Ophthalmic Genetics, Volume 33, Issue 1 (2012)

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Ophthalmic Genetics, Volume 33, Issue 1 (2012)

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Research Reports

Article
Ocular manifestations of Noonan syndrome
Lenina da Rocha Pitta Marin, Felipe Theodoro Bezerra Gaspar Carvalho da Silva, Luís Carlos Ferreira de Sá, Amanda Salem Brasil, Alexandre Pereira, Isabel Mosca Furquim, Chong Ae Kim & Débora Romeo Bertola
Pages: 1-5
Published online: 04 Aug 2011
AbstractforOcular manifestations of Noonan syndrome | Full Text | References | PDF (540.9 KB)
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Article
Risk assessment of recurrence in sporadic retinoblastoma using a molecular-based algorithm
Hoai Viet Tran, Daniel F. Schorderet, Marie-Claire Gaillard, Aubin Balmer & Francis L. Munier
Pages: 6-11
Published online: 21 Nov 2011
AbstractforRisk assessment of recurrence in sporadic retinoblastoma using a molecular-based algorithm | Full Text | References | PDF (755.3 KB)
  • 238 Views
  • 7 CrossRef citations
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Article
Prevalence of high-risk alleles in the LOXL1 gene and its association with pseudoexfoliation syndrome and exfoliation glaucoma in a Latin American population
Martha Jaimes, David Rivera-Parra, Antonio Miranda-Duarte, Gerardo Valdés & Juan Carlos Zenteno
Pages: 12-17
Published online: 04 Oct 2011
AbstractforPrevalence of high-risk alleles in the LOXL1 gene and its association with pseudoexfoliation syndrome and exfoliation glaucoma in a Latin American population | Full Text | References | PDF (546.2 KB)
  • 269 Views
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Article
Differentiating Alström from Bardet-Biedl syndrome (BBS) using systematic ciliopathy genes sequencing
K. Aliferis, S. Hellé, G. Gyapay, S. Duchatelet, C. Stoetzel, J.-L. Mandel & H. Dollfus
Pages: 18-22
Published online: 17 Oct 2011
AbstractforDifferentiating Alström from Bardet-Biedl syndrome (BBS) using systematic ciliopathy genes sequencing | Full Text | References | PDF (585 KB)
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Article
Relationship of endothelial nitric oxide synthase (eNOS) gene polymorphisms with diabetic retinopathy in Caucasians with type 2 diabetes
Kátia G. Santos, Daisy Crispim, Luís H. Canani, Paula T. Ferrugem, Jorge L. Gross & Israel Roisenberg
Pages: 23-27
Published online: 21 Oct 2011
AbstractforRelationship of endothelial nitric oxide synthase (eNOS) gene polymorphisms with diabetic retinopathy in Caucasians with type 2 diabetes | Full Text | References | PDF (548.3 KB)
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Mutation Report

Article
Vitreous amyloidosis in two large mainland Chinese kindreds resulting from transthyretin variant Lys35Thr and Leu55Arg
Da Long, Jun Zeng, Ling Qian Wu, Luo Sheng Tang, Hui Ling Wang & Hao Wang
Pages: 28-33
Published online: 15 Aug 2011
AbstractforVitreous amyloidosis in two large mainland Chinese kindreds resulting from transthyretin variant Lys35Thr and Leu55Arg | Full Text | References | PDF (846.7 KB)
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Case Reports

Case Report
Cone-rod dystrophy associated with amelogenesis imperfecta in a child with neurofibromatosis type 1
Ditta Zobor, Dieter H. Kaufmann, Petra Weckerle, Alexandra Sauer, Bernd Wissinger, Helmut Wilhelm & Susanne Kohl
Pages: 34-38
Published online: 05 Jul 2011
AbstractforCone-rod dystrophy associated with amelogenesis imperfecta in a child with neurofibromatosis type 1 | Full Text | References | PDF (672.3 KB)
  • 285 Views
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Case Report
Congenital Macular Dystrophy, Corpus Callosum Agenesis, Hippocampi Hypoplasia – A Novel Neuro-Ophthalmic Syndrome: Case Report
Pierre Bitoun, Eva Pipiras & Florence Rigaudiere
Pages: 39-43
Published online: 11 Aug 2011
AbstractforCongenital Macular Dystrophy, Corpus Callosum Agenesis, Hippocampi Hypoplasia – A Novel Neuro-Ophthalmic Syndrome: Case Report | Full Text | References | PDF (673.8 KB)
  • 186 Views
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Case Report
PAX6 3′ deletion in a family with aniridia
Anna Wawrocka, Bartlomiej Budny, Szymon Debicki, Aleksander Jamsheer, Anna Sowinska & Maciej Robert Krawczynski
Pages: 44-48
Published online: 10 Oct 2011
AbstractforPAX6 3′ deletion in a family with aniridia | Full Text | References | PDF (773.9 KB)
  • 356 Views
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Case Report
Disruption in Bruch membrane in patients with Stargardt disease
Sung Pyo Park, Stanley Chang, Rando Allikmets, R. Theodore Smith, Tomas R. Burke, Emily Gregory-Roberts & Stephen H. Tsang
Pages: 49-52
Published online: 07 Nov 2011
AbstractforDisruption in Bruch membrane in patients with Stargardt disease | Full Text | References | PDF (737 KB)
  • 290 Views
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Letter to the Journal

Letter
A linear regression model to differentiate axial myopia from non-axial myopia
Weihua Meng, Jacqueline Butterworth, Francois Malecaze & Patrick Calvas
Pages: 53-55
Published online: 21 Nov 2011
First Page PreviewforA linear regression model to differentiate axial myopia from non-axial myopia | Full Text | References | PDF (620.1 KB)
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