186 related articles for article (PubMed ID: 23273018)
1. 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]
2. Molecular genetic diagnostic techniques in choroideremia.
Furgoch MJ; Mewes-Arès J; Radziwon A; Macdonald IM
Mol Vis; 2014; 20():535-44. PubMed ID: 24791138
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. 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]
5. Novel non-contiguous exon duplication in choroideremia.
Edwards TL; Williams J; Patrício MI; Simunovic MP; Shanks M; Clouston P; MacLaren RE
Clin Genet; 2018 Jan; 93(1):144-148. PubMed ID: 28369842
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. Fundus autofluorescence in carriers of choroideremia and correlation with electrophysiologic and psychophysical data.
Preising MN; Wegscheider E; Friedburg C; Poloschek CM; Wabbels BK; Lorenz B
Ophthalmology; 2009 Jun; 116(6):1201-9.e1-2. PubMed ID: 19376587
[TBL] [Abstract][Full Text] [Related]
8. Choroideremia: a review of general findings and pathogenesis.
Coussa RG; Traboulsi EI
Ophthalmic Genet; 2012 Jun; 33(2):57-65. PubMed ID: 22017263
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. 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]
11. 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]
12. 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]
13. 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]
14. Genetic study in a tunisian family revealed IVS1+1G>A mutation in the CHM gene.
Ben Charfeddine I; Ben Lazreg T; Ben Rayana N; Amara A; Mamaï O; Knani L; Mili A; M'sakni A; Saad A; Ben Hadj Hamida F; Gribaa M
Ann Biol Clin (Paris); 2015; 73(4):469-73. PubMed ID: 26411914
[TBL] [Abstract][Full Text] [Related]
15. Clinical findings in a carrier of a new mutation in the choroideremia gene.
Potter MJ; Wong E; Szabo SM; McTaggart KE
Ophthalmology; 2004 Oct; 111(10):1905-9. PubMed ID: 15465555
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. A novel mutation (967-970+2)delAAAGGT in the choroideremia gene found in a Japanese family and related clinical findings.
Iino Y; Fujimaki T; Fujiki K; Murakami A
Jpn J Ophthalmol; 2008; 52(4):289-297. PubMed ID: 18773267
[TBL] [Abstract][Full Text] [Related]
18. Identification of Pathogenic Variants in the CHM Gene in Two Korean Patients With Choroideremia.
Bae K; Song JS; Lee C; Kim NKD; Park WY; Kim BJ; Ki CS; Kim SJ
Ann Lab Med; 2017 Sep; 37(5):438-442. PubMed ID: 28643494
[TBL] [Abstract][Full Text] [Related]
19. Choroideremia carriers maintain a normal electro-oculogram (EOG).
Yau RJ; Sereda CA; McTaggart KE; Sauvé Y; MacDonald IM
Doc Ophthalmol; 2007 May; 114(3):147-51. PubMed ID: 17333094
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]
