Literature DB >> 27096895

Isolated maculopathy associated with biallelic CRB1 mutations.

Neepa Shah1,2, Mausam R Damani1,2, Xiaosong Sonia Zhu1, Emma C Bedoukian3, Jean Bennett2, Albert M Maguire1,2, Bart P Leroy1,4.   

Abstract

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Year:  2016        PMID： 27096895     DOI： 10.3109/13816810.2016.1155225

Source DB:  PubMed          Journal:  Ophthalmic Genet        ISSN： 1381-6810            Impact factor:   1.803


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  5 in total

1.  Defining inclusion criteria and endpoints for clinical trials: a prospective cross-sectional study in CRB1-associated retinal dystrophies.

Authors:  Mays Talib; Mary J van Schooneveld; Jan Wijnholds; Maria M van Genderen; Nicoline E Schalij-Delfos; Herman E Talsma; Ralph J Florijn; Jacoline B Ten Brink; Frans P M Cremers; Alberta A H J Thiadens; L Ingeborgh van den Born; Carel B Hoyng; Magda A Meester-Smoor; Arthur A Bergen; Camiel J F Boon
Journal:  Acta Ophthalmol       Date:  2021-02-02       Impact factor: 3.761

2.  Multimodal Retinal Imaging and Microperimetry Reveal a Novel Phenotype and Potential Trial End Points in CRB1-Associated Retinopathies.

Authors:  Danial Roshandel; Jennifer A Thompson; Rachael C Heath Jeffery; Danuta M Sampson; Enid Chelva; Terri L McLaren; Tina M Lamey; John N De Roach; Shane R Durkin; Fred K Chen
Journal:  Transl Vis Sci Technol       Date:  2021-02-05       Impact factor: 3.283

3.  Clinical and genetic characteristics of 251 consecutive patients with macular and cone/cone-rod dystrophy.

Authors:  Johannes Birtel; Tobias Eisenberger; Martin Gliem; Philipp L Müller; Philipp Herrmann; Christian Betz; Diana Zahnleiter; Christine Neuhaus; Steffen Lenzner; Frank G Holz; Elisabeth Mangold; Hanno J Bolz; Peter Charbel Issa
Journal:  Sci Rep       Date:  2018-03-19       Impact factor: 4.379

4.  A clinical and molecular characterisation of CRB1-associated maculopathy.

Authors:  Kamron N Khan; Anthony Robson; Omar A R Mahroo; Gavin Arno; Chris F Inglehearn; Monica Armengol; Naushin Waseem; Graham E Holder; Keren J Carss; Lucy F Raymond; Andrew R Webster; Anthony T Moore; Martin McKibbin; Maria M van Genderen; James A Poulter; Michel Michaelides
Journal:  Eur J Hum Genet       Date:  2018-02-01       Impact factor: 4.246

Review 5.  Retinal Dystrophies and the Road to Treatment: Clinical Requirements and Considerations.

Authors:  Mays Talib; Camiel J F Boon
Journal:  Asia Pac J Ophthalmol (Phila)       Date:  2020 May-Jun
  5 in total

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