Výsledky vyhledávání - "Mona al Mukaddam"

Akademický článek

Study methodology and insights from the palovarotene clinical development program in fibrodysplasia ossificans progressiva

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

Zobrazit plný text záznamu

Plný text ve formátu HTML

Akademický článek

Patients with ACVR1R206H mutations have an increased prevalence of cardiac conduction abnormalities on electrocardiogram in a natural history study of Fibrodysplasia Ossificans Progressiva

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

Zobrazit plný text záznamu

Plný text ve formátu HTML

Akademický článek

Heterozygous variant in WNT1 gene in two brothers with early onset osteoporosis

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

Zobrazit plný text záznamu

Akademický článek

Natural history of fibrodysplasia ossificans progressiva: cross-sectional analysis of annotated baseline phenotypes

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

Zobrazit plný text záznamu

Plný text ve formátu HTML

Vyhledávací nástroje:

Upřesnit hledání