Zobrazeno 1 - 10
of 58
pro vyhledávání: '"Laura Muiño Mosquera"'
Autor:
Jeffrey Aalders, Laurens Léger, Anthony Demolder, Laura Muiño Mosquera, Paul Coucke, Björn Menten, Julie De Backer, Jolanda van Hengel
Publikováno v:
Stem Cell Research, Vol 67, Iss , Pp 103036- (2023)
Marfan syndrome is an autosomal dominant genetic disorder resulting from pathogenic variants in FBN1 gene. FBN1 encodes for fibrillin-1, an important extracellular matrix protein. Impaired fibrillin-1 affects multiple organ systems, including the car
Externí odkaz:
https://doaj.org/article/8fb41cfcc7454bccb41cffab74b956df
Autor:
Ilse Meerschaut, Wouter Steyaert, Thierry Bové, Katrien François, Thomas Martens, Katya De Groote, Hans De Wilde, Laura Muiño Mosquera, Joseph Panzer, Kristof Vandekerckhove, Lara Moons, Petra Vermassen, Sofie Symoens, Paul J. Coucke, Daniël De Wolf, Bert Callewaert
Publikováno v:
Genes, Vol 13, Iss 7, p 1214 (2022)
Congenital heart defects (CHD) are the most common congenital anomalies in liveborn children. In contrast to syndromic CHD (SCHD), the genetic basis of isolated CHD (ICHD) is complex, and the underlying pathogenic mechanisms appear intricate and are
Externí odkaz:
https://doaj.org/article/c506044e17f54d52be022701b7aa8aa5
Autor:
Ilse Coomans, Sara De Kinder, Hannah Van Belleghem, Katya De Groote, Joseph Panzer, Hans De Wilde, Laura Muiño Mosquera, Katrien François, Thierry Bové, Thomas Martens, Daniël De Wolf, Jan Boone, Kristof Vandekerckhove
Publikováno v:
PLoS ONE, Vol 15, Iss 12, p e0244312 (2020)
BackgroundFew studies demonstrate delayed recovery after exercise in children and adults with heart disease. We assess the recovery patterns of gas exchange parameters and heart rate (HR) in children with repaired Tetralogy of Fallot (rToF) compared
Externí odkaz:
https://doaj.org/article/36d7107d839248abb403fadd2a22968d
Autor:
Ilse Meerschaut, Sarah Vergult, Annelies Dheedene, Björn Menten, Katya De Groote, Hans De Wilde, Laura Muiño Mosquera, Joseph Panzer, Kristof Vandekerckhove, Paul J. Coucke, Daniël De Wolf, Bert Callewaert
Publikováno v:
Genes, Vol 12, Iss 7, p 1048 (2021)
Copy number variations (CNVs) can modulate phenotypes by affecting protein-coding sequences directly or through interference of gene expression. Recent studies in cancer and limb defects pinpointed the relevance of non-coding gene regulatory elements
Externí odkaz:
https://doaj.org/article/953bc14c97ff4f059556c0b2fb1a1601
Autor:
Laura Muiño-Mosquera, Hans De Wilde, Daniel Devos, Danilo Babin, Luc Jordaens, Anthony Demolder, Katya De Groote, Daniel De Wolf, Julie De Backer
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-11 (2020)
Abstract Background Aortic root dilatation and—dissection and mitral valve prolapse are established cardiovascular manifestations in Marfan syndrome (MFS). Heart failure and arrhythmic sudden cardiac death have emerged as additional causes of morbi
Externí odkaz:
https://doaj.org/article/44c42345486a4e2cb37838d67c6a8b5c
Autor:
Lukas Rubbens, Laura Muiño-Mosquera, Joseph Panzer, Daniel De Wolf, Hans De Wilde, Katya De Groote, Ilse Meerschaut, Wendy De Wals, Luc Bruyndonckx, Kristof Vandekerckhove, Mahmoud Zaqout
Background and aim: Noonan syndrome (NS) is associated with different types of heart defects of which a supravalvular pulmonary stenosis ((SV)PS) is the most frequent. Possible treatment options are percutaneous balloon pulmonary valvuloplasty (BVP)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::028a4b5aa12fe9afdd45ae738c621715
https://doi.org/10.21203/rs.3.rs-2814810/v1
https://doi.org/10.21203/rs.3.rs-2814810/v1
Autor:
Julie De Backer, Laura Muiño Mosquera
Publikováno v:
Circulation: Genomic and Precision Medicine. 16
Autor:
Laura Muiño‐Mosquera, Fré Bauters, Karlien Dhondt, Hans De Wilde, Luc Jordaens, Katya De Groote, Daniel De Wolf, Katrien Hertegonne, Julie De Backer
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 7, Iss 8, Pp n/a-n/a (2019)
Abstract Background Marfan syndrome (MFS) is an inherited connective tissue disorder characterized by ectopia lentis, aortic root dilation and dissection and specific skeletal features. Obstructive sleep apnea (OSA) in MFS has been described earlier
Externí odkaz:
https://doaj.org/article/8b9a4db5e8da401e8b3b6338f23375d9
Autor:
Laura Muiño-Mosquera, Sarah Nordmeyer
Publikováno v:
Frontiers in Pediatrics. 11
Autor:
Sarah Nordmeyer, Laura Muiño Mosquera
Publikováno v:
Frontiers Research Topics ISBN: 9782832512043
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::217c4e7ada02efc972a3b11cb2dd9058
https://doi.org/10.3389/978-2-8325-1204-3
https://doi.org/10.3389/978-2-8325-1204-3