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Journal Abstract Search

734 related items for PubMed ID: 29382611

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  • 3. Dominant osteogenesis imperfecta with low bone turnover caused by a heterozygous SP7 variant.
    Ludwig K, Ward LM, Khan N, Robinson ME, Miranda V, Bardai G, Moffatt P, Rauch F.
    Bone; 2022 Jul; 160():116400. PubMed ID: 35367406
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  • 4. Long-term follow-up of severe autosomal recessive SP7-related bone disorder.
    Gauthier LW, Fontanges E, Chapurlat R, Collet C, Rossi M.
    Bone; 2024 Feb; 179():116953. PubMed ID: 37918503
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  • 6. Biallelic variants in four genes underlying recessive osteogenesis imperfecta.
    Hayat A, Hussain S, Bilal M, Kausar M, Almuzzaini B, Abbas S, Tanveer A, Khan A, Siddiqi S, Foo JN, Ahmad F, Khan F, Khan B, Anees M, Mäkitie O, Alfadhel M, Ahmad W, Umair M.
    Eur J Med Genet; 2020 Aug; 63(8):103954. PubMed ID: 32413570
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  • 15. FAM46A mutations are responsible for autosomal recessive osteogenesis imperfecta.
    Doyard M, Bacrot S, Huber C, Di Rocco M, Goldenberg A, Aglan MS, Brunelle P, Temtamy S, Michot C, Otaify GA, Haudry C, Castanet M, Leroux J, Bonnefont JP, Munnich A, Baujat G, Lapunzina P, Monnot S, Ruiz-Perez VL, Cormier-Daire V.
    J Med Genet; 2018 Apr; 55(4):278-284. PubMed ID: 29358272
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  • 16. Mutations That Alter the Carboxy-Terminal-Propeptide Cleavage Site of the Chains of Type I Procollagen Are Associated With a Unique Osteogenesis Imperfecta Phenotype.
    Cundy T, Dray M, Delahunt J, Hald JD, Langdahl B, Li C, Szybowska M, Mohammed S, Duncan EL, McInerney-Leo AM, Wheeler PG, Roschger P, Klaushofer K, Rai J, Weis M, Eyre D, Schwarze U, Byers PH.
    J Bone Miner Res; 2018 Jul; 33(7):1260-1271. PubMed ID: 29669177
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  • 17. A novel RNA-splicing mutation in COL1A1 gene causing osteogenesis imperfecta type I in a Chinese family.
    Xia XY, Cui YX, Huang YF, Pan LJ, Yang B, Wang HY, Li XJ, Shi YC, Lu HY, Zhou YC.
    Clin Chim Acta; 2008 Dec; 398(1-2):148-51. PubMed ID: 18755172
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  • 18. Four patients with Sillence type I osteogenesis imperfecta and mild bone fragility, complicated by left ventricular cardiac valvular disease and cardiac tissue fragility caused by type I collagen mutations.
    Vandersteen AM, Lund AM, Ferguson DJ, Sawle P, Pollitt RC, Holder SE, Wakeling E, Moat N, Pope FM.
    Am J Med Genet A; 2014 Feb; 164A(2):386-91. PubMed ID: 24311407
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  • 19. Osterix/Sp7 regulates biomineralization of otoliths and bone in medaka (Oryzias latipes).
    Renn J, Winkler C.
    Matrix Biol; 2014 Feb; 34():193-204. PubMed ID: 24407212
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