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Items: 1 to 20 of 28

1.

Choroideremia associated with choroidal neovascularization treated with intravitreal bevacizumab.

Palejwala NV, Lauer AK, Weleber RG.

Clin Ophthalmol. 2014 Sep 1;8:1675-9. doi: 10.2147/OPTH.S68243. eCollection 2014.

2.

High-resolution adaptive optics retinal imaging of cellular structure in choroideremia.

Morgan JI, Han G, Klinman E, Maguire WM, Chung DC, Maguire AM, Bennett J.

Invest Ophthalmol Vis Sci. 2014 Sep 4;55(10):6381-97. doi: 10.1167/iovs.13-13454.

3.

Adeno-associated virus 8-mediated gene therapy for choroideremia: preclinical studies in in vitro and in vivo models.

Black A, Vasireddy V, Chung DC, Maguire AM, Gaddameedi R, Tolmachova T, Seabra M, Bennett J.

J Gene Med. 2014 May-Jun;16(5-6):122-30. doi: 10.1002/jgm.2768.

4.

Retinal gene therapy in patients with choroideremia: initial findings from a phase 1/2 clinical trial.

MacLaren RE, Groppe M, Barnard AR, Cottriall CL, Tolmachova T, Seymour L, Clark KR, During MJ, Cremers FP, Black GC, Lotery AJ, Downes SM, Webster AR, Seabra MC.

Lancet. 2014 Mar 29;383(9923):1129-37. doi: 10.1016/S0140-6736(13)62117-0. Epub 2014 Jan 16.

5.

Clinical utility gene card for: choroideremia.

Moosajee M, Ramsden SC, Black GC, Seabra MC, Webster AR.

Eur J Hum Genet. 2014 Apr;22(4). doi: 10.1038/ejhg.2013.183. Epub 2013 Aug 21. No abstract available.

6.

AAV-mediated gene therapy for choroideremia: preclinical studies in personalized models.

Vasireddy V, Mills JA, Gaddameedi R, Basner-Tschakarjan E, Kohnke M, Black AD, Alexandrov K, Zhou S, Maguire AM, Chung DC, Mac H, Sullivan L, Gadue P, Bennicelli JL, French DL, Bennett J.

PLoS One. 2013 May 7;8(5):e61396. doi: 10.1371/journal.pone.0061396. Print 2013. Erratum in: PLoS One. 2015;10(6):e0129982.

7.

Topical dorzolamide for treatment of cystoid macular edema in patients with choroideremia.

Genead MA, McAnany JJ, Fishman GA.

Retina. 2012 Apr;32(4):826-33. doi: 10.1097/IAE.0b013e3182215ae9.

8.

Cystic macular oedema on spectral-domain optical coherence tomography in choroideremia patients without cystic changes on fundus examination.

Genead MA, Fishman GA.

Eye (Lond). 2011 Jan;25(1):84-90. doi: 10.1038/eye.2010.157. Epub 2010 Oct 22.

9.

The functional effect of pathogenic mutations in Rab escort protein 1.

Sergeev YV, Smaoui N, Sui R, Stiles D, Gordiyenko N, Strunnikova N, Macdonald IM.

Mutat Res. 2009 Jun 1;665(1-2):44-50. doi: 10.1016/j.mrfmmm.2009.02.015. Epub 2009 Mar 13.

10.

Choroideremia: new findings from ocular pathology and review of recent literature.

MacDonald IM, Russell L, Chan CC.

Surv Ophthalmol. 2009 May-Jun;54(3):401-7. doi: 10.1016/j.survophthal.2009.02.008. Review.

11.

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. doi: 10.1016/j.ophtha.2009.01.016. Epub 2009 Apr 19.

PMID:
19376587
12.

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. Epub 2007 Mar 1.

PMID:
17333094
13.

Reading speed of patients with advanced retinitis pigmentosa or choroideremia.

Sandberg MA, Gaudio AR.

Retina. 2006 Jan;26(1):80-8.

PMID:
16395143
14.

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.

PMID:
12956277
15.

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. Epub 2003 Jun 25.

PMID:
12827496
16.

Gene therapy for choroideremia: in vitro rescue mediated by recombinant adenovirus.

Anand V, Barral DC, Zeng Y, Brunsmann F, Maguire AM, Seabra MC, Bennett J.

Vision Res. 2003 Apr;43(8):919-26.

17.

Mutational analysis of patients with the diagnosis of choroideremia.

McTaggart KE, Tran M, Mah DY, Lai SW, Nesslinger NJ, MacDonald IM.

Hum Mutat. 2002 Sep;20(3):189-96.

PMID:
12203991
18.

Retrospective, longitudinal, and cross sectional study of visual acuity impairment in choroideraemia.

Roberts MF, Fishman GA, Roberts DK, Heckenlively JR, Weleber RG, Anderson RJ, Grover S.

Br J Ophthalmol. 2002 Jun;86(6):658-62.

19.

Rab GTPases, intracellular traffic and disease.

Seabra MC, Mules EH, Hume AN.

Trends Mol Med. 2002 Jan;8(1):23-30. Review.

PMID:
11796263
20.

Choroideremia, sensorineural deafness, and primary ovarian failure in a woman with a balanced X-4 translocation.

Lorda-Sanchez IJ, Ibañez AJ, Sanz RJ, Trujillo MJ, Anabitarte ME, Querejeta ME, Rodriguez de Alba M, Gimenez A, Infantes F, Ramos C, Garcia-Sandoval B, Ayuso C.

Ophthalmic Genet. 2000 Sep;21(3):185-9.

PMID:
11035551

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