A moderate form of osteogenesis imperfecta caused by compound heterozygous LEPRE1 mutations

by Adolfredo Santana, Jeanne M. Franzone, Cristina M. McGreal, Richard W. Kruse, Michael B. Bober
Published 2018-12-01

Case Report: Safety and Efficacy of Denosumab in Four Children With Noonan Syndrome With Multiple Giant Cell Lesions of the Jaw

by Kristen Ferriero, Biraj Shah, Yun Yan, Surya Khatri, John Caccamese, Joseph A. Napoli, Michael B. Bober, Janet L. Crane
Published 2020-09-01

Microcephalic osteodysplastic primordial dwarfism type II is associated with global vascular disease

by Angela L. Duker, Dagmar Kinderman, Christy Jordan, Tim Niiler, Carissa M. Baker-Smith, Louise Thompson, David A. Parry, Ricki S. Carroll, Michael B. Bober
Published 2021-05-01

Cervical kyphosis: A predominant feature of patients with osteogenesis imperfecta type 5

by Carlos Pargas, Jeanne M. Franzone, Kenneth J. Rogers, Frank Artinian, Adolfredo Santana, Suken A. Shah, Cristina M. McGreal, Richard W. Kruse, Michael B. Bober
Published 2020-12-01

Novel XRCC4 Mutations in an Infant With Microcephalic Primordial Dwarfism, Dilated Cardiomyopathy, Subclinical Hypothyroidism, and Early Death: Expanding the Phenotype Of XRCC4 Mut...

by Meghan E. Fredette, MD, Kristin C. Lombardi, MD, Angela L. Duker, MS, LCGC, Catherine O. Buck, MD, Chanika Phornphutkul, MD, Michael B. Bober, MD, PhD, Jose Bernardo Quintos, MD
Published 2020-01-01

Best practice guidelines for management of spinal disorders in skeletal dysplasia

by Klane K. White, Michael B. Bober, Tae-Joon Cho, Michael J. Goldberg, Julie Hoover-Fong, Melita Irving, Shawn E. Kamps, William G. Mackenzie, Cathleen Raggio, Samantha A. Spencer, Viviana Bompadre, Ravi Savarirayan, on behalf of the Skeletal Dysplasia Management Consortium
Published 2020-06-01

Best practice guidelines in managing the craniofacial aspects of skeletal dysplasia

by Ravi Savarirayan, David E. Tunkel, Laura M. Sterni, Michael B. Bober, Tae-Joon Cho, Michael J. Goldberg, Julie Hoover-Fong, Melita Irving, Shawn E. Kamps, William G. Mackenzie, Cathleen Raggio, Samantha A. Spencer, Viviana Bompadre, Klane K. White, on behalf of the Skeletal Dysplasia Management Consortium
Published 2021-01-01

A Multicenter Observational Cohort Study to Evaluate the Effects of Bisphosphonate Exposure on Bone Mineral Density and Other Health Outcomes in Osteogenesis Imperfecta

by Jaskaran S Bains, Erin M Carter, Kate P Citron, Adele L Boskey, Jay R Shapiro, Robert D Steiner, Peter A Smith, Michael B Bober, Tracy Hart, David Cuthbertson, Jeff Krischer, Peter H Byers, Melanie Pepin, Michaela Durigova, Francis H Glorieux, Frank Rauch, Joseph M Sliepka, V Reid Sutton, Brendan Lee, Members of the BBD Consortium, Sandesh CS Nagamani, Cathleen L Raggio
Published 2019-05-01