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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. Nat Rev Dis Primers. 2017 Aug 18;3:17052. doi: 10.1038/nrdp.2017.52. Nat Rev Dis Primers. 2017. PMID: 28820180 Review.
COL1 C-propeptide cleavage site mutations cause high bone mass osteogenesis imperfecta.
Lindahl K, Barnes AM, Fratzl-Zelman N, Whyte MP, Hefferan TE, Makareeva E, Brusel M, Yaszemski MJ, Rubin CJ, Kindmark A, Roschger P, Klaushofer K, McAlister WH, Mumm S, Leikin S, Kessler E, Boskey AL, Ljunggren O, Marini JC. Lindahl K, et al. Hum Mutat. 2011 Jun;32(6):598-609. doi: 10.1002/humu.21475. Epub 2011 Apr 7. Hum Mutat. 2011. PMID: 21344539 Free PMC article.
Classification of osteogenesis imperfecta.
Fratzl-Zelman N, Misof BM, Roschger P, Klaushofer K. Fratzl-Zelman N, et al. Wien Med Wochenschr. 2015 Jul;165(13-14):264-70. doi: 10.1007/s10354-015-0368-3. Epub 2015 Jul 25. Wien Med Wochenschr. 2015. PMID: 26208476 Review.
Bone mass and mineralization in osteogenesis imperfecta.
Fratzl-Zelman N, Misof BM, Klaushofer K, Roschger P. Fratzl-Zelman N, et al. Wien Med Wochenschr. 2015 Jul;165(13-14):271-7. doi: 10.1007/s10354-015-0369-2. Epub 2015 Jul 25. Wien Med Wochenschr. 2015. PMID: 26208477 Review.
87 results