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Retinal disease in Usher syndrome III caused by mutations in the clarin-1 gene.
Herrera W, Aleman TS, Cideciyan AV, Roman AJ, Banin E, Ben-Yosef T, Gardner LM, Sumaroka A, Windsor EA, Schwartz SB, Stone EM, Liu XZ, Kimberling WJ, Jacobson SG. Herrera W, et al. Among authors: liu xz. Invest Ophthalmol Vis Sci. 2008 Jun;49(6):2651-60. doi: 10.1167/iovs.07-1505. Epub 2008 Feb 15. Invest Ophthalmol Vis Sci. 2008. PMID: 18281613
Usher syndromes due to MYO7A, PCDH15, USH2A or GPR98 mutations share retinal disease mechanism.
Jacobson SG, Cideciyan AV, Aleman TS, Sumaroka A, Roman AJ, Gardner LM, Prosser HM, Mishra M, Bech-Hansen NT, Herrera W, Schwartz SB, Liu XZ, Kimberling WJ, Steel KP, Williams DS. Jacobson SG, et al. Among authors: liu xz. Hum Mol Genet. 2008 Aug 1;17(15):2405-15. doi: 10.1093/hmg/ddn140. Epub 2008 May 7. Hum Mol Genet. 2008. PMID: 18463160 Free PMC article.
Mutational spectrum in Usher syndrome type II.
Ouyang XM, Hejtmancik JF, Jacobson SG, Li AR, Du LL, Angeli S, Kaiser M, Balkany T, Liu XZ. Ouyang XM, et al. Among authors: liu xz. Clin Genet. 2004 Apr;65(4):288-93. doi: 10.1046/j.1399-0004.2004.00216.x. Clin Genet. 2004. PMID: 15025721
A common ancestral origin of the frequent and widespread 2299delG USH2A mutation.
Dreyer B, Tranebjaerg L, Brox V, Rosenberg T, Möller C, Beneyto M, Weston MD, Kimberling WJ, Cremers CW, Liu XZ, Nilssen O. Dreyer B, et al. Among authors: liu xz. Am J Hum Genet. 2001 Jul;69(1):228-34. doi: 10.1086/321269. Epub 2001 Jun 8. Am J Hum Genet. 2001. PMID: 11402400 Free PMC article.
Review of Genotype-Phenotype Correlations in Usher Syndrome.
Nisenbaum E, Thielhelm TP, Nourbakhsh A, Yan D, Blanton SH, Shu Y, Koehler KR, El-Amraoui A, Chen Z, Lam BL, Liu X. Nisenbaum E, et al. Ear Hear. 2022 Jan/Feb;43(1):1-8. doi: 10.1097/AUD.0000000000001066. Ear Hear. 2022. PMID: 34039936 Free PMC article. Review.
861 results