Clinical and genetic characteristics of 251 consecutive patients with macular and cone/cone-rod dystrophy-Reference-Cited by-同舟云学术

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

Published:2018-03-19 Issue:1 Volume:8 Page:
ISSN:2045-2322
Container-title:Scientific Reports
language:en
Short-container-title:Sci Rep

Author:

Birtel Johannes,Eisenberger Tobias,Gliem Martin,Müller Philipp L.,Herrmann Philipp,Betz Christian,Zahnleiter Diana,Neuhaus Christine,Lenzner Steffen,Holz Frank G.,Mangold Elisabeth,Bolz Hanno J.,Charbel Issa Peter^ORCID

Publisher

Springer Science and Business Media LLC

Subject

Multidisciplinary

Link

http://www.nature.com/articles/s41598-018-22096-0.pdf

Reference74 articles.

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2. Boulanger-Scemama, E. et al. Next-generation sequencing applied to a large French cone and cone-rod dystrophy cohort: mutation spectrum and new genotype-phenotype correlation. Orphanet J Rare Dis 10, 85, https://doi.org/10.1186/s13023-015-0300-3 (2015).

3. Thiadens, A. A. et al. Clinical course, genetic etiology, and visual outcome in cone and cone-rod dystrophy. Ophthalmology 119, 819–826, https://doi.org/10.1016/j.ophtha.2011.10.011 (2012).

4. Neveling, K. et al. Next-generation genetic testing for retinitis pigmentosa. Hum Mutat 33, 963–972, https://doi.org/10.1002/humu.22045 (2012).

5. O’Sullivan, J. et al. A paradigm shift in the delivery of services for diagnosis of inherited retinal disease. J Med Genet 49, 322–326, https://doi.org/10.1136/jmedgenet-2012-100847 (2012).

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