factor: 11.025

Review 6.  Metabolism of carotenoids and retinoids related to vision.

Authors:  Johannes von Lintig
Journal:  J Biol Chem       Date:  2011-11-10       Impact factor: 5.157

7.  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

8.  An unusual retinal vascular morphology in connection with a novel AIPL1 mutation in Leber's congenital amaurosis.

Authors:  S Heegaard; T Rosenberg; M Preising; J U Prause; T Bek
Journal:  Br J Ophthalmol       Date:  2003-08       Impact factor: 4.638

9.  Rpe65 Leu450Met variant is associated with reduced levels of the retinal pigment epithelium lipofuscin fluorophores A2E and iso-A2E.

Authors:  So Ra Kim; Nathan Fishkin; Jian Kong; Koji Nakanishi; Rando Allikmets; Janet R Sparrow
Journal:  Proc Natl Acad Sci U S A       Date:  2004-07-26       Impact factor: 11.205

10.  Photoreceptor Outer Segment Isolation from a Single Canine Retina for RPE Phagocytosis Assay.

Authors:  Raghavi Sudharsan; Michael H Elliott; Natalia Dolgova; Gustavo D Aguirre; William A Beltran
Journal:  Adv Exp Med Biol       Date:  2018       Impact factor: 2.622
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