Zobrazeno 1 - 10
of 43
pro vyhledávání: '"A L, Duker"'
Autor:
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
Publikováno v:
Nature Communications, Vol 14, Iss 1, Pp 1-20 (2023)
Abstract Matrix Gla protein (MGP) is a vitamin K-dependent post-translationally modified protein, highly expressed in vascular and cartilaginous tissues. It is a potent inhibitor of extracellular matrix mineralization. Biallelic loss-of-function vari
Externí odkaz:
https://doaj.org/article/da25b033c7fc4486b1e0a997e6fbb6d0
Autor:
David A. O'Connell, Ricki S. Carroll, Angela L. Duker, Andrea J. Schelhaas, Marjorie M. Postell, Paul T. Fawcett, Michael B. Bober
Publikováno v:
JBMR Plus, Vol 7, Iss 12, Pp n/a-n/a (2023)
Abstract The skeletal dysplasias are a heterogeneous group of genetic conditions caused by abnormalities of growth, development, and maintenance of bone and cartilage. Little is known about the roles that cytokines play in the inflammatory and non‐
Externí odkaz:
https://doaj.org/article/04a2a32850bd40e3bb3e1d75a8cde6fe
Autor:
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
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-1 (2024)
Externí odkaz:
https://doaj.org/article/baf17e51d8864a008f9a109bd76b1197
Microcephalic osteodysplastic primordial dwarfism type II is associated with global vascular disease
Autor:
Angela L. Duker, Dagmar Kinderman, Christy Jordan, Tim Niiler, Carissa M. Baker-Smith, Louise Thompson, David A. Parry, Ricki S. Carroll, Michael B. Bober
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-15 (2021)
Abstract Background Microcephalic osteodysplastic primordial dwarfism type II (MOPDII) is the most common form of primordial dwarfism, caused by bialleic mutations in the pericentrin gene (PCNT). Aside from its classic features, there are multiple as
Externí odkaz:
https://doaj.org/article/192b518261284b67aa8698531fe44ec0
Autor:
Ricki S. Carroll, Angela L. Duker, Andrea J. Schelhaas, Mary Ellen Little, Elissa G. Miller, Michael B. Bober
Publikováno v:
Palliative Medicine Reports, Vol 1, Iss 1, Pp 32-39 (2020)
Thanatophoric dysplasia (TD) is a rare skeletal dysplasia commonly thought to be lethal. In this case report, we discuss a nine-year-old male with TD and review his parents' decision making shortly after their son was born, the technology needed to s
Externí odkaz:
https://doaj.org/article/96adb5c51d0e429fb6410cc46ef36f92
Autor:
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
Publikováno v:
AACE Clinical Case Reports, Vol 6, Iss 1, Pp e1-e4 (2020)
ABSTRACT: Objective: Microcephalic primordial dwarfism (MPD) is a group of clinically and genetically heterogeneous disorders which result in severe prenatal and postnatal growth failure. X-ray repair cross-complementing protein 4 (XRCC4) is a causat
Externí odkaz:
https://doaj.org/article/fdfa917c44de448da1bb99dbd3fb11f9
Autor:
Mary C. Theroux, Sabina DiCindio, Lauren W. Averill, Christian Pizarro, Abraham Oommen, Michael B. Bober, Colleen Ditro, Jeffrey Campbell, Angela L. Duker, Taylor Jones, Vandna Passi, Patrick Barth, Richard J. Schmidt, Mary Little, Stuart Mackenzie, Shunji Tomatsu, William G. Mackenzie
Publikováno v:
Anesthesia & Analgesia.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4623ea6ae67ba5e080f8738775efcb5b
https://doi.org/10.1213/ane.0000000000006513
https://doi.org/10.1213/ane.0000000000006513
Autor:
Ricki S. Carroll, Robert C. Olney, Angela L. Duker, Ryan F. Coghlan, William G. Mackenzie, Colleen P. Ditro, Cassondra J. Brown, David A. O’Connell, William A. Horton, Brian Johnstone, Eric A. Espiner, Timothy C. R. Prickett, Michael B. Bober
Publikováno v:
Calcified Tissue International. 111:66-72
This is the accepted manuscript version of the work published in its final form as Carroll, R. S., Olney, R. C., Duker, A. L., Coghlan, R. F., Mackenzie, W. G., Ditro, C. P., Brown, C. J., O’Connell, D. A., Horton, W. A., Johnstone, B., Espiner, E.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::746f9839b6a293968f4b85ea6b425fc4
https://doi.org/10.1007/s00223-022-00966-0
https://doi.org/10.1007/s00223-022-00966-0
Publikováno v:
Journal of Clinical Immunology.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::fa4a0fce05a06a4828f0a6cf12260a56
https://doi.org/10.1007/s10875-023-01447-1
https://doi.org/10.1007/s10875-023-01447-1
Autor:
Julie Hoover-Fong, Janet M. Legare, Klane K. White, Melissa A. Villegas, Angela L. Duker, Michael B. Bober, Ericka Okenfuss, Ravi Savarirayan
Publikováno v:
Neurosurgery Clinics of North America. 33:7-15
Neurosurgical patients with genetic syndromes often receive care from multidisciplinary teams. Successful models range from multiple providers in one clinic space seeing a patient together to specialists located at different institutions working toge
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2c8ac9637349a6be4428bdf926ed764c
https://doi.org/10.1016/j.nec.2021.09.002
https://doi.org/10.1016/j.nec.2021.09.002