Literature DB >> 17296896

Genetic testing for inherited eye disease.

Edwin M Stone1.   

Abstract

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Year:  2007        PMID: 17296896     DOI: 10.1001/archopht.125.2.205

Source DB:  PubMed          Journal:  Arch Ophthalmol        ISSN: 0003-9950


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  15 in total

Review 1.  The Status of RPE65 Gene Therapy Trials: Safety and Efficacy.

Authors:  Eric A Pierce; Jean Bennett
Journal:  Cold Spring Harb Perspect Med       Date:  2015-01-29       Impact factor: 6.915

2.  Leber hereditary optic neuropathy gene therapy clinical trial recruitment: year 1.

Authors:  Byron L Lam; William J Feuer; Fawzi Abukhalil; Vittorio Porciatti; William W Hauswirth; John Guy
Journal:  Arch Ophthalmol       Date:  2010-09

3.  Identification of genetic variation and haplotype structure of the canine ABCA4 gene for retinal disease association studies.

Authors:  B Zangerl; S J Lindauer; G M Acland; G D Aguirre
Journal:  Mol Genet Genomics       Date:  2010-07-27       Impact factor: 3.291

Review 4.  Steroid-induced ocular hypertension/glaucoma: Focus on pharmacogenomics and implications for precision medicine.

Authors:  M Elizabeth Fini; Stephen G Schwartz; Xiaoyi Gao; Shinwu Jeong; Nitin Patel; Tatsuo Itakura; Marianne O Price; Francis W Price; Rohit Varma; W Daniel Stamer
Journal:  Prog Retin Eye Res       Date:  2016-09-22       Impact factor: 21.198

5.  Trial end points and natural history in patients with G11778A Leber hereditary optic neuropathy : preparation for gene therapy clinical trial.

Authors:  Byron L Lam; William J Feuer; Joyce C Schiffman; Vittorio Porciatti; Ruth Vandenbroucke; Potyra R Rosa; Giovanni Gregori; John Guy
Journal:  JAMA Ophthalmol       Date:  2014-04-01       Impact factor: 7.389

6.  Case report: autofluorescence imaging and phenotypic variance in a sibling pair with early-onset retinal dystrophy due to defective CRB1 function.

Authors:  Joaquin Tosi; Ilene Tsui; Luiz H Lima; Nan-Kai Wang; Stephen H Tsang
Journal:  Curr Eye Res       Date:  2009-05       Impact factor: 2.424

Review 7.  Genetic Testing in Pediatric Ophthalmology.

Authors:  Ishwar Chander Verma; Preeti Paliwal; Kanika Singh
Journal:  Indian J Pediatr       Date:  2017-10-02       Impact factor: 1.967

8.  A novel mutation and phenotypes in phosphodiesterase 6 deficiency.

Authors:  Stephen H Tsang; Irena Tsui; Chai Lin Chou; Jana Zernant; Eneli Haamer; Reza Iranmanesh; Joaquin Tosi; Rando Allikmets
Journal:  Am J Ophthalmol       Date:  2008-08-23       Impact factor: 5.258

9.  Genetics for the ophthalmologist.

Authors:  Karthikeyan A Sadagopan; Jenina Capasso; Alex V Levin
Journal:  Oman J Ophthalmol       Date:  2012-09

10.  Management of a South African family with retinitis pigmentosa-should potential therapy influence translational research protocols?

Authors:  Lisa Roberts; George Rebello; Rajkumar Ramesar; Jacquie Greenberg
Journal:  J Ocul Biol Dis Infor       Date:  2008-05-29
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