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2. Copy number variant analysis in CHM to detect duplications underlying choroideremia. Chi JY; MacDonald IM; Hume S Ophthalmic Genet; 2013 Dec; 34(4):229-33. PubMed ID: 23273018 [TBL] [Abstract][Full Text] [Related]
3. A practical diagnostic test for choroideremia. MacDonald IM; Mah DY; Ho YK; Lewis RA; Seabra MC Ophthalmology; 1998 Sep; 105(9):1637-40. PubMed ID: 9754170 [TBL] [Abstract][Full Text] [Related]
4. 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]
5. 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]
6. 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]
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8. 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]
9. 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]
10. Novel types of mutation in the choroideremia ( CHM) gene: a full-length L1 insertion and an intronic mutation activating a cryptic exon. van den Hurk JA; van de Pol DJ; Wissinger B; van Driel MA; Hoefsloot LH; de Wijs IJ; van den Born LI; Heckenlively JR; Brunner HG; Zrenner E; Ropers HH; Cremers FP Hum Genet; 2003 Aug; 113(3):268-75. PubMed ID: 12827496 [TBL] [Abstract][Full Text] [Related]
11. 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]
12. 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]
13. New type of mutations in three spanish families with choroideremia. Garcia-Hoyos M; Lorda-Sanchez I; Gómez-Garre P; Villaverde C; Cantalapiedra D; Bustamante A; Diego-Alvarez D; Vallespin E; Gallego-Merlo J; Trujillo MJ; Ramos C; Ayuso C Invest Ophthalmol Vis Sci; 2008 Apr; 49(4):1315-21. PubMed ID: 18385043 [TBL] [Abstract][Full Text] [Related]
14. No missense mutation in choroideremia patients analyzed to date. Beaufrère L; Claustres M; Tuffery S Ophthalmic Genet; 1999 Jun; 20(2):89-93. PubMed ID: 10420193 [TBL] [Abstract][Full Text] [Related]
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17. Progression of retinal pigment epithelial alterations during long-term follow-up in female carriers of choroideremia and report of a novel CHM mutation. Renner AB; Fiebig BS; Cropp E; Weber BH; Kellner U Arch Ophthalmol; 2009 Jul; 127(7):907-12. PubMed ID: 19597113 [TBL] [Abstract][Full Text] [Related]
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20. A frameshift mutation in the CHM gene causes choroideremia with acute angle‑closure glaucoma. Ouyang P; Li Y; Zhang F; Zhu C; Zou B; Le J; Zhang L Mol Med Rep; 2018 Jun; 17(6):7918-7924. PubMed ID: 29620233 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]