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Journal Abstract Search

361 related items for PubMed ID: 33633436

  • 1. Clinical and genetic investigations of three Moroccan families with retinitis pigmentosa phenotypes.
    Bouzidi A, Charif M, Bouzidi A, Amalou G, Kandil M, Barakat A, Lenaers G.
    Mol Vis; 2021; 27():17-25. PubMed ID: 33633436
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  • 6. Identification of CRB1 mutations in two Chinese consanguineous families exhibiting autosomal recessive retinitis pigmentosa.
    Guo X, Li J, Wang Q, Shu Y, Wang J, Chen L, Zhang H, Shi Y, Yang J, Lu F, Jiang L, Qu C, Gong B.
    Mol Med Rep; 2019 Sep; 20(3):2922-2928. PubMed ID: 31322236
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  • 7. Genetic heterogeneity and consanguinity lead to a "double hit": homozygous mutations of MYO7A and PDE6B in a patient with retinitis pigmentosa.
    Goldenberg-Cohen N, Banin E, Zalzstein Y, Cohen B, Rotenstreich Y, Rizel L, Basel-Vanagaite L, Ben-Yosef T.
    Mol Vis; 2013 Sep; 19():1565-71. PubMed ID: 23882135
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  • 8. Increased Plasma cGMP in a Family With Autosomal Recessive Retinitis Pigmentosa Due to Homozygous Mutations in the PDE6A Gene.
    Kjellström U, Veiga-Crespo P, Andréasson S, Ekström P.
    Invest Ophthalmol Vis Sci; 2016 Nov 01; 57(14):6048-6057. PubMed ID: 27820873
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  • 9. Longitudinal Clinical Follow-up and Genetic Spectrum of Patients With Rod-Cone Dystrophy Associated With Mutations in PDE6A and PDE6B.
    Khateb S, Nassisi M, Bujakowska KM, Méjécase C, Condroyer C, Antonio A, Foussard M, Démontant V, Mohand-Saïd S, Sahel JA, Zeitz C, Audo I.
    JAMA Ophthalmol; 2019 Jun 01; 137(6):669-679. PubMed ID: 30998820
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  • 10. Genotypic and Phenotypic Characteristics of CRB1-Associated Retinal Dystrophies: A Long-Term Follow-up Study.
    Talib M, van Schooneveld MJ, van Genderen MM, Wijnholds J, Florijn RJ, Ten Brink JB, Schalij-Delfos NE, Dagnelie G, Cremers FPM, Wolterbeek R, Fiocco M, Thiadens AA, Hoyng CB, Klaver CC, Bergen AA, Boon CJF.
    Ophthalmology; 2017 Jun 01; 124(6):884-895. PubMed ID: 28341475
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  • 11. Clinical Phenotype of PDE6B-Associated Retinitis Pigmentosa.
    Kuehlewein L, Zobor D, Stingl K, Kempf M, Nasser F, Bernd A, Biskup S, Cremers FPM, Khan MI, Mazzola P, Schäferhoff K, Heinrich T, Haack TB, Wissinger B, Zrenner E, Weisschuh N, Kohl S.
    Int J Mol Sci; 2021 Feb 27; 22(5):. PubMed ID: 33673512
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  • 12. Novel REEP6 gene mutation associated with autosomal recessive retinitis pigmentosa.
    Lin Y, Xu CL, Velez G, Yang J, Tanaka AJ, Breazzano MP, Mahajan VB, Sparrow JR, Tsang SH.
    Doc Ophthalmol; 2020 Feb 27; 140(1):67-75. PubMed ID: 31538292
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  • 13. Molecular analysis of ABCA4 and CRB1 genes in a Spanish family segregating both Stargardt disease and autosomal recessive retinitis pigmentosa.
    Riveiro-Alvarez R, Vallespin E, Wilke R, Garcia-Sandoval B, Cantalapiedra D, Aguirre-Lamban J, Avila-Fernandez A, Gimenez A, Trujillo-Tiebas MJ, Ayuso C.
    Mol Vis; 2008 Feb 04; 14():262-7. PubMed ID: 18334942
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  • 14. Phenotypic Features of Oguchi Disease and Retinitis Pigmentosa in Patients with S-Antigen Mutations: A Long-Term Follow-up Study.
    Nishiguchi KM, Ikeda Y, Fujita K, Kunikata H, Akiho M, Hashimoto K, Hosono K, Kurata K, Koyanagi Y, Akiyama M, Suzuki T, Kawasaki R, Wada Y, Hotta Y, Sonoda KH, Murakami A, Nakazawa M, Nakazawa T, Abe T.
    Ophthalmology; 2019 Nov 04; 126(11):1557-1566. PubMed ID: 31257036
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  • 15. Splice-site mutations identified in PDE6A responsible for retinitis pigmentosa in consanguineous Pakistani families.
    Khan SY, Ali S, Naeem MA, Khan SN, Husnain T, Butt NH, Qazi ZA, Akram J, Riazuddin S, Ayyagari R, Hejtmancik JF, Riazuddin SA.
    Mol Vis; 2015 Nov 04; 21():871-82. PubMed ID: 26321862
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  • 16. Three families displaying the combination of Stargardt's disease with cone-rod dystrophy or retinitis pigmentosa.
    Klevering BJ, Maugeri A, Wagner A, Go SL, Vink C, Cremers FP, Hoyng CB.
    Ophthalmology; 2004 Mar 04; 111(3):546-53. PubMed ID: 15019334
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  • 17. Microarray-based mutation detection and phenotypic characterization in Korean patients with retinitis pigmentosa.
    Kim C, Kim KJ, Bok J, Lee EJ, Kim DJ, Oh JH, Park SP, Shin JY, Lee JY, Yu HG.
    Mol Vis; 2012 Mar 04; 18():2398-410. PubMed ID: 23049240
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  • 18. Coexistence of GNAT1 and ABCA4 variants associated with Nougaret-type congenital stationary night blindness and childhood-onset cone-rod dystrophy.
    Hayashi T, Hosono K, Kurata K, Katagiri S, Mizobuchi K, Ueno S, Kondo M, Nakano T, Hotta Y.
    Doc Ophthalmol; 2020 Apr 04; 140(2):147-157. PubMed ID: 31583501
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  • 19. Clinical characteristics and disease progression of retinitis pigmentosa associated with PDE6B mutations in Korean patients.
    Kim YN, Song JS, Oh SH, Kim YJ, Yoon YH, Seo EJ, Seol CA, Lee SM, Choi JM, Seo GH, Keum C, Lee BH, Lee JY.
    Sci Rep; 2020 Nov 11; 10(1):19540. PubMed ID: 33177553
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  • 20. Inherited retinal dystrophies in a Kuwaiti tribe.
    Pandova MG, Abduljalil T, Elshafey AE, Abdelmoaty SMA, Albastawisy HI, Bastaki LA, Alsaleh H, Kozak I, AlMerjan JI.
    Ophthalmic Genet; 2022 Aug 11; 43(4):438-445. PubMed ID: 35272565
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