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Journal Abstract Search

343 related items for PubMed ID: 33001157

  • 1. PDE6C: Novel Mutations, Atypical Phenotype, and Differences Among Children and Adults.
    Daich Varela M, Ullah E, Yousaf S, Brooks BP, Hufnagel RB, Huryn LA.
    Invest Ophthalmol Vis Sci; 2020 Oct 01; 61(12):1. PubMed ID: 33001157
    [Abstract] [Full Text] [Related]

  • 2. 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
    [Abstract] [Full Text] [Related]

  • 3. Phenotypical Characteristics of POC1B-Associated Retinopathy in Japanese Cohort: Cone Dystrophy With Normal Funduscopic Appearance.
    Kameya S, Fujinami K, Ueno S, Hayashi T, Kuniyoshi K, Ideta R, Kikuchi S, Kubota D, Yoshitake K, Katagiri S, Sakuramoto H, Kominami T, Terasaki H, Yang L, Fujinami-Yokokawa Y, Liu X, Arno G, Pontikos N, Miyake Y, Iwata T, Tsunoda K, Japan Eye Genetics Consortium.
    Invest Ophthalmol Vis Sci; 2019 Aug 01; 60(10):3432-3446. PubMed ID: 31390656
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  • 6. 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 01; 51(1):89-95. PubMed ID: 19797231
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  • 8. Maternal uniparental isodisomy of chromosome 6 reveals a TULP1 mutation as a novel cause of cone dysfunction.
    Roosing S, van den Born LI, Hoyng CB, Thiadens AA, de Baere E, Collin RW, Koenekoop RK, Leroy BP, van Moll-Ramirez N, Venselaar H, Riemslag FC, Cremers FP, Klaver CC, den Hollander AI.
    Ophthalmology; 2013 Jun 01; 120(6):1239-46. PubMed ID: 23499059
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  • 10. Deep Phenotyping of PDE6C-Associated Achromatopsia.
    Georgiou M, Robson AG, Singh N, Pontikos N, Kane T, Hirji N, Ripamonti C, Rotsos T, Dubra A, Kalitzeos A, Webster AR, Carroll J, Michaelides M.
    Invest Ophthalmol Vis Sci; 2019 Dec 02; 60(15):5112-5123. PubMed ID: 31826238
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  • 11. Progressive Cone Dystrophy and Cone-Rod Dystrophy (XL, AD, and AR).
    Tsang SH, Sharma T.
    Adv Exp Med Biol; 2018 Dec 02; 1085():53-60. PubMed ID: 30578485
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  • 12. 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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  • 13. Clinical characterizations and molecular genetic study of two co-segregating variants in PDZD7 and PDE6C genes leading simultaneously to non-syndromic hearing loss and achromatopsia.
    Nouri Z, Sarmadi A, Narrei S, Kianersi H, Kianersi F, Tabatabaiefar MA.
    BMC Med Genomics; 2024 Jul 01; 17(1):173. PubMed ID: 38956522
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  • 14. Cone dystrophy or macular dystrophy associated with novel autosomal dominant GUCA1A mutations.
    Manes G, Mamouni S, Hérald E, Richard AC, Sénéchal A, Aouad K, Bocquet B, Meunier I, Hamel CP.
    Mol Vis; 2017 Jul 01; 23():198-209. PubMed ID: 28442884
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  • 15. 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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  • 16. 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 01; 85(2):240-7. PubMed ID: 19615668
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  • 17. Clinical characteristics, imaging findings, and genetic results of a patient with CEP290-related cone-rod dystrophy.
    Vilaplana F, Ros A, Garcia B, Blanco I, Castellanos E, Edwards NJ, Valldeperas X, Ruiz-Bilbao S, Sabala A.
    Ophthalmic Genet; 2021 Aug 01; 42(4):474-479. PubMed ID: 33886416
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  • 18. PHENOTYPIC CHARACTERISTICS OF ROD-CONE DYSTROPHY ASSOCIATED WITH MYO7A MUTATIONS IN A LARGE FRENCH COHORT.
    Khateb S, Mohand-Saïd S, Nassisi M, Bonnet C, Roux AF, Andrieu C, Antonio A, Condroyer C, Zeitz C, Devisme C, Loundon N, Marlin S, Petit C, Bodaghi B, Sahel JA, Audo I.
    Retina; 2020 Aug 01; 40(8):1603-1615. PubMed ID: 31479088
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  • 19. A detailed study of the phenotype of an autosomal dominant cone-rod dystrophy (CORD7) associated with mutation in the gene for RIM1.
    Michaelides M, Holder GE, Hunt DM, Fitzke FW, Bird AC, Moore AT.
    Br J Ophthalmol; 2005 Feb 01; 89(2):198-206. PubMed ID: 15665353
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  • 20. Progressive cone dystrophy associated with mutation in CNGB3.
    Michaelides M, Aligianis IA, Ainsworth JR, Good P, Mollon JD, Maher ER, Moore AT, Hunt DM.
    Invest Ophthalmol Vis Sci; 2004 Jun 01; 45(6):1975-82. PubMed ID: 15161866
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