192 related articles for article (PubMed ID: 29367200)
1. Novel mutation in the choroideremia gene and multi-Mendelian phenotypes in Spanish families.
de Castro-Miró M; Tonda R; Marfany G; Casaroli-Marano RP; Gonzàlez-Duarte R
Br J Ophthalmol; 2018 Oct; 102(10):1378-1386. PubMed ID: 29367200
[TBL] [Abstract][Full Text] [Related]
2. Retinal dystrophy and subretinal drusenoid deposits in female choroideremia carriers.
Murro V; Mucciolo DP; Passerini I; Palchetti S; Sodi A; Virgili G; Rizzo S
Graefes Arch Clin Exp Ophthalmol; 2017 Nov; 255(11):2099-2111. PubMed ID: 28752371
[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. The Spectrum of CHM Gene Mutations in Choroideremia and Their Relationship to Clinical Phenotype.
Simunovic MP; Jolly JK; Xue K; Edwards TL; Groppe M; Downes SM; MacLaren RE
Invest Ophthalmol Vis Sci; 2016 Nov; 57(14):6033-6039. PubMed ID: 27820636
[TBL] [Abstract][Full Text] [Related]
5. Genetic analysis and clinical phenotype of two Indian families with X-linked choroideremia.
Battu R; Jeyabalan N; Murthy P; Reddy KS; Schouten JS; Webers CA
Indian J Ophthalmol; 2016 Dec; 64(12):924-929. PubMed ID: 28112135
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. Exome sequencing reveals CHM mutations in six families with atypical choroideremia initially diagnosed as retinitis pigmentosa.
Li S; Guan L; Fang S; Jiang H; Xiao X; Yang J; Wang P; Yin Y; Guo X; Wang J; Zhang J; Zhang Q
Int J Mol Med; 2014 Aug; 34(2):573-7. PubMed ID: 24913019
[TBL] [Abstract][Full Text] [Related]
8. Next-generation sequencing-based clinical diagnosis of choroideremia and comprehensive mutational and clinical analyses.
Gao FJ; Tian GH; Hu FY; Wang DD; Li JK; Chang Q; Chen F; Xu GZ; Liu W; Wu JH
BMC Ophthalmol; 2020 Jun; 20(1):212. PubMed ID: 32487042
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. Peculiar Clinical Findings in Young Choroideremia Patients: A Retrospective Case Review.
Mucciolo DP; Murro V; Sodi A; Passerini I; Giorgio D; Virgili G; Rizzo S
Ophthalmologica; 2019; 242(4):195-207. PubMed ID: 31416074
[TBL] [Abstract][Full Text] [Related]
11. Choroideremia Is a Systemic Disease With Lymphocyte Crystals and Plasma Lipid and RBC Membrane Abnormalities.
Zhang AY; Mysore N; Vali H; Koenekoop J; Cao SN; Li S; Ren H; Keser V; Lopez-Solache I; Siddiqui SN; Khan A; Mui J; Sears K; Dixon J; Schwartzentruber J; Majewski J; Braverman N; Koenekoop RK
Invest Ophthalmol Vis Sci; 2015 Dec; 56(13):8158-65. PubMed ID: 26720468
[TBL] [Abstract][Full Text] [Related]
12. High-resolution images of retinal structure in patients with choroideremia.
Syed R; Sundquist SM; Ratnam K; Zayit-Soudry S; Zhang Y; Crawford JB; MacDonald IM; Godara P; Rha J; Carroll J; Roorda A; Stepien KE; Duncan JL
Invest Ophthalmol Vis Sci; 2013 Feb; 54(2):950-61. PubMed ID: 23299470
[TBL] [Abstract][Full Text] [Related]
13. Autofluorescence in female carriers with choroideremia: A familial case with a novel mutation in the
Ortiz-Ramirez GY; Villanueva-Mendoza C; Zenteno Ruiz JC; Reyes M; Cortés-González V
Ophthalmic Genet; 2020 Dec; 41(6):625-628. PubMed ID: 32835561
[TBL] [Abstract][Full Text] [Related]
14. Clinical and Genetic Findings in Korean Patients with Choroideremia.
Jo WG; Lee CS; Han J
Korean J Ophthalmol; 2023 Aug; 37(4):285-291. PubMed ID: 37336512
[TBL] [Abstract][Full Text] [Related]
15. Spectrum of Disease Severity and Phenotype in Choroideremia Carriers.
Jauregui R; Park KS; Tanaka AJ; Cho A; Paavo M; Zernant J; Francis JH; Allikmets R; Sparrow JR; Tsang SH
Am J Ophthalmol; 2019 Nov; 207():77-86. PubMed ID: 31181178
[TBL] [Abstract][Full Text] [Related]
16. Choroideremia: variability of clinical and electrophysiological characteristics and first report of a negative electroretinogram.
Renner AB; Kellner U; Cropp E; Preising MN; MacDonald IM; van den Hurk JA; Cremers FP; Foerster MH
Ophthalmology; 2006 Nov; 113(11):2066.e1-10. PubMed ID: 16935340
[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]
18. Clinical diagnoses that overlap with choroideremia.
Lee TK; McTaggart KE; Sieving PA; Heckenlively JR; Levin AV; Greenberg J; Weleber RG; Tong PY; Anhalt EF; Powell BR; MacDonald IM
Can J Ophthalmol; 2003 Aug; 38(5):364-72; quiz 372. PubMed ID: 12956277
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. Clinical Manifestations and Genetic Analysis of 5 Korean Choroideremia Patients Initially Diagnosed With Retinitis Pigmentosa.
Kim JH; Han JW; Choi EW; Bang JH; Shin HJ; Jang MA; Lee JY; Choi JN; Chang HS; Park TK
J Korean Med Sci; 2022 Jan; 37(3):e5. PubMed ID: 35040292
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]