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Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

136 related items for PubMed ID: 25605338

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  • 3. 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; 85(2):240-7. PubMed ID: 19615668
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  • 4. 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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  • 5. Novel Bi-allelic PDE6C Variant Leads to Congenital Achromatopsia.
    Bushehri A, Zare-Abdollahi D, Hashemian H, Safavizadeh L, Effati J, Khorram Khorshid HR.
    Iran Biomed J; 2020 Jul 01; 24(4):257-63. PubMed ID: 32306724
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  • 10. Mutations in the gene PDE6C encoding the catalytic subunit of the cone photoreceptor phosphodiesterase in patients with achromatopsia.
    Weisschuh N, Stingl K, Audo I, Biskup S, Bocquet B, Branham K, Burstedt MS, De Baere E, De Vries MJ, Golovleva I, Green A, Heckenlively J, Leroy BP, Meunier I, Traboulsi E, Wissinger B, Kohl S.
    Hum Mutat; 2018 Oct 01; 39(10):1366-1371. PubMed ID: 30080950
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  • 11. Next-generation sequencing revealed a novel mutation in the gene encoding the beta subunit of rod phosphodiesterase.
    Shen S, Sujirakul T, Tsang SH.
    Ophthalmic Genet; 2014 Sep 01; 35(3):142-50. PubMed ID: 24828262
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  • 12. Differences in ocular findings in two siblings: one with complete and other with incomplete achromatopsia.
    Ueno S, Nakanishi A, Sayo A, Kominami T, Ito Y, Hayashi T, Tsunoda K, Iwata T, Terasaki H.
    Doc Ophthalmol; 2017 Apr 01; 134(2):141-147. PubMed ID: 28197754
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  • 18. 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 01; 49(2):751-7. PubMed ID: 18235024
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