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Osteogenesis imperfecta

Pleiotropic effects of a recessive Col1a2 mutation occurring in a mouse model of severe osteogenesis imperfecta

Michelangelo Corcelli, Rachel Sagar, Ellen Petzendorfer, Mohammad Mehedi Hasan, Fleur S. van Dijk, Anna L. David, Pascale V. Guillot

published 05 Feb 2025

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Association of trabecular bone score and bone mineral apparent density with the severity of bone fragility in children and adolescents with osteogenesis imperfecta: A cross-sectional study

Yasuhisa Ohata, Taichi Kitaoka, Takeshi Ishimi, Chieko Yamada, Yukako Nakano, Kenichi Yamamoto, Shinji Takeyari, Hirofumi Nakayama, Makoto Fujiwara, Takuo Kubota, Keiichi Ozono

published 29 Aug 2023

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Morphological and mechanical characterization of bone phenotypes in the Amish G610C murine model of osteogenesis imperfecta

Rachel Kohler, Carli A. Tastad, Amy Creecy, Joseph M. Wallace

published 27 Aug 2021

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Upper extremity prosthetic selection influences loading of transhumeral osseointegrated systems

Carolyn E. Taylor, Alex J. Drew, Yue Zhang, Yuqing Qiu, Kent N. Bachus, K. Bo Foreman, Heath B. Henninger

published 06 Aug 2020

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Variation in bone response to the placement of percutaneous osseointegrated endoprostheses: A 24-month follow-up in sheep

Sujee Jeyapalina, James Peter Beck, Alex Drew, Roy D. Bloebaum, Kent N. Bachus

published 25 Oct 2019

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Substitutions for arginine at position 780 in triple helical domain of the α1(I) chain alter folding of the type I procollagen molecule and cause osteogenesis imperfecta

Elena Makareeva, Guoli Sun, Lynn S. Mirigian, Edward L. Mertz, Juan C. Vera, Nydea A. Espinoza, Kathleen Yang, Diana Chen, Teri E. Klein, Peter H. Byers, Sergey Leikin

published 10 Jul 2018

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The osteogenic cell surface marker BRIL/IFITM5 is dispensable for bone development and homeostasis in mice

Alexa Patoine, Abdallah Husseini, Bahar Kasaai, Marie-Hélène Gaumond, Pierre Moffatt

published 07 Sep 2017

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Mutations in COL1A1 and COL1A2 and dental aberrations in children and adolescents with osteogenesis imperfecta – A retrospective cohort study

Kristofer Andersson, Göran Dahllöf, Katarina Lindahl, Andreas Kindmark, Giedre Grigelioniene, Eva Åström, Barbro Malmgren

published 12 May 2017

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Multiparametric Classification of Skin from Osteogenesis Imperfecta Patients and Controls by Quantitative Magnetic Resonance Microimaging

Beth G. Ashinsky, Kenneth W. Fishbein, Erin M. Carter, Ping-Chang Lin, Nancy Pleshko, Cathleen L. Raggio, Richard G. Spencer

published 14 Jul 2016

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Involving Families with Osteogenesis Imperfecta in Health Service Research: Joint Development of the OI/ECE Questionnaire

Maman Joyce Dogba, Noémi Dahan-Oliel, Laurie Snider, Francis H. Glorieux, Michaela Durigova, Telma Palomo, Michel Cordey, Marie-Hélène Bédard, Christophe Bedos, Frank Rauch

published 22 Jan 2016

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Development of a High-Throughput Resequencing Array for the Detection of Pathogenic Mutations in Osteogenesis Imperfecta

Yao Wang, Yazhou Cui, Xiaoyan Zhou, Jinxiang Han

published 05 Mar 2015

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Novel Mutations in FKBP10 and PLOD2 Cause Rare Bruck Syndrome in Chinese Patients

Peiran Zhou, Yi Liu, Fang Lv, Min Nie, Yan Jiang, Ou Wang, Weibo Xia, Xiaoping Xing, Mei Li

published 19 Sep 2014

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Phenotype and Genotype Analysis of Chinese Patients with Osteogenesis Imperfecta Type V

Zeng Zhang, Mei Li, Jin-Wei He, Wen-Zhen Fu, Chang-Qing Zhang, Zhen-Lin Zhang

published 20 Aug 2013

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