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217 related items for PubMed ID: 23853499

  • 1. Osteogenesis imperfecta Type VI with severe bony deformities caused by novel compound heterozygous mutations in SERPINF1.
    Cho SY, Ki CS, Sohn YB, Kim SJ, Maeng SH, Jin DK.
    J Korean Med Sci; 2013 Jul; 28(7):1107-10. PubMed ID: 23853499
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  • 2. Novel Mutations in SERPINF1 Result in Rare Osteogenesis Imperfecta Type VI.
    Wang JY, Liu Y, Song LJ, Lv F, Xu XJ, San A, Wang J, Yang HM, Yang ZY, Jiang Y, Wang O, Xia WB, Xing XP, Li M.
    Calcif Tissue Int; 2017 Jan; 100(1):55-66. PubMed ID: 27796462
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  • 3. [Genotypes and phenotypes of nine Uygur children with osteogenesis imperfecta in Xinjiang].
    Luo YF, Dilihuma J, Sun GH, Reyilanmu B, Liang L, Du XY, Mireguli M.
    Zhonghua Er Ke Za Zhi; 2020 Feb 02; 58(2):135-139. PubMed ID: 32102151
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  • 5. Novel mutations of the SERPINF1 and FKBP10 genes in Chinese families with autosomal recessive osteogenesis imperfecta.
    Zhang H, Xu Y, Yue H, Wang C, Gu J, He J, Fu W, Hu W, Zhang Z.
    Int J Mol Med; 2018 Jun 02; 41(6):3662-3670. PubMed ID: 29512769
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  • 6. Long-term follow-up in osteogenesis imperfecta type VI.
    Trejo P, Palomo T, Montpetit K, Fassier F, Sato A, Glorieux FH, Rauch F.
    Osteoporos Int; 2017 Oct 02; 28(10):2975-2983. PubMed ID: 28689307
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  • 7. Restoration of the serum level of SERPINF1 does not correct the bone phenotype in Serpinf1 null mice.
    Rajagopal A, Homan EP, Joeng KS, Suzuki M, Bertin T, Cela R, Munivez E, Dawson B, Jiang MM, Gannon F, Crawford S, Lee BH.
    Mol Genet Metab; 2016 Mar 02; 117(3):378-82. PubMed ID: 26693895
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  • 8. Mutations in SERPINF1 cause osteogenesis imperfecta type VI.
    Homan EP, Rauch F, Grafe I, Lietman C, Doll JA, Dawson B, Bertin T, Napierala D, Morello R, Gibbs R, White L, Miki R, Cohn DH, Crawford S, Travers R, Glorieux FH, Lee B.
    J Bone Miner Res; 2011 Dec 02; 26(12):2798-803. PubMed ID: 21826736
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  • 9. The effect of SERPINF1 in-frame mutations in osteogenesis imperfecta type VI.
    Al-Jallad H, Palomo T, Roughley P, Glorieux FH, McKee MD, Moffatt P, Rauch F.
    Bone; 2015 Jul 02; 76():115-20. PubMed ID: 25868797
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  • 13. Exome sequencing identifies truncating mutations in human SERPINF1 in autosomal-recessive osteogenesis imperfecta.
    Becker J, Semler O, Gilissen C, Li Y, Bolz HJ, Giunta C, Bergmann C, Rohrbach M, Koerber F, Zimmermann K, de Vries P, Wirth B, Schoenau E, Wollnik B, Veltman JA, Hoischen A, Netzer C.
    Am J Hum Genet; 2011 Mar 11; 88(3):362-71. PubMed ID: 21353196
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  • 15. A co-occurrence of osteogenesis imperfecta type VI and cystinosis.
    Tucker T, Nelson T, Sirrs S, Roughley P, Glorieux FH, Moffatt P, Schlade-Bartusiak K, Brown L, Rauch F.
    Am J Med Genet A; 2012 Jun 11; 158A(6):1422-6. PubMed ID: 22528245
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  • 16. Case Report: A Novel Homozygous Variant of the SERPINF1 Gene in Rare Osteogenesis Imperfecta Type VI.
    Zhalsanova IZ, Postrigan AE, Valiakhmetov NR, Kolesnikov NA, Zhigalina DI, Zarubin AA, Petrova VV, Minaycheva LI, Seitova GN, Skryabin NA, Stepanov VA.
    Int J Mol Sci; 2023 Apr 03; 24(7):. PubMed ID: 37047644
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  • 19. Co-occurrence of heterozygous mutations in COL1A1 and SERPINF1 in a high-risk pregnancy complicated by osteogenesis imperfecta.
    Ji Y, Ikram A, Ma Z, Peppelenbosch MP, Pan Q.
    J Genet; 2019 Jun 03; 98(2):. PubMed ID: 31204718
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  • 20. Mutations in patients with osteogenesis imperfecta from consanguineous Indian families.
    Stephen J, Girisha KM, Dalal A, Shukla A, Shah H, Srivastava P, Kornak U, Phadke SR.
    Eur J Med Genet; 2015 Jan 03; 58(1):21-7. PubMed ID: 25450603
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