Genetic testing for X-linked juvenile retinoschisis

1. Functional implications of the spectrum of mutations found in 234 cases with X-linked juvenile retinoschisis. The Retinoschisis Consortium. Hum Mol Genet. 1998 Jul;7(7):1185-92. PubMed PMID: 961817810.1093/hmg/7.7.11859618178Search in Google Scholar

2. Sieving PA, MacDonald IM, Chan S. X-Linked Juvenile Retinoschisis. In: RA Pagon, MP Adam, HH Ardinger, SE Wallace, A Amemiya, LJH Bean, et al., editors. GeneReviews(R). Seattle (WA)1993 Search in Google Scholar

3. Molday RS, Kellner U, Weber BH. X-linked juvenile retinoschisis: clinical diagnosis, genetic analysis, and molecular mechanisms. Prog Retin Eye Res. 2012 May;31(3):195-212. doi: 10.1016/j.preteyeres. 2011.12.002. Epub 2012 Jan 3. Review. PubMed PMID: 22245536; PubMed Central PMCID: PMC3334421Search in Google Scholar

4. Nicoletti A, Ziccardi L, Maltese PE, Benedetti S, Palumbo O, Rendina M, et al. Design and Validation of a New MLPA-Based Assay for the Detection of RS1 Gene Deletions and Application in a Large Family with X-Linked Juvenile Retinoschisis. Genet Test Mol Biomarkers. 2017 Feb;21(2):116-121. doi: 10.1089/gtmb.2016.0257. Epub 2016 Dec 20. PubMed PMID: 27997221; PubMed Central PMCID: PMC5335781Search in Google Scholar

5. Chen B, Gagnon M, Shahangian S, Anderson NL, Howerton DA, Boone JD. Good Laboratory Practices for Molecular Genetic Testing for Heritable Diseases and Conditions. MMWR Recomm Rep 2009 Jun 12; 58 (RR-6):1-37. PubMed PMID: 19521335Search in Google Scholar

6. Stone EM, Aldave AJ, Drack AV, Maccumber MW, Sheffield VC, Traboulsi E, et al. Recommendations for genetic testing of inherited eye diseases: report of the American Academy of Ophthalmology task force on genetic testing. Ophthalmology. 2012 Nov;119(11):2408-10. PubMed PMID: 22944025. Epub 2012/09/01.10.1016/j.ophtha.2012.05.04722944025Search in Google Scholar