Results 181 to 190 of about 15,770 (195)

[Detection and prenatal diagnosis for RS1 gene mutations in two Chinese families with X-linked juvenile retinoschisis].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics, 2013
To identify potential mutations of retinoschisis 1 (RS1) gene responsible for X-linked retinoschisis (XLRS) in two Chinese families.The 6 exons and flanking intronic regions were analyzed with PCR and direct sequencing.Two RS1 mutations were identified in the two families, which included 1 frameshift mutation (c.573delG, p.Pro192fs) and 1 missense ...
Yan, Chu, Dong, Fang, Qiao-fang, Hou, Li-ya, Wang, Xi-rang, Guo, Ying-tai, Wang, Shi-xiu, Liao   +6 more
openaire   +1 more source

ABCA1 rs1883025 and CYP4F2 rs2108622 Gene Polymorphism Association with Age-Related Macular Degeneration and Anti-VEGF Treatment

Medicina (Lithuania), 2021
Alvita Vilkeviciute, Vilma Jurate Balciuniene, Reda Zemaitiene   +2 more
exaly  

Gene symbol: RS1. Disease: Retinoschisis, X-Linked juvenile.

Human genetics, 2008
Rosa, Riveiro-Alvarez, A, Gimenez, M J, Trujillo-Tiebas, D, Cantalapiedra, E, Vallespin, J, Aguirre-Lamban, A, Avila-Fernandez, C, Ayuso   +7 more
openaire   +2 more sources

Gene symbol: RS1. Disease: X-linked juvenile retinoschisis.

Human genetics, 2006
R, Riveiro, M J, Trujillo-Tiebas, A, Gimenez, M, Garcia-Hoyos, D, Cantalapiedra, E, Vallespin, A, Queipo, C, Ramos, C, Ayuso   +8 more
openaire   +5 more sources

Localization of mouse imprinted gene U2af1-rs1 to A3.2-4 band of Chromosome 11 by FISH

Mammalian Genome, 1994
M. Tada, T. Tada, N. Takagi, Y. Hayashizaki, H. Shibata, S. Hirotsune, Y. Okazaki, M. Muramatsu, H. Sasaki, T. Ueda, V. M. Chapman   +10 more
openaire   +2 more sources

Two cases of X-linked juvenile retinoschisis with different optical coherence tomography findings and RS1 gene mutations

Clinical and Experimental Ophthalmology, 2004
Kwong Wai Choy, weiling fu, Chi Pui Pang
exaly  

Novel human pathological mutations. Gene symbol: RS1. Disease: X-linked juvenile retinoschisis.

Human genetics, 2007
Rosa, Riveiro-Alvarez, M J, Trujillo-Tiebas, A, Gimenez, D, Cantalapiedra, E, Vallespin, J, Aguirre-Lamban, C, Villaverde, C, Ayuso   +7 more
openaire   +1 more source

A novel mutation K167X of the XLRS1 gene (RS1) in a Taiwanese family with X-linked juvenile retinoschisis

Human Mutation, 2000
F J, Tsai, C, Yang, J Y, Wu, H J, Lin, C C, Lee, C H, Tsai   +5 more
openaire   +2 more sources

Association of Single Nucleotide Polymorphism -2548 G/A (rs12112075) of leptin gene with endometrial cancer and uterine leiomyomas

European Journal of Obstetrics, Gynecology and Reproductive Biology, 2017
Jan Bieńkiewicz
exaly  

Association between the APOB rs1469513 polymorphism and obesity is modified by dietary fat intake in Koreans

Nutrition, 2015
Miae Doo, Sungho Won, Yangha Kim
exaly