Cite

1. Roberts MF, Fishman GA, Roberts DK, Heckenlively JR, Weleber RG, Anderson RJ, Grover S. Retrospective, longitudinal, and cross sectional study of visual acuity impairment in choroideraemia. Br J Ophthalmol. 2002 Jun; 86(6):658-62. PubMed PMID: 12034689; PubMed Central PMCID: PMC1771148.10.1136/bjo.86.6.658Search in Google Scholar

2. Genead MA, Fishman GA. Cystic macular oedema on spectral-domain optical coherence tomography in choroideremia patients without cystic changes on fundus examination. Eye (Lond). 2011 Jan; 25(1):84-90. PubMed PMID: 20966974. PubMed Central PMCID: PMC3020991. Epub 2010/10/22.Search in Google Scholar

3. Morgan JI, Han G, Klinman E, Maguire WM, Chung DC, Maguire AM, Bennett J. High-resolution adaptive optics retinal imaging of cellular structure in choroideremia. Invest Ophthalmol Vis Sci. 2014 Sep 4; 55(10):6381-97. PubMed PMID: 25190651; PubMed Central PMCID: PMC4193760.10.1167/iovs.13-13454Search in Google Scholar

4. Schwartz M, Rosenberg T. Prenatal diagnosis of choroideremia. ActaOphthalmolScand Suppl. 1996; (219):33-6. PubMed PMID: 8741114.10.1111/j.1600-0420.1996.tb00381.xSearch in Google Scholar

5. Yntema HG, van den Helm B, Kissing J, van Duijnhoven G, Poppelaars F, Chelly J, Moraine C, et al. A novel ribosomal S6-kinase (RSK4; RPS6KA6) is commonly deleted in patients with complex X-linked mental retardation. Genomics. 1999 Dec 15; 62(3):332-43. PubMed PMID: 10644430.10.1006/geno.1999.6004Search in Google Scholar

6. Lorda-Sanchez IJ, Ibañez AJ, Sanz RJ, Trujillo MJ, Anabitarte ME, Querejeta ME, Rodriguez de Alba M, et al. Choroideremia, sensorineural deafness, and primary ovarian failure in a woman with a balanced X-4 translocation. Ophthalmic Genet. 2000 Sep; 21(3):185-9. PubMed PMID: 11035551.10.1076/1381-6810(200009)2131-ZFT185Search in Google Scholar

7. van den Hurk JA, Schwartz M, van Bokhoven H, van de Pol TJ, Bogerd L, Pinckers AJ, Bleeker-Wagemakers EM, et al. Molecular basis of choroideremia (CHM): mutations involving the Rab escort protein- 1 (REP-1) gene. Hum Mutat. 1997; 9(2):110-7. PubMed PMID: 9067750.10.1002/(SICI)1098-1004(1997)9:2<110::AID-HUMU2>3.0.CO;2-DOpen DOISearch in Google Scholar

8. MacDonald IM, Hume S, Chan S, Seabra MC. Choroideremia. In: RA Pagon, MP Adam, HH Ardinger, SE Wallace, A Amemiya, LJH Bean, et al., editors. GeneReviews®. Seattle (WA) 1993-2017.Search in Google Scholar

9. Seabra MC, Mules EH, Hume AN. RabGTPases, intracellular traffic and disease. Trends Mol Med. 2002 Jan; 8(1):23-30. PubMed PMID: 11796263. 10.1016/S1471-4914(01)02227-4Search in Google Scholar

10. Moosajee M, Ramsden SC, Black GC, Seabra MC, Webster AR. Clinical utility gene card for: choroideremia. Eur J Hum Genet. 2014 Apr; 22(4). PubMed PMID: 23963298; PubMed Central PMCID: PMC3953909. Epub 2013/08/21.10.1038/ejhg.2013.183Search in Google Scholar

11. Fujiki K, Hotta Y, Hayakawa M, Saito A, Mashima Y, Mori M, Yoshii M, et al. REP-1 gene mutations in Japanese patients with choroideremia. Graefes Arch ClinExpOphthalmol. 1999 Sep; 237(9):735-40. PubMed PMID: 10447648.10.1007/s004170050305Search in Google Scholar

12. McTaggart KE, Tran M, Mah DY, Lai SW, Nesslinger NJ, MacDonald IM. Mutational analysis of patients with the diagnosis of choroideremia. Hum Mutat. 2002. Sep; 20(3):189-96. PubMed PMID: 1220399110.1002/humu.10114Search in Google Scholar

13. van den Hurk JA, van de Pol DJ, Wissinger B, van Driel MA, Hoefsloot LH, de Wijs IJ, van den Born LI, et al. Novel types of mutation in the choroideremia (CHM) gene: a full-length L1 insertion and an intronic mutation activating a cryptic exon. Hum Genet. 2003 Aug; 113(3):268-75. PubMed PMID: 12827496. Epub 2003/06/25.10.1007/s00439-003-0970-012827496Search in Google Scholar

14. Chen B, Gagnon M, Shahangian S, Anderson NL, Howerton DA, Boone JD. Good laboratory practices for molecular genetic testing for heritable diseases and conditions. MMWR Recomm Rep. 2009 Jun 12; 58(RR-6):1-37. PubMed PMID: 19521335.Search in Google Scholar

15. Stone EM, Aldave AJ, Drack AV, Maccumber MW, Sheffield VC, Traboulsi E, Weleber RG. Recommendations for genetic testing of inherited eye diseases: report of the American Academy of Ophthalmology task force on genetic testing. Ophthalmology. 2012 Nov; 119(11):2408-10. PubMed PMID: 22944025. Epub 2012/09/01.Search in Google Scholar

eISSN:
2564-615X
Language:
English
Publication timeframe:
4 times per year
Journal Subjects:
Life Sciences, other, Medicine, Biomedical Engineering, Physics, Nanotechnology, Biophysics