Genetics

Citations 1-10 of 253 total displayed.

Most recent content (1 Oct 2009):

Epidemiology
Complement Factor H and the Bilaterality of Age-Related Macular Degeneration: The Blue Mountains Eye Study

Amy Shih-I Pai; Paul Mitchell; Elena Rochtchina; Sudha Iyengar; Jie Jin Wang
Arch Ophthalmol 2009; 127: 1339-1344. [Abstract] [Full text] [PDF]  

Ophthalmic Molecular Genetics
Typing of ARMS2 and CFH in Age-Related Macular Degeneration: Case-Control Study and Assessment of Frequency in the Italian Population

Federico Ricci; Stefania Zampatti; Francesca D’Abbruzzi; Filippo Missiroli; Claudia Martone; Tiziana Lepre; Ilenia Pietrangeli; Cecilia Sinibaldi; Cristina Peconi; Giuseppe Novelli; Emiliano Giardina
Arch Ophthalmol 2009; 127: 1368-1372. [Abstract] [Full text] [PDF]  

Ophthalmic Molecular Genetics
Clinical and Genetic Profile of Avellino Corneal Dystrophy in 2 Families From North India

Preeti Paliwal; Jaya Gupta; Radhika Tandon; Arundhati Sharma; Rasik B. Vajpayee
Arch Ophthalmol 2009; 127: 1373-1376. [Abstract] [Full text] [PDF]  

Past content (since May 1998):

Research Letters
Novel Compound Heterozygous Mutations in CERKL Cause Autosomal Recessive Retinitis Pigmentosa in a Nonconsanguineous Chinese Family

Zhaohui Tang; Zhaoxiang Wang; Zhi Wang; Tie Ke; Qing Kenneth Wang; Mugen Liu
Arch Ophthalmol 2009; 127: 1077-1078. [Extract] [Full text] [PDF]  

Clinical Sciences
Increased Prevalence of Autoimmunity in Patients With White Spot Syndromes and Their Family Members

Robert B. Pearlman; Pamela R. Golchet; Marni G. Feldmann; Lawrence A. Yannuzzi; Michael J. Cooney; Jennifer E. Thorne; James C. Folk; Edwin H. Ryan; Anita Agarwal; Kathleen C. Barnes; Kevin G. Becker; Lee M. Jampol
Arch Ophthalmol 2009; 127: 869-874. [Abstract] [Full text] [PDF]  

Ophthalmic Molecular Genetics
Progression of Retinal Pigment Epithelial Alterations During Long-term Follow-up in Female Carriers of Choroideremia and Report of a Novel CHM Mutation

Agnes B. Renner; Britta S. Fiebig; Elke Cropp; Bernhard H. F. Weber; Ulrich Kellner
Arch Ophthalmol 2009; 127: 907-912. [Abstract] [Full text] [PDF]  

Ophthalmic Molecular Genetics
Phenotypic Variability Due to a Novel Glu292Lys Variation in Exon 8 of the BEST1 Gene Causing Best Macular Dystrophy

Elliott H. Sohn; Peter J. Francis; Jacque L. Duncan; Richard G. Weleber; David A. Saperstein; Donald F. Farrell; Edwin M. Stone
Arch Ophthalmol 2009; 127: 913-920. [Abstract] [Full text] [PDF]  

Ophthalmic Molecular Genetics
Novel PRPF31 and PRPH2 Mutations and Co-occurrence of PRPF31 and RHO Mutations in Chinese Patients With Retinitis Pigmentosa

King Poo Lim; Shea Ping Yip; Suk Chun Cheung; Kam Wah Leung; Stephen T. S. Lam; Chi Ho To
Arch Ophthalmol 2009; 127: 784-790. [Abstract] [Full text] [PDF]  

Small Case Series
In Vivo Confocal Microscopy of the Cornea in Darier-White Disease

Neil Lagali; Anette Dellby; Per Fagerholm
Arch Ophthalmol 2009; 127: 816-818. [Extract] [Full text] [PDF]  

Clinical Sciences
Assessment of 193 Candidate Genes for Retinopathy in African Americans With Type 1 Diabetes

Monique S. Roy; D. Michael Hallman; Yi-Ping Fu; Mirta Machado; Craig L. Hanis
Arch Ophthalmol 2009; 127: 605-612. [Abstract] [Full text] [PDF]  

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