Novel Mutations in Norrie Disease Gene in Japanese Patients with Norrie Disease and Familial Exudative Vitreoretinopathy-Reference-Cited by-同舟云学术

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Novel Mutations in Norrie Disease Gene in Japanese Patients with Norrie Disease and Familial Exudative Vitreoretinopathy

Published:2007-03-01 Issue:3 Volume:48 Page:1276
ISSN:1552-5783
Container-title:Investigative Opthalmology & Visual Science
language:en
Short-container-title:Invest. Ophthalmol. Vis. Sci.

Author:

Kondo Hiroyuki¹,Qin Minghui²,Kusaka Shunji³,Tahira Tomoko²,Hasebe Haruyuki⁴,Hayashi Hideyuki¹,Uchio Eiichi¹,Hayashi Kenshi²

Affiliation:

1. From the Department of Ophthalmology, Fukuoka University School of Medicine, Fukuoka, Japan; the

2. Division of Genome Analysis, Research Center for Genetic Information, Medical Institute of Bioregulation, Kyushu University, Fukuoka, Japan; the

3. Department of Ophthalmology, Osaka University Medical School, Suita, Japan; and the

4. Department of Ophthalmology, Hiroshima Prefectural Hospital, Hiroshima, Japan.

Publisher

Association for Research in Vision and Ophthalmology (ARVO)

Subject

General Medicine

Cited by 42 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. Familial Exudative Vitreoretinopathy With and Without Pathogenic Variants of Norrin/β-Catenin Signaling Genes;Ophthalmology Science;2024-09

2. Investigating the Impact of Dimer Interface Mutations on Norrin's Secretion and Norrin/β-Catenin Pathway Activation;Investigative Opthalmology & Visual Science;2024-03-22

3. Characterization of a novel heterozygous frameshift variant in NDP gene that causes familial exudative vitreoretinopathy in female patients;Molecular Genetics and Genomics;2024-03-13

4. Combined X-linked familial exudative vitreoretinopathy and retinopathy of prematurity phenotype in an infant with mosaic turner syndrome with ring X chromosome;Ophthalmic Genetics;2022-07-14

5. Genotype-phenotype associations in familial exudative vitreoretinopathy: A systematic review and meta-analysis on more than 3200 individuals;PLOS ONE;2022-07-13

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