Resultats de la cerca - Michael B. Bober

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  1. 1
    Microcephalic Osteodysplastic Primordial Dwarfism, Type II: a Clinical Review

    Microcephalic Osteodysplastic Primordial Dwarfism, Type II: a Clinical Review per Michael B. Bober, Andrew P. Jackson

    Publicat 2017
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  2. 2
    The expanding phenotype of <i>RNU4ATAC</i> pathogenic variants to Lowry Wood syndrome

    The expanding phenotype of <i>RNU4ATAC</i> pathogenic variants to Lowry Wood syndrome per Laura S. Farach, Mary Ellen Little, Angela L. Duker, Clare V. Logan, Andrew P. Jackson, Jaqueline T. Hecht, Michael B. Bober

    Publicat 2017
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  3. 3
    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 per Ingunn Westerheim, Tracy Hart, Taco van Welzenis, Lena Lande Wekre, Oliver Semler, Cathleen Raggio, Michael B. Bober, Maria Rapoport, Samantha J. Prince, Frank Rauch

    Publicat 2024
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  4. 4
    Obstructive airway in Morquio A syndrome, the past, the present and the future

    Obstructive airway in Morquio A syndrome, the past, the present and the future per Shunji Tomatsu, Lauren W. Averill, Kazuki Sawamoto, William G. Mackenzie, Michael B. Bober, Christian Pizarro, Christopher J. Goff, Li Xie, Tadao Orii, Mary C. Theroux

    Publicat 2015
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  5. 5
    Mucopolysaccharidosis IVA: Correlation between genotype, phenotype and keratan sulfate levels

    Mucopolysaccharidosis IVA: Correlation between genotype, phenotype and keratan sulfate levels per Vũ Chí Dũng, Shunji Tomatsu, Adriana M. Montaño, Gary S. Gottesman, Michael B. Bober, William G. Mackenzie, Miho Maeda, Grant A. Mitchell, Yasuyuki Suzuki, Tadao Orii

    Publicat 2013
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  6. 6
    Enzyme replacement therapy for treating mucopolysaccharidosis type IVA (Morquio A syndrome): effect and limitations

    Enzyme replacement therapy for treating mucopolysaccharidosis type IVA (Morquio A syndrome): effect and limitations per Shunji Tomatsu, Kazuki Sawamoto, Tsutomu Shimada, Michael B. Bober, Francyne Kubaski, Eriko Yasuda, Robert W. Mason, Shaukat Khan, Carlos Javier Alméciga-Díaz, Luis A. Barrera, William G. Mackenzie, Tadao Orii

    Publicat 2015
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  7. 7
    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 per 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 J. Prince, Oliver Semler

    Publicat 2023
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  8. 8
    Best practice guidelines regarding prenatal evaluation and delivery of patients with skeletal dysplasia

    Best practice guidelines regarding prenatal evaluation and delivery of patients with skeletal dysplasia per Ravi Savarirayan, Judith Pratt Rossiter, Julie Hoover‐Fong, Melita Irving, Viviana Bompadre, Michael J. Goldberg, Michael B. Bober, Tae‐Joon Cho, Shawn E. Kamps, William G. Mackenzie, Cathleen Raggio, Samantha S. Spencer, Klane K. White

    Publicat 2018
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  9. 9
    Fibrochondrogenesis Results from Mutations in the COL11A1 Type XI Collagen Gene

    Fibrochondrogenesis Results from Mutations in the COL11A1 Type XI Collagen Gene per Stuart W. Tompson, Carlos A. Bacino, Nicole P. Safina, Michael B. Bober, Virginia K. Proud, Tara Funari, Michael F. Wangler, Lisette Nevarez, Leena Ala‐Kokko, William R. Wilcox, David R. Eyre, Deborah Krakow, Daniel H. Cohn

    Publicat 2010
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  10. 10
    Genetic Defects in Human Pericentrin Are Associated With Severe Insulin Resistance and Diabetes

    Genetic Defects in Human Pericentrin Are Associated With Severe Insulin Resistance and Diabetes per Isabel Huang‐Doran, Louise S. Bicknell, Francis Finucane, Nuno Rocha, Keith Porter, Y.C. Loraine Tung, Ferenc Szekeres, Anna Krook, John J. Nolan, Mark O’Driscoll, Michael B. Bober, Stephen O’Rahilly, Andrew P. Jackson, Robert K. Semple

    Publicat 2011
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  11. 11
    Best practices in peri‐operative management of patients with skeletal dysplasias

    Best practices in peri‐operative management of patients with skeletal dysplasias per Klane K. White, Viviana Bompadre, Michael J. Goldberg, Michael B. Bober, Tae‐Joon Cho, Julie Hoover‐Fong, Melita Irving, William G. Mackenzie, Shawn E. Kamps, Cathleen Raggio, Gregory J. Redding, Samantha S. Spencer, Ravi Savarirayan, Mary C. Theroux

    Publicat 2017
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  12. 12
    A Unique Set of Centrosome Proteins Requires Pericentrin for Spindle-Pole Localization and Spindle Orientation

    A Unique Set of Centrosome Proteins Requires Pericentrin for Spindle-Pole Localization and Spindle Orientation per Chun‐Ting Chen, Heidi Hehnly, YU Qing, Debby Farkas, Guoqiang Zheng, Sambra D. Redick, Hui-Fang Hung, Rajeev Samtani, Agata Jurczyk, Schahram Akbarian, Carol A. Wise, Andrew P. Jackson, Michael B. Bober, Yin Guo, Cecilia Lo, Stephen Doxsey

    Publicat 2014
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  13. 13
    Achondroplasia Natural History Study (CLARITY): a multicenter retrospective cohort study of achondroplasia in the United States

    Achondroplasia Natural History Study (CLARITY): a multicenter retrospective cohort study of achondroplasia in the United States per Julie Hoover‐Fong, Adekemi Yewande Alade, S. Shahrukh Hashmi, Jacqueline T. Hecht, Janet M. Legare, Mary Ellen Little, Chengxin Liu, John McGready, Peggy Modaff, Richard M. Pauli, David Rodriguez‐Buritica, Kerry Schulze, Maria E. Serna, Cory J. Smid, Michael B. Bober

    Publicat 2021
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  14. 14
    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... per Julie Hoover‐Fong, Kerry Schulze, Adekemi Yewande Alade, Michael B. Bober, Ethan Gough, S. Shahrukh Hashmi, Jacqueline T. Hecht, Janet M. Legare, Mary Ellen Little, Peggy Modaff, Richard M. Pauli, David Rodriguez‐Buritica, Maria E. Serna, Cory J. Smid, Chengxin Liu, John McGready

    Publicat 2021
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  15. 15
    A cross‐sectional multicenter study of osteogenesis imperfecta in North America – results from the linked clinical research centers

    A cross‐sectional multicenter study of osteogenesis imperfecta in North America – results from the linked clinical research centers per Ruchita Patel, Sandesh C.S. Nagamani, David Cuthbertson, Philippe M. Campeau, J. Krischer, Jay R. Shapiro, Robert D. Steiner, Peter A. Smith, Michael B. Bober, Peter H. Byers, Melanie Pepin, Michaela Durigova, Francis H. Glorieux, Frank Rauch, B.H. Lee, Tracy Hart, V. Reid Sutton

    Publicat 2014
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  16. 16
    Impact of enzyme replacement therapy and&amp;nbsp;hematopoietic stem cell transplantation in&amp;nbsp;patients with Morquio A syndrome

    Impact of enzyme replacement therapy and&amp;nbsp;hematopoietic stem cell transplantation in&amp;nbsp;patients with Morquio A syndrome per Shunji Tomatsu, Roberto Giugliani, Francyne Kubaski, Sawamoto Kazuki, Carlos Javier Alméciga-Díaz, Luis A. Barrera, Adriana M. Montaño, Eriko Yasuda, Yasutsugu Chinen, Robert W. Mason, William G. Mackenzie, Michael B. Bober, Tadao Orii, Hiromasa Yabe, Tsutomu Shimada, Ángela J. Espejo, Alexander Rodríguez‐López, Oscar F. Sánchez

    Publicat 2015
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  17. 17
    Cesarean delivery is not associated with decreased at-birth fracture rates in osteogenesis imperfecta

    Cesarean delivery is not associated with decreased at-birth fracture rates in osteogenesis imperfecta per Sunil Bellur, Mahim Jain, David Cuthbertson, Deborah Krakow, Jay R. Shapiro, Robert D. Steiner, Peter A. Smith, Michael B. Bober, Tracy Hart, J. Krischer, Mary A. Mullins, Peter H. Byers, Melanie Pepin, Michaela Durigova, Francis H. Glorieux, Frank Rauch, V. Reid Sutton, B. Lee, Sandesh C.S. Nagamani

    Publicat 2015
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  18. 18
    Vosoritide Therapy in Children with Achondroplasia: Early Experience and Practical Considerations for Clinical Practice

    Vosoritide Therapy in Children with Achondroplasia: Early Experience and Practical Considerations for Clinical Practice per Oliver Semler, Valérie Cormier‐Daire, Ekkehart Lausch, Michael B. Bober, Ricki Carroll, Sérgio B. Sousa, David R. Deyle, Maha Faden, G Hartmann, Aaron J. Huser, Janet M. Legare, Klaus Mohnike, Tilman Rohrer, Frank Rutsch, Pamela S. Smith, André Travessa, Angela Verardo, Klane K. White, William R. Wilcox, Julie Hoover‐Fong

    Publicat 2023
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  19. 19
    A multicenter study to evaluate pulmonary function in osteogenesis imperfecta

    A multicenter study to evaluate pulmonary function in osteogenesis imperfecta per Allison Tam, Shan Chen, Evan Schauer, Ingo Grafe, Venkata Bandi, Jay R. Shapiro, Robert D. Steiner, Peter A. Smith, Michael B. Bober, Tracy Hart, David Cuthbertson, Jeffrey P. Krischer, Mary A. Mullins, Peter H. Byers, Robert A. Sandhaus, Michaela Durigova, Francis H. Glorieux, Frank Rauch, V. Reid Sutton, Brendan Lee, Eric T. Rush, Sandesh C.S. Nagamani

    Publicat 2018
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  20. 20
    Mutations in genes encoding condensin complex proteins cause microcephaly through decatenation failure at mitosis

    Mutations in genes encoding condensin complex proteins cause microcephaly through decatenation failure at mitosis per Carol-Anne Martin, Jennie Murray, Paula Carroll, Andrea Leitch, Karen J. Mackenzie, Mihail Halachev, Ahmed E. Fetit, Charlotte Keith, Louise S. Bicknell, Adeline Fluteau, Philippe Gautier, Emma A. Hall, Shelagh Joss, Gabriela Soares, João Silva, Michael B. Bober, Angela L. Duker, Carol A. Wise, Alan J. Quigley, Shubha R. Phadke, Andrew J. Wood, Paola Vagnarelli, Andrew P. Jackson

    Publicat 2016
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