Ophthalmic Genetics, Volume 29, Issue 1 (2008)

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Ophthalmic Genetics, Volume 29, Issue 1 (2008)

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Research Article

Article
Developmental Basis of Nanophthalmos: MFRP Is Required for both Prenatal Ocular Growth and Postnatal Emmetropization
Olof H. Sundin, Sharola Dharmaraj, Imran A. Bhutto, Takuya Hasegawa, D. Scott McLeod, Carol A. Merges, Eduardo D. Silval, Irene H. Maumenee & Gerard A. Lutty
Pages: 1-9
Published online: 08 Jul 2009
AbstractforDevelopmental Basis of Nanophthalmos: MFRP Is Required for both Prenatal Ocular Growth and Postnatal Emmetropization | Full Text | References | PDF (2.3 MB)
  • 196 Views
  • 45 CrossRef citations
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Article
Association of VEGF Gene Polymorphisms with Diabetic Retinopathy in a South Indian Cohort
Satagopan Uthra, Rajiv Raman, Bickol N. Mukesh, Samuel A. Rajkumar, Padmaja Kumari R.Pradeep G. Paul, Praveena Lakshmipathy, Perumal Gnanamoorthy, Tarun Sharma, Catherine A. McCarty & Govindasamy Kumaramanickavel
Pages: 11-15
Published online: 08 Jul 2009
AbstractforAssociation of VEGF Gene Polymorphisms with Diabetic Retinopathy in a South Indian Cohort | Full Text | References | PDF (69.7 KB)
  • 157 Views
  • 37 CrossRef citations
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Article
Evidence for a Novel X-Linked Modifier Locus for Leber Hereditary Optic Neuropathy
Suma P. Shankar, John H. Fingert, Valerio Carelli, Maria L. Valentino, Terri M. King, Stephen P. Daiger, Solange R. Salomao, Adriana Berezovsky, Rubens Belfort Jr., Terri A. Braun, Val C. Sheffield, Alfredo A. Sadun & Edwin M. Stone
Pages: 17-24
Published online: 08 Jul 2009
AbstractforEvidence for a Novel X-Linked Modifier Locus for Leber Hereditary Optic Neuropathy | Full Text | References | PDF (5.8 MB)
  • 386 Views
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Article
Congential Fibrosis of the Extraocular Muscles Type I (CFEOM1) on the Arabian Peninsula
Arif O. Khan, Dania S. Khalil & Nada A. Al-Tassan
Pages: 25-28
Published online: 08 Jul 2009
AbstractforCongential Fibrosis of the Extraocular Muscles Type I (CFEOM1) on the Arabian Peninsula | Full Text | References | PDF (875.2 KB)
  • 62 Views
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Case Report

Article
Novel RDH5 Mutation in Family with Mother Having Fundus Albipunctatus and Three Children with Retinitis Pigmentosa
Chunxia Wang, Nobuo Nakanishi, Kentaro Ohishi, Akiko Hikoya, Kenro Koide, Miho Sato, Makoto Nakamura, Yoshihiro Hotta & Shinsei Minoshima
Pages: 29-32
Published online: 08 Jul 2009
AbstractforNovel RDH5 Mutation in Family with Mother Having Fundus Albipunctatus and Three Children with Retinitis Pigmentosa | Full Text | References | PDF (2.6 MB)
  • 124 Views
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Article
Asymptomatic Renal Cell Carcinoma as a Finding of Bardet Biedl Syndrome
Renzo A. Zaldivar, Matthew D. Neale, William E. Evans & Jose S. Pulido
Pages: 33-35
Published online: 08 Jul 2009
AbstractforAsymptomatic Renal Cell Carcinoma as a Finding of Bardet Biedl Syndrome | Full Text | References | PDF (449 KB)
  • 47 Views
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Article
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome in a Girl with Chromosome Translocation t(2;3)(q33;q23)
Andreas Tzschach, Christina Kelbova, Sabine Weidensee, Hartmut Peters, Hans-Hilger Ropers, Reinhard Ullmann, Fikret Erdogan, Jan Jurkatis, Corinna Menzel, Vera Kalscheuer & Stephanie Demuth
Pages: 37-40
Published online: 08 Jul 2009
AbstractforBlepharophimosis-Ptosis-Epicanthus Inversus Syndrome in a Girl with Chromosome Translocation t(2;3)(q33;q23) | Full Text | References | PDF (1.4 MB)
  • 96 Views
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Mutation Report

Article
Mutation in the SLC4A11 Gene Associated with Autosomal Recessive Congenital Hereditary Endothelial Dystrophy in a Large Saudi Family
Shaival S. Shah, Ali Al-Rajhi, James D. Brandt, Mark J. Mannis, Ben Roos, Val C. Sheffield, Nasreen A. Syed, Edwin M. Stone & John H. Fingert
Pages: 41-45
Published online: 08 Jul 2009
AbstractforMutation in the SLC4A11 Gene Associated with Autosomal Recessive Congenital Hereditary Endothelial Dystrophy in a Large Saudi Family | Full Text | References | PDF (198.6 KB)
  • 159 Views
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