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Genetics

Citations 171-180 of 255 total displayed.

Past content (since May 1998):

Photo Essays
Five-Year Evolution of Basal Laminar Drusen Combined With Vitelliform Macular Detachment
Isabelle Meunier; Salomon Y. Cohen; Christophe Debibie; Gabriel Quentel
Arch Ophthalmol 2004; 122: 1566. [Extract] [Full text] [PDF]  

Clinicopathologic Reports, Case Reports, and Small Case Series
Unusual Phenotype of an Individual With the R124C Mutation in the TGFBI Gene
Naoyuki Morishige; Tai-ichiro Chikama; Yoshitsugu Ishimura; Teruo Nishida; Mutsuo Takahashi; Yukihiko Mashima
Arch Ophthalmol 2004; 122: 1224-1227. [Extract] [Full text] [PDF]  

Ophthalmic Molecular Genetics
The Phenotype of Leber Congenital Amaurosis in Patients With AIPL1 Mutations
Sharola Dharmaraj; Bart P. Leroy; Melanie M. Sohocki; Robert K. Koenekoop; Isabelle Perrault; Khalid Anwar; Shagufta Khaliq; R. Summathi Devi; David G. Birch; Elaine De Pool; Natalio Izquierdo; Lionel Van Maldergem; Mohammad Ismail; Annette M. Payne; Graham E. Holder; Shomi S. Bhattacharya; Alan C. Bird; Josseline Kaplan; Irene H. Maumenee
Arch Ophthalmol 2004; 122: 1029-1037. [Abstract] [Full text] [PDF]  

Ophthalmic Molecular Genetics
X-Linked High Myopia Associated With Cone Dysfunction
Terri L. Young; Samir S. Deeb; Shawn M. Ronan; Andrew T. Dewan; Alison B. Alvear; Genaro S. Scavello; Prasuna C. Paluru; Marcia S. Brott; Takaaki Hayashi; Ann M. Holleschau; Nancy Benegas; Marianne Schwartz; Larry D. Atwood; William S. Oetting; Thomas Rosenberg; Arno G. Motulsky; Richard A. King
Arch Ophthalmol 2004; 122: 897-908. [Abstract] [Full text] [PDF]  

Laboratory Sciences
Rapid Identification of Germline Mutations in Retinoblastoma by Protein Truncation Testing
Tony Tsai; Lilia Fulton; Barbara J. Smith; Rachel L. Mueller; Gustavo A. Gonzalez; Marita S. Uusitalo; Joan M. O'Brien
Arch Ophthalmol 2004; 122: 239-248. [Abstract] [Full text] [PDF]  

Ophthalmic Molecular Genetics
The Role of Apolipoprotein E Gene Polymorphisms in Primary Open-angle Glaucoma
Thomas Ressiniotis; Philip G. Griffiths; Michael Birch; Sharon Keers; Patrick F. Chinnery
Arch Ophthalmol 2004; 122: 258-261. [Abstract] [Full text] [PDF]  

Clinicopathologic Reports, Case Reports, and Small Case Series
Diagnosis of Microsporidia Keratitis by Polymerase Chain Reaction
Michael S. Conners; Terri S. Gibler; Russell N. Van Gelder
Arch Ophthalmol 2004; 122: 283-284. [Extract] [Full text] [PDF]  

Ophthalmic Molecular Genetics
Novel Mutations in the Cellular Retinaldehyde–Binding Protein Gene (RLBP1) Associated With Retinitis Punctata Albescens: Evidence of Interfamilial Genetic Heterogeneity and Fundus Changes in Heterozygotes
Gerald A. Fishman; Mary Flynn Roberts; Deborah J. Derlacki; Jonna L. Grimsby; Hiroyuki Yamamoto; Dror Sharon; Koji M. Nishiguchi; Thaddeus P. Dryja
Arch Ophthalmol 2004; 122: 70-75. [Abstract] [Full text] [PDF]  

Clinicopathologic Reports, Case Reports, and Small Case Series
Isolated Vitreoretinal Amyloidosis in the Absence of Transthyretin Mutations
Fina C. Barouch; Merrill D. Benson; Shizuo Mukai
Arch Ophthalmol 2004; 122: 123-125. [Extract] [Full text] [PDF]  

Ophthalmic Molecular Genetics
Hereditary Hyperferritinemia-Cataract Syndrome: Prevalence, Lens Morphology, Spectrum of Mutations, and Clinical Presentations
Jamie E. Craig; J. Benedict Clark; Janet L. McLeod; Mark A. Kirkland; Glenys Grant; James E. Elder; Michael G. Toohey; Lionel Kowal; Helen F. Savoia; Celia Chen; Sarah Roberts; M. Gabriela Wirth; David A. Mackey
Arch Ophthalmol 2003; 121: 1753-1761. [Abstract] [Full text] [PDF]  

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