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Volume 28 Issue 2
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Ophthalmic Genetics
, Volume
28
Issue 2 2007
Official Journal of the International Society for Genetic Eye Disease and Retinoblastoma
ISSN:
1744-5094 (electronic) 1381-6810 (paper)
Publication Frequency:
4 issues per year
Subjects:
Genetics
;
Ophthalmology
;
Publisher:
Informa Healthcare
Issue Purchase: US$221.38 -
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Articles
Methylenetetrahydrofolate Reductase Genetic Polymorphisms in Patients with Primary Open-Angle Glaucoma
Madeleine Zetterberg; Gunnar Tasa; Mona Seibt Palmér; Erkki Juronen; Egle Toover; Kaj Blennow; Henrik Zetterberg
Pages 47 – 50
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Did Edgar Degas Have an Inherited Retinal Degeneration?
Zeynel A. Karcioglu
Pages 51 – 55
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Autosomal Dominant Cornea Plana is not Associated with Pathogenic Mutations in
DCN, DSPG3, FOXC1, KERA, LUM,
or
PITX2
Anthony J. Aldave; Baris Sonmez; Nirit Bourla; Gerald Schultz; Jeanette C. Papp; Andrew K. Salem; Sylvia A. Rayner; Vivek S. Yellore
Pages 57 – 67
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Original Articles
Chromosomal Abnormalities and Glaucoma: A Case of Congenital Glaucoma Associated with 9p Deletion Syndrome
Konal Saha; Ian Christopher Lloyd; Isabelle Mary Russell-Eggitt; David Samuel Irving Taylor
Pages 69 – 72
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A Rare Transthyretin Mutation (Asp18Glu) Associated with Vitreous Amyloid
Joel M. Solano; Jose S. Pulido; Diva R. Salomao
Pages 73 – 75
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RESEARCH ARTICLE
Intron 4 VNTR of Endothelial Nitric Oxide Synthase (eNOS) Gene and Diabetic Retinopathy in
Type 2
Patients in Southern India
Satagopan Uthra; Rajiv Raman; Bickol N. Mukesh; Kumari R. Padmaja; Pradeep G. Paul; Praveena Lakshmipathy; Perumal Gnanamoorthy; Tarun Sharma; Catherine A. McCarty; Govindasamy Kumaramanickavel
Pages 77 – 81
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CASE REPORT
Unilateral Ocular Duplication
Hanne Jensen; Søren Anker Pedersen; Ove A. Jensen; Margrethe Herning; Mette Warburg
Pages 83 – 88
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Gillespie Syndrome: Additional Findings and Parental Consanguinity
Daniela Varela Luquetti; Ruy Pires Oliveira-Sobrinho; Vera Lúcia Gil-da-Silva-Lopes
Pages 89 – 93
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Bardet-Biedl Syndrome in an African-American Patient: Should the Diagnostic Criteria Be Expanded to Include Hydrometrocolpos?
Hassanain S. Toma; Perciliz L. Tan; Victor A. McKusick; Nicholas Katsanis; N. A. Adams
Pages 95 – 99
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Vision Impairment with an Interstitial Deletion of the Short Arm of Chromosome 8
Rosalind M. K. Stewart; David C. Assheton; Richard P. Hagan; Arvind Chandna
Pages 101 – 104
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Ocular Anomalies Associated with Interstitial Deletion of Chromosome 2q31: Case Report and Review
Joël Gambrelle; Marianne Till; Bibi Lukusa; Francis Beby; Nathalie Mory; Léon Sann; Laurent Kodjikian; Jean Daniel Grange; Guy Putet
Pages 105 – 109
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