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Journal Abstract Search

356 related items for PubMed ID: 27796462

  • 1. 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
    [Abstract] [Full Text] [Related]

  • 2. 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; 76():115-20. PubMed ID: 25868797
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  • 3. 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; 41(6):3662-3670. PubMed ID: 29512769
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  • 4. 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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  • 5. Extremely low level of serum pigment epithelium-derived factor is a special biomarker of Chinese osteogenesis imperfecta patients with SERPINF1 mutations.
    Wang JY, Li LJ, Zhang Q, Liu Y, Lv F, Xu XJ, Song YW, Wang O, Jiang Y, Xia WB, Xing XP, Li M.
    Clin Chim Acta; 2018 Mar; 478():216-221. PubMed ID: 29104038
    [Abstract] [Full Text] [Related]

  • 6. Normal bone density and fat mass in heterozygous SERPINF1 mutation carriers.
    Al-Jallad H, Palomo T, Moffatt P, Roughley P, Glorieux FH, Rauch F.
    J Clin Endocrinol Metab; 2014 Nov; 99(11):E2446-50. PubMed ID: 25127091
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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; 117(3):378-82. PubMed ID: 26693895
    [Abstract] [Full Text] [Related]

  • 8. 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; 158A(6):1422-6. PubMed ID: 22528245
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  • 9. 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
    [Abstract] [Full Text] [Related]

  • 10. Osteogenesis Imperfecta Type VI in Individuals from Northern Canada.
    Ward L, Bardai G, Moffatt P, Al-Jallad H, Trejo P, Glorieux FH, Rauch F.
    Calcif Tissue Int; 2016 Jun 11; 98(6):566-72. PubMed ID: 26815784
    [Abstract] [Full Text] [Related]

  • 11. 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 11; 26(12):2798-803. PubMed ID: 21826736
    [Abstract] [Full Text] [Related]

  • 12. Lack of circulating pigment epithelium-derived factor is a marker of osteogenesis imperfecta type VI.
    Rauch F, Husseini A, Roughley P, Glorieux FH, Moffatt P.
    J Clin Endocrinol Metab; 2012 Aug 11; 97(8):E1550-6. PubMed ID: 22669302
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  • 16. Antagonism Between PEDF and TGF-β Contributes to Type VI Osteogenesis Imperfecta Bone and Vascular Pathogenesis.
    Kang H, Aryal Ac S, Barnes AM, Martin A, David V, Crawford SE, Marini JC.
    J Bone Miner Res; 2022 May 11; 37(5):925-937. PubMed ID: 35258129
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  • 20. Novel compound heterozygous mutations in SERPINH1 cause rare autosomal recessive osteogenesis imperfecta type X.
    Song Y, Zhao D, Xu X, Lv F, Li L, Jiang Y, Wang O, Xia W, Xing X, Li M.
    Osteoporos Int; 2018 Jun 11; 29(6):1389-1396. PubMed ID: 29520608
    [Abstract] [Full Text] [Related]

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