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Journal Abstract Search

118 related items for PubMed ID: 39287548

  • 1. GENETIC ETIOLOGY AND CLINICAL FEATURES OF ACHROMATOPSIA IN JAPAN.
    Inooka T, Hayashi T, Tsunoda K, Kuniyoshi K, Kondo H, Mizobuchi K, Suga A, Iwata T, Yoshitake K, Kondo M, Goto K, Ota J, Kominami T, Nishiguchi KM, Ueno S.
    Retina; 2024 Oct 01; 44(10):1836-1844. PubMed ID: 39287548
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  • 4. Genetics and Disease Expression in the CNGA3 Form of Achromatopsia: Steps on the Path to Gene Therapy.
    Zelinger L, Cideciyan AV, Kohl S, Schwartz SB, Rosenmann A, Eli D, Sumaroka A, Roman AJ, Luo X, Brown C, Rosin B, Blumenfeld A, Wissinger B, Jacobson SG, Banin E, Sharon D.
    Ophthalmology; 2015 May 01; 122(5):997-1007. PubMed ID: 25616768
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  • 6. A deep intronic substitution in CNGB3 is one of the major causes of achromatopsia among Jewish patients.
    Aweidah H, Salameh M, Yahalom C, Blumenfeld A, Macarov M, Weisschuh N, Kohl S, Banin E, Sharon D.
    Mol Vis; 2021 May 01; 27():588-600. PubMed ID: 34703197
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  • 7. Congenital Achromatopsia and Macular Atrophy Caused by a Novel Recessive PDE6C Mutation (p.E591K).
    Katagiri S, Hayashi T, Yoshitake K, Sergeev Y, Akahori M, Furuno M, Nishino J, Ikeo K, Tsunoda K, Tsuneoka H, Iwata T.
    Ophthalmic Genet; 2015 Jun 01; 36(2):137-44. PubMed ID: 25605338
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  • 8. Novel causative variants in patients with achromatopsia.
    Abdelkader E, Brandau O, Bergmann C, AlSalamah N, Nowilaty S, Schatz P.
    Ophthalmic Genet; 2018 Dec 01; 39(6):678-683. PubMed ID: 30289319
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  • 9. Clinical and Molecular Characterization of Achromatopsia Patients: A Longitudinal Study.
    Brunetti-Pierri R, Karali M, Melillo P, Di Iorio V, De Benedictis A, Iaccarino G, Testa F, Banfi S, Simonelli F.
    Int J Mol Sci; 2021 Feb 07; 22(4):. PubMed ID: 33562422
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  • 10. Characterization of Retinal Structure in ATF6-Associated Achromatopsia.
    Mastey RR, Georgiou M, Langlo CS, Kalitzeos A, Patterson EJ, Kane T, Singh N, Vincent A, Moore AT, Tsang SH, Lin JH, Young MP, Hartnett ME, Héon E, Kohl S, Michaelides M, Carroll J.
    Invest Ophthalmol Vis Sci; 2019 Jun 03; 60(7):2631-2640. PubMed ID: 31237654
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  • 11. In vivo imaging of a cone mosaic in a patient with achromatopsia associated with a GNAT2 variant.
    Ueno S, Nakanishi A, Kominami T, Ito Y, Hayashi T, Yoshitake K, Kawamura Y, Tsunoda K, Iwata T, Terasaki H.
    Jpn J Ophthalmol; 2017 Jan 03; 61(1):92-98. PubMed ID: 27718025
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  • 12. Retinal structure and function in achromatopsia: implications for gene therapy.
    Sundaram V, Wilde C, Aboshiha J, Cowing J, Han C, Langlo CS, Chana R, Davidson AE, Sergouniotis PI, Bainbridge JW, Ali RR, Dubra A, Rubin G, Webster AR, Moore AT, Nardini M, Carroll J, Michaelides M.
    Ophthalmology; 2014 Jan 03; 121(1):234-245. PubMed ID: 24148654
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  • 13. Oligocone trichromacy: clinical and molecular genetic investigations.
    Andersen MK, Christoffersen NL, Sander B, Edmund C, Larsen M, Grau T, Wissinger B, Kohl S, Rosenberg T.
    Invest Ophthalmol Vis Sci; 2010 Jan 03; 51(1):89-95. PubMed ID: 19797231
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  • 14. Two novel PDE6C gene mutations in Chinese family with achromatopsia.
    Yuan S, Qi R, Fang X, Wang X, Zhou L, Sheng X.
    Ophthalmic Genet; 2020 Dec 03; 41(6):591-598. PubMed ID: 32787476
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  • 15. Molecular and clinical characterization of Thai patients with achromatopsia: identification of three novel disease-associated variants in the CNGA3 and CNGB3 genes.
    Jinda W, Tuekprakhon A, Thongnoppakhun W, Limwongse C, Trinavarat A, Atchaneeyasakul LO.
    Int Ophthalmol; 2021 Jan 03; 41(1):121-134. PubMed ID: 32869108
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  • 16. Progressive loss of cones in achromatopsia: an imaging study using spectral-domain optical coherence tomography.
    Thiadens AA, Somervuo V, van den Born LI, Roosing S, van Schooneveld MJ, Kuijpers RW, van Moll-Ramirez N, Cremers FP, Hoyng CB, Klaver CC.
    Invest Ophthalmol Vis Sci; 2010 Nov 03; 51(11):5952-7. PubMed ID: 20574029
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  • 17. Homozygosity mapping reveals PDE6C mutations in patients with early-onset cone photoreceptor disorders.
    Thiadens AA, den Hollander AI, Roosing S, Nabuurs SB, Zekveld-Vroon RC, Collin RW, De Baere E, Koenekoop RK, van Schooneveld MJ, Strom TM, van Lith-Verhoeven JJ, Lotery AJ, van Moll-Ramirez N, Leroy BP, van den Born LI, Hoyng CB, Cremers FP, Klaver CC.
    Am J Hum Genet; 2009 Aug 03; 85(2):240-7. PubMed ID: 19615668
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  • 18. Genetic etiology and clinical consequences of complete and incomplete achromatopsia.
    Thiadens AA, Slingerland NW, Roosing S, van Schooneveld MJ, van Lith-Verhoeven JJ, van Moll-Ramirez N, van den Born LI, Hoyng CB, Cremers FP, Klaver CC.
    Ophthalmology; 2009 Oct 03; 116(10):1984-9.e1. PubMed ID: 19592100
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  • 19. Novel mutations in the gene for α-subunit of retinal cone cyclic nucleotide-gated channels in a Japanese patient with congenital achromatopsia.
    Kuniyoshi K, Muraki-Oda S, Ueyama H, Toyoda F, Sakuramoto H, Ogita H, Irifune M, Yamamoto S, Nakao A, Tsunoda K, Iwata T, Ohji M, Shimomura Y.
    Jpn J Ophthalmol; 2016 May 03; 60(3):187-97. PubMed ID: 27040408
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  • 20. Genetic analysis of four Pakistani families with achromatopsia and a novel S4 motif mutation of CNGA3.
    Saqib MA, Awan BM, Sarfraz M, Khan MN, Rashid S, Ansar M.
    Jpn J Ophthalmol; 2011 Nov 03; 55(6):676-80. PubMed ID: 21912902
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