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Genetic Disorders

Citations 1-10 of 170 total displayed.

Most recent content (1 Nov 2008):

Ophthalmic Molecular Genetics
Analysis of Major Alleles Associated With Age-Related Macular Degeneration in Patients With Multifocal Choroiditis: Strong Association With Complement Factor H
Daniela C. Ferrara; Joanna E. Merriam; K. Bailey Freund; Richard F. Spaide; Beatriz S. Takahashi; Inna Zhitomirsky; Howard F. Fine; Lawrence A. Yannuzzi; Rando Allikmets
Arch Ophthalmol 2008; 126: 1562-1566. [Abstract] [Full text] [PDF]  

Past content (since May 1998):

Clinical Sciences
Correlation of Nonsense and Frameshift Mutations With Severity of Retinal Abnormalities in Neurofibromatosis 2
Matthias Feucht; Lan Kluwe; Victor-Felix Mautner; Gisbert Richard
Arch Ophthalmol 2008; 126: 1376-1380. [Abstract] [Full text] [PDF]  

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]  

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