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8. [Detection and prenatal diagnosis for RS1 gene mutations in two Chinese families with X-linked juvenile retinoschisis]. Chu Y; Fang D; Hou QF; Wang LY; Guo XR; Wang YT; Liao SX Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2013 Apr; 30(2):199-202. PubMed ID: 23568735 [TBL] [Abstract][Full Text] [Related]
9. Four Japanese male patients with juvenile retinoschisis: only three have mutations in the RS1 gene. Hayashi T; Omoto S; Takeuchi T; Kozaki K; Ueoka Y; Kitahara K Am J Ophthalmol; 2004 Nov; 138(5):788-98. PubMed ID: 15531314 [TBL] [Abstract][Full Text] [Related]
13. Identification of four novel mutations of the XLRS1 gene in Japanese patients with X-linked juvenile retinoschisis. Mutation in brief no. 234. Online. Mashima Y; Shinoda K; Ishida S; Ozawa Y; Kudoh J; Iwata T; Oguchi Y; Shimizu N Hum Mutat; 1999; 13(4):338. PubMed ID: 10220153 [TBL] [Abstract][Full Text] [Related]
14. An unusual X-linked retinoschisis phenotype and biochemical characterization of the W112C RS1 mutation. Iannaccone A; Mura M; Dyka FM; Ciccarelli ML; Yashar BM; Ayyagari R; Jablonski MM; Molday RS Vision Res; 2006 Oct; 46(22):3845-52. PubMed ID: 16884758 [TBL] [Abstract][Full Text] [Related]
15. Correlation of genetic and clinical findings in Spanish patients with X-linked juvenile retinoschisis. Riveiro-Alvarez R; Trujillo-Tiebas MJ; Gimenez-Pardo A; Garcia-Hoyos M; Lopez-Martinez MA; Aguirre-Lamban J; Garcia-Sandoval B; Vazquez-Fernandez del Pozo S; Cantalapiedra D; Avila-Fernandez A; Baiget M; Ramos C; Ayuso C Invest Ophthalmol Vis Sci; 2009 Sep; 50(9):4342-50. PubMed ID: 19324861 [TBL] [Abstract][Full Text] [Related]
16. X-linked juvenile retinoschisis (XLRS): a review of genotype-phenotype relationships. Kim DY; Mukai S Semin Ophthalmol; 2013; 28(5-6):392-6. PubMed ID: 24138048 [TBL] [Abstract][Full Text] [Related]
17. X-linked retinoschisis: novel mutation in the initiation codon of the XLRS1 gene in a large family. Kim DY; Neely KA; Sassani JW; Vrabec TR; Tantri A; Frost A; Donoso LA Retina; 2006 Oct; 26(8):940-6. PubMed ID: 17031297 [TBL] [Abstract][Full Text] [Related]
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19. A novel mutation K167X of the XLRS1 gene (RS1) in a Taiwanese family with X-linked juvenile retinoschisis. Tsai FJ; Yang C; Wu JY; Lin HJ; Lee CC; Tsai CH Hum Mutat; 2000 Nov; 16(5):449. PubMed ID: 11058916 [No Abstract] [Full Text] [Related]
20. Prolonged recovery of retinal structure/function after gene therapy in an Rs1h-deficient mouse model of x-linked juvenile retinoschisis. Min SH; Molday LL; Seeliger MW; Dinculescu A; Timmers AM; Janssen A; Tonagel F; Tanimoto N; Weber BH; Molday RS; Hauswirth WW Mol Ther; 2005 Oct; 12(4):644-51. PubMed ID: 16027044 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]