These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
191 related articles for article (PubMed ID: 27739455)
1. Novel CHM mutations identified in Chinese families with Choroideremia. Cai XB; Huang XF; Tong Y; Lu QK; Jin ZB Sci Rep; 2016 Oct; 6():35360. PubMed ID: 27739455 [TBL] [Abstract][Full Text] [Related]
2. Genetic and phenotypic characteristics of three Mainland Chinese families with choroideremia. Zhou Q; Liu L; Xu F; Li H; Sergeev Y; Dong F; Jiang R; MacDonald I; Sui R Mol Vis; 2012; 18():309-16. PubMed ID: 22355242 [TBL] [Abstract][Full Text] [Related]
3. Whole-exome sequencing reveals a novel CHM gene mutation in a family with choroideremia initially diagnosed as retinitis pigmentosa. Guo H; Li J; Gao F; Li J; Wu X; Liu Q BMC Ophthalmol; 2015 Jul; 15():85. PubMed ID: 26216097 [TBL] [Abstract][Full Text] [Related]
4. Single-base substitutions in the CHM promoter as a cause of choroideremia. Radziwon A; Arno G; K Wheaton D; McDonagh EM; Baple EL; Webb-Jones K; G Birch D; Webster AR; MacDonald IM Hum Mutat; 2017 Jun; 38(6):704-715. PubMed ID: 28271586 [TBL] [Abstract][Full Text] [Related]
5. Molecular analysis of the choroideremia gene related clinical findings in two families with choroideremia. Lin Y; Liu X; Luo L; Qu B; Jiang S; Yang H; Liang X; Ye S; Liu Y Mol Vis; 2011; 17():2564-9. PubMed ID: 22025891 [TBL] [Abstract][Full Text] [Related]
7. Molecular genetics characterization and homology modeling of the CHM gene mutation: A study on its association with choroideremia. Imani S; Ijaz I; Shasaltaneh MD; Fu S; Cheng J; Fu J Mutat Res Rev Mutat Res; 2018; 775():39-50. PubMed ID: 29555028 [TBL] [Abstract][Full Text] [Related]
8. Single choroideremia gene in nonmammalian vertebrates explains early embryonic lethality of the zebrafish model of choroideremia. Moosajee M; Tulloch M; Baron RA; Gregory-Evans CY; Pereira-Leal JB; Seabra MC Invest Ophthalmol Vis Sci; 2009 Jun; 50(6):3009-16. PubMed ID: 19117920 [TBL] [Abstract][Full Text] [Related]
9. Novel CHM mutations in Polish patients with choroideremia - an orphan disease with close perspective of treatment. Skorczyk-Werner A; Wawrocka A; Kochalska N; Krawczynski MR Orphanet J Rare Dis; 2018 Dec; 13(1):221. PubMed ID: 30541579 [TBL] [Abstract][Full Text] [Related]
10. Novel truncating mutations of the CHM gene in Chinese patients with choroideremia. Yip SP; Cheung TS; Chu MY; Cheung SC; Leung KW; Tsang KP; Lam ST; To CH Mol Vis; 2007 Nov; 13():2183-93. PubMed ID: 18087237 [TBL] [Abstract][Full Text] [Related]
11. Genetic analysis of choroideremia families in the Australian population. McLaren TL; De Roach JN; Montgomery H; Hoffmann L; Kap C; Lamey TM Clin Exp Ophthalmol; 2015 Nov; 43(8):727-34. PubMed ID: 25912515 [TBL] [Abstract][Full Text] [Related]
12. Whole exome sequencing of a family revealed a novel variant in the CHM gene, c.22delG p.(Glu8Serfs*4), which co-segregated with choroideremia. Dan H; Li T; Lei X; Huang X; Xing Y; Shen Y Biosci Rep; 2020 May; 40(5):. PubMed ID: 32364220 [TBL] [Abstract][Full Text] [Related]
13. Clinical and genetic studies in a family with a new splice-site mutation in the choroideremia gene. Contestabile MT; Piane M; Cascone NC; Pasquale N; Ciarnella A; Recupero SM; Chessa L Mol Vis; 2014; 20():325-33. PubMed ID: 24672218 [TBL] [Abstract][Full Text] [Related]
14. A novel SVA retrotransposon insertion in the Jones KD; Radziwon A; Birch DG; MacDonald IM Ophthalmic Genet; 2020 Aug; 41(4):341-344. PubMed ID: 32441177 [TBL] [Abstract][Full Text] [Related]
15. Visual impairment and REP-1 gene mutations in Japanese choroideremia patients. Hayakawa M; Fujiki K; Hotta Y; Ito R; Ohki J; Ono J; Saito A; Nakayasu K; Kanai A; Ishidoh K; Kominami E; Yoshida K; Kim KC; Ohashi H Ophthalmic Genet; 1999 Jun; 20(2):107-15. PubMed ID: 10420196 [TBL] [Abstract][Full Text] [Related]
16. Rep1 copy number variation is an important genetic cause of choroideremia in Chinese patients. Zhou Q; Yao F; Han X; Li H; Yang L; Sui R Exp Eye Res; 2017 Nov; 164():64-73. PubMed ID: 28774736 [TBL] [Abstract][Full Text] [Related]
17. Clinical characteristics of a large choroideremia pedigree carrying a novel CHM mutation. Huang AS; Kim LA; Fawzi AA Arch Ophthalmol; 2012 Sep; 130(9):1184-9. PubMed ID: 22965595 [TBL] [Abstract][Full Text] [Related]