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Genetic Disorders
Citations 131-140 of 188 total displayed.
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Past content
(since May 1998):
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- Clinical Sciences
The US Twin Study of Age-Related Macular Degeneration: Relative Roles of Genetic and Environmental Influences
- Johanna M. Seddon; Jennifer Cote; William F. Page; Steven H. Aggen; Michael C. Neale
Arch Ophthalmol 2005; 123: 321-327.
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- Ophthalmic Molecular Genetics
Axenfeld-Rieger Anomaly: A Novel Mutation in the Forkhead Box C1 (FOXC1) Gene in a 4-Generation Family
- Bruno Mortemousque; Patrizia Amati-Bonneau; François Couture; Rodolphe Graffan; Stéphane Dubois; Joseph Colin; Dominique Bonneau; Jean Morissette; Didier Lacombe; Vincent Raymond
Arch Ophthalmol 2004; 122: 1527-1533.
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- 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.
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- 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.
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- 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.
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- 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.
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- 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.
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- 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.
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- Clinical Sciences
Pathophysiology of the Optic Neuropathy Associated With Friedreich Ataxia
- Claron D. Alldredge; Christopher R. Schlieve; Neil R. Miller; Leonard A. Levin
Arch Ophthalmol 2003; 121: 1582-1585.
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- Ophthalmic Molecular Genetics
Novel Mutations in the CHST6 Gene Associated With Macular Corneal Dystrophy in Southern India
- John F. Warren; Anthony J. Aldave; M. Srinivasan; Eugene J. Thonar; Abha B. Kumar; Vicky Cevallos; John P. Whitcher; Todd P. Margolis
Arch Ophthalmol 2003; 121: 1608-1612.
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