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Genetic Disorders
Citations 161-170 of 188 total displayed.
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Past content
(since May 1998):
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- Correspondence
Lens Dislocation in Marfan Syndrome and UV-B Light Exposure
- Nitin Sachdev; Denis Wakefield; Minas T. Coroneo
Arch Ophthalmol 2003; 121: 585.
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- Epidemiology and Biostatistics
Family Score as an Indicator of Genetic Risk of Primary Open-Angle Glaucoma
- Caroline A. A. Hulsman; Jeanine J. Houwing-Duistermaat; Cornelia M. van Duijn; Roger Wolfs; Petra H. Borger; Albert Hofman; Paulus T. V. M. de Jong
Arch Ophthalmol 2002; 120: 1726-1731.
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- Ophthalmic Molecular Genetics
Paternal Uniparental Heterodisomy With Partial Isodisomy of Chromosome 1 in a Patient With Retinitis Pigmentosa Without Hearing Loss and a Missense Mutation in the Usher Syndrome Type II Gene USH2A
- Carlo Rivolta; Eliot L. Berson; Thaddeus P. Dryja
Arch Ophthalmol 2002; 120: 1566-1571.
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- Clinical Sciences
Electroretinographic Abnormalities in Parents of Patients With Leber Congenital Amaurosis Who Have Heterozygous GUCY2D Mutations
- Robert K. Koenekoop; Gerald A. Fishman; Alessandro Iannaccone; Hany Ezzeldin; Maria L. Ciccarelli; Alfonso Baldi; Janet S. Sunness; Andrew J. Lotery; Monica M. Jablonski; Steven J. Pittler; Irene Maumenee
Arch Ophthalmol 2002; 120: 1325-1330.
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- Ophthalmic Molecular Genetics
The Phenotype in Norwegian Patients With Bardet-Biedl Syndrome With Mutations in the BBS4 Gene
- Ruth Riise; Kristina Tornqvist; Alan F. Wright; Kirk Mykytyn; Val C. Sheffield
Arch Ophthalmol 2002; 120: 1364-1367.
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- Clinical Sciences
(Neonatal) Retinoblastoma in the First Month of Life
- David H. Abramson; Ted T. Du; Katherine L. Beaverson
Arch Ophthalmol 2002; 120: 738-742.
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- Clinical Sciences
Symmetry of Bilateral Lesions in Geographic Atrophy in Patients With Age-Related Macular Degeneration
- Caren Bellmann; Jork Jorzik; Georg Spital; Kristina Unnebrink; Daniel Pauleikhoff; Frank G. Holz
Arch Ophthalmol 2002; 120: 579-584.
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- Ophthalmic Molecular Genetics
Novel Mutations in the NRL Gene and Associated Clinical Findings in Patients With Dominant Retinitis Pigmentosa
- Margaret M. DeAngelis; Jonna L. Grimsby; Michael A. Sandberg; Eliot L. Berson; Thaddeus P. Dryja
Arch Ophthalmol 2002; 120: 369-375.
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- Ophthalmic Molecular Genetics
Novel Mutation in the TIMP3 Gene Causes Sorsby Fundus Dystrophy
- Samuel G. Jacobson; Artur V. Cideciyan; Jean Bennett; Ronald M. Kingsley; Val C. Sheffield; Edwin M. Stone
Arch Ophthalmol 2002; 120: 376-379.
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- Ophthalmic Molecular Genetics
Clinical Course and Visual Function in a Family With Mutations in the RPE65 Gene
- Joost Felius; Debra A. Thompson; Naheed W. Khan; Eve L. Bingham; Jeffrey A. Jamison; Jennifer A. Kemp; Paul A. Sieving
Arch Ophthalmol 2002; 120: 55-61.
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