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Genetic Disorders

Citations 81-90 of 188 total displayed.

Past content (since May 1998):

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]  

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]  

Photo Essays
Outer Retinal Corrugations in X-Linked Juvenile Retinoschisis
Anita Agarwal; Usha Sathish Rao
Arch Ophthalmol 2007; 125: 278-279. [Extract] [Full text] [PDF]  

Photo Essays
Classic Features of Multiple Endocrine Neoplasia Type 2B
Jern Yee Chen; Deepa A. Taranath; Angela J. Chappell; Amy E. McMellon; Jamie E. Craig
Arch Ophthalmol 2007; 125: 280. [Extract] [Full text] [PDF]  

Editorials
Ophthalmic Genetics: At the Dawn of Discovery
Leslie Hyman; Barbara Klein; Barbara Nemesure; Janey Wiggs
Arch Ophthalmol 2007; 125: 9-10. [Extract] [Full text] [PDF] [ Glossary ]  

Special Articles
The Quest for Genes Causing Complex Traits in Ocular Medicine: Successes, Interpretations, and Challenges
Sudha K. Iyengar
Arch Ophthalmol 2007; 125: 11-18. [Abstract] [Full text] [PDF]  

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