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Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans.
Marini JC, Forlino A, Cabral WA, Barnes AM, San Antonio JD, Milgrom S, Hyland JC, Körkkö J, Prockop DJ, De Paepe A, Coucke P, Symoens S, Glorieux FH, Roughley PJ, Lund AM, Kuurila-Svahn K, Hartikka H, Cohn DH, Krakow D, Mottes M, Schwarze U, Chen D, Yang K, Kuslich C, Troendle J, Dalgleish R, Byers PH. Marini JC, et al. Among authors: glorieux fh. Hum Mutat. 2007 Mar;28(3):209-21. doi: 10.1002/humu.20429. Hum Mutat. 2007. PMID: 17078022 Free PMC article. Review.
Positive linear growth and bone responses to growth hormone treatment in children with types III and IV osteogenesis imperfecta: high predictive value of the carboxyterminal propeptide of type I procollagen.
Marini JC, Hopkins E, Glorieux FH, Chrousos GP, Reynolds JC, Gundberg CM, Reing CM. Marini JC, et al. Among authors: glorieux fh. J Bone Miner Res. 2003 Feb;18(2):237-43. doi: 10.1359/jbmr.2003.18.2.237. J Bone Miner Res. 2003. PMID: 12568401 Free article.
Non-Lethal Type VIII Osteogenesis Imperfecta Has Elevated Bone Matrix Mineralization.
Fratzl-Zelman N, Barnes AM, Weis M, Carter E, Hefferan TE, Perino G, Chang W, Smith PA, Roschger P, Klaushofer K, Glorieux FH, Eyre DR, Raggio C, Rauch F, Marini JC. Fratzl-Zelman N, et al. Among authors: glorieux fh. J Clin Endocrinol Metab. 2016 Sep;101(9):3516-25. doi: 10.1210/jc.2016-1334. Epub 2016 Jul 6. J Clin Endocrinol Metab. 2016. PMID: 27383115 Free PMC article.
Osteogenesis imperfecta--clinical and molecular diversity.
Roughley PJ, Rauch F, Glorieux FH. Roughley PJ, et al. Among authors: glorieux fh. Eur Cell Mater. 2003 Jun 30;5:41-7; discussion 47. doi: 10.22203/ecm.v005a04. Eur Cell Mater. 2003. PMID: 14562271 Free article. Review.
CRTAP is required for prolyl 3- hydroxylation and mutations cause recessive osteogenesis imperfecta.
Morello R, Bertin TK, Chen Y, Hicks J, Tonachini L, Monticone M, Castagnola P, Rauch F, Glorieux FH, Vranka J, Bächinger HP, Pace JM, Schwarze U, Byers PH, Weis M, Fernandes RJ, Eyre DR, Yao Z, Boyce BF, Lee B. Morello R, et al. Among authors: glorieux fh. Cell. 2006 Oct 20;127(2):291-304. doi: 10.1016/j.cell.2006.08.039. Cell. 2006. PMID: 17055431 Free article.
334 results