Book Chapter
Clinical and Molecular Genetic Aspects of Leber’s Congenital Amaurosis
Robert Henderson, Birgit Lorenz and Anthony Moore
Essentials in Ophthalmology, 2006, Pediatric Ophthalmology, Neuro-Ophthalmology, Genetics, Pages 157-177
Book Chapter
Leber Congenital Amaurosis
A Hereditary Childhood Form of Blindness and a Model to Elucidate Retinal Physiology and Development
Robert K. Koenekoop
Ophthalmology Research, 2007, Retinal Degenerations, II, Pages 61-90
Book Chapter
Leber Congenital Amaurosis: Survey of the Genetic Heterogeneity, Refinement of the Clinical Definition and Phenotype-Genotype Correlations as a Strategy for Molecular Diagnosis
Clinical and molecular survey in LCA
Sylvain Hanein, Isabelle Perrault, Sylvie Gerber, Gaëlle Tanguy and Jean-Michel Rozet, et al.
Advances in Experimental Medicine and Biology, 1, Volume 572, Retinal Degenerative Diseases, Part I, Pages 15-20
Journal Article
Potential involvement of more than one locus in trait manifestation for individuals with Leber congenital amaurosis
Wojciech Wiszniewski, Richard Alan Lewis, David W. Stockton, Jianlan Peng and Graeme Mardon, et al.
Human Genetics, 2011, Volume 129, Number 3, Pages 319-327
Journal Article
RPGR-containing protein complexes in syndromic and non-syndromic retinal degeneration due to ciliary dysfunction
Carlos A. Murga-Zamalloa, Anand Swaroop and Hemant Khanna
Journal of Genetics, 2009, Volume 88, Number 4, Pages 399-407
Journal Article
Psychophysical assessment of low visual function in patients with retinal degenerative diseases (RDDs) with the Diagnosys full-field stimulus threshold (D-FST)
M. Klein and D. G. Birch
Documenta Ophthalmologica, 2009, Volume 119, Number 3, Pages 217-224
Book Chapter
Biochemical Function of the LCA Linked Protien, Aryl Hydrocarbon Receptor Interacting Protein Like-1 (AIPL1)
Role of AIPL1 in retina
Matthew Schwartz, James Hurley and Visvanathan Ramamurthy
Advances in Experimental Medicine and Biology, 1, Volume 572, Retinal Degenerative Diseases, Part III, Pages 89-94
Journal Article
Guanylate cyclases and associated activator proteins in retinal disease
David M. Hunt, Prateek Buch and Michel Michaelides
Molecular and Cellular Biochemistry, 2010, Volume 334, Numbers 1-2, Pages 157-168
Book Chapter
Genetics of Ocular Vascular Disease
Jacquie Greenberg, Ari Ziskind and Stephen P. Daiger
Ophthalmology Research, 2006, Ocular Angiogenesis, I, Pages 173-188
Book Chapter
The Chaperone Function of the LCA Protein AIPL1
AIPL1 chaperone function
Jacqueline van der Spuy and Michael Cheetham
Advances in Experimental Medicine and Biology, 1, Volume 572, Retinal Degenerative Diseases, Part VIII, Pages 471-476