Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Austin P. Gillies"'
Autor:
Katina Kartalias, Austin P. Gillies, Maria T. Peña, Andrea Estrada, Dorothy I. Bulas, Carlos R. Ferreira, Laura L. Tosi
Publikováno v:
BMC Medical Genetics, Vol 21, Iss 1, Pp 1-9 (2020)
Abstract Background Acroscyphodysplasia has been described as a phenotypic variant of acrodysostosis type 2 and pseudohypoparathyroidism. In acrodysostosis, skeletal features can include brachydactyly, facial hypoplasia, cone-shaped epiphyses, short
Externí odkaz:
https://doaj.org/article/bcbea1c6277843ad8b3b5f6a3d62676e
Autor:
Laura L. Tosi, Marianne K. Floor, Christina M. Dollar, Austin P. Gillies, Members of the Brittle Bone Disease Consortium, Tracy S. Hart, David D. Cuthbertson, V. Reid Sutton, Jeffrey P. Krischer
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-12 (2019)
Abstract Background Patient reported outcome (PRO) information is crucial for establishing better patient-provider communication, improving shared decision-making between clinicians and patients, assessing patient responses to therapeutic interventio
Externí odkaz:
https://doaj.org/article/33082ed494164f2ea1e0cb90ba6d2061
Autor:
Carole A. Samango-Sprouse, Austin P. Gillies, Andrea L. Gropman, Patricia Hendrie, Grace F. Porter, Francie L. Mitchell, Laura L. Tosi, Patricia C. Lasutschinkow, Selena L. Tran, Leigh Ruland, Elmer N. Rajah, Rick Peret, Teresa Sadeghin
Publikováno v:
American Journal of Medical Genetics Part A. 185:3531-3540
49,XXXXY is the rarest X and Y chromosomal variation, with an incidence of 1 in 80,000-100,000 live male births and has been associated with numerous musculoskeletal abnormalities. Data was collected from an international cohort of boys with 49,XXXXY
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8f7e827e9c7ee45ac1d84713da6d9a6b
https://doi.org/10.1002/ajmg.a.61578
https://doi.org/10.1002/ajmg.a.61578
Autor:
Marianne Floor, Tracy Hart, V. Reid Sutton, David Cuthbertson, Jeffrey P. Krischer, Laura L. Tosi, Austin P. Gillies, Christina M. Dollar
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-12 (2019)
Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases
Background Patient reported outcome (PRO) information is crucial for establishing better patient-provider communication, improving shared decision-making between clinicians and patients, assessing patient responses to therapeutic interventions, and i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fc93a85feb5530b9bc41b2e60a924a5f
http://link.springer.com/article/10.1186/s13023-019-1004-x
http://link.springer.com/article/10.1186/s13023-019-1004-x
Autor:
Carlos Ferreira, Andrea Estrada, Katina Kartalias, Austin P. Gillies, Maria T. Peña, Dorothy I. Bulas, Laura L. Tosi
Publikováno v:
BMC Medical Genetics
BMC Medical Genetics, Vol 21, Iss 1, Pp 1-9 (2020)
BMC Medical Genetics, Vol 21, Iss 1, Pp 1-9 (2020)
Background Acroscyphodysplasia has been described as a phenotypic variant of acrodysostosis type 2 and pseudohypoparathyroidism. In acrodysostosis, skeletal features can include brachydactyly, facial hypoplasia, cone-shaped epiphyses, short stature,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::30e45b95302f08ba339c7dd31e54778a
https://doi.org/10.1186/s12881-020-01127-6
https://doi.org/10.1186/s12881-020-01127-6
Autor:
Michael H. Stewart, Tracy Hart, E. Michael Lewiecki, Elmer N. Rajah, Laura L. Tosi, Austin P. Gillies
Publikováno v:
Current Osteoporosis Reports
Purpose of Review Rare bone diseases constitute ~ 5% of all known rare diseases and can require complex, multidisciplinary care. Advancing access to current medical knowledge is an important strategy for improving care for rare bone diseases througho
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3598cd4cdfb36416cd9136cf0a8fef4a
https://pubmed.ncbi.nlm.nih.gov/32514667
https://pubmed.ncbi.nlm.nih.gov/32514667
Autor:
Laura L. Tosi, Marianne Floor, T. Swezey, Tracy Hart, Austin P. Gillies, Bryce B. Reeve, Christina M. Dollar
Publikováno v:
Osteoporosis International
Summary There is limited research which examines health concerns of individuals with osteogenesis imperfecta (OI). Discussion groups with leaders of the adult OI community identified a broad range of medical priorities beyond fractures and brittle bo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5d201f88341f976733a66863ab03e04f
http://europepmc.org/articles/PMC6449303
http://europepmc.org/articles/PMC6449303
Autor:
Laura L. Tosi, Marianne Floor, Lindsay Weigley, Andrea Estrada, Mary Scott Roberts, Alison M. Boyce, Austin P. Gillies, Mirini Kim, Christina M. Dollar, Rachel I Gafni
Publikováno v:
Bone Abstracts.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::fae83b5e781478e4a526b2a06355f371
https://doi.org/10.1530/boneabs.7.oc7
https://doi.org/10.1530/boneabs.7.oc7
Autor:
Austin P. Gillies, Tracy Hart, David Cuthbertson, Laura L. Tosi, Christina M. Dollar, Jeffrey P. Krischer, Marianne Floor, V. Reid Sutton
BackgroundPatient reported outcome (PRO) information is crucial for establishing better patient-provider communication, improving shared decision making between clinicians and patients, and assessing patient responses to therapeutic interventions and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9c184cc99b8f3a5ad39521cf1a23cfd7
https://doi.org/10.1101/418251
https://doi.org/10.1101/418251
Autor:
Laura L. Tosi, Christina M. Dollar, Lindsey Weigley, Mirini Kim, Marianne Floor, Austin P. Gillies
Publikováno v:
Journal of Clinical Densitometry. 21:603
Introduction Bisphosphonates have been shown to increase bone mineral density (BMD) in adult osteoporosis patients and are potentially useful in pediatric patients with significantly reduced BMD due to chronic illness and musculoskeletal disorders. W
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::fad00154cfa2881b1fec743c734a2ecb
https://doi.org/10.1016/j.jocd.2018.05.020
https://doi.org/10.1016/j.jocd.2018.05.020