The world's first wiki where authorship really matters (Nature Genetics, 2008). Due credit and reputation for authors. Imagine a global collaborative knowledge base for original thoughts. Search thousands of articles and collaborate with scientists around the globe.

wikigene or wiki gene protein drug chemical gene disease author authorship tracking collaborative publishing evolutionary knowledge reputation system wiki2.0 global collaboration genes proteins drugs chemicals diseases compound

Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

[search][options]

Editor

Personal info

View

About

Terms

Javascript disabled

Please enable Javascript support in your browser to use this application.

Instructions on how to enable JavaScript on different browsers can be found here: http://www.google.com/support/bin/answer.py?answer=23852.

[edit this page]

Yoshida, S. et al.

Yoshida, Arita, Yoshida, Tada, Emori, Noda, Nakao, Fujisawa, Ishibashi,

Novel mutation in FZD4 gene in a Japanese pedigree with familial exudative vitreoretinopathy.

PURPOSE: To identify the genetic defect in the FZD4 gene responsible for familial exudative vitreoretinopathy (FEVR) in a Japanese family. DESIGN: Interventional case report. METHODS: Complete ophthalmologic examinations were performed, and the FZD4 gene was analyzed by direct genomic sequencing. RESULTS: Fundus examination of a 13-year-old Japanese girl who had had esotropia and exudative retinal detachment at 3 years exhibited peripheral avascular areas bilaterally, a dragged disk, and retinal holes unilaterally. In contrast, her asymptomatic father had only bilateral avascular areas in the peripheral retina. Molecular genetic analysis revealed that both the proband and her father had a heterozygous missense mutation of A to G at 1026 bp of the FZD4 gene (Met342Val). CONCLUSIONS: A novel mutation in the FZD4 gene was identified in Japanese patients with FEVR. Our observations support the hypothesis that the FZD4-associated FEVR might represent a milder form than that associated with other genetic origins.[1]

References

Novel mutation in FZD4 gene in a Japanese pedigree with familial exudative vitreoretinopathy. Yoshida, S., Arita, R., Yoshida, A., Tada, H., Emori, A., Noda, Y., Nakao, S., Fujisawa, K., Ishibashi, T. Am. J. Ophthalmol. (2004) [Pubmed]

Annotations and hyperlinks in this abstract are from individual authors of WikiGenes or automatically generated by the WikiGenes Data Mining Engine. The abstract is from MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine.About WikiGenes Open Access Licence Privacy Policy Terms of Use apsburg