Zobrazeno 1 - 10
of 60
pro vyhledávání: '"Mona al Mukaddam"'
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:
Christie G. Turin, Kyu Sang Joeng, Staci Kallish, Anna Raper, Stephanie Asher, Philippe M. Campeau, Amna N. Khan, Mona Al Mukaddam
Publikováno v:
Bone Reports, Vol 15, Iss , Pp 101118- (2021)
Osteoporosis is a multifactorial disorder characterized by low bone mass and strength, leading to increased risk of fracture. The WNT pathway plays a critical role in bone remodeling by enhancing osteoblastic differentiation, which promotes bone form
Externí odkaz:
https://doaj.org/article/0dcce921e7d042479b48aaf08c8ca642
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
Publikováno v:
AACE Clinical Case Reports, Vol 4, Iss 6, Pp e467-e471 (2018)
ABSTRACT: Objective: Discuss a unique presentation of hypoparathyroidism, an orphan disease with an estimated prevalence of 37 per 100,000 person-years in the United States.Methods: Describe the clinical presentation and pertinent laboratory data of
Externí odkaz:
https://doaj.org/article/6792af32e09f465cb5fb52735426d8e8
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:
Mona, Al Mukaddam, Katherine S, Toder, Michelle, Davis, Amanda, Cali, Moira, Liljesthröm, Suzanne, Hollywood, Kim, Croskery, Anne-Sophie, Grandoulier, Elaine A, Böing, John D, Whalen, Frederick S, Kaplan
Publikováno v:
Expert Review of Pharmacoeconomics & Outcomes Research. 22:1199-1213
Fibrodysplasia ossificans progressiva (FOP) is an ultra-rare, genetic disorder of heterotopic ossification within soft, connective tissues resulting in limited joint function and severe disability. We present results from an international burden of i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c88d53c85d6b4c01802566aa12a8076e
https://doi.org/10.1080/14737167.2022.2115360
https://doi.org/10.1080/14737167.2022.2115360
Autor:
Carter M. Lindborg, Mona Al Mukaddam, Genevieve Baujat, Tae-Joon Cho, Carmen L. De Cunto, Patricia L. R. Delai, Elisabeth M. W. Eekhoff, Nobuhiko Haga, Edward C. Hsiao, Rolf Morhart, Ruben de Ruiter, Christiaan Scott, Petra Seemann, Małgorzata Szczepanek, Jacek Tabarkiewicz, Robert J. Pignolo, Frederick S. Kaplan
Publikováno v:
Clinical Orthopaedics & Related Research.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a7fbfcb916f4801cba3ea49a6ed7aec5
https://doi.org/10.1097/corr.0000000000002672
https://doi.org/10.1097/corr.0000000000002672