Publications by authors named "Michael Bober"

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Long-term outcomes of elosulfase alfa enzyme replacement therapy in adults with MPS IVA: a sub-analysis of the Morquio A Registry Study (MARS).
Karolina M Stepien, Barbara K Burton, Michael B Bober, Philippe M Campeau, Carolyn Ellaway

Orphanet J Rare Dis· October 2025

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C-type natriuretic peptide and collagen X marker are aberrant in skeletal dysplasias.
Ricki S Carroll, Robert C Olney, Angela L Duker, Ryan F Coghlan, Andrea J Schelhaas, Michael B Bober

J Bone Miner Res· August 2025

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Sustained growth-promoting effects of vosoritide in children with achondroplasia from an ongoing phase 3 extension study.
Ravi Savarirayan, Melita Irving, William R Wilcox, Carlos A Bacino, Julie E Hoover-Fong, Michael B Bober

Med· May 2025

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TYRA-300, an FGFR3-selective inhibitor, promotes bone growth in two FGFR3-driven models of chondrodysplasia.
Jacqueline H Starrett, Clara Lemoine, Matthias Guillo, Chantal Fayad, Nabil Kaci, Michael B Bober

JCI Insight· May 2025

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Mutations in RNU4ATAC Are Associated With Chilblain-Like Lesions and Enhanced Type I Interferon Signalling.
Nic Robertson, Aakash Joshi, Francesca Ritchie, Ina Schim van der Loeff, David Royan, Michael B Bober

Eur J Immunol· May 2025

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Evolution of sleep disordered breathing in infants with achondroplasia.
Janet M Legare, David G Ingram, Richard M Pauli, Jacqueline T Hecht, Lorena Dujmusic, Michael B Bober

Sleep Breath· January 2025

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Dominant missense variants in SREBF2 are associated with complex dermatological, neurological, and skeletal abnormalities.
Matthew J Moulton, Kristhen Atala, Yiming Zheng, Debdeep Dutta, Dorothy K Grange, Michael B Bober

Genet Med· September 2024

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Midterm Outcomes of Multimodal Approach to Treating Severe Scoliosis in Patients With Osteogenesis Imperfecta.
Yusuke Hori, Tyler C McDonald, Patrick Thornley, Luiz Carlos Almeida da Silva, Burak Kaymaz, Michael B Bober

J Am Acad Orthop Surg· September 2024

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Development of a Weight-Band Dosing Approach for Vosoritide in Children with Achondroplasia Using a Population Pharmacokinetic Model.
Yulan Qi, Ming Liang Chan, Diane R Mould, Kevin Larimore, Elena Fisheleva, Michael B Bober

Clin Pharmacokinet· May 2024

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Author Correction: Specific heterozygous variants in MGP lead to endoplasmic reticulum stress and cause spondyloepiphyseal dysplasia.
Ophélie Gourgas, Gabrielle Lemire, Alison J Eaton, Sultanah Alshahrani, Angela L Duker, Michael B Bober

Nat Commun· April 2024

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The IMPACT survey: a mixed methods study to understand the experience of children, adolescents and adults with osteogenesis imperfecta and their caregivers.
Ingunn Westerheim, Tracy Hart, Taco van Welzenis, Lena Lande Wekre, Oliver Semler, Michael B Bober

Orphanet J Rare Dis· March 2024

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Vosoritide Therapy in Children with Achondroplasia: Early Experience and Practical Considerations for Clinical Practice.
Oliver Semler, Valérie Cormier-Daire, Ekkehart Lausch, Michael B Bober, Ricki Carroll

Adv Ther· January 2024

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Vosoritide therapy in children with achondroplasia aged 3-59 months: a multinational, randomised, double-blind, placebo-controlled, phase 2 trial.
Ravi Savarirayan, William R Wilcox, Paul Harmatz, John Phillips, Lynda E Polgreen, Michael B Bober

Lancet Child Adolesc Health· January 2024

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Achondroplasia Natural History Study (CLARITY): 60-year experience with hydrocephalus in achondroplasia from four skeletal dysplasia centers.
Jeffrey Campbell, Janet M Legare, Joseph Piatt, Ethan Gough, Richard M Pauli, Michael B Bober

J Neurosurg Pediatr· December 2023

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RAB1A haploinsufficiency phenocopies the 2p14-p15 microdeletion and is associated with impaired neuronal differentiation.
Jonathan J Rios, Yang Li, Nandina Paria, Ryan J Bohlender, Chad Huff, Michael B Bober

Am J Hum Genet· December 2023

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Trends in Serum Cytokine Expression in Pediatric Skeletal Dysplasia.
David A O'Connell, Ricki S Carroll, Angela L Duker, Andrea J Schelhaas, Marjorie M Postell, Michael B Bober

JBMR Plus· December 2023

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Once-weekly TransCon CNP (navepegritide) in children with achondroplasia (ACcomplisH): a phase 2, multicentre, randomised, double-blind, placebo-controlled, dose-escalation trial.
Ravi Savarirayan, Daniel G Hoernschemeyer, Merete Ljungberg, Yuri A Zarate, Carlos A Bacino, Michael B Bober

EClinicalMedicine· November 2023

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Tracheal Narrowing and Its Impact on Anesthesia Care in Patients With Morquio A (Mucopolysaccharidosis Type IVA): An Observational Study.
Mary C Theroux, Sabina DiCindio, Lauren W Averill, Christian Pizarro, Abraham Oommen, Michael B Bober

Anesth Analg· November 2023

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Specific heterozygous variants in MGP lead to endoplasmic reticulum stress and cause spondyloepiphyseal dysplasia.
Ophélie Gourgas, Gabrielle Lemire, Alison J Eaton, Sultanah Alshahrani, Angela L Duker, Michael B Bober

Nat Commun· November 2023

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Identification of potential non-invasive biomarkers in diastrophic dysplasia.
Chiara Paganini, Ricki S Carroll, Chiara Gramegna Tota, Andrea J Schelhaas, Alessandra Leone, Michael B Bober

Bone· October 2023

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Route of delivery does not impact postnatal surgical morbidity in pregnancies affected by fetal achondroplasia.
Bobby K Brar, Michael B Bober, Ethan Gough, S Shahrukh Hashmi, Jacqueline T Hecht

Genet Med· July 2023

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Achondroplasia natural history study (CLARITY): 60-year experience in orthopedic surgery from four skeletal dysplasia centers.
Nickolas J Nahm, W G Stuart Mackenzie, William G Mackenzie, Ethan Gough, S Shahrukh Hashmi, Michael B Bober

Orphanet J Rare Dis· June 2023

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The patient clinical journey and socioeconomic impact of osteogenesis imperfecta: a systematic scoping review.
Maria Rapoport, Michael B Bober, Cathleen Raggio, Lena Lande Wekre, Frank Rauch

Orphanet J Rare Dis· February 2023

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