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Journal Abstract Search


306 related items for PubMed ID: 15465555

  • 21. Clinical and genetic studies in a family with a new splice-site mutation in the choroideremia gene.
    Contestabile MT, Piane M, Cascone NC, Pasquale N, Ciarnella A, Recupero SM, Chessa L.
    Mol Vis; 2014; 20():325-33. PubMed ID: 24672218
    [Abstract] [Full Text] [Related]

  • 22. A practical diagnostic test for choroideremia.
    MacDonald IM, Mah DY, Ho YK, Lewis RA, Seabra MC.
    Ophthalmology; 1998 Sep; 105(9):1637-40. PubMed ID: 9754170
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  • 23. Autofluorescence in female carriers with choroideremia: A familial case with a novel mutation in the CHM gene.
    Ortiz-Ramirez GY, Villanueva-Mendoza C, Zenteno Ruiz JC, Reyes M, Cortés-González V.
    Ophthalmic Genet; 2020 Dec; 41(6):625-628. PubMed ID: 32835561
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  • 24. Cone dystrophy with supernormal rod response is strictly associated with mutations in KCNV2.
    Wissinger B, Dangel S, Jägle H, Hansen L, Baumann B, Rudolph G, Wolf C, Bonin M, Koeppen K, Ladewig T, Kohl S, Zrenner E, Rosenberg T.
    Invest Ophthalmol Vis Sci; 2008 Feb; 49(2):751-7. PubMed ID: 18235024
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  • 25. 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. PubMed ID: 17333094
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  • 27. A substitution of G to C in the cone cGMP-phosphodiesterase gamma subunit gene found in a distinctive form of cone dystrophy.
    Piri N, Gao YQ, Danciger M, Mendoza E, Fishman GA, Farber DB.
    Ophthalmology; 2005 Jan; 112(1):159-66. PubMed ID: 15629837
    [Abstract] [Full Text] [Related]

  • 28. Maculopathy due to the R345W substitution in fibulin-3: distinct clinical features, disease variability, and extent of retinal dysfunction.
    Michaelides M, Jenkins SA, Brantley MA, Andrews RM, Waseem N, Luong V, Gregory-Evans K, Bhattacharya SS, Fitzke FW, Webster AR.
    Invest Ophthalmol Vis Sci; 2006 Jul; 47(7):3085-97. PubMed ID: 16799055
    [Abstract] [Full Text] [Related]

  • 29. Pseudoxanthoma elasticum with generalized retinal dysfunction, a common finding?
    Audo I, Vanakker OM, Smith A, Leroy BP, Robson AG, Jenkins SA, Coucke PJ, Bird AC, De Paepe A, Holder GE, Webster AR.
    Invest Ophthalmol Vis Sci; 2007 Sep; 48(9):4250-6. PubMed ID: 17724214
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  • 30. [Diagnosis and differential diagnosis of acute zonal occult outer retinopathy].
    Song ZM, Sheng YJ, Chen QS, Xue AQ, Lin B, Li YZ, Shen LJ.
    Zhonghua Yan Ke Za Zhi; 2006 Aug; 42(8):717-23. PubMed ID: 17081444
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  • 32. [Quality of life in patients suffering from choroideremia].
    Pojda-Wilczek D, Herba E, Pojda SM, Makowiecka-Obidzińska K.
    Klin Oczna; 2005 Aug; 107(1-3):130-2. PubMed ID: 16052824
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  • 36. [Diffuse atrophy of the choroid--a case report].
    Filemonowicz-Skoczek A, Kubicka-Trzaska A, Karska-Basta I, Kobylarz J, Romanowska-Dixon B.
    Klin Oczna; 2007 Aug; 109(4-6):216-9. PubMed ID: 17725291
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  • 38. 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 Aug; 73(4):469-73. PubMed ID: 26411914
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