Literature DB >> 17315303

Genetic ophthalmology and the era of clinical care.

Paul A Sieving1, Francis S Collins.   

Abstract

Mesh：

Year:  2007        PMID： 17315303     DOI： 10.1001/jama.297.7.733

Source DB:  PubMed          Journal:  JAMA        ISSN： 0098-7484            Impact factor:   56.272


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  12 in total

1.  Genomics in the era of molecular ophthalmology: reflections on the National Ophthalmic Disease Genotyping Network (eyeGENE).

Authors:  Brian P Brooks; Ian M Macdonald; Santa J Tumminia; Nizar Smaoui; Delphine Blain; Ajaina A Nezhuvingal; Paul A Sieving
Journal:  Arch Ophthalmol       Date:  2008-03

2.  Translational Epidemiology in Ophthalmology: From Etiologic Research to Personalized Health Impact.

Authors:  Mohammad Kamran Ikram; Seang Mei Saw
Journal:  Transl Vis Sci Technol       Date:  2012-06-01       Impact factor: 3.283

3.  The bugeye mutant zebrafish exhibits visual deficits that arise with the onset of an enlarged eye phenotype.

Authors:  Joseph M Stujenske; John E Dowling; Farida Emran
Journal:  Invest Ophthalmol Vis Sci       Date:  2011-06-13       Impact factor: 4.799

4.  Prevalence of mutations in eyeGENE probands with a diagnosis of autosomal dominant retinitis pigmentosa.

Authors:  Lori S Sullivan; Sara J Bowne; Melissa J Reeves; Delphine Blain; Kerry Goetz; Vida Ndifor; Sally Vitez; Xinjing Wang; Santa J Tumminia; Stephen P Daiger
Journal:  Invest Ophthalmol Vis Sci       Date:  2013-09-19       Impact factor: 4.799

5.  Identification of a novel mutation in the NTF4 gene that causes primary open-angle glaucoma in a Chinese population.

Authors:  Eranga N Vithana; Monisha E Nongpiur; Divya Venkataraman; Stephanie H Chan; Jagadeesh Mavinahalli; Tin Aung
Journal:  Mol Vis       Date:  2010-08-15       Impact factor: 2.367

Review 6.  Ocular von Hippel-Lindau disease: clinical update and emerging treatments.

Authors:  Wai T Wong; Emily Y Chew
Journal:  Curr Opin Ophthalmol       Date:  2008-05       Impact factor: 3.761

Review 7.  The genetics of primary open-angle glaucoma: a review.

Authors:  R Rand Allingham; Yutao Liu; Douglas J Rhee
Journal:  Exp Eye Res       Date:  2008-11-14       Impact factor: 3.467

8.  Functional characterization of the GDEP promoter and three enhancer elements in retinoblastoma and prostate cell lines.

Authors:  D S Cross; J K Burmester
Journal:  Med Oncol       Date:  2007-06-27       Impact factor: 3.064

9.  Giant cell arteritis and mortality.

Authors:  R Wade Crow; Bradley J Katz; Judith E A Warner; Stephen C Alder; Kang Zhang; Susan Schulman; Kathleen B Digre
Journal:  J Gerontol A Biol Sci Med Sci       Date:  2009-02-04       Impact factor: 6.053

10.  Genotype-phenotype associations in a large PRPH2-related retinopathy cohort.

Authors:  Melissa J Reeves; Kerry E Goetz; Bin Guan; Ehsan Ullah; Delphine Blain; Wadih M Zein; Santa J Tumminia; Robert B Hufnagel
Journal:  Hum Mutat       Date:  2020-07-05       Impact factor: 4.700
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