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Journal Abstract Search

203 related items for PubMed ID: 21850159

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  • 3. 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. Novel mutations in MFRP and PRSS56 are associated with posterior microphthalmos.
    Bacci GM, Bargiacchi S, Fortunato P, Pisaneschi E, Peluso F, Marziali E, Magli A, Giglio SR, Caputo R.
    Ophthalmic Genet; 2020 Feb; 41(1):49-56. PubMed ID: 32118495
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  • 8. 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; 44(5):423-429. PubMed ID: 37501562
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  • 10. Autosomal-recessive posterior microphthalmos is caused by mutations in PRSS56, a gene encoding a trypsin-like serine protease.
    Gal A, Rau I, El Matri L, Kreienkamp HJ, Fehr S, Baklouti K, Chouchane I, Li Y, Rehbein M, Fuchs J, Fledelius HC, Vilhelmsen K, Schorderet DF, Munier FL, Ostergaard E, Thompson DA, Rosenberg T.
    Am J Hum Genet; 2011 Mar 11; 88(3):382-90. PubMed ID: 21397065
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  • 11. Common MFRP sequence variants are not associated with moderate to high hyperopia, isolated microphthalmia, and high myopia.
    Metlapally R, Li YJ, Tran-Viet KN, Bulusu A, White TR, Ellis J, Kao D, Young TL.
    Mol Vis; 2008 Mar 04; 14():387-93. PubMed ID: 18334955
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  • 13. A novel crumbs homolog 1 mutation in a family with retinitis pigmentosa, nanophthalmos, and optic disc drusen.
    Paun CC, Pijl BJ, Siemiatkowska AM, Collin RW, Cremers FP, Hoyng CB, den Hollander AI.
    Mol Vis; 2012 Mar 04; 18():2447-53. PubMed ID: 23077403
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  • 15. Identification of MFRP and the secreted serine proteases PRSS56 and ADAMTS19 as part of a molecular network involved in ocular growth regulation.
    Koli S, Labelle-Dumais C, Zhao Y, Paylakhi S, Nair KS.
    PLoS Genet; 2021 Mar 04; 17(3):e1009458. PubMed ID: 33755662
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  • 16. Developmental basis of nanophthalmos: MFRP Is required for both prenatal ocular growth and postnatal emmetropization.
    Sundin OH, Dharmaraj S, Bhutto IA, Hasegawa T, McLeod DS, Merges CA, Silval ED, Maumenee IH, Lutty GA.
    Ophthalmic Genet; 2008 Mar 04; 29(1):1-9. PubMed ID: 18363166
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  • 19. Identification of MFRP Mutations in Chinese Families with High Hyperopia.
    Xu Y, Guan L, Xiao X, Zhang J, Li S, Jiang H, Jia X, Yin Y, Guo X, Yang Z, Zhang Q.
    Optom Vis Sci; 2016 Jan 04; 93(1):19-26. PubMed ID: 26583794
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