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Genetic Disorders

Citations 1-10 of 163 total displayed.

Most recent content (1 Jun 2008):

Clinical Sciences
Retinal Morphological Changes of Patients With X-linked Retinoschisis Evaluated by Fourier-Domain Optical Coherence Tomography
Christina Gerth; Robert J. Zawadzki; John S. Werner; Elise Héon
Arch Ophthalmol 2008; 126: 807-811. [Abstract] [Full text] [PDF]  

Commentaries
Adaptive Optics Retinal Imaging: Applications for Studying Retinal Degeneration
Joseph Carroll
Arch Ophthalmol 2008; 126: 857-858. [Extract] [Full text] [PDF]  

Past content (since May 1998):

Ophthalmic Molecular Genetics
Identification of Mutations in the SLC4A11 Gene in Patients With Recessive Congenital Hereditary Endothelial Dystrophy
Boomiraj Hemadevi; Reiner A. Veitia; Muthiah Srinivasan; Jambulingam Arunkumar; Namperumalsamy Venkatesh Prajna; Corinne Lesaffre; Periasamy Sundaresan
Arch Ophthalmol 2008; 126: 700-708. [Abstract] [Full text] [PDF]  

Ophthalmic Molecular Genetics
Novel SOX2 Mutation Associated With Ocular Coloboma in a Chinese Family
Panfeng Wang; Xiaoling Liang; Junhui Yi; Qingjiong Zhang
Arch Ophthalmol 2008; 126: 709-713. [Abstract] [Full text] [PDF]  

Letters
Detection of Facial Hypotonia and Diagnosis of Facioscapulohumeral Dystrophy
Veeral S. Sheth; Michael J. Shapiro
Arch Ophthalmol 2008; 126: 745-b-746-b. [Extract] [Full text] [PDF]  

Letters
Detection of Facial Hypotonia and Diagnosis of Facioscapulohumeral Dystrophy—Reply
Carol L. Shields; Jonathan Zahler; Jerry A. Shields
Arch Ophthalmol 2008; 126: 746. [Extract] [Full text] [PDF]  

Letters
Classification of the Corneal Dystrophies
Anthony J. Aldave
Arch Ophthalmol 2008; 126: 747-a. [Extract] [Full text] [PDF]  

Research Letters
Synergistic Convergence in Congenital Extraocular Muscle Misinnervation
Christina Pieh; Ansgar Berlis; Wolf A. Lagrèze
Arch Ophthalmol 2008; 126: 574-576. [Extract] [Full text] [PDF] [ eFigures ]  

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. [Abstract] [Full text] [PDF] [ Supplementary Content ]  

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. [Abstract] [Full text] [PDF]  

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