Ophthalmic Genetics, Volume 33, Issue 3 (2012)

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Ophthalmic Genetics, Volume 33, Issue 3 (2012)

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Original Article

Article
Phenotype and Genotype of Patients with Autosomal Recessive Bestrophinopathy
Ian M. MacDonald, H. V. Gudiseva, Adda Villanueva, Mark Greve, Rafael Caruso & Radha Ayyagari
Pages: 123-129
Published online: 02 Aug 2011
AbstractforPhenotype and Genotype of Patients with Autosomal Recessive Bestrophinopathy | Full Text | References | PDF (729.6 KB)
  • 471 Views
  • 28 CrossRef citations
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Research Reports

Article
Lack of Association Between LOXL1 Gene Polymorphisms and Primary Open Angle Glaucoma in the Saudi Arabian Population
Khaled K. Abu-Amero, Essam A. Osman, Mohammad T. Azad, R. Rand Allingham, Michael A. Hauser & Saleh A. Al-Obeidan
Pages: 130-133
Published online: 21 Apr 2011
AbstractforLack of Association Between LOXL1 Gene Polymorphisms and Primary Open Angle Glaucoma in the Saudi Arabian Population | Full Text | References | PDF (551.6 KB)
  • 111 Views
  • 9 CrossRef citations
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Article
Identification of the p. R116H mutation in a Chinese Family with Novel Variable Cataract Phenotype: Evidence for a Mutational Hot Spot in αA-Crystallin Gene
Binbin Wang, Kai Jie Wang, Si Quan Zhu, Jing Wang & Xu Ma
Pages: 134-138
Published online: 04 Jan 2012
AbstractforIdentification of the p. R116H mutation in a Chinese Family with Novel Variable Cataract Phenotype: Evidence for a Mutational Hot Spot in αA-Crystallin Gene | Full Text | References | PDF (659.3 KB)
  • 137 Views
  • 3 CrossRef citations
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Article
An rs9621532 Variant Near the TIMP3 Gene is not Associated with Neovascular Age-Related Macular Degeneration and Polypoidal Choroidal Vasculopathy in a Chinese Han Population
Renpan Zeng, Feng Wen, Xiongze Zhang, Chengguo Zuo, Meng Li, Hui Chen & Kunfang Wu
Pages: 139-143
Published online: 15 Dec 2011
AbstractforAn rs9621532 Variant Near the TIMP3 Gene is not Associated with Neovascular Age-Related Macular Degeneration and Polypoidal Choroidal Vasculopathy in a Chinese Han Population | Full Text | References | PDF (561.6 KB)
  • 239 Views
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Article
Association of CFH Y402H Polymorphism with Both Forms of Advanced Age-Related Macular Degeneration in Turkish Patients
Didem Yücel, Murat Yılmaz, Ali Hakan Durukan & Rıza Köksal Özgül
Pages: 144-149
Published online: 09 Apr 2012
AbstractforAssociation of CFH Y402H Polymorphism with Both Forms of Advanced Age-Related Macular Degeneration in Turkish Patients | Full Text | References | PDF (569.4 KB)
  • 184 Views
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Article
Mutational Analysis of SDCCAG8 in Bardet-Biedl Syndrome Patients with Renal Involvement and Absent Polydactyly
Gail Billingsley, Ajoy Vincent, Catherine Deveault & Elise Héon
Pages: 150-154
Published online: 24 May 2012
AbstractforMutational Analysis of SDCCAG8 in Bardet-Biedl Syndrome Patients with Renal Involvement and Absent Polydactyly | Full Text | References | PDF (846.8 KB)
  • 343 Views
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Case Reports

Case Report
Chiasmatic Infiltration Secondary to Late Malignant Transformation of Retinoma
Asimina Mataftsi, Leonidas Zografos, Aubin Balmer, Sylvie Uffer, Roger Stupp, Robert C. Janzer, Alessia Pica, Daniel F. Schorderet & Francis L. Munier
Pages: 155-158
Published online: 28 Apr 2011
AbstractforChiasmatic Infiltration Secondary to Late Malignant Transformation of Retinoma | Full Text | References | PDF (752.3 KB)
  • 123 Views
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Case Report
Ophthalmologic Abnormalities in Mowat-Wilson Syndrome and a Mutation in ZEB2
Michelle Ariss, Kristina Natan, Neil Friedman & Elias I. Traboulsi
Pages: 159-160
Published online: 09 Apr 2012
AbstractforOphthalmologic Abnormalities in Mowat-Wilson Syndrome and a Mutation in ZEB2 | Full Text | References | PDF (621.2 KB)
  • 420 Views
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Case Report
Ophthalmic and Systemic Findings in Interstitial Deletions of Chromosome 14q: A Case Feport and Literature Review
Zachary D. Pearce, Patrick J. Droste, Thomas M. Aaberg Jr & Adam S. Hassan
Pages: 161-166
Published online: 09 Apr 2012
AbstractforOphthalmic and Systemic Findings in Interstitial Deletions of Chromosome 14q: A Case Feport and Literature Review | Full Text | References | PDF (739.5 KB)
  • 256 Views
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Mutation Reports

GPR143 Gene Mutation Analysis In Pediatric Patients With Albinism
Katarina Trebušak Podkrajšek, Branka Stirn Kranjc, Tinka Hovnik, Jernej Kovač & Tadej Battelino
Pages: 167-170
Published online: 09 Apr 2012
AbstractforGPR143 Gene Mutation Analysis In Pediatric Patients With Albinism | Full Text | References | PDF (604.1 KB)
  • 277 Views
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Ten SNPs of PAX6, Lumican, and MYOC genes are not associated with high myopia in Han Chinese
Lili Dai, Ying Li, Chun Yu Du, Ling Min Gong, Cheng Cheng Han, Xiao Guang Li, Pan Fan & Song Bin Fu
Pages: 171-178
Published online: 18 Jul 2012
AbstractforTen SNPs of PAX6, Lumican, and MYOC genes are not associated with high myopia in Han Chinese | Full Text | References | PDF (770.4 KB)
  • 257 Views
  • 15 CrossRef citations
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