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Journal Abstract Search
465 related items for PubMed ID: 33988224
1. Targeted next-generation sequencing identifies ABCA4 mutations in Chinese families with childhood-onset and adult-onset Stargardt disease. Qu LH, Jin X, Zeng C, Zhou NG, Liu YH, Lin Y. Biosci Rep; 2021 Jun 25; 41(6):. PubMed ID: 33988224 [Abstract] [Full Text] [Related]
2. Novel variants associated with Stargardt disease in Chinese patients. Hu F, Gao F, Li J, Xu P, Wang D, Chen F, Zhang S, Wu J. Gene; 2020 Sep 05; 754():144890. PubMed ID: 32534057 [Abstract] [Full Text] [Related]
3. Novel variants of ABCA4 in Han Chinese families with Stargardt disease. Hu FY, Gao FJ, Li JK, Xu P, Wang DD, Zhang SH, Wu JH. BMC Med Genet; 2020 Oct 31; 21(1):213. PubMed ID: 33129279 [Abstract] [Full Text] [Related]
4. Application of targeted exome and whole-exome sequencing for Chinese families with Stargardt disease. Dan H, Huang X, Xing Y, Shen Y. Ann Hum Genet; 2020 Mar 31; 84(2):177-184. PubMed ID: 31674661 [Abstract] [Full Text] [Related]
5. Novel compound heterozygous mutations in ABCA4 in a Chinese pedigree with Stargardt disease. Zhang J, Qi A, Wang X, Pan H, Mo H, Huang J, Li H, Chen Z, Wei M, Wang B. Mol Vis; 2016 Mar 31; 22():1514-1521. PubMed ID: 28050124 [Abstract] [Full Text] [Related]
7. Identification of Genetic Defects in 33 Probands with Stargardt Disease by WES-Based Bioinformatics Gene Panel Analysis. Xin W, Xiao X, Li S, Jia X, Guo X, Zhang Q. PLoS One; 2015 Mar 31; 10(7):e0132635. PubMed ID: 26161775 [Abstract] [Full Text] [Related]
8. Clinical and molecular characteristics of childhood-onset Stargardt disease. Fujinami K, Zernant J, Chana RK, Wright GA, Tsunoda K, Ozawa Y, Tsubota K, Robson AG, Holder GE, Allikmets R, Michaelides M, Moore AT. Ophthalmology; 2015 Feb 31; 122(2):326-34. PubMed ID: 25312043 [Abstract] [Full Text] [Related]
9. Clinical and genetic analysis of the ABCA4 gene associated retinal dystrophy in a large Chinese cohort. Sun Z, Yang L, Li H, Zou X, Wang L, Wu S, Zhu T, Wei X, Zhong Y, Sui R. Exp Eye Res; 2021 Jan 31; 202():108389. PubMed ID: 33301772 [Abstract] [Full Text] [Related]
11. Comprehensive analysis of patients with Stargardt macular dystrophy reveals new genotype-phenotype correlations and unexpected diagnostic revisions. Zaneveld J, Siddiqui S, Li H, Wang X, Wang H, Wang K, Li H, Ren H, Lopez I, Dorfman A, Khan A, Wang F, Salvo J, Gelowani V, Li Y, Sui R, Koenekoop R, Chen R. Genet Med; 2015 Apr 31; 17(4):262-70. PubMed ID: 25474345 [Abstract] [Full Text] [Related]
12. Association between genotype and phenotype in families with mutations in the ABCA4 gene. Kjellström U. Mol Vis; 2014 Apr 31; 20():89-104. PubMed ID: 24453473 [Abstract] [Full Text] [Related]
14. Genotype-Phenotype Correlations in a Spanish Cohort of 506 Families With Biallelic ABCA4 Pathogenic Variants. Del Pozo-Valero M, Riveiro-Alvarez R, Blanco-Kelly F, Aguirre-Lamban J, Martin-Merida I, Iancu IF, Swafiri S, Lorda-Sanchez I, Rodriguez-Pinilla E, Trujillo-Tiebas MJ, Jimenez-Rolando B, Carreño E, Mahillo-Fernandez I, Rivolta C, Corton M, Avila-Fernandez A, Garcia-Sandoval B, Ayuso C. Am J Ophthalmol; 2020 Nov 31; 219():195-204. PubMed ID: 32619608 [Abstract] [Full Text] [Related]