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Journal Abstract Search

193 related items for PubMed ID: 32052405

  • 1. The genetic and clinical landscape of nanophthalmos and posterior microphthalmos in an Australian cohort.
    Siggs OM, Awadalla MS, Souzeau E, Staffieri SE, Kearns LS, Laurie K, Kuot A, Qassim A, Edwards TL, Coote MA, Mancel E, Walland MJ, Dondey J, Galanopoulous A, Casson RJ, Mills RA, MacArthur DG, Ruddle JB, Burdon KP, Craig JE.
    Clin Genet; 2020 May; 97(5):764-769. PubMed ID: 32052405
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  • 4. Novel TMEM98 mutations in pedigrees with autosomal dominant nanophthalmos.
    Khorram D, Choi M, Roos BR, Stone EM, Kopel T, Allen R, Alward WL, Scheetz TE, Fingert JH.
    Mol Vis; 2015 May; 21():1017-23. PubMed ID: 26392740
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  • 5. Variants in myelin regulatory factor (MYRF) cause autosomal dominant and syndromic nanophthalmos in humans and retinal degeneration in mice.
    Garnai SJ, Brinkmeier ML, Emery B, Aleman TS, Pyle LC, Veleva-Rotse B, Sisk RA, Rozsa FW, Ozel AB, Li JZ, Moroi SE, Archer SM, Lin CM, Sheskey S, Wiinikka-Buesser L, Eadie J, Urquhart JE, Black GCM, Othman MI, Boehnke M, Sullivan SA, Skuta GL, Pawar HS, Katz AE, Huryn LA, Hufnagel RB, Genomic Ascertainment Cohort, Camper SA, Richards JE, Prasov L.
    PLoS Genet; 2019 May; 15(5):e1008130. PubMed ID: 31048900
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  • 6. Mutations in a novel serine protease PRSS56 in families with nanophthalmos.
    Orr A, Dubé MP, Zenteno JC, Jiang H, Asselin G, Evans SC, Caqueret A, Lakosha H, Letourneau L, Marcadier J, Matsuoka M, Macgillivray C, Nightingale M, Papillon-Cavanagh S, Perry S, Provost S, Ludman M, Guernsey DL, Samuels ME.
    Mol Vis; 2011 May; 17():1850-61. PubMed ID: 21850159
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  • 9. Detection of Clinically Relevant Genetic Variants in Chinese Patients With Nanophthalmos by Trio-Based Whole-Genome Sequencing Study.
    Guo C, Zhao Z, Chen D, He S, Sun N, Li Z, Liu J, Zhang D, Zhang J, Li J, Zhang M, Ge J, Liu X, Zhang X, Fan Z.
    Invest Ophthalmol Vis Sci; 2019 Jul 01; 60(8):2904-2913. PubMed ID: 31266062
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  • 10. Pathogenic variants of MFRP and PRSS56 genes are major causes of nanophthalmos in Japanese patients.
    Ota J, Inooka T, Okado S, Maeda N, Koyanagi Y, Kominami T, Nishiguchi KM, Ueno S.
    Ophthalmic Genet; 2023 Oct 01; 44(5):423-429. PubMed ID: 37501562
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  • 16. Nanophthalmos-Associated MYRF Gene Mutation Causes Ciliary Zonule Defects in Mice.
    Yu X, Sun N, Yang X, Zhao Z, Su X, Zhang J, He Y, Lin Y, Ge J, Fan Z.
    Invest Ophthalmol Vis Sci; 2021 Mar 01; 62(3):1. PubMed ID: 33646289
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  • 19. Does the association between TMEM98 and nanophthalmos require further confirmation?-Reply.
    Awadalla MS, Burdon KP, Craig JE.
    JAMA Ophthalmol; 2015 Mar 01; 133(3):359-60. PubMed ID: 25429596
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