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Genetic Disorders
Citations 171-180 of 188 total displayed.
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Past content
(since May 1998):
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- Ophthalmic Molecular Genetics
Molecular Characterization and Ophthalmic Investigation of a Large Family With Type 2A von Hippel–Lindau Disease
- Richard C. Allen; Andrew R. Webster; Ruifang Sui; Jeremiah Brown; Christine M. Taylor; Edwin M. Stone
Arch Ophthalmol 2001; 119: 1659-1665.
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- Ophthalmic Molecular Genetics
Autosomal Dominant Cone-Rod Dystrophy With Mutations in the Guanylate Cyclase 2D Gene Encoding Retinal Guanylate Cyclase-1
- Susan M. Downes; Annette M. Payne; Rosemary E. Kelsell; Frederick W. Fitzke; Graham E. Holder; David M. Hunt; Anthony T. Moore; Alan C. Bird
Arch Ophthalmol 2001; 119: 1667-1673.
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- Ophthalmic Molecular Genetics
Molecular and Clinical Evaluation of a Patient Hemizygous for TIGR/MYOC
- Janey L. Wiggs; Douglas Vollrath
Arch Ophthalmol 2001; 119: 1674-1678.
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- Mechanisms of Ophthalmologic Disease
Molecular Basis of Low-Penetrance Retinoblastoma
- J. William Harbour
Arch Ophthalmol 2001; 119: 1699-1704.
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- Ophthalmic Molecular Genetics
A Novel Gly35Ser Mutation in the RDH5 Gene in a Japanese Family With Fundus Albipunctatus Associated With Cone Dystrophy
- Yuko Wada; Toshiaki Abe; Hajime Sato; Makoto Tamai
Arch Ophthalmol 2001; 119: 1059-1063.
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- Epidemiology and Biostatistics
Association of Demographic, Familial, Medical, and Ocular Factors With Intraocular Pressure
- LeAnn M. Weih; Bickol N. Mukesh; Catherine A. McCarty; Hugh R. Taylor
Arch Ophthalmol 2001; 119: 875-880.
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- Ophthalmic Molecular Genetics
Variation of Codons 1961 and 2177 of the Stargardt Disease Gene Is Not Associated With Age-Related Macular Degeneration
- Robyn H. Guymer; Elise Héon; Andrew J. Lotery; Francis L. Munier; Daniel F. Schorderet; Paul N. Baird; Robyn J. McNeil; Heidi Haines; Val C. Sheffield; Edwin M. Stone
Arch Ophthalmol 2001; 119: 745-751.
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- Ophthalmic Molecular Genetics
Autosomal Dominant Stargardt-like Macular Dystrophy: Founder Effect and Reassessment of Genetic Heterogeneity
- Larry A. Donoso; Arcilee T. Frost; Edwin M. Stone; Richard G. Weleber; Ian M. MacDonald; Gregory S. Hageman; Gerhard W. Cibis; Robert Ritter III; Albert O. Edwards
Arch Ophthalmol 2001; 119: 564-570.
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- Ophthalmic Molecular Genetics
Ocular Phenotype of Bothnia Dystrophy, an Autosomal Recessive Retinitis Pigmentosa Associated With an R234W Mutation in the RLBP1 Gene
- Marie S. I. Burstedt; Kristina Forsman-Semb; Irina Golovleva; Tomas Janunger; Lillemor Wachtmeister; Ola Sandgren
Arch Ophthalmol 2001; 119: 260-267.
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- Clinical Sciences
Accuracy and Implications of a Reported Family History of Glaucoma: Experience From the Glaucoma Inheritance Study in Tasmania
- Andrew I. McNaught; Jennifer G. Allen; Danielle L. Healey; Paul J. McCartney; Michael A. Coote; Tiffany L. Wong; Jamie E. Craig; Catherine M. Green; Julian L. Rait; David A. Mackey
Arch Ophthalmol 2000; 118: 900-904.
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