Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Sien Van Loo"'
Autor:
Willem Roosens, Frederik Staels, Sien Van Loo, Stephanie Humblet-Baron, Isabelle Meyts, Hadewijch De Samblanx, Chris Verslype, Hannah van Malenstein, Schalk van der Merwe, Wim Laleman, Rik Schrijvers
Publikováno v:
Frontiers in Immunology, Vol 14 (2023)
Common variable immunodeficiency (CVID) associated liver disease is an underrecognized and poorly studied non-infectious complication that lacks an established treatment. We describe a CVID patient with severe multiorgan complications, including non-
Externí odkaz:
https://doaj.org/article/e21d3fdefa9b4e7db721bc3581145977
Autor:
Frederik Staels, Kerstin De Keukeleere, Matias Kinnunen, Salla Keskitalo, Flaminia Lorenzetti, Michiel Vanmeert, Teresa Prezzemolo, Emanuela Pasciuto, Eveline Lescrinier, Xavier Bossuyt, Margaux Gerbaux, Mathijs Willemsen, Julika Neumann, Sien Van Loo, Anniek Corveleyn, Karen Willekens, Ingeborg Stalmans, Isabelle Meyts, Adrian Liston, Stephanie Humblet-Baron, Mikko Seppänen, Markku Varjosalo, Rik Schrijvers
Publikováno v:
Frontiers in Immunology, Vol 13 (2022)
NFKB1 haploinsufficiengcy was first described in 2015 in three families with common variable immunodeficiency (CVID), presenting heterogeneously with symptoms of increased infectious susceptibility, skin lesions, malignant lymphoproliferation and aut
Externí odkaz:
https://doaj.org/article/85f7fb4050f842d3bfe2feb08301f40d
Autor:
Ramon Y. Birnbaum, Sarah Vergult, Francisco Avila Cobos, Björn Menten, Reut Eshel, Karen Verboom, Reut Bar-Yaacov, Inbar Bariah, Lies Vantomme, Sien Van Loo, Eva D'haene, Rawan Alatawna
Publikováno v:
HUMAN MOLECULAR GENETICS
Human Molecular Genetics
Hum Mol Genet
Human Molecular Genetics
Hum Mol Genet
Mutations in myocyte enhancer factor 2C (MEF2C), an important transcription factor in neurodevelopment, are associated with a Rett-like syndrome. Structural variants (SVs) upstream of MEF2C, which do not disrupt the gene itself, have also been found
Autor:
Eva D’haene, Reut Bar-Yaacov, Inbar Bariah, Lies Vantomme, Sien Van Loo, Francisco Avila Cobos, Karen Verboom, Reut Eshel, Rawan Alatawna, Björn Menten, Ramon Y Birnbaum, Sarah Vergult
Publikováno v:
Human Molecular Genetics. 29:879-880