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    Results: 1 to 20 of 37

    1.

    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]
    2.

    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]
    3.

    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]
    4.

    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
    5.

    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]
    6.

    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
    7.

    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]
    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. Epub 2011 Sep 30.

    PMID:
    22025891
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    9.

    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]
    10.

    Quantitative analysis of transcript variants of CHM gene containing LTR12C element in humans.

    Jung YD, Huh JW, Kim DS, Kim YJ, Ahn K, Ha HS, Lee JR, Yi JM, Moon JW, Kim TO, Song GA, Han K, Kim HS.

    Gene. 2011 Dec 1;489(1):1-5. doi: 10.1016/j.gene.2011.09.001. Epub 2011 Sep 12.

    PMID:
    21939745
    [PubMed - indexed for MEDLINE]
    11.

    Comprehensive mutation analysis (20 families) of the choroideremia gene reveals a missense variant that prevents the binding of REP1 with Rab geranylgeranyl transferase.

    Esposito G, De Falco F, Tinto N, Testa F, Vitagliano L, Tandurella IC, Iannone L, Rossi S, Rinaldi E, Simonelli F, Zagari A, Salvatore F.

    Hum Mutat. 2011 Dec;32(12):1460-9. doi: 10.1002/humu.21591. Epub 2011 Oct 11.

    PMID:
    21905166
    [PubMed - indexed for MEDLINE]
    12.

    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.

    PMID:
    21886018
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    13.

    A dominant mutation in RPE65 identified by whole-exome sequencing causes retinitis pigmentosa with choroidal involvement.

    Bowne SJ, Humphries MM, Sullivan LS, Kenna PF, Tam LC, Kiang AS, Campbell M, Weinstock GM, Koboldt DC, Ding L, Fulton RS, Sodergren EJ, Allman D, Millington-Ward S, Palfi A, McKee A, Blanton SH, Slifer S, Konidari I, Farrar GJ, Daiger SP, Humphries P.

    Eur J Hum Genet. 2011 Oct;19(10):1074-81. doi: 10.1038/ejhg.2011.86. Epub 2011 Jun 8. Erratum in: Eur J Hum Genet. 2011 Oct;19(10):1109.

    PMID:
    21654732
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    14.

    Four systems involved with congenital abnormalities: a new type of syndromic hearing loss - ADOC Wang's syndrome?

    Wang Q, Zhao FF, Shi YB.

    Acta Otolaryngol. 2011 Oct;131(10):1117-22. doi: 10.3109/00016489.2011.589405. Epub 2011 Jun 1.

    PMID:
    21631179
    [PubMed - indexed for MEDLINE]
    15.

    Clinical findings in a choroideremia patient who underwent vitrectomy for retinal detachment associated with macular hole.

    Shinoda H, Koto T, Fujiki K, Murakami A, Tsubota K, Ozawa Y.

    Jpn J Ophthalmol. 2011 Mar;55(2):169-71. doi: 10.1007/s10384-010-0911-0. Epub 2011 Mar 13. No abstract available.

    PMID:
    21400066
    [PubMed - indexed for MEDLINE]
    16.

    Retinal nerve fiber thickness measurements in choroideremia patients with spectral-domain optical coherence tomography.

    Genead MA, McAnany JJ, Fishman GA.

    Ophthalmic Genet. 2011 Jun;32(2):101-6. doi: 10.3109/13816810.2010.544364. Epub 2011 Jan 26.

    PMID:
    21268676
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    17.

    Microperimetry and OCT findings in female carriers of choroideremia.

    Thobani A, Anastasakis A, Fishman GA.

    Ophthalmic Genet. 2010 Dec;31(4):235-9. doi: 10.3109/13816810.2010.518578.

    PMID:
    21067487
    [PubMed - indexed for MEDLINE]
    18.

    Choroideremia in a woman with ectodermal dysplasia and complex translocations involving chromosomes X, 1, and 3.

    Mukkamala K, Gentile RC, Willner J, Tsang S.

    Ophthalmic Genet. 2010 Dec;31(4):178-82. doi: 10.3109/13816810.2010.497529.

    PMID:
    21067479
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    19.

    Ultra-wide-field and autofluorescence imaging of choroidal dystrophies.

    Yuan A, Kaines A, Jain A, Reddy S, Schwartz SD, Sarraf D.

    Ophthalmic Surg Lasers Imaging. 2010 Oct 28;41 Online:e1-5. doi: 10.3928/15428877-20101025-10.

    PMID:
    21053862
    [PubMed - indexed for MEDLINE]
    20.

    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.

    PMID:
    20966974
    [PubMed - indexed for MEDLINE]
    Free PMC Article

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