Literature DB >> 13616783

Amaurosis congenita (Leber).

J SCHAPPERT-KIMMIJSER, H E HENKES, J VAN DEN BOSCH.   

Abstract

Entities:  

Keywords:  BLINDNESS/in infant and child

Mesh：

Year:  1959        PMID： 13616783     DOI： 10.1001/archopht.1959.00940090213003

Source DB:  PubMed          Journal:  AMA Arch Ophthalmol        ISSN： 0096-6339


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  25 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

2.  Congenital nystagmus: a clinical perspective in infancy.

Authors:  S S Gelbart; C S Hoyt
Journal:  Graefes Arch Clin Exp Ophthalmol       Date:  1988       Impact factor: 3.117

3.  Progression of phenotype in Leber's congenital amaurosis with a mutation at the LCA5 locus.

Authors:  M D Mohamed; N C Topping; H Jafri; Y Raashed; M A McKibbin; C F Inglehearn
Journal:  Br J Ophthalmol       Date:  2003-04       Impact factor: 4.638

4.  Gene therapy using self-complementary Y733F capsid mutant AAV2/8 restores vision in a model of early onset Leber congenital amaurosis.

Authors:  Cristy A Ku; Vince A Chiodo; Sanford L Boye; Andrew F X Goldberg; Tiansen Li; William W Hauswirth; Visvanathan Ramamurthy
Journal:  Hum Mol Genet       Date:  2011-08-31       Impact factor: 6.150

5.  Neurological abnormalities in congenital amaurosis of Leber. Review of 30 cases.

Authors:  M J Vaizey; M D Sanders; K C Wybar; J Wilson
Journal:  Arch Dis Child       Date:  1977-05       Impact factor: 3.791

6.  Light prevents exogenous 11-cis retinal from maintaining cone photoreceptors in chromophore-deficient mice.

Authors:  Jie Fan; Rosalie K Crouch; Masahiro Kono
Journal:  Invest Ophthalmol Vis Sci       Date:  2011-04-14       Impact factor: 4.799

Review 7.  Retinal dystrophy and macular coloboma.

Authors:  J R Heckenlively; S G Foxman; E S Parelhoff
Journal:  Doc Ophthalmol       Date:  1988 Mar-Apr       Impact factor: 2.379

8.  Comprehensive analysis of genetic variations in strictly-defined Leber congenital amaurosis with whole-exome sequencing in Chinese.

Authors:  Shi-Yuan Wang; Qi Zhang; Xiang Zhang; Pei-Quan Zhao
Journal:  Int J Ophthalmol       Date:  2016-09-18       Impact factor: 1.779

9.  Leber's congenital amaurosis--a new syndrome with a cardiomyopathy.

Authors:  I M Russell-Eggitt; D S Taylor; P T Clayton; A Garner; A Kriss; J F Taylor
Journal:  Br J Ophthalmol       Date:  1989-04       Impact factor: 4.638

10.  A syndrome of congenital retinal dystrophy and saccade palsy--a subset of Leber's amaurosis.

Authors:  A T Moore; D S Taylor
Journal:  Br J Ophthalmol       Date:  1984-06       Impact factor: 4.638
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