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Results: 1 to 20 of 38

1.

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.

PMID:
24439297
[PubMed - indexed for MEDLINE]
2.

Extraction of retinal tacks from subjects implanted with an epiretinal visual prosthesis.

de Juan E Jr, Spencer R, Barale PO, da Cruz L, Neysmith J.

Graefes Arch Clin Exp Ophthalmol. 2013 Oct;251(10):2471-6. doi: 10.1007/s00417-013-2452-y. Epub 2013 Sep 8.

PMID:
24013578
[PubMed - indexed for MEDLINE]
3.

Exome sequencing of index patients with retinal dystrophies as a tool for molecular diagnosis.

Corton M, Nishiguchi KM, Avila-Fernández A, Nikopoulos K, Riveiro-Alvarez R, Tatu SD, Ayuso C, Rivolta C.

PLoS One. 2013 Jun 14;8(6):e65574. doi: 10.1371/journal.pone.0065574. Print 2013.

PMID:
23940504
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

Lyonization in ophthalmology.

Wuthisiri W, Lingao MD, Capasso JE, Levin AV.

Curr Opin Ophthalmol. 2013 Sep;24(5):389-97. doi: 10.1097/ICU.0b013e3283641f91. Review.

PMID:
23892913
[PubMed - indexed for MEDLINE]
5.

Choroideremia: towards a therapy.

Kalatzis V, Hamel CP, MacDonald IM; First International Choroideremia Research Symposium.

Am J Ophthalmol. 2013 Sep;156(3):433-7.e3. doi: 10.1016/j.ajo.2013.05.009. Epub 2013 Jun 28.

PMID:
23810476
[PubMed - indexed for MEDLINE]
6.

Functional expression of Rab escort protein 1 following AAV2-mediated gene delivery in the retina of choroideremia mice and human cells ex vivo.

Tolmachova T, Tolmachov OE, Barnard AR, de Silva SR, Lipinski DM, Walker NJ, Maclaren RE, Seabra MC.

J Mol Med (Berl). 2013 Jul;91(7):825-37. doi: 10.1007/s00109-013-1006-4. Epub 2013 Jun 12.

PMID:
23756766
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

Outer retinal tubulation in degenerative retinal disorders.

Goldberg NR, Greenberg JP, Laud K, Tsang S, Freund KB.

Retina. 2013 Oct;33(9):1871-6. doi: 10.1097/IAE.0b013e318296b12f.

PMID:
23676993
[PubMed - indexed for MEDLINE]
8.

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.

PMID:
23667438
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

Macular hole surgery in patients with end-stage choroideremia.

Zinkernagel MS, Groppe M, MacLaren RE.

Ophthalmology. 2013 Aug;120(8):1592-6. doi: 10.1016/j.ophtha.2013.01.013. Epub 2013 Apr 4.

PMID:
23562166
[PubMed - indexed for MEDLINE]
10.

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 1;54(2):950-61. doi: 10.1167/iovs.12-10707.

PMID:
23299470
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

An internet-based health survey on the co-morbidities of choroideremia patients.

Zhou Q, Weis E, Ye M, Benjaminy S, MacDonald IM.

Ophthalmic Physiol Opt. 2013 Mar;33(2):157-63. doi: 10.1111/opo.12023. Epub 2013 Jan 9.

PMID:
23297843
[PubMed - indexed for MEDLINE]
12.

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. doi: 10.3109/13816810.2012.752016. Epub 2012 Dec 28.

PMID:
23273018
[PubMed - indexed for MEDLINE]
13.

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. doi: 10.1001/archophthalmol.2012.1117.

PMID:
22965595
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

Gyrate atrophy: clinical and genetic findings in a female without arginine-restricted diet during her first 39 years of life and report of a new OAT gene mutation.

Renner AB, Walter A, Fiebig BS, Jägle H.

Doc Ophthalmol. 2012 Aug;125(1):81-9. doi: 10.1007/s10633-012-9335-0. Epub 2012 Jun 7.

PMID:
22674428
[PubMed - indexed for MEDLINE]
15.

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. Epub 2012 Feb 3.

PMID:
22355242
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

Serum biomarkers and trafficking defects in peripheral tissues reflect the severity of retinopathy in three brothers affected by choroideremia.

Strunnikova N, Zein WM, Silvin C, MacDonald IM.

Adv Exp Med Biol. 2012;723:381-7. doi: 10.1007/978-1-4614-0631-0_49. No abstract available.

PMID:
22183356
[PubMed - indexed for MEDLINE]
17.

Transition zones between healthy and diseased retina in choroideremia (CHM) and Stargardt disease (STGD) as compared to retinitis pigmentosa (RP).

Lazow MA, Hood DC, Ramachandran R, Burke TR, Wang YZ, Greenstein VC, Birch DG.

Invest Ophthalmol Vis Sci. 2011 Dec 20;52(13):9581-90. doi: 10.1167/iovs.11-8554.

PMID:
22076985
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

Choroideremia: effect of age on visual acuity in patients and female carriers.

Coussa RG, Kim J, Traboulsi EI.

Ophthalmic Genet. 2012 Jun;33(2):66-73. doi: 10.3109/13816810.2011.623261. Epub 2011 Nov 7.

PMID:
22060191
[PubMed - indexed for MEDLINE]
19.

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. Epub 2011 Sep 30.

PMID:
22025891
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

Choroideremia: a review of general findings and pathogenesis.

Coussa RG, Traboulsi EI.

Ophthalmic Genet. 2012 Jun;33(2):57-65. doi: 10.3109/13816810.2011.620056. Epub 2011 Oct 21. Review.

PMID:
22017263
[PubMed - indexed for MEDLINE]

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