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Ophthalmic Genetics
, Volume
23
Issue 1 2002
Official Journal of the International Society for Genetic Eye Disease and Retinoblastoma
ISSN:
1744-5094 (electronic) 1381-6810 (paper)
Publication Frequency:
4 issues per year
Subjects:
Genetics
;
Ophthalmology
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Publisher:
Informa Healthcare
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Clinical characterization, linkage analysis, and PRPC8 mutation analysis of a family with autosomal dominant retinitis pigmentosa type 13 (RP13)
J. J. C. van Lith-Verhoeven; S. D. van der Velde-Visser; M. M. Sohocki; A. F. Deutman; H. M. A. Brink; F. P. M. Cremers; C. B. Hoyng
Pages 1 – 12
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The e4 allele of apolipoprotein E gene is a potential risk factor for the severity of macular edema in type 2 diabetic Mexican patients
Arturo Santos; Mario L. Salguero; Carmen Gurrola; Francisco Muñoz; Enrique Roig-Melo; Arturo Panduro
Pages 13 – 19
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Solitary retinal capillary hemangioma: Lack of genetic evidence for von Hippel-Lindau disease
Arun D. Singh; N. Nina Ahmad; Carol L. Shields; Jerry A. Shields
Pages 21 – 27
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Progressive autosomal dominant optic atrophy and sensorineural hearing loss in a Turkish family
Serap Özden; Füsun Düzcan; Bernd Wollnik; G. Ozan Çetin; Türker Sahiner; Ismet Bayramoglu; Memnune Yüksel-Apak; Hüseyin Bagci
Pages 29 – 36
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Colobomatous microphthalmia and orbital neuroglial cyst: Case report
M. Lourdes Garcia; Everardo Castro; Jill A. Foster; W. Richard Green; Elias I. Traboulsi
Pages 37 – 42
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A novel mutation in the FOXL2 gene in a patient with blepharophimosis syndrome: Differential role of the polyalanine tract in the development of the ovary and the eyelid
Kenjiro Kosaki; Tsutomu Ogata; Rika Kosaki; Seiji Sato; Nobutake Matsuo
Pages 43 – 47
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Visual improvement in Leber congenital amaurosis and the CRX genotype
Robert K. Koenekoop; Magali Loyer; Olga Dembinska; Raquel Beneish
Pages 49 – 59
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A computer-based register for inherited retinal dystrophies in Southern Africa
M. T. Rebello; L. J. Greenberg; R. S. Ramesar
Pages 61 – 65
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Investigation of the prevalence of the myocilin Q368STOP mutation in Ugandan glaucoma patients
Michèle M. Sale; Liesel M. FitzGerald; Kenneth Kagame; Irmela Erdmann; Jamie E. Craig; Joanne L. Dickinson; Richard L. Cooper
Pages 67 – 69
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