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Journal Abstract Search

265 related items for PubMed ID: 36769033

  • 1. Biallelic Variants in TULP1 Are Associated with Heterogeneous Phenotypes of Retinal Dystrophy.
    Bodenbender JP, Marino V, Bethge L, Stingl K, Haack TB, Biskup S, Kohl S, Kühlewein L, Dell'Orco D, Weisschuh N.
    Int J Mol Sci; 2023 Jan 31; 24(3):. PubMed ID: 36769033
    [Abstract] [Full Text] [Related]

  • 2. 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 31; 120(6):1239-46. PubMed ID: 23499059
    [Abstract] [Full Text] [Related]

  • 3. Screening of a large cohort of leber congenital amaurosis and retinitis pigmentosa patients identifies novel LCA5 mutations and new genotype-phenotype correlations.
    Mackay DS, Borman AD, Sui R, van den Born LI, Berson EL, Ocaka LA, Davidson AE, Heckenlively JR, Branham K, Ren H, Lopez I, Maria M, Azam M, Henkes A, Blokland E, Qamar R, Webster AR, Cremers FPM, Moore AT, Koenekoop RK, [LCA5 Study Group (see acknowledgements for Universities), Andreasson S, de Baere E, Bennett J, Chader GJ, Berger W, Golovleva I, Greenberg J, den Hollander AI, Klaver CCW, Klevering BJ, Lorenz B, Preising MN, Ramsear R, Roberts L, Roepman R, Rohrschneider K, Wissinger B.
    Hum Mutat; 2013 Nov 31; 34(11):1537-1546. PubMed ID: 23946133
    [Abstract] [Full Text] [Related]

  • 4. Natural history and biomarkers of retinal dystrophy caused by the biallelic TULP1 variant c.148delG.
    Majander A, Sankila EM, Falck A, Vasara LK, Seitsonen S, Kulmala M, Haavisto AK, Avela K, Turunen JA.
    Acta Ophthalmol; 2023 Mar 31; 101(2):215-221. PubMed ID: 36128853
    [Abstract] [Full Text] [Related]

  • 5. The identification of a RNA splice variant in TULP1 in two siblings with early-onset photoreceptor dystrophy.
    Verbakel SK, Fadaie Z, Klevering BJ, van Genderen MM, Feenstra I, Cremers FPM, Hoyng CB, Roosing S.
    Mol Genet Genomic Med; 2019 Jun 31; 7(6):e660. PubMed ID: 30950243
    [Abstract] [Full Text] [Related]

  • 6. Biallelic RP1-associated retinal dystrophies: Expanding the mutational and clinical spectrum.
    Huckfeldt RM, Grigorian F, Place E, Comander JI, Vavvas D, Young LH, Yang P, Shurygina M, Pierce EA, Pennesi ME.
    Mol Vis; 2020 Jun 31; 26():423-433. PubMed ID: 32565670
    [Abstract] [Full Text] [Related]

  • 7. Phenotyping and genotyping inherited retinal diseases: Molecular genetics, clinical and imaging features, and therapeutics of macular dystrophies, cone and cone-rod dystrophies, rod-cone dystrophies, Leber congenital amaurosis, and cone dysfunction syndromes.
    Georgiou M, Robson AG, Fujinami K, de Guimarães TAC, Fujinami-Yokokawa Y, Daich Varela M, Pontikos N, Kalitzeos A, Mahroo OA, Webster AR, Michaelides M.
    Prog Retin Eye Res; 2024 May 31; 100():101244. PubMed ID: 38278208
    [Abstract] [Full Text] [Related]

  • 8. CRB1-Related Retinal Dystrophies in a Cohort of 50 Patients: A Reappraisal in the Light of Specific Müller Cell and Photoreceptor CRB1 Isoforms.
    Mairot K, Smirnov V, Bocquet B, Labesse G, Arndt C, Defoort-Dhellemmes S, Zanlonghi X, Hamroun D, Denis D, Picot MC, David T, Grunewald O, Pégart M, Huguet H, Roux AF, Kalatzis V, Dhaenens CM, Meunier I.
    Int J Mol Sci; 2021 Nov 23; 22(23):. PubMed ID: 34884448
    [Abstract] [Full Text] [Related]

  • 9. Maternal uniparental isodisomy of chromosome 6 unmasks a novel variant in TULP1 in a patient with early onset retinal dystrophy.
    Souzeau E, Thompson JA, McLaren TL, De Roach JN, Barnett CP, Lamey TM, Craig JE.
    Mol Vis; 2018 Nov 23; 24():478-484. PubMed ID: 30090012
    [Abstract] [Full Text] [Related]

  • 10. Genotypic Profile and Clinical Characteristics of CRX-Associated Retinopathy in Koreans.
    Kim DG, Joo K, Han J, Choi M, Kim SW, Park KH, Park SJ, Lee CS, Byeon SH, Woo SJ.
    Genes (Basel); 2023 May 08; 14(5):. PubMed ID: 37239417
    [Abstract] [Full Text] [Related]

  • 11. Whole exome sequencing in Thai patients with retinitis pigmentosa reveals novel mutations in six genes.
    Jinda W, Taylor TD, Suzuki Y, Thongnoppakhun W, Limwongse C, Lertrit P, Suriyaphol P, Trinavarat A, Atchaneeyasakul LO.
    Invest Ophthalmol Vis Sci; 2014 Apr 07; 55(4):2259-68. PubMed ID: 24618324
    [Abstract] [Full Text] [Related]

  • 12. Clinical and Molecular Features of a Chinese Cohort With Syndromic and Nonsyndromic Retinal Dystrophies Related to the CEP290 Gene.
    Zhu T, Shen Y, Sun Z, Han X, Wei X, Li W, Lu C, Cheng T, Zou X, Li H, Cao Z, Gao H, Ma X, Luo M, Sui R.
    Am J Ophthalmol; 2023 Apr 07; 248():96-106. PubMed ID: 36493848
    [Abstract] [Full Text] [Related]

  • 13. A TULP1 founder mutation, p.Gln301*, underlies a recognisable congenital rod-cone dystrophy phenotype on the Arabian Peninsula.
    Khan AO, Bergmann C, Eisenberger T, Bolz HJ.
    Br J Ophthalmol; 2015 Apr 07; 99(4):488-92. PubMed ID: 25342276
    [Abstract] [Full Text] [Related]

  • 14. A range of clinical phenotypes associated with mutations in CRX, a photoreceptor transcription-factor gene.
    Sohocki MM, Sullivan LS, Mintz-Hittner HA, Birch D, Heckenlively JR, Freund CL, McInnes RR, Daiger SP.
    Am J Hum Genet; 1998 Nov 07; 63(5):1307-15. PubMed ID: 9792858
    [Abstract] [Full Text] [Related]

  • 15. Deciphering complexity: TULP1 variants linked to an atypical retinal dystrophy phenotype.
    Esteve-Garcia A, Cobos E, Sau C, Padró-Miquel A, Català-Mora J, Barberán-Martínez P, Millán JM, García-García G, Aguilera C.
    Front Genet; 2024 Nov 07; 15():1352063. PubMed ID: 38450199
    [Abstract] [Full Text] [Related]

  • 16. Extending the Spectrum of EYS-Associated Retinal Disease to Macular Dystrophy.
    Pierrache LHM, Messchaert M, Thiadens AAHJ, Haer-Wigman L, de Jong-Hesse Y, van Zelst-Stams WAG, Collin RWJ, Klaver CCW, van den Born LI.
    Invest Ophthalmol Vis Sci; 2019 May 01; 60(6):2049-2063. PubMed ID: 31074760
    [Abstract] [Full Text] [Related]

  • 17. 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 01; 43(4):438-445. PubMed ID: 35272565
    [Abstract] [Full Text] [Related]

  • 18. A novel homozygous missense mutation p.P388S in TULP1 causes protein instability and retinitis pigmentosa.
    Woodard DR, Xing C, Ganne P, Liang H, Mahindrakar A, Sankurathri C, Hulleman JD, Mootha VV.
    Mol Vis; 2021 Aug 01; 27():179-190. PubMed ID: 33907372
    [Abstract] [Full Text] [Related]

  • 19. Foveal Hypoplasia in CRB1-Related Retinopathies.
    Rodriguez-Martinez AC, Higgins BE, Tailor-Hamblin V, Malka S, Cheloni R, Collins AM, Bladen J, Henderson R, Moosajee M.
    Int J Mol Sci; 2023 Sep 11; 24(18):. PubMed ID: 37762234
    [Abstract] [Full Text] [Related]

  • 20. The correlation between CRB1 variants and the clinical severity of Brazilian patients with different inherited retinal dystrophy phenotypes.
    Motta FL, Salles MV, Costa KA, Filippelli-Silva R, Martin RP, Sallum JMF.
    Sci Rep; 2017 Aug 17; 7(1):8654. PubMed ID: 28819299
    [Abstract] [Full Text] [Related]

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