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Journal Abstract Search

116 related items for PubMed ID: 37501562

  • 1. 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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  • 5. 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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  • 12. Comprehensive genetic analysis uncovers the mutational spectrum of MFRP and its genotype-phenotype correlation in a large cohort of Chinese microphthalmia patients.
    Tao J, Luo J, Li K, Yang R, Lin Y, Ge J.
    Gene; 2024 Oct 30; 926():148647. PubMed ID: 38848879
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  • 15. 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 30; 93(1):19-26. PubMed ID: 26583794
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  • 18. 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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  • 20. Heterozygous variants c.781G>A and c.1066dup of serine protease 56 cause familial nanophthalmos by impairing serine-type endopeptidase activity.
    Wu W, Xu J, Yin H, Fu C, Yao K, Chen X.
    Br J Ophthalmol; 2023 Nov 11; 107(11):1750-1756. PubMed ID: 35383051
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