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Dissecting the phenotypic variability of osteogenesis imperfecta.
Garibaldi N, Besio R, Dalgleish R, Villani S, Barnes AM, Marini JC, Forlino A. Garibaldi N, et al. Among authors: barnes am. Dis Model Mech. 2022 May 1;15(5):dmm049398. doi: 10.1242/dmm.049398. Epub 2022 May 16. Dis Model Mech. 2022. PMID: 35575034 Free PMC article.
New perspectives on osteogenesis imperfecta.
Forlino A, Cabral WA, Barnes AM, Marini JC. Forlino A, et al. Among authors: barnes am. Nat Rev Endocrinol. 2011 Jun 14;7(9):540-57. doi: 10.1038/nrendo.2011.81. Nat Rev Endocrinol. 2011. PMID: 21670757 Free PMC article. Review.
MBTPS2 mutations cause defective regulated intramembrane proteolysis in X-linked osteogenesis imperfecta.
Lindert U, Cabral WA, Ausavarat S, Tongkobpetch S, Ludin K, Barnes AM, Yeetong P, Weis M, Krabichler B, Srichomthong C, Makareeva EN, Janecke AR, Leikin S, Röthlisberger B, Rohrbach M, Kennerknecht I, Eyre DR, Suphapeetiporn K, Giunta C, Marini JC, Shotelersuk V. Lindert U, et al. Among authors: barnes am. Nat Commun. 2016 Jul 6;7:11920. doi: 10.1038/ncomms11920. Nat Commun. 2016. PMID: 27380894 Free PMC 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: barnes am. 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.
121 results