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Genetic Counseling/ Testing/ Therapy
Citations 61-70 of 77 total displayed.
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Past content
(since Jan 1999):
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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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- Clinical Sciences
Assessment of Visual Function in Patients With Gyrate Atrophy Who Are Considered Candidates for Gene Replacement
- Rafael C. Caruso; Robert B. Nussenblatt; Karl G. Csaky; David Valle; Muriel I. Kaiser-Kupfer
Arch Ophthalmol 2001; 119: 667-669.
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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
Mutations in the CRB1 Gene Cause Leber Congenital Amaurosis
- Andrew J. Lotery; Samuel G. Jacobson; Gerald A. Fishman; Richard G. Weleber; Anne B. Fulton; P. Namperumalsamy; Elise Héon; Alex V. Levin; Sandeep Grover; Justin R. Rosenow; Kelly K. Kopp; Val C. Sheffield; Edwin M. Stone
Arch Ophthalmol 2001; 119: 415-420.
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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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- Ophthalmic Molecular Genetics
Description of a New Mutation in Rhodopsin, Pro23Ala, and Comparison With Electroretinographic and Clinical Characteristics of the Pro23His Mutation
- Kean T. Oh; Richard G. Weleber; Andrew Lotery; Dawn M. Oh; Andrea M. Billingslea; Edwin M. Stone
Arch Ophthalmol 2000; 118: 1269-1276.
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- Ophthalmic Molecular Genetics
A Clinically Variant Fibrosis Syndrome in a Turkish Family Maps to the CFEOM1 Locus on Chromosome 12
- Emin C. Sener; Bjorn A. Lee; Banu Turgut; A. Nurten Akarsu; Elizabeth C. Engle
Arch Ophthalmol 2000; 118: 1090-1097.
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- Ophthalmic Molecular Genetics
Phenotypic Expression of Juvenile X-linked Retinoschisis in Swedish Families With Different Mutations in the XLRS1 Gene
- Louise C. Eksandh; Vesna Ponjavic; Radha Ayyagari; Eve L. Bingham; Kelaginamane T. Hiriyanna; Sten Andréasson; Berndt Ehinger; Paul A. Sieving
Arch Ophthalmol 2000; 118: 1098-1104.
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- Mechanisms of Ophthalmic Disease
Myocilin and Glaucoma: A TIGR by the Tail?
- Douglas H. Johnson
Arch Ophthalmol 2000; 118: 974-978.
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