Zobrazeno 1 - 10
of 94
pro vyhledávání: '"Carmen De Cunto"'
Autor:
Robert J. Pignolo, Mona Al Mukaddam, Geneviève Baujat, Matthew A. Brown, Carmen De Cunto, Edward C. Hsiao, Richard Keen, Kim-Hanh Le Quan Sang, Donna R. Grogan, Rose Marino, Andrew R. Strahs, Frederick S. Kaplan
Publikováno v:
BMC Medical Research Methodology, Vol 23, Iss 1, Pp 1-13 (2023)
Abstract Background The design of clinical trials in rare diseases is often complicated by a lack of real-world translational knowledge. Fibrodysplasia ossificans progressiva (FOP) is an ultra-rare genetic disorder characterized by skeletal malformat
Externí odkaz:
https://doaj.org/article/3d06cf9e3e804e1d98d678d462963546
Autor:
Samuel Kou, Carmen De Cunto, Geneviève Baujat, Kelly L. Wentworth, Donna R. Grogan, Matthew A. Brown, Maja Di Rocco, Richard Keen, Mona Al Mukaddam, Kim-Hanh le Quan Sang, Umesh Masharani, Frederick S. Kaplan, Robert J. Pignolo, Edward C. Hsiao
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-10 (2020)
Abstract Background Genetic contributors to cardiac arrhythmias are often found in cardiovascular conduction pathways and ion channel proteins. Fibrodysplasia ossificans progressiva (FOP) is an ultra-rare disease of massive heterotopic ossification c
Externí odkaz:
https://doaj.org/article/ecf5cd5133884fc7ab8361ac88baf204
Autor:
Robert J. Pignolo, Geneviève Baujat, Matthew A. Brown, Carmen De Cunto, Maja Di Rocco, Edward C. Hsiao, Richard Keen, Mona Al Mukaddam, Kim-Hanh Le Quan Sang, Amy Wilson, Barbara White, Donna R. Grogan, Frederick S. Kaplan
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-11 (2019)
Abstract Background Fibrodysplasia Ossificans Progressiva (FOP; OMIM#135100) is an ultra-rare, severely disabling genetic disease characterized by congenital malformation of the great toes and progressive heterotopic ossification (HO) in muscles, ten
Externí odkaz:
https://doaj.org/article/e6cc4228a4494be991f5db29909762f4
Autor:
Robert J. Pignolo, Geneviève Baujat, Matthew A. Brown, Carmen De Cunto, Maja Di Rocco, Edward C. Hsiao, Richard Keen, Mona Al Mukaddam, Kim Hanh Le Quan Sang, Andrew Strahs, Rose Marino, Frederick S. Kaplan
Publikováno v:
Bone Reports, Vol 13, Iss , Pp 100607- (2020)
Externí odkaz:
https://doaj.org/article/f36899907b7e499e9d2620de71c717ca
Autor:
Robert J. Pignolo, Geneviève Baujat, Matthew A. Brown, Carmen De Cunto, Maja Di Rocco, Edward C. Hsiao, Richard Keen, Mona Al Mukaddam, Andrew Strahs, Donna R. Grogan, Rose Marino, Frederick S. Kaplan
Publikováno v:
Bone Reports, Vol 13, Iss , Pp 100609- (2020)
Externí odkaz:
https://doaj.org/article/800db7cf5eef47ba9acfef2c1a8b1db7
Autor:
Robert J Pignolo, Edward C Hsiao, Mona Al Mukaddam, Geneviève Baujat, Staffan K Berglund, Matthew A Brown, Angela M Cheung, Carmen De Cunto, Patricia Delai, Nobuhiko Haga, Peter Kannu, Richard Keen, Kim-Hanh Le Quan Sang, Edna E Mancilla, Rose Marino, Andrew Strahs, Frederick S Kaplan
Publikováno v:
Future Rare Diseases. 3
What is this summary about? This is a plain language summary of an article originally published in the Journal of Bone and Mineral Research. People with fibrodysplasia ossificans progressiva (FOP) become physically disabled over time as new bone form
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::db33eb8d7dcc99a2fe2f5ff206edaf19
https://doi.org/10.2217/frd-2022-0015
https://doi.org/10.2217/frd-2022-0015
Autor:
Robert J. Pignolo, Edward C. Hsiao, Mona Al Mukaddam, Geneviève Baujat, Staffan K. Berglund, Matthew A. Brown, Angela M. Cheung, Carmen De Cunto, Patricia Delai, Nobuhiko Haga, Peter Kannu, Richard Keen, Kim‐Hanh Le Quan Sang, Edna E. Mancilla, Rose Marino, Andrew Strahs, Frederick S. Kaplan
Fibrodysplasia ossificans progressiva (FOP) is an ultra-rare, severely disabling genetic disorder of progressive heterotopic ossification (HO). The single-arm, open-label, phase 3 MOVE trial (NCT03312634) assessed efficacy and safety of palovarotene,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::492896d9f94932c067c4d1dfb7363b11
http://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-204678
http://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-204678
Autor:
Robert J. Pignolo, Geneviève Baujat, Matthew A. Brown, Carmen De Cunto, Maja Di Rocco, Edward C. Hsiao, Richard Keen, Mona Al Mukaddam, Kim-Hanh Le Quan Sang, Amy Wilson, Barbara White, Donna R. Grogan, Frederick S. Kaplan
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-2 (2019)
The original version of this article [1] unfortunately included an error to an author’s name. Author Maja Di Rocco was erroneously presented as Maja DiRocco. The correct author name has been included in the author list of this Correction article an
Externí odkaz:
https://doaj.org/article/5c9fb80088c445a994d9f7d3ceb99ac8
Autor:
null Robert J. Pignolo, null Edward C. Hsiao, null Mona Al Mukaddam, null Geneviève Baujat, null Staffan K. Berglund, null Matthew A. Brown, null Angela M. Cheung, null Carmen De Cunto, null Patricia Delai, null Nobuhiko Haga, null Peter Kannu, null Richard Keen, null Kim‐Hanh Le Quan Sang, null Edna E. Mancilla, null Rose Marino, null Andrew Strahs, null Frederick S. Kaplan
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::48116c305a70e6443e123fdf0b160e3e
https://doi.org/10.1002/jbmr.4762/v2/response1
https://doi.org/10.1002/jbmr.4762/v2/response1
Publikováno v:
Archivos argentinos de pediatria.
Kawasaki disease (KD) is considered the leading cause of acquired heart disease in children younger than 5 years. Our objective was to know the clinical characteristics, coronary involvement, and course of patients seen at our facility. A case series
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::f86663402421e8768aeeb85fb99491cc
https://pubmed.ncbi.nlm.nih.gov/36227219
https://pubmed.ncbi.nlm.nih.gov/36227219