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Volume 27 Issue 2
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Ophthalmic Genetics
, Volume
27
Issue 2 2006
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
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Publisher:
Informa Healthcare
Issue Purchase: US$221.38 -
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Research Report
The C677T Variant in the Methylenetetrahydrofolate Reductase Gene Is Not Associated with Disease in Cohorts of Pseudoexfoliation Glaucoma and Primary Open-Angle Glaucoma Patients from Iowa
John H. Fingert; Young H. Kwon; Paula A. Moore; Rebecca M. Johnston; Kwang-Youn Kim; Val C. Sheffield; Wallace L. M. Alward; Edwin M. Stone
Pages 39 – 41
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Scanning the Ocular Albinism 1 (OA1) Gene for Polymorphisms in Congenital Nystagmus by DHPLC
Georgina B. Sallmann; Paula J. Bray; Sophie Rogers; Anne Quince; Richard G. H. Cotton; Susan M. Carden
Pages 43 – 49
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Mutation Report
Variant Phenotype of Best Vitelliform Macular Dystrophy Associated with Compound Heterozygous Mutations in
VMD2
Patrik Schatz; Joakim Klar; Sten Andréasson; Vesna Ponjavic; Niklas Dahl
Pages 51 – 56
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Case Report
Cone Dysfunction as a Paraneoplastic Syndrome Associated with Retinal Antigens Approximating 40 kiloDalton
Christine E. Parc; Elodie Azan; Sébastien Bonnel; José Alain Sahel; Josseline Kaplan; Charles E. Thirkill
Pages 57 – 61
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Peters Anomaly in Association with Multiple Midline Anomalies and a Familial Chromosome 4 Inversion
Edward Neilan; Yana Pikman; Virginia E. Kimonis
Pages 63 – 65
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Congenital Hypothyroidism in Peters Plus Syndrome
Rika Kosaki; Akiko Kamiishi; Ryusuke Sugiyama; Masataka Kawai; Tomonobu Hasegawa; Kenjiro Kosaki
Pages 67 – 69
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Hunter Syndrome (MPS II-B): A Report of Bilateral Vitreous Floaters and Maculopathy
Monique A. Anawis M.D., J.D.
Pages 71 – 72
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Abstract
Retinal Architecture, Retinal Function and Extracellular Protein of Retinoschisis Mouse Model Are Rescued by Gene Therapy
Robert K. Koenekoop
Page 73
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