- ►bmj.com JC Booij, RJ Florijn, JB ten Brink, W Loves, … - British Medical Journal, 2005 - jmg.bmj.com Results: All three groups of patients showed typical combinations of eye signs
associated with retinitis pigmentosa: pale optic discs, narrow arterioles,
pigmentary changes, and nystagmus. Mutations were found in 34% of patients: ... Cited by 11 - Related articles - All 8 versions
MO Sweeney, TL McGee, EL Berson, TP … - Molecular Vision, 2007 - pubmedcentral.nih.gov This is an open-access article distributed under the terms of the Creative
Commons Attribution License, which permits unrestricted use, distribution, and
reproduction in any medium, provided the original work is properly cited. Cited by 1 - Related articles - All 4 versions
[CITATION] Functional analyses of RetGC1 missense mutations identified in Leber's congenital amaurosis
S Gerber, I Perrault, S Hanein, F Barbet, D … - Invest Ophthalmol Vis Sci, 2000 Cited by 2 - Related articles
[CITATION] Novel mutations in the retinal guanylyl cyclase gene in new populations of patients with …
M Loyer, AL Pina, E El Hilali, A Vallelado, … - Invest Ophthalmol Vis Sci, 1998 Cited by 2 - Related articles
JA GALVIN, GA FISHMAN, EM STONE, RK … - Retina, 2005 - journals.lww.com From *Department of Ophthalmology and Visual Sciences, University of Illinois at
Chicago, Chicago, Illinois; †Howard Hughes Medical Institute, Department of
Ophthalmology, University of Iowa, Iowa City, Iowa; and ‡McGill Ocular ... Cited by 16 - Related articles - BL Direct - All 3 versions
ML Williams, JE Coleman, SE Haire, TS … - PLoS Med, 2006 - medicine.plosjournals.org Leber congenital amaurosis (LCA) is a genetically heterogeneous group of retinal
diseases that cause congenital blindness in infants and children. Mutations in
the GUCY2D gene that encodes retinal guanylate cyclase–1 (retGC1) were ... Cited by 12 - Related articles - Cached - All 15 versions
I Perrault, JM Rozet, S Gerber, I Ghazi, D … - European journal of human genetics: EJHG, 2000 - ncbi.nlm.nih.gov Leber's congenital amaurosis (LCA) is the earliest and most severe form of all
inherited retinal dystrophies responsible for congenital blindness. Genetic
heterogeneity of LCA has been suspected since the report by Waardenburg of ... Cited by 42 - Related articles - BL Direct
I Perrault, S Hanein, S Gerber, B Lebail, P … - Human mutation, 2005 - interscience.wiley.com Patients carrying mutations in the retinal guanylate cyclase (GUCY2D) gene were
reported to be constantly affected with a particular form of Leber congenital
amaurosis (LCA) defined as a congenital stationary cone-rod dystrophy with ... Cited by 6 - Related articles - All 3 versions
A Sénéchal, G Humbert, MO Surget, C … - American journal of ophthalmology, 2006 - Elsevier We screened by denaturing-high performance liquid chromatography (D-HPLC) and
direct sequencing all coding exons of LRAT and RDH10 in 216 patients, including
134 with simplex or multiplex retinitis pigmentosa and 82 with various ... Cited by 7 - Related articles - All 13 versions
- ►iovs.org S Yzer, GA Fishman, J Racine, S Al-Zuhaibi, … - Investigative ophthalmology & visual science, 2006 - ARVO 1 From the McGill Ocular Genetics Centre, Division of Ophthalmology, and the 5
McGill Visual Physiology Laboratory, Montreal Children's Hospital Research
Institute, McGill University Health Centre, Montreal, Quebec, Canada; the 4 ... Cited by 7 - Related articles - BL Direct - All 5 versions
