Zobrazeno 1 - 10
of 40
pro vyhledávání: '"Donna R. Grogan"'
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, 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, 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 Geneviève Baujat, null Edward C. Hsiao, null Richard Keen, null Amy Wilson, null Jeff Packman, null Andrew L. Strahs, null Donna R. Grogan, null Frederick S. Kaplan
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5073ee8f43c3ba4daaf507b022118d1b
https://doi.org/10.1002/jbmr.4655/v3/response1
https://doi.org/10.1002/jbmr.4655/v3/response1
Autor:
Robert J. Pignolo, Geneviève Baujat, Edward C. Hsiao, Richard Keen, Amy Wilson, Jeff Packman, Andrew L. Strahs, Donna R. Grogan, Frederick S. Kaplan
Publikováno v:
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research. 37(10)
Fibrodysplasia ossificans progressiva (FOP) is an ultra-rare genetic disorder characterized by progressive heterotopic ossification (HO), often heralded by flare-ups, leading to reduced movement and life expectancy. This placebo-controlled, double-bl
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6b8edde39d2fd937cd66776cea930430
https://pubmed.ncbi.nlm.nih.gov/35854638
https://pubmed.ncbi.nlm.nih.gov/35854638
Autor:
Frederick S. Kaplan, Richard Keen, Maja Di Rocco, Mona Al Mukaddam, Carmen DeCunto, Donna R. Grogan, Edward C. Hsiao, Robert J. Pignolo, Geneviève Baujat, Matthew A. Brown, Samuel Kou, Kelly L. Wentworth
Publikováno v:
Journal of the Endocrine Society
Background Genetic contributors to cardiac arrhythmias often found in cardiovascular conduction pathway and channel proteins. However, genes outside of these categories can contribute to cardiovascular conduction abnormalities. Fibrodysplasia ossific
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3c457b086bac7b2869a164336e05bb43
https://doi.org/10.1210/jendso/bvaa046.238
https://doi.org/10.1210/jendso/bvaa046.238
Publikováno v:
Muscle & Nerve. 55:323-332
Introduction: This observational, cross-sectional, single-center study aimed to identify instruments capable of measuring disease progression in transthyretin familial amyloid polyneuropathy (TTR-FAP). Methods: The relationship between disease stage
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::bb2e31fc65617607684808ba3d50ea0e
https://doi.org/10.1002/mus.25257
https://doi.org/10.1002/mus.25257
Autor:
Cunto Carmen De, Rocco Maja Di, Edward C. Hsiao, Richard Keen, Geneviève Baujat, Donna R. Grogan, Frederick Kaplan, Mukaddam Mona Al, Robert J. Pignolo, Matthew A. Brown
Publikováno v:
Bone Abstracts.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5ed57e67b751204875eb9f2172e72b44
https://doi.org/10.1530/boneabs.7.oc27
https://doi.org/10.1530/boneabs.7.oc27