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Genetic Disorders

Citations 21-30 of 188 total displayed.

Past content (since May 1998):

Ophthalmic Molecular Genetics
CYP1B1 and MYOC Mutations in 116 Chinese Patients With Primary Congenital Glaucoma
Yuhong Chen; Deke Jiang; Long Yu; Bradley Katz; Kang Zhang; Bo Wan; Xinghuai Sun
Arch Ophthalmol 2008; 126: 1443-1447. [Abstract] [Full text] [PDF] [ eFigure and eTables ]  

Small Case Series
Multimodal Fundus Imaging in Foveal Hypoplasia: Combined Scanning Laser Ophthalmoscope Imaging and Spectral-Domain Optical Coherence Tomography
Peter Charbel Issa; Michael Foerl; Hans-Martin Helb; Hendrik P. N. Scholl; Frank G. Holz
Arch Ophthalmol 2008; 126: 1463-1465. [Extract] [Full text] [PDF] [ VIDEO SUPPLEMENT ]  

Ophthalmic Molecular Genetics
Association of a Novel Mutation in the Retinol Dehydrogenase 12 (RDH12) Gene With Autosomal Dominant Retinitis Pigmentosa
John H. Fingert; Kean Oh; Mina Chung; Todd E. Scheetz; Jeaneen L. Andorf; Rebecca M. Johnson; Val C. Sheffield; Edwin M. Stone
Arch Ophthalmol 2008; 126: 1301-1307. [Abstract] [Full text] [PDF]  

Small Case Series
Familial Retinoblastoma With Unilateral and Unifocal Involvement in 2 Families
Shaden Sarafzadeh; Zélia M. Corrêa; James J. Augsburger
Arch Ophthalmol 2008; 126: 1308-1309. [Extract] [Full text] [PDF]  

Ophthalmic Molecular Genetics
Phenotypic Expression of a PRPF8 Gene Mutation in a Large African American Family
Saloni Walia; Gerald A. Fishman; Jana Zernant-Rajang; Kairi Raime; Rando Allikmets
Arch Ophthalmol 2008; 126: 1127-1132. [Abstract] [Full text] [PDF]  

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]  

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]  

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