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108 results

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Page 1
Vosoritide Therapy in Children with Achondroplasia: Early Experience and Practical Considerations for Clinical Practice.
Semler O, Cormier-Daire V, Lausch E, Bober MB, Carroll R, Sousa SB, Deyle D, Faden M, Hartmann G, Huser AJ, Legare JM, Mohnike K, Rohrer TR, Rutsch F, Smith P, Travessa AM, Verardo A, White KK, Wilcox WR, Hoover-Fong J. Semler O, et al. Adv Ther. 2024 Jan;41(1):198-214. doi: 10.1007/s12325-023-02705-9. Epub 2023 Oct 26. Adv Ther. 2024. PMID: 37882884 Free PMC article.
A patient-centred and multi-stakeholder co-designed observational prospective study protocol: Example of the adolescent experience of treatment for X-linked hypophosphataemia (XLH).
Saraff V, Boot AM, Linglart A, Semler O, Harvengt P, Williams A, Bailey KMA, Glen F, Davies EH, Wood S, Greentree S, Rylands AJ. Saraff V, et al. Among authors: semler o. PLoS One. 2024 Jan 19;19(1):e0295080. doi: 10.1371/journal.pone.0295080. eCollection 2024. PLoS One. 2024. PMID: 38241270 Free PMC article.
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. Becker J, et al. Among authors: semler o. Am J Hum Genet. 2011 Mar 11;88(3):362-71. doi: 10.1016/j.ajhg.2011.01.015. Epub 2011 Feb 25. Am J Hum Genet. 2011. PMID: 21353196 Free PMC article.
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.
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.
Consensus statement on physical rehabilitation in children and adolescents with osteogenesis imperfecta.
Mueller B, Engelbert R, Baratta-Ziska F, Bartels B, Blanc N, Brizola E, Fraschini P, Hill C, Marr C, Mills L, Montpetit K, Pacey V, Molina MR, Schuuring M, Verhille C, de Vries O, Yeung EHK, Semler O. Mueller B, et al. Among authors: semler o. Orphanet J Rare Dis. 2018 Sep 10;13(1):158. doi: 10.1186/s13023-018-0905-4. Orphanet J Rare Dis. 2018. PMID: 30201006 Free PMC article.
Autosomal-Recessive Mutations in MESD Cause Osteogenesis Imperfecta.
Moosa S, Yamamoto GL, Garbes L, Keupp K, Beleza-Meireles A, Moreno CA, Valadares ER, de Sousa SB, Maia S, Saraiva J, Honjo RS, Kim CA, Cabral de Menezes H, Lausch E, Lorini PV, Lamounier A Jr, Carniero TCB, Giunta C, Rohrbach M, Janner M, Semler O, Beleggia F, Li Y, Yigit G, Reintjes N, Altmüller J, Nürnberg P, Cavalcanti DP, Zabel B, Warman ML, Bertola DR, Wollnik B, Netzer C. Moosa S, et al. Among authors: semler o. Am J Hum Genet. 2019 Oct 3;105(4):836-843. doi: 10.1016/j.ajhg.2019.08.008. Epub 2019 Sep 26. Am J Hum Genet. 2019. PMID: 31564437 Free PMC article.
108 results