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Genetics

Citations 191-200 of 255 total displayed.

Past content (since May 1998):

Ophthalmic Molecular Genetics
Glaucoma Phenotype in Pedigrees With the Myocilin Thr377Met Mutation
David A. Mackey; Danielle L. Healey; John H. Fingert; Michael A. Coote; Tiffany L. Wong; Colleen H. Wilkinson; Paul J. McCartney; Julian L. Rait; A. Pauline de Graaf; Edwin M. Stone; Jamie E. Craig
Arch Ophthalmol 2003; 121: 1172-1180. [Abstract] [Full text] [PDF]  

Ophthalmic Molecular Genetics
Lack of Association of Mutations in Optineurin With Disease in Patients With Adult-onset Primary Open-angle Glaucoma
Janey L. Wiggs; Josette Auguste; R. Rand Allingham; Jason D. Flor; Margaret A. Pericak-Vance; Kathryn Rogers; Karen R. LaRocque; Felicia L. Graham; Bob Broomer; Elizabeth Del Bono; Jonathan L. Haines; Michael Hauser
Arch Ophthalmol 2003; 121: 1181-1183. [Abstract] [Full text] [PDF]  

Ophthalmic Molecular Genetics
Genomewide Homozygosity Mapping and Molecular Analysis of a Candidate Gene Located on 22q13 (Fibulin-1) in a Previously Undescribed Vitreoretinal Dystrophy
Maike Weigell-Weber; Gian-Marco Sarra; Dieter Kotzot; Lodewijk Sandkuijl; Elmar Messmer; Martin Hergersberg
Arch Ophthalmol 2003; 121: 1184-1188. [Abstract] [Full text] [PDF]  

Ophthalmic Molecular Genetics
Retinal and Optic Disc Atrophy Associated With a CACNA1F Mutation in a Japanese Family
Makoto Nakamura; Sei Ito; Chang-Hua Piao; Hiroko Terasaki; Yozo Miyake
Arch Ophthalmol 2003; 121: 1028-1033. [Abstract] [Full text] [PDF]  

Ophthalmic Molecular Genetics
Mutations in the Myocilin Gene in Families With Primary Open-angle Glaucoma and Juvenile Open-angle Glaucoma
Mirella Bruttini; Ilaria Longo; Paolo Frezzotti; Rossella Ciappetta; Alessandro Randazzo; Nicola Orzalesi; Elena Fumagalli; Aldo Caporossi; Renato Frezzotti; Alessandra Renieri
Arch Ophthalmol 2003; 121: 1034-1038. [Abstract] [Full text] [PDF]  

Clinicopathologic Reports, Case Reports, and Small Case Series
A New Syndrome of Hereditary Congenital Corneal Opacities, Cornea Guttata, and Corectopia
Jeong-Min Hwang; Daniel C. Chung; Elias I. Traboulsi
Arch Ophthalmol 2003; 121: 1053-1054. [Extract] [Full text] [PDF]  

Clinicopathologic Reports, Case Reports, and Small Case Series
Long-term Fundus Changes Due to Fundus Albipunctatus Associated With Mutations in the RDH5 Gene
Keigo Sekiya; Mitsuru Nakazawa; Hiroshi Ohguro; Tomoaki Usui; Naoyuki Tanimoto; Haruki Abe
Arch Ophthalmol 2003; 121: 1057-a-1059-a. [Extract] [Full text] [PDF]  

Clinicopathologic Reports, Case Reports, and Small Case Series
Management of Retinal Detachment in Osteogenesis Imperfecta
Dean Eliott; Kourous A. Rezai; A. Bawa Dass; John Lewis
Arch Ophthalmol 2003; 121: 1062-1064. [Extract] [Full text] [PDF]  

Clinicopathologic Reports, Case Reports, and Small Case Series
Pseudotumor Cerebri Induced by All-trans Retinoic Acid Treatment of Acute Promyelocytic Leukemia
Michael Colucciello
Arch Ophthalmol 2003; 121: 1064-1065. [Extract] [Full text] [PDF]  

Clinical Sciences
Phenotype of Retinitis Pigmentosa Associated With the Ser50Thr Mutation in the NRL Gene
David A. R. Bessant; Graham E. Holder; Frederick W. Fitzke; Annette M. Payne; Shomi S. Bhattacharya; Alan C. Bird
Arch Ophthalmol 2003; 121: 793-802. [Abstract] [Full text] [PDF]  

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