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Genetics

Citations 101-110 of 255 total displayed.

Past content (since May 1998):

Ophthalmic Molecular Genetics
New Phenotype Associated With an Arg116Cys Mutation in the CRYAA Gene: Nuclear Cataract, Iris Coloboma, and Microphthalmia
Francis Beby; Claire Commeaux; Muriel Bozon; Philippe Denis; Patrick Edery; Laurette Morlé
Arch Ophthalmol 2007; 125: 213-216. [Abstract] [Full text] [PDF]  

Ophthalmic Molecular Genetics
Novel USH2A Mutations in Israeli Patients With Retinitis Pigmentosa and Usher Syndrome Type 2
Nadia Kaiserman; Alexey Obolensky; Eyal Banin; Dror Sharon
Arch Ophthalmol 2007; 125: 219-224. [Abstract] [Full text] [PDF]  

Ophthalmic Molecular Genetics
Retinal Phenotype–Genotype Correlation of Pediatric Patients Expressing Mutations in the Norrie Disease Gene
Wei-Chi Wu; Kimberly Drenser; Michael Trese; Antonio Capone Jr; Wendy Dailey
Arch Ophthalmol 2007; 125: 225-230. [Abstract] [Full text] [PDF]  

Ophthalmic Molecular Genetics
Retinopathy in Danon Disease
Daniel F. Schorderet; Sandra Cottet; Johannes Alexander Lobrinus; François-Xavier Borruat; Aubin Balmer; Francis L. Munier
Arch Ophthalmol 2007; 125: 231-236. [Abstract] [Full text] [PDF]  

Ophthalmic Molecular Genetics
Genotype-Phenotype Correlation in von Hippel-Lindau Disease With Retinal Angiomatosis
Wai T. Wong; Elvira Agrón; Hanna R. Coleman; George F. Reed; Karl Csaky; James Peterson; Gladys Glenn; W. Marston Linehan; Paul Albert; Emily Y. Chew
Arch Ophthalmol 2007; 125: 239-245. [Abstract] [Full text] [PDF]  

Ophthalmic Molecular Genetics
Nitric Oxide Synthase and Superoxide Dismutase Gene Polymorphisms in Behçet Disease
Kumiko Nakao; Yasushi Isashiki; Shozo Sonoda; Eisuke Uchino; Yuka Shimonagano; Taiji Sakamoto
Arch Ophthalmol 2007; 125: 246-251. [Abstract] [Full text] [PDF]  

Clinical Sciences
Molecular Testing for Hereditary Retinal Disease as Part of Clinical Care
Katy Downs; David N. Zacks; Rafael Caruso; Athanasios J. Karoukis; Kari Branham; Beverly M. Yashar; Mark H. Haimann; Karmen Trzupek; Meira Meltzer; Delphine Blain; Julia E. Richards; Richard G. Weleber; John R. Heckenlively; Paul A. Sieving; Radha Ayyagari
Arch Ophthalmol 2007; 125: 252-258. [Abstract] [Full text] [PDF]  

Clinical Sciences
Novel Phenotypic and Genotypic Findings in X-Linked Retinoschisis
Stephen H. Tsang; Veronika Vaclavik; Alan C. Bird; Anthony G. Robson; Graham E. Holder
Arch Ophthalmol 2007; 125: 259-267. [Abstract] [Full text] [PDF]  

Laboratory Sciences
Use of Mitochondrial Antioxidant Defenses for Rescue of Cells With a Leber Hereditary Optic Neuropathy–Causing Mutation
Xiaoping Qi; Liang Sun; William W. Hauswirth; Alfred S. Lewin; John Guy
Arch Ophthalmol 2007; 125: 268-272. [Abstract] [Full text] [PDF]  

Clinicopathologic Reports, Case Reports, and Small Case Series
Catastrophic Visual Loss in a Patient With Friedreich Ataxia
Neroli Porter; Susan M. Downes; Carl Fratter; Philip Anslow; Andrea H. Németh
Arch Ophthalmol 2007; 125: 273-274. [Extract] [Full text] [PDF]  

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