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Genetic Disorders
Citations 31-40 of 188 total displayed.
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Past content
(since May 1998):
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- Letters
Detection of Facial Hypotonia and Diagnosis of Facioscapulohumeral Dystrophy—Reply
- Carol L. Shields; Jonathan Zahler; Jerry A. Shields
Arch Ophthalmol 2008; 126: 746.
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- Letters
Classification of the Corneal Dystrophies
- Anthony J. Aldave
Arch Ophthalmol 2008; 126: 747-a.
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- Research Letters
Synergistic Convergence in Congenital Extraocular Muscle Misinnervation
- Christina Pieh; Ansgar Berlis; Wolf A. Lagrèze
Arch Ophthalmol 2008; 126: 574-576.
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- Clinical Sciences
Macular Dystrophy Associated With the A3243G Mitochondrial DNA Mutation: Distinct Retinal and Associated Features, Disease Variability, and Characterization of Asymptomatic Family Members
- Michel Michaelides; Sharon A. Jenkins; Doris-Eva Bamiou; Mary G. Sweeney; Mary B. Davis; Linda Luxon; Alan C. Bird; Pamela P. Rath
Arch Ophthalmol 2008; 126: 320-328.
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- Clinical Sciences
Age at Onset Curves of Retinitis Pigmentosa
- Motokazu Tsujikawa; Yuko Wada; Marie Sukegawa; Miki Sawa; Fumi Gomi; Kohji Nishida; Yasuo Tano
Arch Ophthalmol 2008; 126: 337-340.
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- Ophthalmic Molecular Genetics
A Novel Variant of Combined Granular-Lattice Corneal Dystrophy Associated With the Met619Lys Mutation in the TGFBI Gene
- Anthony J. Aldave; Vivek S. Yellore; Baris Sonmez; Nirit Bourla; Andrew K. Salem; M. Ali Khan; Sylvia A. Rayner; Ben J. Glasgow
Arch Ophthalmol 2008; 126: 371-377.
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- Ophthalmic Molecular Genetics
Discordant Phenotypes in Fraternal Twins Having an Identical Mutation in Exon ORF15 of the RPGR Gene
- Saloni Walia; Gerald A. Fishman; Anand Swaroop; Kari E. H. Branham; Martin Lindeman; Mohammad Othman; Richard G. Weleber
Arch Ophthalmol 2008; 126: 379-384.
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- Ophthalmic Molecular Genetics
Novel and Recurrent KIF21A Mutations in Congenital Fibrosis of the Extraocular Muscles Type 1 and 3
- Shasha Lu; Chen Zhao; Kanxing Zhao; Ningdong Li; Catharina Larsson
Arch Ophthalmol 2008; 126: 388-394.
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- Ophthalmic Molecular Genetics
New Mutation, P575L, in the GUCY2D Gene in a Family With Autosomal Dominant Progressive Cone Degeneration
- Kent W. Small; Rosamaria Silva-Garcia; Nitin Udar; Eddy V. Nguyen; John R. Heckenlively
Arch Ophthalmol 2008; 126: 397-403.
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- Controversies
Cytogenetics in the Management of Uveal Melanoma: Are We There Yet?
- Dennis M. Robertson
Arch Ophthalmol 2008; 126: 409-410.
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