Zobrazeno 1 - 10
of 54
pro vyhledávání: '"Arnaud Vanlander"'
Autor:
Levi Hoste, Agnieszka Prytula, Jo Dehoorne, Ruth De Bruyne, Stephanie Van Biervliet, Kathleen De Waele, Evelyn Maes, Victoria Bordon, Arnaud Vanlander, Karlien Claes, Johan Vande Walle, Petra Schelstraete, Sabine Van daele, Filomeen Haerynck
Publikováno v:
Frontiers in Pediatrics, Vol 11 (2023)
BackgroundInfection with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) is clinically diverse, and children have a low risk of developing severe coronavirus disease 2019 (COVID-19). However, children with chronic diseases have a potenti
Externí odkaz:
https://doaj.org/article/58cf0144150749c395ff9f99ffc308b4
Autor:
Vicente A. Yépez, Mirjana Gusic, Robert Kopajtich, Christian Mertes, Nicholas H. Smith, Charlotte L. Alston, Rui Ban, Skadi Beblo, Riccardo Berutti, Holger Blessing, Elżbieta Ciara, Felix Distelmaier, Peter Freisinger, Johannes Häberle, Susan J. Hayflick, Maja Hempel, Yulia S. Itkis, Yoshihito Kishita, Thomas Klopstock, Tatiana D. Krylova, Costanza Lamperti, Dominic Lenz, Christine Makowski, Signe Mosegaard, Michaela F. Müller, Gerard Muñoz-Pujol, Agnieszka Nadel, Akira Ohtake, Yasushi Okazaki, Elena Procopio, Thomas Schwarzmayr, Joél Smet, Christian Staufner, Sarah L. Stenton, Tim M. Strom, Caterina Terrile, Frederic Tort, Rudy Van Coster, Arnaud Vanlander, Matias Wagner, Manting Xu, Fang Fang, Daniele Ghezzi, Johannes A. Mayr, Dorota Piekutowska-Abramczuk, Antonia Ribes, Agnès Rötig, Robert W. Taylor, Saskia B. Wortmann, Kei Murayama, Thomas Meitinger, Julien Gagneur, Holger Prokisch
Publikováno v:
Genome Medicine, Vol 14, Iss 1, Pp 1-26 (2022)
Abstract Background Lack of functional evidence hampers variant interpretation, leaving a large proportion of individuals with a suspected Mendelian disorder without genetic diagnosis after whole genome or whole exome sequencing (WES). Research studi
Externí odkaz:
https://doaj.org/article/c84ca93f6ba94f7fa60fa360f03b6d83
Autor:
Sara Capiau, Joél Smet, Boel De Paepe, Yilmaz Yildiz, Mutluay Arslan, Olivier Stevens, Maxime Verschoore, Hedwig Stepman, Sara Seneca, Arnaud Vanlander
Publikováno v:
Cells, Vol 11, Iss 3, p 489 (2022)
Human mitochondrial disease exhibits large variation of clinical phenotypes, even in patients with the same causative gene defect. We illustrate this heterogeneity by confronting clinical and biochemical data of two patients with the uncommon pathoge
Externí odkaz:
https://doaj.org/article/1f837d116821465b805ab9b219fbb9b7
Autor:
Kim Vancampenhout, Ben Caljon, Claudia Spits, Katrien Stouffs, An Jonckheere, Linda De Meirleir, Willy Lissens, Arnaud Vanlander, Joél Smet, Boel De Paepe, Rudy Van Coster, Sara Seneca
Publikováno v:
PLoS ONE, Vol 9, Iss 11, p e112950 (2014)
The advent of massive parallel sequencing (MPS) has revolutionized the field of human molecular genetics, including the diagnostic study of mitochondrial (mt) DNA dysfunction. The analysis of the complete mitochondrial genome using MPS platforms is n
Externí odkaz:
https://doaj.org/article/084d91aa6c5742289cd80d0e88be09ce
Autor:
E. Mercuri, A.M. Seferian, L. Servais, N. Deconinck, H. Stevenson, X. Ni, W. Zhang, L. East, S. Yonren, F. Muntoni, Nicolas Deconinck, Rudy Van Coster, Arnaud Vanlander, Andreea Seferian, Silvana De Lucia, Teresa Gidaro, Laura Vanden Brande, Laurent Servais, Janbernd Kirschner, Sabine Borell, Eugenio Mercuri, Claudia Brogna, Marika Pane, Lavinia Fanelli, Giulia Norcia, Francesco Muntoni, Chiara Brusa, Mary Chesshyre, Kate Maresh, Jaqueline Pitchforth, Lucia Schottlaender, Mariacristina Scoto, Arpana Silwal, Fedrica Trucco
Publikováno v:
Neuromuscular Disorders. 33:476-483
Autor:
Boel De Paepe, Joél Smet, Robert Kopajtich, Holger Prokisch, Rudy Van Coster, Arnaud Vanlander
Publikováno v:
Pediatr. Res., DOI: 10.1038/s41390-022-02169-7 (2022)
PEDIATRIC RESEARCH
PEDIATRIC RESEARCH
Autor:
Elizabeth E. Palmer, Michael Pusch, Alessandra Picollo, Caitlin Forwood, Matthew H. Nguyen, Vanessa Suckow, Jessica Gibbons, Alva Hoff, Lisa Sigfrid, Andre Megarbane, Mathilde Nizon, Benjamin Cogné, Claire Beneteau, Fowzan S. Alkuraya, Aziza Chedrawi, Mais O. Hashem, Hannah Stamberger, Sarah Weckhuysen, Arnaud Vanlander, Berten Ceulemans, Sulekha Rajagopalan, Kenneth Nunn, Stéphanie Arpin, Martine Raynaud, Constance S. Motter, Catherine Ward-Melver, Katrien Janssens, Marije Meuwissen, Diane Beysen, Nicola Dikow, Mona Grimmel, Tobias B. Haack, Emma Clement, Amy McTague, David Hunt, Sharron Townshend, Michelle Ward, Linda J. Richards, Cas Simons, Gregory Costain, Lucie Dupuis, Roberto Mendoza-Londono, Tracy Dudding-Byth, Jackie Boyle, Carol Saunders, Emily Fleming, Salima El Chehadeh, Marie-Aude Spitz, Amelie Piton, Bénédicte Gerard, Marie-Thérèse Abi Warde, Gillian Rea, Caoimhe McKenna, Sofia Douzgou, Siddharth Banka, Cigdem Akman, Jennifer M. Bain, Tristan T. Sands, Golder N. Wilson, Erin J. Silvertooth, Lauren Miller, Damien Lederer, Rani Sachdev, Rebecca Macintosh, Olivier Monestier, Deniz Karadurmus, Felicity Collins, Melissa Carter, Luis Rohena, Marjolein H. Willemsen, Charlotte W. Ockeloen, Rolph Pfundt, Sanne D. Kroft, Michael Field, Francisco E. R. Laranjeira, Ana M. Fortuna, Ana R. Soares, Vincent Michaud, Sophie Naudion, Sailaja Golla, David D. Weaver, Lynne M. Bird, Jennifer Friedman, Virginia Clowes, Shelagh Joss, Laura Pölsler, Philippe M. Campeau, Maria Blazo, Emilia K. Bijlsma, Jill A. Rosenfeld, Christian Beetz, Zöe Powis, Kirsty McWalter, Tracy Brandt, Erin Torti, Mikaël Mathot, Shekeeb S. Mohammad, Ruth Armstrong, Vera M. Kalscheuer
Publikováno v:
Molecular Psychiatry, 28, 668-697
Molecular psychiatry, Vol. 28, no. 2, p. 668-697 (2022)
Molecular psychiatry
Molecular Psychiatry
MOLECULAR PSYCHIATRY
CLCN4 concortium 2023, ' Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition ', Molecular psychiatry, vol. 28, no. 2, pp. 668-697 . https://doi.org/10.1038/s41380-022-01852-9
Molecular Psychiatry, 28, 2, pp. 668-697
Molecular Psychiatry, 28, 668-697. SPRINGERNATURE
Molecular psychiatry, Vol. 28, no. 2, p. 668-697 (2022)
Molecular psychiatry
Molecular Psychiatry
MOLECULAR PSYCHIATRY
CLCN4 concortium 2023, ' Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition ', Molecular psychiatry, vol. 28, no. 2, pp. 668-697 . https://doi.org/10.1038/s41380-022-01852-9
Molecular Psychiatry, 28, 2, pp. 668-697
Molecular Psychiatry, 28, 668-697. SPRINGERNATURE
Missense and truncating variants in the X-chromosome-linked CLCN4 gene, resulting in reduced or complete loss-of-function (LOF) of the encoded chloride/proton exchanger ClC-4, were recently demonstrated to cause a neurocognitive phenotype in both mal
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::39edfb04a13ae9bc854e89ef1416ed62
http://hdl.handle.net/2066/290784
http://hdl.handle.net/2066/290784
Autor:
Renske Oegema, Yue Si, Jennifer B. Humberson, Kathleen Brown, Lindsay Rhodes, Erika D'haenens, Richard H. van Jaarsveld, Melissa Byler, Michael Parker, Arnaud Vanlander, Ann Oostra, Sarah Vergult, Eva Jacobs, Farah Kanani, Francisca Millan, Bert Callewaert, Laurie H. Seaver, Annelies Dheedene, Margarita Saenz, Lindsay B. Henderson, Robert Roger Lebel
Publikováno v:
Clinical Genetics. 99:259-268
The CAMTA1-associated phenotype was initially defined in patients with intragenic deletions and duplications who showed nonprogressive congenital ataxia, with or without intellectual disability. Here, we describe 10 individuals with CAMTA1 variants:
Autor:
David J. Pagliarini, Kritika Bhalla, Karen Rosier, Brendan J. Floyd, Rudy Van Coster, John W.M. Creemers, Irma Lemmens, Edrees H. Rashan, Maxime Verschoore, Benjamin F. Cravatt, Matteo Dal Peraro, Katlijn Vints, Luc Régal, Joél Smet, Laetitia Aerts, Arnaud Vanlander, Yenthe Monnens, Natalia V. Gounko, Craig A. Bingman, Jan Tavernier, Molly T. McDevitt, Maria J. Marcaida
Publikováno v:
iScience
ISCIENCE
iScience, Vol 24, Iss 12, Pp 103460-(2021)
ISCIENCE
iScience, Vol 24, Iss 12, Pp 103460-(2021)
Summary Deficiency of the serine hydrolase prolyl endopeptidase-like (PREPL) causes a recessive metabolic disorder characterized by neonatal hypotonia, feeding difficulties, and growth hormone deficiency. The pathophysiology of PREPL deficiency and t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9d632ef57ff0933bdaa806f554927a20
https://hdl.handle.net/20.500.14017/c7bfdaf7-1b1c-4a72-9f07-6f40a36a6606
https://hdl.handle.net/20.500.14017/c7bfdaf7-1b1c-4a72-9f07-6f40a36a6606
Autor:
Sara, Capiau, Joél, Smet, Boel, De Paepe, Yilmaz, Yildiz, Mutluay, Arslan, Olivier, Stevens, Maxime, Verschoore, Hedwig, Stepman, Sara, Seneca, Arnaud, Vanlander
Publikováno v:
Cells. 11(3)
Human mitochondrial disease exhibits large variation of clinical phenotypes, even in patients with the same causative gene defect. We illustrate this heterogeneity by confronting clinical and biochemical data of two patients with the uncommon pathoge