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PUBMED FOR HANDHELDS

Journal Abstract Search


145 related items for PubMed ID: 14566650

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  • 43. Detection of mosaic retinal dysfunction in choroideremia carriers electroretinographic and psychophysical testing.
    Vajaranant TS, Fishman GA, Szlyk JP, Grant-Jordan P, Lindeman M, Seiple W.
    Ophthalmology; 2008 Apr; 115(4):723-9. PubMed ID: 18201765
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  • 45. Clinical and Electrophysiologic Characteristics of a Large Kindred with X-Linked Retinitis Pigmentosa Associated with the RPGR Locus.
    Tzu JH, Arguello T, Berrocal AM, Berrocal M, Weisman AD, Liu M, Hess D, Caputo M, Goldberg JL, Feuer WJ, Stone EM, Lam BL.
    Ophthalmic Genet; 2015 Apr; 36(4):321-6. PubMed ID: 24555744
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  • 51. Genetic study in a tunisian family revealed IVS1+1G>A mutation in the CHM gene.
    Ben Charfeddine I, Ben Lazreg T, Ben Rayana N, Amara A, Mamaï O, Knani L, Mili A, M'sakni A, Saad A, Ben Hadj Hamida F, Gribaa M.
    Ann Biol Clin (Paris); 2015 Apr; 73(4):469-73. PubMed ID: 26411914
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  • 52. Insights into Retinal Development Using Live Imaging in Female Carriers of Choroideremia.
    Wert KJ, Bakall B, Bassuk AG, Tsang SH, Mahajan VB.
    Ophthalmic Surg Lasers Imaging Retina; 2019 May 01; 50(5):e158-e162. PubMed ID: 31100169
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  • 53. Structure of the Rab7:REP-1 complex: insights into the mechanism of Rab prenylation and choroideremia disease.
    Rak A, Pylypenko O, Niculae A, Pyatkov K, Goody RS, Alexandrov K.
    Cell; 2004 Jun 11; 117(6):749-60. PubMed ID: 15186776
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  • 55. Comparison of intraocular light scatter in carriers of choroideremia and X-linked retinitis pigmentosa.
    Grover S, Alexander KR, Fishman GA, Ryan J.
    Ophthalmology; 2002 Jan 11; 109(1):159-63. PubMed ID: 11772598
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  • 57. REP-2, a Rab escort protein encoded by the choroideremia-like gene.
    Cremers FP, Armstrong SA, Seabra MC, Brown MS, Goldstein JL.
    J Biol Chem; 1994 Jan 21; 269(3):2111-7. PubMed ID: 8294464
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  • 60. An atypical phenotype of macular and peripapillary retinal atrophy caused by a mutation in the RP2 gene.
    Dandekar SS, Ebenezer ND, Grayson C, Chapple JP, Egan CA, Holder GE, Jenkins SA, Fitzke FW, Cheetham ME, Webster AR, Hardcastle AJ.
    Br J Ophthalmol; 2004 Apr 21; 88(4):528-32. PubMed ID: 15031171
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