Searching the second hit in patients with inherited retinal dystrophies and monoallelic variants in ABCA4, USH2A and CEP290 by whole-gene targeted sequencing-Reference-Cited by-同舟云学术

Searching the second hit in patients with inherited retinal dystrophies and monoallelic variants in ABCA4, USH2A and CEP290 by whole-gene targeted sequencing

Published:2018-09-06 Issue:1 Volume:8 Page:
ISSN:2045-2322
Container-title:Scientific Reports
language:en
Short-container-title:Sci Rep

Author:

González-del Pozo María,Martín-Sánchez Marta,Bravo-Gil Nereida,Méndez-Vidal Cristina,Chimenea Ángel^ORCID,Rodríguez-de la Rúa Enrique,Borrego Salud,Antiñolo Guillermo^ORCID

Publisher

Springer Science and Business Media LLC

Subject

Multidisciplinary

Link

http://www.nature.com/articles/s41598-018-31511-5.pdf

Reference77 articles.

1. Wright, A. F., Chakarova, C. F., Abd El-Aziz, M. M. & Bhattacharya, S. S. Photoreceptor degeneration: genetic and mechanistic dissection of a complex trait. Nature reviews. Genetics 11, 273–284, https://doi.org/10.1038/nrg2717 (2010).

2. Hartong, D. T., Berson, E. L. & Dryja, T. P. Retinitis pigmentosa. Lancet 368, 1795–1809, https://doi.org/10.1016/S0140-6736(06)69740-7 (2006).

3. Hamel, C. P. Cone rod dystrophies. Orphanet journal of rare diseases 2, 7 (2007).

4. Stargardt, K. Über familiäre, progressive Degeneration in der Maculagegend des Auges. Albrecht von Graefes Archiv für Ophthalmologie 71, 534–550, https://doi.org/10.1007/bf01961301 (1909).

5. Gelisken, O. & De Laey, J. J. A clinical review of Stargardt's disease and/or fundus flavimaculatus with follow-up. International ophthalmology 8, 225–235 (1985).

Cited by 19 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Nanopore Deep Sequencing as a Tool to Characterize and Quantify Aberrant Splicing Caused by Variants in Inherited Retinal Dystrophy Genes;International Journal of Molecular Sciences;2024-09-03

2. Clinical and genetic characterization of patients with eye diseases included in the Spanish Rare Diseases Patient Registry;Orphanet Journal of Rare Diseases;2024-06-13

3. Molecular Mechanisms Governing Sight Loss in Inherited Cone Disorders;Genes;2024-06-01

4. Genetic characterization of 1210 Japanese pedigrees with inherited retinal diseases by whole‐exome sequencing;Human Mutation;2022-11-07

5. Exome Sequencing Identified Molecular Determinants of Retinal Dystrophies in Nine Consanguineous Pakistani Families;Genes;2022-09-10