Ophthalmic Genetics, Volume 23, Issue 4 (2002)

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Ophthalmic Genetics, Volume 23, Issue 4 (2002)

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Research Article

Article
Evidence of clinical and genetic heterogeneity in autosomal dominant congenital cerulean cataracts
Latifa Hilal, Emeline Nandrot, Mohamed Belmekki, Mohamed Chefchaouni, Siham El Bacha, Bouchra Benazzouz, Yassir Hajaji, Olivier Gribouval, Jean-Louis Dufier, Marc Abitbol & Amina Berraho
Pages: 199-208
Published online: 08 Jul 2009
AbstractforEvidence of clinical and genetic heterogeneity in autosomal dominant congenital cerulean cataracts | References | PDF (173.8 KB)
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Article
A pooled case-control study of the apolipoprotein E (APOE) gene in age-related maculopathy
Silke Schmidt, Caroline C. W. Klaver, Ann M. Saunders, Eric A. Postel, Monica A. De La Paz, Anita Agarwal, Kent W. Small, Nitin Udar, John M. Ong, Meenal V. Chalukya, Anthony Nesburn, M. Cristina Kenney, Ruth M. Domurath, Molly Hogan, Tammy S. Mah, Yvette P. Conley, Robert E. Ferrell, Daniel E. Weeks, Paulus T.V.M. de Jong, Cornelia M. van Duijn, Jonathan L. Haines, Margaret A. Pericak-Vance & Michael B. Gorin
Pages: 209-223
Published online: 08 Jul 2009
AbstractforA pooled case-control study of the apolipoprotein E (APOE) gene in age-related maculopathy | References | PDF (128.3 KB)
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Article
A novel mutation disrupting the cytoplasmic domain of CRB1 in a large consanguineous family of Palestinian origin affected with Leber congenital amaurosis
Sylvie Gerber, Isabelle Perrault, Sylvain Hanein, Stavit Shalev, Joel Zlotogora, Fabienne Barbet, Dominique Ducroq, Jean-Louis Dufier, Arnold Munnich, Jean-Michel Rozet & Josseline Kaplan
Pages: 225-235
Published online: 08 Jul 2009
AbstractforA novel mutation disrupting the cytoplasmic domain of CRB1 in a large consanguineous family of Palestinian origin affected with Leber congenital amaurosis | References | PDF (146.9 KB)
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Article
TGFBI gene transcript is transforming growth factor-ß1-responsive and cell density-dependent in a human corneal epithelial cell line
Ming X. Wang, Francis L. Munier, Kaoru Araki-Saski & Daniel F. Schorderet
Pages: 237-245
Published online: 08 Jul 2009
AbstractforTGFBI gene transcript is transforming growth factor-ß1-responsive and cell density-dependent in a human corneal epithelial cell line | References | PDF (106.6 KB)
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Article
Corneal decompensation in a boy with Kearns-Sayre syndrome
F.N. Boonstra, I. Claerhout, F.A. Hol, G.P.A. Smit, J.J.M. van Collenburg & F.M. Meire
Pages: 247-251
Published online: 08 Jul 2009
AbstractforCorneal decompensation in a boy with Kearns-Sayre syndrome | References | PDF (62.7 KB)
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Article
Fanconi anemia and primary cataracts: first case
M. Merriman, J. Mora & J. McGaughran
Pages: 253-255
Published online: 08 Jul 2009
AbstractforFanconi anemia and primary cataracts: first case | References | PDF (39.5 KB)
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Article
Subject Index
Pages: 257-258
Published online: 08 Jul 2009
CitationforSubject Index | PDF (27.8 KB)
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Article
Author Index
Pages: 259-260
Published online: 08 Jul 2009
CitationforAuthor Index | PDF (26.6 KB)
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Article
Cumulative Table of Contents
Pages: 261-262
Published online: 08 Jul 2009
CitationforCumulative Table of Contents | PDF (41.8 KB)
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