187 related articles for article (PubMed ID: 24791138)
1. 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]
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]
7. CHM mutation spectrum and disease: An update at the time of human therapeutic trials.
Zeitz C; Nassisi M; Laurent-Coriat C; Andrieu C; Boyard F; Condroyer C; Démontant V; Antonio A; Lancelot ME; Frederiksen H; Kloeckener-Gruissem B; El-Shamieh S; Zanlonghi X; Meunier I; Roux AF; Mohand-Saïd S; Sahel JA; Audo I
Hum Mutat; 2021 Apr; 42(4):323-341. PubMed ID: 33538369
[TBL] [Abstract][Full Text] [Related]
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]
15. Association of Messenger RNA Level With Phenotype in Patients With Choroideremia: Potential Implications for Gene Therapy Dose.
Fry LE; Patrício MI; Williams J; Aylward JW; Hewitt H; Clouston P; Xue K; Barnard AR; MacLaren RE
JAMA Ophthalmol; 2020 Feb; 138(2):128-135. PubMed ID: 31855248
[TBL] [Abstract][Full Text] [Related]
16. 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]
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]
18. 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]
19. 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]
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]