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668 related items for PubMed ID: 28752371

  • 21. Detailed retinal phenotype of Boucher-Neuhäuser syndrome associated with mutations in PNPLA6 mimicking choroideremia.
    O'Neil E, Serrano L, Scoles D, Cunningham KE, Han G, Chiang J, Bennett J, Aleman TS.
    Ophthalmic Genet; 2019 Jun; 40(3):267-275. PubMed ID: 31135245
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  • 22. 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 Jun; 17():2564-9. PubMed ID: 22025891
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  • 23. 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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  • 24. Near-infrared autofluorescence in young choroideremia patients.
    Mucciolo DP, Murro V, Giorgio D, Sodi A, Passerini I, Virgili G, Rizzo S.
    Ophthalmic Genet; 2019 Oct; 40(5):421-427. PubMed ID: 31544579
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  • 25. Large gene deletion and changes in corneal endothelial cells in a family with choroideremia.
    Lee SY, Yu WK, Lin PK.
    Invest Ophthalmol Vis Sci; 2015 Feb 26; 56(3):1887-93. PubMed ID: 25722215
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  • 26. Clinical and Genetic Findings in Korean Patients with Choroideremia.
    Jo WG, Lee CS, Han J.
    Korean J Ophthalmol; 2023 Aug 26; 37(4):285-291. PubMed ID: 37336512
    [Abstract] [Full Text] [Related]

  • 27. Whole-exome sequencing reveals a novel CHM gene mutation in a family with choroideremia initially diagnosed as retinitis pigmentosa.
    Guo H, Li J, Gao F, Li J, Wu X, Liu Q.
    BMC Ophthalmol; 2015 Jul 28; 15():85. PubMed ID: 26216097
    [Abstract] [Full Text] [Related]

  • 28. Visual impairment and REP-1 gene mutations in Japanese choroideremia patients.
    Hayakawa M, Fujiki K, Hotta Y, Ito R, Ohki J, Ono J, Saito A, Nakayasu K, Kanai A, Ishidoh K, Kominami E, Yoshida K, Kim KC, Ohashi H.
    Ophthalmic Genet; 1999 Jun 28; 20(2):107-15. PubMed ID: 10420196
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  • 29. Remodeling of the human retina in choroideremia: rab escort protein 1 (REP-1) mutations.
    Jacobson SG, Cideciyan AV, Sumaroka A, Aleman TS, Schwartz SB, Windsor EA, Roman AJ, Stone EM, MacDonald IM.
    Invest Ophthalmol Vis Sci; 2006 Sep 28; 47(9):4113-20. PubMed ID: 16936131
    [Abstract] [Full Text] [Related]

  • 30. Phenotypic variability in three carriers from a family with choroideremia and a frameshift mutation 1388delCCinsG in the REP-1 gene.
    Rudolph G, Preising M, Kalpadakis P, Haritoglou C, Lang GE, Lorenz B.
    Ophthalmic Genet; 2003 Dec 28; 24(4):203-14. PubMed ID: 14566650
    [Abstract] [Full Text] [Related]

  • 31. Sorsby Fundus Dystrophy: Novel Mutations, Novel Phenotypic Characteristics, and Treatment Outcomes.
    Gliem M, Müller PL, Mangold E, Holz FG, Bolz HJ, Stöhr H, Weber BH, Charbel Issa P.
    Invest Ophthalmol Vis Sci; 2015 Apr 28; 56(4):2664-76. PubMed ID: 25766588
    [Abstract] [Full Text] [Related]

  • 32. Visual Function and Central Retinal Structure in Choroideremia.
    Heon E, Alabduljalil T, McGuigan III DB, Cideciyan AV, Li S, Chen S, Jacobson SG.
    Invest Ophthalmol Vis Sci; 2016 Jul 01; 57(9):OCT377-87. PubMed ID: 27409497
    [Abstract] [Full Text] [Related]

  • 33. 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 01; 41(6):625-628. PubMed ID: 32835561
    [Abstract] [Full Text] [Related]

  • 34. Optical Coherence Tomography Angiography (OCT-A) in young choroideremia (CHM) patients.
    Murro V, Mucciolo DP, Giorgio D, Sodi A, Passerini I, Virgili G, Rizzo S.
    Ophthalmic Genet; 2019 Jun 01; 40(3):201-206. PubMed ID: 31135252
    [Abstract] [Full Text] [Related]

  • 35. Choroideremia Is a Systemic Disease With Lymphocyte Crystals and Plasma Lipid and RBC Membrane Abnormalities.
    Zhang AY, Mysore N, Vali H, Koenekoop J, Cao SN, Li S, Ren H, Keser V, Lopez-Solache I, Siddiqui SN, Khan A, Mui J, Sears K, Dixon J, Schwartzentruber J, Majewski J, Braverman N, Koenekoop RK.
    Invest Ophthalmol Vis Sci; 2015 Dec 01; 56(13):8158-65. PubMed ID: 26720468
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  • 36. Morphologic characteristics of the outer retina in cone dystrophy on spectral-domain optical coherence tomography.
    Cho SC, Woo SJ, Park KH, Hwang JM.
    Korean J Ophthalmol; 2013 Feb 01; 27(1):19-27. PubMed ID: 23372375
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  • 37. Multimodal assessment of choroideremia patients defines pre-treatment characteristics.
    Seitz IP, Zhour A, Kohl S, Llavona P, Peter T, Wilhelm B, Zrenner E, Ueffing M, Bartz-Schmidt KU, Fischer MD.
    Graefes Arch Clin Exp Ophthalmol; 2015 Dec 01; 253(12):2143-50. PubMed ID: 25744334
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  • 38. CLINICAL CHARACTERISTICS AND MOLECULAR GENETIC ANALYSIS OF A COHORT OF CHINESE PATIENTS WITH CHOROIDEREMIA.
    Han X, Wu S, Li H, Zhu T, Wei X, Zhou Q, Sui R.
    Retina; 2020 Nov 01; 40(11):2240-2253. PubMed ID: 31922496
    [Abstract] [Full Text] [Related]

  • 39. Patterns and Intensities of Near-Infrared and Short-Wavelength Fundus Autofluorescence in Choroideremia Probands and Carriers.
    Paavo M, Carvalho JRL, Lee W, Sengillo JD, Tsang SH, Sparrow JR.
    Invest Ophthalmol Vis Sci; 2019 Sep 03; 60(12):3752-3761. PubMed ID: 31499530
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  • 40. Multimodal Imaging of Photoreceptor Structure in Choroideremia.
    Sun LW, Johnson RD, Williams V, Summerfelt P, Dubra A, Weinberg DV, Stepien KE, Fishman GA, Carroll J.
    PLoS One; 2016 Sep 03; 11(12):e0167526. PubMed ID: 27936069
    [Abstract] [Full Text] [Related]

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