Ophthalmic Genetics, Volume 34, Issue 3 (2013)

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Ophthalmic Genetics, Volume 34, Issue 3 (2013)

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Research Reports

Article
Molecular Genetics of Achromatopsia in Newfoundland Reveal Genetic Heterogeneity, Founder Effects and the First Cases of Jalili Syndrome in North America
Lance Doucette, Jane Green, Coleman Black, Jeremy Schwartzentruber, Gordon J. Johnson, Dante Galutira & Terry-Lynn Young
Pages: 119-129
Published online: 30 Jan 2013
AbstractforMolecular Genetics of Achromatopsia in Newfoundland Reveal Genetic Heterogeneity, Founder Effects and the First Cases of Jalili Syndrome in North America | Full Text | References | PDF (1.4 MB)
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Research Article

Article
Genetic Polymorphisms Associated with Retinal Vein Occlusion: A Greek Case-control Study and Meta-analysis
Georgia G. Yioti, Orestis A. Panagiotou, Georgios A. Vartholomatos, Nikolaos I. Kolaitis, Chrisavgi N. Pappa, Evangelos Evangelou & Maria I. Stefaniotou
Pages: 130-139
Published online: 04 Jan 2013
AbstractforGenetic Polymorphisms Associated with Retinal Vein Occlusion: A Greek Case-control Study and Meta-analysis | Full Text | References | PDF (401.1 KB) | Supplemental
  • 242 Views
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Article
Superoxide Dismutase Gene Polymorphisms in Patients with Age-related Cataract
Dragana Celojevic, Staffan Nilsson, Anders Behndig, Gunnar Tasa, Erkki Juronen, Jan-Olof Karlsson, Henrik Zetterberg, Anne Petersen & Madeleine Zetterberg
Pages: 140-145
Published online: 04 Jan 2013
AbstractforSuperoxide Dismutase Gene Polymorphisms in Patients with Age-related Cataract | Full Text | References | PDF (114.8 KB)
  • 187 Views
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Article
The Association of Age-related Maculopathy Susceptibility 2 (ARMS2) and Complement Factor H (CFH) Variants with Two Angiographic Subtypes of Polypoidal Choroidal Vasculopathy
Akiko Miki, Shigeru Honda, Naoshi Kondo & Akira Negi
Pages: 146-150
Published online: 04 Jan 2013
AbstractforThe Association of Age-related Maculopathy Susceptibility 2 (ARMS2) and Complement Factor H (CFH) Variants with Two Angiographic Subtypes of Polypoidal Choroidal Vasculopathy | Full Text | References | PDF (191.3 KB)
  • 214 Views
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Article
Gene–Gene Interactions of CFH and LOC387715/ARMS2 with Korean Exudative Age-related Macular Degeneration Patients
Yeong Hoon Kim, Hyun-Seok Kim, Jee Won Mok & Choun-Ki Joo
Pages: 151-159
Published online: 04 Jan 2013
AbstractforGene–Gene Interactions of CFH and LOC387715/ARMS2 with Korean Exudative Age-related Macular Degeneration Patients | Full Text | References | PDF (149.3 KB)
  • 219 Views
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Article
Common Single Nucleotide Polymorphisms and Keratoconus in the Han Chinese Population
Yani Wang, Tianbo Jin, Xuehui Zhang, Wei Wei, Yan Cui, Tingting Geng, Qianping Liu, Jing Gao, Ming Liu, Chao Chen, Changning Zhang & Xiuping Zhu
Pages: 160-166
Published online: 04 Jan 2013
AbstractforCommon Single Nucleotide Polymorphisms and Keratoconus in the Han Chinese Population | Full Text | References | PDF (265.6 KB)
  • 193 Views
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Article
Electroretinographic Findings in a Patient with Congenital Stationary Night Blindness Due to a Novel NYX Mutation
J. Jason McAnany, Kenneth R. Alexander, Nalin M. Kumar, Hongyu Ying, Anastasios Anastasakis & Gerald A. Fishman
Pages: 167-173
Published online: 04 Jan 2013
AbstractforElectroretinographic Findings in a Patient with Congenital Stationary Night Blindness Due to a Novel NYX Mutation | Full Text | References | PDF (466.1 KB)
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Case Report

Case Report
A New Case of Keratoconus Associated with Williams-Beuren Syndrome
Melissa Machado Viana, Maria Frasson, Letícia Lima Leão, Martin Stofanko, Higgor Gonçalves-Dornelas, Pricila da Silva Cunha & Marcos José Burle de Aguiar
Pages: 174-177
Published online: 20 Nov 2012
AbstractforA New Case of Keratoconus Associated with Williams-Beuren Syndrome | Full Text | References | PDF (691.5 KB)
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Letters to the Journal

Letter
Unilateral Lisch Nodules in a 47-year-old Woman Without Other Stigmata of Neurofibromatosis Type I: An Example of Segmental Neurofibromatosis?
Francesco Nicita, Ludovico Iannetti, Alberto Spalice, Laura Papetti, Fabiana Ursitti, Enrico Properzi & Martino Ruggieri
Pages: 178-179
Published online: 03 Dec 2012
CitationforUnilateral Lisch Nodules in a 47-year-old Woman Without Other Stigmata of Neurofibromatosis Type I: An Example of Segmental Neurofibromatosis? | Full Text | References | PDF (317.2 KB)
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Free Access

Letter

Letter
Novel Homozygous CYP1B1 Deletion in Siblings with Primary Congenital Glaucoma
Kristy Damjanovich, Erin E. Baldwin, Tracey Lewis & Pinar Bayrak-Toydemir
Pages: 180-181
Published online: 06 Dec 2012
CitationforNovel Homozygous CYP1B1 Deletion in Siblings with Primary Congenital Glaucoma | Full Text | References | PDF (202.5 KB)
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Free Access

Erratum

Correction
Erratum
Page: 182
Published online: 26 Jun 2013
CitationforErratum | Full Text | PDF (61.6 KB)
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