Ophthalmic Genetics, Volume 23, Issue 1 (2002)

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Ophthalmic Genetics, Volume 23, Issue 1 (2002)

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Research Article

Article
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
Published online: 08 Jul 2009
AbstractforClinical characterization, linkage analysis, and PRPC8 mutation analysis of a family with autosomal dominant retinitis pigmentosa type 13 (RP13) | References | PDF (159.7 KB)
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Article
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
Published online: 08 Jul 2009
AbstractforThe e4 allele of apolipoprotein E gene is a potential risk factor for the severity of macular edema in type 2 diabetic Mexican patients | References | PDF (81.7 KB)
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Article
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
Published online: 08 Jul 2009
AbstractforSolitary retinal capillary hemangioma: Lack of genetic evidence for von Hippel-Lindau disease | References | PDF (69.2 KB)
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Article
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
Published online: 08 Jul 2009
AbstractforProgressive autosomal dominant optic atrophy and sensorineural hearing loss in a Turkish family | References | PDF (80.7 KB)
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Article
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
Published online: 08 Jul 2009
AbstractforColobomatous microphthalmia and orbital neuroglial cyst: Case report | References | PDF (154.1 KB)
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Article
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
Published online: 08 Jul 2009
AbstractforA 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 | References | PDF (90.3 KB)
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Article
Visual improvement in Leber congenital amaurosis and the CRX genotype
Robert K. Koenekoop, Magali Loyer, Olga Dembinska & Raquel Beneish
Pages: 49-59
Published online: 08 Jul 2009
AbstractforVisual improvement in Leber congenital amaurosis and the CRX genotype | References | PDF (159.2 KB)
  • 54 Views
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Article
A computer-based register for inherited retinal dystrophies in Southern Africa
M.T. Rebello, L.J. Greenberg & R.S. Ramesar
Pages: 61-65
Published online: 08 Jul 2009
AbstractforA computer-based register for inherited retinal dystrophies in Southern Africa | References | PDF (44.1 KB)
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Article
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
Published online: 08 Jul 2009
First Page PreviewforInvestigation of the prevalence of the myocilin Q368STOP mutation in Ugandan glaucoma patients | References | PDF (43.7 KB)
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