Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Francois-Guillaume Debray"'
Autor:
Aimé Lumaka, Corinne Fasquelle, Francois-Guillaume Debray, Serpil Alkan, Adeline Jacquinet, Julie Harvengt, François Boemer, André Mulder, Sandrine Vaessen, Renaud Viellevoye, Leonor Palmeira, Benoit Charloteaux, Anne Brysse, Saskia Bulk, Vincent Rigo, Vincent Bours
Publikováno v:
International Journal of Molecular Sciences, Vol 24, Iss 4, p 4003 (2023)
Rapid Whole Genome Sequencing (rWGS) represents a valuable exploration in critically ill pediatric patients. Early diagnosis allows care to be adjusted. We evaluated the feasibility, turnaround time (TAT), yield, and utility of rWGS in Belgium. Twent
Externí odkaz:
https://doaj.org/article/8a0dae43feb44b0b9eb680a62995f7d0
Autor:
Hernan Valdes-Socin, Cecile Libioulle, Julie Harvengt, Axelle Pintiaux, Christelle Jonas, Anne Simone Parent, Vincent Geenen, Vincianne Corman, Francois Guillaume Debray, Vincianne Dideberg, Guy T'Sjoen, Leerner Anne De, Dominique Beckers, Anne Destree, Dominique Roland, Damien Lederer, Marina Boscolo, Vincent Bours, Dominique Maiter, Albert Beckers
Publikováno v:
Endocrine Abstracts.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6f090a78edc8899acf7bb1e4456148a2
https://doi.org/10.1530/endoabs.56.gp217
https://doi.org/10.1530/endoabs.56.gp217
Autor:
Estelle Colin, Yannis Duffourd, Martin Chevarin, Emilie Tisserant, Simon Verdez, Julien Paccaud, Ange-Line Bruel, Frédéric Tran Mau-Them, Anne-Sophie Denommé-Pichon, Julien Thevenon, Hana Safraou, Thomas Besnard, Alice Goldenberg, Benjamin Cogné, Bertrand Isidor, Julian Delanne, Arthur Sorlin, Sébastien Moutton, Mélanie Fradin, Christèle Dubourg, Magali Gorce, Dominique Bonneau, Salima El Chehadeh, François-Guillaume Debray, Martine Doco-Fenzy, Kevin Uguen, Nicolas Chatron, Bernard Aral, Nathalie Marle, Paul Kuentz, Anne Boland, Robert Olaso, Jean-François Deleuze, Damien Sanlaville, Patrick Callier, Christophe Philippe, Christel Thauvin-Robinet, Laurence Faivre, Antonio Vitobello
Publikováno v:
Frontiers in Cell and Developmental Biology, Vol 11 (2023)
Purpose: Multi-omics offer worthwhile and increasingly accessible technologies to diagnostic laboratories seeking potential second-tier strategies to help patients with unresolved rare diseases, especially patients clinically diagnosed with a rare OM
Externí odkaz:
https://doaj.org/article/4593e6258ee746c78872071719392347
Autor:
Sarah Duerinckx, Julie Désir, Camille Perazzolo, Cindy Badoer, Valérie Jacquemin, Julie Soblet, Isabelle Maystadt, Yusuf Tunca, Bettina Blaumeiser, Berten Ceulemans, Winnie Courtens, François‐Guillaume Debray, Anne Destree, Koenraad Devriendt, Anna Jansen, Kathelijn Keymolen, Damien Lederer, Bart Loeys, Marije Meuwissen, Stéphanie Moortgat, Geert Mortier, Marie‐Cécile Nassogne, Tayeb Sekhara, Rudy Van Coster, Jenny Van Den Ende, Nathalie Van der Aa, Hilde Van Esch, Olivier Vanakker, Helene Verhelst, Catheline Vilain, Sarah Weckhuysen, Sandrine Passemard, Alain Verloes, Alec Aeby, Nicolas Deconinck, Patrick Van Bogaert, Isabelle Pirson, Marc Abramowicz
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 9, Iss 9, Pp n/a-n/a (2021)
Abstract Background Primary microcephaly (PM) is defined as a significant reduction in occipitofrontal circumference (OFC) of prenatal onset. Clinical and genetic heterogeneity of PM represents a diagnostic challenge. Methods We performed detailed ph
Externí odkaz:
https://doaj.org/article/7feac2e044344c5c91673d23c2f81236
Autor:
Nynke Simons, François-Guillaume Debray, Nicolaas C. Schaper, Edith J.M. Feskens, Carla E.M. Hollak, Judith A.P. Bons, Jörgen Bierau, Alfons J.H.M. Houben, Casper G. Schalkwijk, Coen D.A. Stehouwer, David Cassiman, Martijn C.G.J. Brouwers
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 23, Iss , Pp - (2020)
Objective: Previous studies have shown that patients with hereditary fructose intolerance (HFI) are characterized by a greater intrahepatic triglyceride content, despite a fructose-restricted diet. The present study aimed to examine the long-term con
Externí odkaz:
https://doaj.org/article/5f04753f27334e6fa9f366e194480bc1
Autor:
François Boemer, Claire Josse, Géraldine Luis, Emmanuel Di Valentin, Jérôme Thiry, Christophe Cello, Jean-Hubert Caberg, Caroline Dadoumont, Julie Harvengt, Aimé Lumaka, Vincent Bours, François-Guillaume Debray
Publikováno v:
International Journal of Molecular Sciences, Vol 23, Iss 4, p 2253 (2022)
Branched-chain amino acids (BCAA) are essential amino acids playing crucial roles in protein synthesis and brain neurotransmission. Branched-chain ketoacid dehydrogenase (BCKDH), the flux-generating step of BCAA catabolism, is tightly regulated by re
Externí odkaz:
https://doaj.org/article/31a9bf404eb54c159a3aaac7eda598db
Autor:
Julie Harvengt, Catherine Wanty, Boel De Paepe, Christine Sempoux, Nicole Revencu, Joél Smet, Rudy Van Coster, Willy Lissens, Sara Seneca, Laurent Weekers, Etienne Sokal, François-Guillaume Debray
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 1, Iss C, Pp 223-231 (2014)
A 1-year-old girl born to consanguineous parents presented with unexplained liver failure, leading to transplantation at 19 months. Subsequent partial splenectomy for persistent cytopenia showed the presence of foamy cells, and Gaucher disease was co
Externí odkaz:
https://doaj.org/article/fd556b0c77d94429ba45fcb9552d5c29