Zobrazeno 1 - 10
of 25
pro vyhledávání: '"Moira S. Cheung"'
Autor:
Ataf H. Sabir, Elizabeth Morley, Jameela Sheikh, Alistair D. Calder, Ana Beleza-Meireles, Moira S. Cheung, Alessandra Cocca, Mattias Jansson, Suzanne Lillis, Yogen Patel, Shu Yau, Christine M. Hall, Amaka C. Offiah, Melita Irving
Publikováno v:
BMC Medical Genomics, Vol 14, Iss 1, Pp 1-14 (2021)
Abstract Background Skeletal dysplasia (SD) conditions are rare genetic diseases of the skeleton, encompassing a heterogeneous group of over 400 disorders, and represent approximately 5% of all congenital anomalies. Developments in genetic and treatm
Externí odkaz:
https://doaj.org/article/2ba7db3ffb1d4355907a9d8ece8ef189
Autor:
Sophia D. Sakka, Moira S. Cheung
Publikováno v:
Therapeutic Advances in Musculoskeletal Disease, Vol 12 (2020)
Osteoporosis in children differs from adults in terms of definition, diagnosis, monitoring and treatment options. Primary osteoporosis comprises primarily of osteogenesis imperfecta (OI), but there are significant other causes of bone fragility in ch
Externí odkaz:
https://doaj.org/article/250d3316525b440b89ea083dd0f5b2aa
Publikováno v:
Endocrine Connections, Vol 9, Iss 10, Pp 1051-1056 (2020)
X-linked hypophosphataemia (XLH) is caused by a pathogenic variant in the PHEX gene, which leads to elevated circulating FGF23. High FGF23 causes hypophosphataemia, reduced active vitamin D concentration and clinically manifests as rickets in childre
Externí odkaz:
https://doaj.org/article/7538396827af4132981a38d8e7074a20
Autor:
Ataf H Sabir, Elizabeth Morley, Jameela Sheikh, Alistair D Calder, Ana Beleza-Meireles, Moira S Cheung, Alessandra Cocca, Mattias Jansson, Suzanne Lillis, Yogen Patel, Shu Yau, Christine M Hall, Amaka C Offiah, Melita Irving
BACKGROUNDSkeletal dysplasia (SD) conditions are rare genetic diseases of the skeleton, encompassing a heterogeneous group of over 400 disorders, and represent approximately 5% of all congenital anomalies. Developments in genetic and treatment techno
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ef8a2642989eb7a89a221d4fc79bc130
https://doi.org/10.21203/rs.3.rs-96770/v1
https://doi.org/10.21203/rs.3.rs-96770/v1
Autor:
Frank Rauch, Louis-Nicolas Veilleux, Annie Pouliot-Laforte, Martin Lemay, Moira S. Cheung, Francis H. Glorieux
Publikováno v:
The Journal of Clinical Endocrinology & Metabolism. 99:E356-E362
Results of previous studies suggested that children and adolescents with osteogenesis imperfecta (OI) type I have a muscle force deficit. However, muscle function has only been assessed by static isometric force tests and not in more natural conditio
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7f583f62e6f2a5ac6c41ac039d5755b4
https://doi.org/10.1210/jc.2013-3209
https://doi.org/10.1210/jc.2013-3209
Publikováno v:
The Journal of Clinical Endocrinology & Metabolism. 98:E990-E995
Context: We recently found that patients with X-linked hypophosphatemic rickets (XLH) have a muscle function deficit in the lower extremities. As muscle force and bone mass are usually closely related, we hypothesized that patients with XLH could als
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b0bb895de4ee7c4aa7f126bebde77851
https://doi.org/10.1210/jc.2012-4146
https://doi.org/10.1210/jc.2012-4146
Autor:
Pierre Moffatt, Liljana Lalic, Peter J. Roughley, Frank Rauch, Allan M. Lund, Somayyeh Fahiminiya, Jacek Majewski, Moira S. Cheung, Francis H. Glorieux, Norman Ramirez
Publikováno v:
Journal of Medical Genetics. 50:21-24
Background Osteogenesis imperfecta (OI) type V is an autosomal dominant bone fragility disorder that we had described a decade ago. Recent research has shown that OI type V is caused by a recurrent c.-14C>T mutation in IFITM5 . In the present study,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6a1d7c936c16d8e2f5c496a3b477eb20
https://doi.org/10.1136/jmedgenet-2012-101307
https://doi.org/10.1136/jmedgenet-2012-101307
Publikováno v:
The Journal of Clinical Endocrinology & Metabolism. 97:E1492-E1498
Animal studies suggest that hypophosphatemic rickets (HPR) is associated with muscle function deficits, but it is unknown whether humans with HPR have a muscle disorder.Our objective was to assess calf muscle size and density (an indicator of muscle
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f0a667fd56fa98faf5ec6495845a0919
https://doi.org/10.1210/jc.2012-1336
https://doi.org/10.1210/jc.2012-1336
Autor:
Janna Waltimo-Sirén, Moira S. Cheung, Francis H. Glorieux, Michel E Azouz, Frank Rauch, Heidi Arponen, Peter J. Roughley
Publikováno v:
Journal of Bone and Mineral Research. 26:405-413
Cranial base abnormalities are an important complication of osteogenesis imperfecta (OI), a hereditary bone fragility disorder that in most patients is caused by mutations affecting collagen type I. To elucidate which clinical characteristics are ass
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::99ab311ce72f088fa4393e3638bc9861
https://doi.org/10.1002/jbmr.220
https://doi.org/10.1002/jbmr.220
Publikováno v:
Journal of Bone and Mineral Research. 24:1282-1289
Intravenous pamidronate is the most widely used treatment for moderate to severe osteogenesis imperfecta (OI). Currently, there is no medical treatment for patients with mild OI. We conducted a single-center randomized double-blind placebo-controlled
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3640818b5c49d8844372f21cc3a4b36d
https://doi.org/10.1359/jbmr.090213
https://doi.org/10.1359/jbmr.090213