The characteristics of digenic familial exudative vitreoretinopathy-Reference-Cited by-同舟云学术

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The characteristics of digenic familial exudative vitreoretinopathy

Published:2018-08-10 Issue:11 Volume:256 Page:2149-2156
ISSN:0721-832X
Container-title:Graefe's Archive for Clinical and Experimental Ophthalmology
language:en
Short-container-title:Graefes Arch Clin Exp Ophthalmol

Author:

Li Yian,Peng Jie,Li Jiakai,Zhang Qi,Li Jing,Zhang Xiang,Fei Ping,She Kaiqin,Zhao Peiquan

Publisher

Springer Science and Business Media LLC

Subject

Cellular and Molecular Neuroscience,Sensory Systems,Ophthalmology

Link

http://link.springer.com/article/10.1007/s00417-018-4076-8/fulltext.html

Reference22 articles.

1. Criswick VG, Schepens CL (1969) Familial exudative vitreoretinopathy. Am J Ophthalmol 68:578–594

2. Boonstra FN, van Nouhuys CE, Schuil J, de Wijs IJ, van der Donk KP, Nikopoulos K, Mukhopadhyay A, Scheffer H, Tilanus MA, Cremers FP, Hoefsloot LH (2009) Clinical and molecular evaluation of probands and family members with familial exudative vitreoretinopathy. Invest Ophthalmol Vis Sci 50:4379–4385. https://doi.org/10.1167/iovs.08-3320

3. Pendergast SD, Trese MT (1998) Familial exudative vitreoretinopathy: results of surgical management. Ophthalmology 105:1015–1023. https://doi.org/10.1016/S0161-6420(98)96002-X

4. Adzhubei IA, Schmidt S, Peshkin L, Ramensky VE, Gerasimova A, Bork P, Kondrashov AS, Sunyaev SR (2010) A method and server for predicting damaging missense mutations. Nat Methods 7:248–249. https://doi.org/10.1038/nmeth0410-248

5. Kumar P, Henikoff S, Ng PC (2009) Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm. Nat Protoc 4:1073–1081. https://doi.org/10.1038/nprot.2009.86

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1. Familial Exudative Vitreoretinopathy With and Without Pathogenic Variants of Norrin/β-Catenin Signaling Genes;Ophthalmology Science;2024-09

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3. Clinician-Driven Reanalysis of Exome Sequencing Data From Patients With Inherited Retinal Diseases;JAMA Network Open;2024-05-31

4. Zebrafish as an experimental model for inherited retinal diseases;Zebrafish Research - An Ever-Expanding Experimental Model;2024-03-27

5. Genetic and clinical characteristics of ZNF408-related familial exudative vitreoretinopathy;Journal of International Medical Research;2023-09

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