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150 related items for PubMed ID: 33353011

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  • 4. MERTK retinopathy: biomarkers assessing vision loss.
    Sakti DH, Cornish EE, Mustafic N, Zaheer A, Retsas S, Rajagopalan S, Chung CW, Ewans L, McCluskey P, Nash BM, Jamieson RV, Grigg JR.
    Ophthalmic Genet; 2021 Dec; 42(6):706-716. PubMed ID: 34289798
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  • 5. Targeted next generation sequencing identified novel loss-of-function mutations in MERTK gene in Chinese patients with retinitis pigmentosa.
    Liu S, Bi JG, Hu Y, Tang D, Li B, Zhu P, Peng W, Du D, He H, Zeng J, Dai Y.
    Mol Genet Genomic Med; 2019 Apr; 7(4):e00577. PubMed ID: 30790467
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  • 6. Homozygous mutation in MERTK causes severe autosomal recessive retinitis pigmentosa.
    Ksantini M, Lafont E, Bocquet B, Meunier I, Hamel CP.
    Eur J Ophthalmol; 2012 Apr; 22(4):647-53. PubMed ID: 22180149
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  • 7. Targeted Next-Generation Sequencing Reveals a Novel Frameshift Mutation in the MERTK Gene in a Chinese Family with Retinitis Pigmentosa.
    Yang M, Li S, Liu W, Yang Y, Zhang L, Zhang S, Jiang Z, Yang Z, Zhu X.
    Genet Test Mol Biomarkers; 2018 Mar; 22(3):165-169. PubMed ID: 29437494
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  • 8. Novel mutations in MERTK associated with childhood onset rod-cone dystrophy.
    Mackay DS, Henderson RH, Sergouniotis PI, Li Z, Moradi P, Holder GE, Waseem N, Bhattacharya SS, Aldahmesh MA, Alkuraya FS, Meyer B, Webster AR, Moore AT.
    Mol Vis; 2010 Mar 09; 16():369-77. PubMed ID: 20300561
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  • 9. Novel 25 kb Deletion of MERTK Causes Retinitis Pigmentosa With Severe Progression.
    Evans DR, Green JS, Johnson GJ, Schwartzentruber J, Majewski J, Beaulieu CL, Qin W, Marshall CR, Paton TA, Roslin NM, Paterson AD, Fahiminiya S, French J, Boycott KM, Woods MO, FORGE Canada Consortium.
    Invest Ophthalmol Vis Sci; 2017 Mar 01; 58(3):1736-1742. PubMed ID: 28324114
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  • 10. A novel MERTK mutation causing retinitis pigmentosa.
    Al-Khersan H, Shah KP, Jung SC, Rodriguez A, Madduri RK, Grassi MA.
    Graefes Arch Clin Exp Ophthalmol; 2017 Aug 01; 255(8):1613-1619. PubMed ID: 28462455
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  • 11. A novel MERTK deletion is a common founder mutation in the Faroe Islands and is responsible for a high proportion of retinitis pigmentosa cases.
    Ostergaard E, Duno M, Batbayli M, Vilhelmsen K, Rosenberg T.
    Mol Vis; 2011 Aug 01; 17():1485-92. PubMed ID: 21677792
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  • 12. A novel start codon mutation of the MERTK gene in a patient with retinitis pigmentosa.
    Jinda W, Poungvarin N, Taylor TD, Suzuki Y, Thongnoppakhun W, Limwongse C, Lertrit P, Suriyaphol P, Atchaneeyasakul LO.
    Mol Vis; 2016 Aug 01; 22():342-51. PubMed ID: 27122965
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  • 13. 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 01; 126(11):1557-1566. PubMed ID: 31257036
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  • 14. IMPG2-associated retinitis pigmentosa displays relatively early macular involvement.
    van Huet RA, Collin RW, Siemiatkowska AM, Klaver CC, Hoyng CB, Simonelli F, Khan MI, Qamar R, Banin E, Cremers FP, Theelen T, den Hollander AI, van den Born LI, Klevering BJ.
    Invest Ophthalmol Vis Sci; 2014 May 29; 55(6):3939-53. PubMed ID: 24876279
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  • 15. Microglia Inhibition Delays Retinal Degeneration Due to MerTK Phagocytosis Receptor Deficiency.
    Lew DS, Mazzoni F, Finnemann SC.
    Front Immunol; 2020 May 29; 11():1463. PubMed ID: 32765507
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  • 16. Phenotype of retinitis pigmentosa associated with the Ser50Thr mutation in the NRL gene.
    Bessant DA, Holder GE, Fitzke FW, Payne AM, Bhattacharya SS, Bird AC.
    Arch Ophthalmol; 2003 Jun 29; 121(6):793-802. PubMed ID: 12796249
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  • 17. Copy number variant detection using next-generation sequencing in EYS-associated retinitis pigmentosa.
    Hiraoka M, Urakawa Y, Kawai K, Yoshida A, Hosakawa J, Takazawa M, Inaba A, Yokota S, Hirami Y, Takahashi M, Ohara O, Kurimoto Y, Maeda A.
    PLoS One; 2024 Jun 29; 19(6):e0305812. PubMed ID: 38913662
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  • 18. Unravelling the genetic basis of retinal dystrophies in Pakistani consanguineous families.
    Marwan M, Dawood M, Ullah M, Shah IU, Khan N, Hassan MT, Karam M, Rawlins LE, Baple EL, Crosby AH, Saleha S.
    BMC Ophthalmol; 2023 May 10; 23(1):205. PubMed ID: 37165311
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  • 19. Autosomal dominant retinitis pigmentosa with intrafamilial variability and incomplete penetrance in two families carrying mutations in PRPF8.
    Maubaret CG, Vaclavik V, Mukhopadhyay R, Waseem NH, Churchill A, Holder GE, Moore AT, Bhattacharya SS, Webster AR.
    Invest Ophthalmol Vis Sci; 2011 Dec 02; 52(13):9304-9. PubMed ID: 22039234
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  • 20. An unusual retinal phenotype associated with a novel mutation in RHO.
    Audo I, Friedrich A, Mohand-Saïd S, Lancelot ME, Antonio A, Moskova-Doumanova V, Poch O, Bhattacharya S, Sahel JA, Zeitz C.
    Arch Ophthalmol; 2010 Aug 02; 128(8):1036-45. PubMed ID: 20697005
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