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Page 1
Cardiovascular disease in adults with osteogenesis imperfecta: Clinical characteristics, care recommendations and research priorities identified using a modified Delphi technique.
Folkestad L, Prakash SK, Nagamani SCS, Andersen NH, Carter E, Hald JD, Johnson RJ, Langdahl B, Perfetto EM, Raggio C, Ralston S, Sandhaus RA, Semler O, Tosi L, Orwoll E. Folkestad L, et al. Among authors: semler o. J Bone Miner Res. 2024 Dec 12:zjae197. doi: 10.1093/jbmr/zjae197. Online ahead of print. J Bone Miner Res. 2024. PMID: 39665364
A standard set of outcome measures for the comprehensive assessment of osteogenesis imperfecta.
Nijhuis W, Franken A, Ayers K, Damas C, Folkestad L, Forlino A, Fraschini P, Hill C, Janus G, Kruse R, Lande Wekre L, Michiels L, Montpetit K, Panzeri L, Porquet-Bordes V, Rauch F, Sakkers R, Salles JP, Semler O, Sun J, To M, Tosi L, Yao Y, Yeung EHK, Zhytnik L, Zillikens MC, Verhoef M. Nijhuis W, et al. Among authors: semler o. Orphanet J Rare Dis. 2021 Mar 20;16(1):140. doi: 10.1186/s13023-021-01682-y. Orphanet J Rare Dis. 2021. PMID: 33743784 Free PMC article.
Risedronate in children with osteogenesis imperfecta: a randomised, double-blind, placebo-controlled trial.
Bishop N, Adami S, Ahmed SF, Antón J, Arundel P, Burren CP, Devogelaer JP, Hangartner T, Hosszú E, Lane JM, Lorenc R, Mäkitie O, Munns CF, Paredes A, Pavlov H, Plotkin H, Raggio CL, Reyes ML, Schoenau E, Semler O, Sillence DO, Steiner RD. Bishop N, et al. Among authors: semler o. Lancet. 2013 Oct 26;382(9902):1424-32. doi: 10.1016/S0140-6736(13)61091-0. Epub 2013 Aug 6. Lancet. 2013. PMID: 23927913 Clinical Trial.
A mutation in the 5'-UTR of IFITM5 creates an in-frame start codon and causes autosomal-dominant osteogenesis imperfecta type V with hyperplastic callus.
Semler O, Garbes L, Keupp K, Swan D, Zimmermann K, Becker J, Iden S, Wirth B, Eysel P, Koerber F, Schoenau E, Bohlander SK, Wollnik B, Netzer C. Semler O, et al. Am J Hum Genet. 2012 Aug 10;91(2):349-57. doi: 10.1016/j.ajhg.2012.06.011. Epub 2012 Aug 2. Am J Hum Genet. 2012. PMID: 22863195 Free PMC article.
The WNT1G177C mutation specifically affects skeletal integrity in a mouse model of osteogenesis imperfecta type XV.
Vollersen N, Zhao W, Rolvien T, Lange F, Schmidt FN, Sonntag S, Shmerling D, von Kroge S, Stockhausen KE, Sharaf A, Schweizer M, Karsak M, Busse B, Bockamp E, Semler O, Amling M, Oheim R, Schinke T, Yorgan TA. Vollersen N, et al. Among authors: semler o. Bone Res. 2021 Nov 10;9(1):48. doi: 10.1038/s41413-021-00170-0. Bone Res. 2021. PMID: 34759273 Free PMC article.
TAPT1-at the crossroads of extracellular matrix and signaling in Osteogenesis imperfecta.
Etich J, Semler O, Stevenson NL, Stephan A, Besio R, Garibaldi N, Reintjes N, Dafinger C, Liebau MC, Baumann U, Mörgelin M, Forlino A, Stephens DJ, Netzer C, Zaucke F, Rehberg M. Etich J, et al. Among authors: semler o. EMBO Mol Med. 2023 Jul 10;15(7):e17528. doi: 10.15252/emmm.202317528. Epub 2023 Jun 9. EMBO Mol Med. 2023. PMID: 37292039 Free PMC article.
Osteogenesis imperfecta.
Marini JC, Forlino A, Bächinger HP, Bishop NJ, Byers PH, Paepe A, Fassier F, Fratzl-Zelman N, Kozloff KM, Krakow D, Montpetit K, Semler O. Marini JC, et al. Among authors: semler o. Nat Rev Dis Primers. 2017 Aug 18;3:17052. doi: 10.1038/nrdp.2017.52. Nat Rev Dis Primers. 2017. PMID: 28820180 Review.
108 results