Literature DB >> 21591945

Genomics and the eye.

Val C Sheffield1, Edwin M Stone.   

Abstract

Mesh：

Year:  2011        PMID： 21591945     DOI： 10.1056/NEJMra1012354

Source DB:  PubMed          Journal:  N Engl J Med        ISSN： 0028-4793            Impact factor:   91.245


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  36 in total

1.  Mutations in ASPH cause facial dysmorphism, lens dislocation, anterior-segment abnormalities, and spontaneous filtering blebs, or Traboulsi syndrome.

Authors:  Nisha Patel; Arif O Khan; Ahmad Mansour; Jawahir Y Mohamed; Abdullah Al-Assiri; Randa Haddad; Xiaofei Jia; Yong Xiong; André Mégarbané; Elias I Traboulsi; Fowzan S Alkuraya
Journal:  Am J Hum Genet       Date:  2014-04-24       Impact factor: 11.025

Review 2.  Ocular Toxicity of Tyrosine Kinase Inhibitors.

Authors:  Mary Elizabeth Davis
Journal:  Oncol Nurs Forum       Date:  2016-03       Impact factor: 2.172

3.  The molecular genetics of eye diseases.

Authors:  Jonathan L Haines; Val C Sheffield
Journal:  Hum Mol Genet       Date:  2017-08-01       Impact factor: 6.150

4.  Genomic form of rhodopsin DNA nanoparticles rescued autosomal dominant Retinitis pigmentosa in the P23H knock-in mouse model.

Authors:  Rajendra Narayan Mitra; Min Zheng; Ellen R Weiss; Zongchao Han
Journal:  Biomaterials       Date:  2017-12-05       Impact factor: 12.479

5.  Peripheral Pigmented Retinal Lesions in Stargardt Disease.

Authors:  Peter Y Zhao; Maria Fernanda Abalem; Daniel Nadelman; Cynthia X Qian; Kari Branham; Dana Schlegel; Naheed Khan; John R Heckenlively; Thiran Jayasundera
Journal:  Am J Ophthalmol       Date:  2017-12-27       Impact factor: 5.258

Review 6.  CRISPR-Cas9 genome engineering: Treating inherited retinal degeneration.

Authors:  Erin R Burnight; Joseph C Giacalone; Jessica A Cooke; Jessica R Thompson; Laura R Bohrer; Kathleen R Chirco; Arlene V Drack; John H Fingert; Kristan S Worthington; Luke A Wiley; Robert F Mullins; Edwin M Stone; Budd A Tucker
Journal:  Prog Retin Eye Res       Date:  2018-03-22       Impact factor: 21.198

7.  Autosomal recessive retinitis pigmentosa due to ABCA4 mutations: clinical, pathologic, and molecular characterization.

Authors:  Robert F Mullins; Markus H Kuehn; Roxana A Radu; G Stephanie Enriquez; Jade S East; Emily I Schindler; Gabriel H Travis; Edwin M Stone
Journal:  Invest Ophthalmol Vis Sci       Date:  2012-04-18       Impact factor: 4.799

8.  Biallelic variants in TTLL5, encoding a tubulin glutamylase, cause retinal dystrophy.

Authors:  Panagiotis I Sergouniotis; Christina Chakarova; Cian Murphy; Mirjana Becker; Eva Lenassi; Gavin Arno; Monkol Lek; Daniel G MacArthur; Shomi S Bhattacharya; Anthony T Moore; Graham E Holder; Anthony G Robson; Uwe Wolfrum; Andrew R Webster; Vincent Plagnol
Journal:  Am J Hum Genet       Date:  2014-05-01       Impact factor: 11.025

Review 9.  Stem cells as tools for studying the genetics of inherited retinal degenerations.

Authors:  Luke A Wiley; Erin R Burnight; Robert F Mullins; Edwin M Stone; Budd A Tucker
Journal:  Cold Spring Harb Perspect Med       Date:  2014-12-11       Impact factor: 6.915

10.  Gene expression profiling of transporters in the solute carrier and ATP-binding cassette superfamilies in human eye substructures.

Authors:  Amber Dahlin; Ethan Geier; Sophie L Stocker; Cheryl D Cropp; Elena Grigorenko; Michele Bloomer; Julie Siegenthaler; Lu Xu; Anthony S Basile; Diane D-S Tang-Liu; Kathleen M Giacomini
Journal:  Mol Pharm       Date:  2013-01-24       Impact factor: 4.939
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