Zobrazeno 1 - 10
of 14
pro vyhledávání: '"Mercedes, Rodriguez Celin"'
Autor:
Mercedes Rodriguez Celin, Hollis Johnson, Joshua Fields, Hannah Brodner, Jennifer Stengrevics, Ellen Cody, Lauren Burgunder, Michael Muriello, Kelly Jones
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 100937- (2024)
Externí odkaz:
https://doaj.org/article/3324e902d2644b7abeda6b5fa3ab87a6
Autor:
Mercedes Rodriguez Celin, MD, Karen M. Kruger, PhD, Angela Caudill, PT, MPT, Sandesh C.S. Nagamani, MD, Brittle Bone Disorders Consortium (BBDC), Linked Clinical Research Centers (LCRC), Gerald F. Harris, PhD, PE, Peter A. Smith, MD
Publikováno v:
JBJS Open Access, Vol 5, Iss 3, Pp e20.00031-e20.00031 (2020)
Background:. Osteogenesis imperfecta (OI), a heritable connective tissue disorder with wide clinical variability, predisposes to recurrent fractures and bone deformity. Management requires a multidisciplinary approach in which intramedullary rodding
Externí odkaz:
https://doaj.org/article/dcb7a336eee448cb96704ffae3a7a32c
Autor:
Mercedes, Rodriguez Celin, Karen M, Kruger, Angela, Caudill, Chaya N, Murali, Sandesh C S, Nagamani, Members Of The Brittle Bone Disorders Consortium Bbdc, Peter A, Smith, Gerald F, Harris
Publikováno v:
American Journal of Medical Genetics Part A. 191:160-172
The objective was to describe pain characteristics and treatments used in individuals with varying severity of osteogenesis imperfecta (OI) and investigate pain-associated variables. This work was derived from a multicenter, longitudinal, observation
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2600962ebc9f28d5e9aad4bb0317e270
https://doi.org/10.1002/ajmg.a.63009
https://doi.org/10.1002/ajmg.a.63009
Autor:
Mercedes Rodriguez Celin, Jackeline C. Simon, Alissa V. Fial, Gerald F. Harris, Peter A. Smith, Joseph Krzak, Karen M. Kruger
Publikováno v:
Current osteoporosis reports. 18(5)
The goal of this systematic review is to analyze the effectiveness of bisphosphonates (BPs) to treat bone pain in children and adolescents who have diseases with skeletal involvement. We included 24 studies (2 randomized controlled trials, 3 non-rand
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::47e59d5bbcf01a50614d6349751983f3
https://pubmed.ncbi.nlm.nih.gov/33119810
https://pubmed.ncbi.nlm.nih.gov/33119810
Autor:
Alissa V. Fial, Mercedes Rodriguez Celin, Jacqueline C. Simon, Joseph Krzak, Gerald F. Harris, Peter A. Smith, Karen M. Kruger
Publikováno v:
Current Osteoporosis Reports. 20:226-226
In a previous version of this publication, the author Mercedes Rodriguez Celin’s name was listed as M.R. Celin.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::984c0823a5123c2371e25116a4fe1813
https://doi.org/10.1007/s11914-020-00637-9
https://doi.org/10.1007/s11914-020-00637-9
Autor:
Robert D. Steiner, V. Reid Sutton, Mercedes Rodriguez Celin, Tracy Hart, Eric T. Rush, Michaela Durigova, Gerald F. Harris, Frank Rauch, Peter A. Smith, Michael B. Bober, Jeffrey P. Krischer, Angela Caudill, David Cuthbertson, Peter H. Byers, Karen M. Kruger, Francis H. Glorieux, Sandesh C.S. Nagamani, Jay R. Shapiro, Brendan Lee
Publikováno v:
Genet Med
BACKGROUND: Osteogenesis imperfecta (OI) is a genetic connective tissue disorder characterized by increased bone fragility and recurrent fractures. The phenotypic severity of OI has a significant influence on the ability to walk but little is known a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cb409fe40c0628e585f33c71152cba63
https://pubmed.ncbi.nlm.nih.gov/30918359
https://pubmed.ncbi.nlm.nih.gov/30918359
Publikováno v:
Archivos Argentinos de Pediatria. 116
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::bc43108dd02ee2496d1d736b45139078
https://doi.org/10.5546/aap.2018.e560
https://doi.org/10.5546/aap.2018.e560
Autor:
Michaela Durigova, Frank Rauch, Mercedes Rodriguez Celin, Brendan Lee, Angela Caudill, Sandesh C.S. Nagamani, Tracy Hart, Michael B. Bober, Jay R. Shapiro, David Cuthbertson, Gerald F. Harris, Peter A. Smith, Peter H. Byers, Jeffrey P. Krischer, V. Reid Sutton, Karen M. Kruger, Francis H. Glorieux, Eric T. Rush, Robert D. Steiner
BackgroundOsteogenesis imperfecta (OI) is a genetic connective tissue disorder characterized by increased bone fragility and recurrent fractures. The phenotypic severity of OI has a significant influence on the ability to walk but little is known abo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::86c3bfaafb25002c27c3e2f0bab2b5c0
Publikováno v:
Annals of human genetics. 82(6)
Osteogenesis imperfecta (OI) is the most common skeletal dysplasia, which predisposes to recurrent fractures and bone deformity and presents with wide clinical variability. More than 80% of OI cases are related to dominantly inherited mutations in CO
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0312cdb968b80babe5ebd87ebc11c090
https://pubmed.ncbi.nlm.nih.gov/30039845
https://pubmed.ncbi.nlm.nih.gov/30039845
Publikováno v:
Archivos argentinos de pediatria. 116(4)
Cleidocranial dysplasia is an autosomal dominant skeletal dysplasia caused by mutations in the RUNX2 gene; its prevalence has been estimated at 1/1 000 000 newborn infants. This study presents 37 patients (22 girls) assessed between 1992 and 2016 at
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6eadd3b9b679c8a155d2a3202f3c9cde
https://pubmed.ncbi.nlm.nih.gov/30016033
https://pubmed.ncbi.nlm.nih.gov/30016033