Hasil Pencarian - Michael B Bober

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  1. 1
    A moderate form of osteogenesis imperfecta caused by compound heterozygous LEPRE1 mutations

    A moderate form of osteogenesis imperfecta caused by compound heterozygous LEPRE1 mutations oleh Adolfredo Santana, Jeanne M. Franzone, Cristina M. McGreal, Richard W. Kruse, Michael B. Bober

    Diterbitkan 2018-12-01
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  2. 2
    Should We Stop Calling Thanatophoric Dysplasia a Lethal Condition? A Case Report of a Long-Term Survivor

    Should We Stop Calling Thanatophoric Dysplasia a Lethal Condition? A Case Report of a Long-Term Survivor oleh Ricki S. Carroll, Angela L. Duker, Andrea J. Schelhaas, Mary Ellen Little, Elissa G. Miller, Michael B. Bober

    Diterbitkan 2020-05-01
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  3. 3
    Case Report: Safety and Efficacy of Denosumab in Four Children With Noonan Syndrome With Multiple Giant Cell Lesions of the Jaw

    Case Report: Safety and Efficacy of Denosumab in Four Children With Noonan Syndrome With Multiple Giant Cell Lesions of the Jaw oleh Kristen Ferriero, Biraj Shah, Yun Yan, Surya Khatri, John Caccamese, Joseph A. Napoli, Michael B. Bober, Janet L. Crane

    Diterbitkan 2020-09-01
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  4. 4
    Trends in Serum Cytokine Expression in Pediatric Skeletal Dysplasia

    Trends in Serum Cytokine Expression in Pediatric Skeletal Dysplasia oleh David A. O'Connell, Ricki S. Carroll, Angela L. Duker, Andrea J. Schelhaas, Marjorie M. Postell, Paul T. Fawcett, Michael B. Bober

    Diterbitkan 2023-12-01
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  5. 5
    Microcephalic osteodysplastic primordial dwarfism type II is associated with global vascular disease

    Microcephalic osteodysplastic primordial dwarfism type II is associated with global vascular disease oleh Angela L. Duker, Dagmar Kinderman, Christy Jordan, Tim Niiler, Carissa M. Baker-Smith, Louise Thompson, David A. Parry, Ricki S. Carroll, Michael B. Bober

    Diterbitkan 2021-05-01
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  6. 6
    The IMPACT survey: a mixed methods study to understand the experience of children, adolescents and adults with osteogenesis imperfecta and their caregivers

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

    Diterbitkan 2024-03-01
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  7. 7
    Comprehensive pain management strategy for infants with moderate to severe osteogenesis imperfecta in the perinatal period

    Comprehensive pain management strategy for infants with moderate to severe osteogenesis imperfecta in the perinatal period oleh Ricki S. Carroll, Perri Donenfeld, Cristina McGreal, Jeanne M. Franzone, Richard W. Kruse, Catherine Preedy, Joanna Costa, Daniel R. Dirnberger, Michael B. Bober

    Diterbitkan 2021-12-01
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  8. 8
    Cervical kyphosis: A predominant feature of patients with osteogenesis imperfecta type 5

    Cervical kyphosis: A predominant feature of patients with osteogenesis imperfecta type 5 oleh Carlos Pargas, Jeanne M. Franzone, Kenneth J. Rogers, Frank Artinian, Adolfredo Santana, Suken A. Shah, Cristina M. McGreal, Richard W. Kruse, Michael B. Bober

    Diterbitkan 2020-12-01
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  9. 9
    The patient clinical journey and socioeconomic impact of osteogenesis imperfecta: a systematic scoping review

    The patient clinical journey and socioeconomic impact of osteogenesis imperfecta: a systematic scoping review oleh Maria Rapoport, Michael B. Bober, Cathleen Raggio, Lena Lande Wekre, Frank Rauch, Ingunn Westerheim, Tracy Hart, Taco van Welzenis, Arun Mistry, James Clancy, Lucy Booth, Samantha Prince, Oliver Semler

    Diterbitkan 2023-02-01
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  10. 10
    Novel XRCC4 Mutations in an Infant With Microcephalic Primordial Dwarfism, Dilated Cardiomyopathy, Subclinical Hypothyroidism, and Early Death: Expanding the Phenotype Of XRCC4 Mutations

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

    Diterbitkan 2020-01-01
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  11. 11
    Author Correction: Specific heterozygous variants in MGP lead to endoplasmic reticulum stress and cause spondyloepiphyseal dysplasia

    Author Correction: Specific heterozygous variants in MGP lead to endoplasmic reticulum stress and cause spondyloepiphyseal dysplasia oleh Ophélie Gourgas, Gabrielle Lemire, Alison J. Eaton, Sultanah Alshahrani, Angela L. Duker, Jingjing Li, Ricki S. Carroll, Stuart Mackenzie, Sarah M. Nikkel, Care4Rare Canada Consortium, Michael B. Bober, Kym M. Boycott, Monzur Murshed

    Diterbitkan 2024-04-01
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  12. 12
    Specific heterozygous variants in MGP lead to endoplasmic reticulum stress and cause spondyloepiphyseal dysplasia

    Specific heterozygous variants in MGP lead to endoplasmic reticulum stress and cause spondyloepiphyseal dysplasia oleh Ophélie Gourgas, Gabrielle Lemire, Alison J. Eaton, Sultanah Alshahrani, Angela L. Duker, Jingjing Li, Ricki S. Carroll, Stuart Mackenzie, Sarah M. Nikkel, Care4Rare Canada Consortium, Michael B. Bober, Kym M. Boycott, Monzur Murshed

    Diterbitkan 2023-11-01
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  13. 13
    Best practice guidelines for management of spinal disorders in skeletal dysplasia

    Best practice guidelines for management of spinal disorders in skeletal dysplasia oleh 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

    Diterbitkan 2020-06-01
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  14. 14
    Achondroplasia natural history study (CLARITY): 60-year experience in orthopedic surgery from four skeletal dysplasia centers

    Achondroplasia natural history study (CLARITY): 60-year experience in orthopedic surgery from four skeletal dysplasia centers oleh Nickolas J. Nahm, W. G. Stuart Mackenzie, William G. Mackenzie, Ethan Gough, S. Shahrukh Hashmi, Jacqueline T. Hecht, Janet M. Legare, Mary Ellen Little, Peggy Modaff, Richard M. Pauli, David F. Rodriguez-Buritica, Maria Elena Serna, Cory J. Smid, Julie Hoover-Fong, Michael B. Bober

    Diterbitkan 2023-06-01
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  15. 15
    Best practice guidelines in managing the craniofacial aspects of skeletal dysplasia

    Best practice guidelines in managing the craniofacial aspects of skeletal dysplasia oleh 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

    Diterbitkan 2021-01-01
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  16. 16
    Growth in achondroplasia including stature, weight, weight-for-height and head circumference from CLARITY: achondroplasia natural history study—a multi-center retrospective cohort study of achondroplasia in the US

    Growth in achondroplasia including stature, weight, weight-for-height and head circumference from CLARITY: achondroplasia natural history study—a multi-center retrospective cohort... oleh Julie E. Hoover-Fong, Kerry J. Schulze, Adekemi Y. Alade, Michael B. Bober, Ethan Gough, S. Shahrukh Hashmi, Jacqueline T. Hecht, Janet M. Legare, Mary Ellen Little, Peggy Modaff, Richard M. Pauli, David F. Rodriguez-Buritica, Maria E. Serna, Cory Smid, Chengxin Liu, John McGready

    Diterbitkan 2021-12-01
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  17. 17
    Overlapping and Distinct Features of Cardiac Pathology in Inherited Human and Murine Ether Lipid Deficiency

    Overlapping and Distinct Features of Cardiac Pathology in Inherited Human and Murine Ether Lipid Deficiency oleh Fabian Dorninger, Attila Kiss, Peter Rothauer, Alexander Stiglbauer-Tscholakoff, Stefan Kummer, Wedad Fallatah, Mireia Perera-Gonzalez, Ouafa Hamza, Theresa König, Michael B. Bober, Tiscar Cavallé-Garrido, Nancy E. Braverman, Sonja Forss-Petter, Christian Pifl, Jan Bauer, Reginald E. Bittner, Thomas H. Helbich, Bruno K. Podesser, Hannes Todt, Johannes Berger

    Diterbitkan 2023-01-01
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  18. 18
    Once-weekly TransCon CNP (navepegritide) in children with achondroplasia (ACcomplisH): a phase 2, multicentre, randomised, double-blind, placebo-controlled, dose-escalation trialResearch in context

    Once-weekly TransCon CNP (navepegritide) in children with achondroplasia (ACcomplisH): a phase 2, multicentre, randomised, double-blind, placebo-controlled, dose-escalation trialRe... oleh Ravi Savarirayan, Daniel G. Hoernschemeyer, Merete Ljungberg, Yuri A. Zarate, Carlos A. Bacino, Michael B. Bober, Janet M. Legare, Wolfgang Högler, Teresa Quattrin, M. Jennifer Abuzzahab, Paul L. Hofman, Klane K. White, Nina S. Ma, Dirk Schnabel, Sérgio B. Sousa, Meng Mao, Alden Smith, Mukta Chakraborty, Adebola Giwa, Bent Winding, Birgitte Volck, Aimee D. Shu, Ciara McDonnell

    Diterbitkan 2023-11-01
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  19. 19
    A Multicenter Observational Cohort Study to Evaluate the Effects of Bisphosphonate Exposure on Bone Mineral Density and Other Health Outcomes in Osteogenesis Imperfecta

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

    Diterbitkan 2019-05-01
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  20. 20
    Infigratinib in children with achondroplasia: the PROPEL and PROPEL 2 studies

    Infigratinib in children with achondroplasia: the PROPEL and PROPEL 2 studies oleh Ravi Savarirayan, Josep Maria De Bergua, Paul Arundel, Helen McDevitt, Valerie Cormier-Daire, Vrinda Saraff, Mars Skae, Borja Delgado, Antonio Leiva-Gea, Fernando Santos-Simarro, Jean Pierre Salles, Marc Nicolino, Massimiliano Rossi, Peter Kannu, Michael B. Bober, John Phillips, Howard Saal, Paul Harmatz, Christine Burren, Garrett Gotway, Terry Cho, Elena Muslimova, Richard Weng, Daniela Rogoff, Julie Hoover-Fong, Melita Irving

    Diterbitkan 2022-03-01
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