Zobrazeno 1 - 10
of 81
pro vyhledávání: '"Catheline, Vilain"'
Autor:
Sarah McNeilly, Cameron R. Thomson, Laura Gonzalez-Trueba, Yuan Yan Sin, Alessandra Granata, Graham Hamilton, Michelle Lee, Erin Boland, John D. McClure, Cristina Lumbreras-Perales, Alisha Aman, Apoorva A. Kumar, Marco Cantini, Caglar Gök, Delyth Graham, Yasuko Tomono, Christopher D. Anderson, Yinhui Lu, Colin Smith, Hugh S. Markus, Marc Abramowicz, Catheline Vilain, Rustam Al-Shahi Salman, Manuel Salmeron-Sanchez, Atticus H. Hainsworth, William Fuller, Karl E. Kadler, Neil J. Bulleid, Tom Van Agtmael
Publikováno v:
EBioMedicine, Vol 107, Iss , Pp 105315- (2024)
Summary: Background: Genetic variants in COL4A1 and COL4A2 (encoding collagen IV alpha chain 1/2) occur in genetic and sporadic forms of cerebral small vessel disease (CSVD), a leading cause of stroke, dementia and intracerebral haemorrhage (ICH). Ho
Externí odkaz:
https://doaj.org/article/d38bd2e3219f479e9d1e302cbcbad3f9
Autor:
Roberto Santalucia, Catheline Vilain, Julie Soblet, Corinne De Laet, Aline Vuckovic, Jörg König, Alec Aeby
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 9, Iss 7, Pp 1095-1099 (2022)
Abstract Recessive mutations in the SLC13A5 gene encoding the sodium‐dependent citrate transporter are a recently identified cause of developmental and epileptic encephalopathy. Here, we describe a child harboring a novel homozygous loss‐of‐fun
Externí odkaz:
https://doaj.org/article/5c96c07e68da447197a7e29b34e943a4
Autor:
Annick Massart, Richard Danger, Catharina Olsen, Mary J. Emond, Ondrej Viklicky, Valérie Jacquemin, Julie Soblet, Sarah Duerinckx, Didier Croes, Camille Perazzolo, Petra Hruba, Dorien Daneels, Ben Caljon, Mehmet Sukru Sever, Julio Pascual, Marius Miglinas, the Renal Tolerance Investigators, Isabelle Pirson, Lidia Ghisdal, Guillaume Smits, Magali Giral, Daniel Abramowicz, Marc Abramowicz, Sophie Brouard, Maria Aguilar Rodríguez, Friederike Bachmann, Rajendra Bahadur Shahi, Frederike Bemelman, Luboslav Bena, Luigi Biancone, Laura Braun, Klemens Budde, Alejandro Camargo-Salamanca, Katia Clemente, Hulya Colak, Adrian Covic, Jacques Degreve, Philippe Gatault, François Glowacki, Karine Hadaya, Marc Hazzan, Bénédicte Janbon, Christophe Legendre, Umberto Maggiore, Anja Mühlfeld, Maarten Naesens, Christian Noël, Rainer Oberbauer, Evangeline Pillebout, Gian Benedetto Piredda, Francesco Pisani, Ana Ramírez Puga, Tomas Reischig, Francisco González-Roncero, Søren Schwartz Sørensen, Daniel Seron Micas, Nurhan Seyahi, Dimitrie Siriopol, Goce Spasovski, Jean-François Subra, Erik Teugels, Serhan Tuǧlular, Sonia Van Dooren, Catheline Vilain, Florence Villemain, Xavier Warling, Bruno Watschinger, Laurent Weekers
Publikováno v:
Frontiers in Medicine, Vol 9 (2023)
BackgroundRenal operational tolerance is a rare and beneficial state of prolonged renal allograft function in the absence of immunosuppression. The underlying mechanisms are unknown. We hypothesized that tolerance might be driven by inherited protein
Externí odkaz:
https://doaj.org/article/728d19d9593f48acbfe88073eed48e31
Autor:
Giovanna D’Amico, Corinne De Laet, Guillaume Smits, Deborah Salik, Guillaume Deprez, Catheline Vilain, Pascale Perlot, Alfredo Vicinanza
Publikováno v:
Pediatric Reports, Vol 13, Iss 3, Pp 444-449 (2021)
We present a case of a transient acquired zinc deficiency in a breast-fed, 4-month-old-male prematurely born infant, with acrodermatitis enteropathica-like symptoms such as crusted, eroded, erythemato-squamous eruption in periorificial and acral patt
Externí odkaz:
https://doaj.org/article/83d2e8fe05ea4ae38ba9851fb7bb9ac7
Autor:
Pascal Brouillard, Matthieu J. Schlögel, Nassim Homayun Sepehr, Raphaël Helaers, Angela Queisser, Elodie Fastré, Simon Boutry, Sandra Schmitz, Philippe Clapuyt, Frank Hammer, Anne Dompmartin, Annamaria Weitz-Tuoretmaa, Jussi Laranne, Louise Pasquesoone, Catheline Vilain, Laurence M. Boon, Miikka Vikkula
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-12 (2021)
Abstract Background Theragnostic management, treatment according to precise pathological molecular targets, requests to unravel patients’ genotypes. We used targeted next-generation sequencing (NGS) or digital droplet polymerase chain reaction (ddP
Externí odkaz:
https://doaj.org/article/3222fedb0916439490030c10e72aa9b4
Autor:
Claire Balza, Giulia Garofalo, Teresa Cos, Julie Désir, Xin Kang, Kathelijn Keymolen, Julie Soblet, Kim Van Berkel, Catheline Vilain, Wafa Ben Abbou, Marie Cassart
Publikováno v:
Clinical Case Reports, Vol 9, Iss 12, Pp n/a-n/a (2021)
Abstract Reelinopathies cause a distinctive lissencephaly type associated with cerebellar hypoplasia. To help further management, we wanted to report here the first prenatal diagnosis due to a homozygous inherited reelinopathy.
Externí odkaz:
https://doaj.org/article/c7092051c69f455cac8f7810c200e5eb
Autor:
Fiorenza Ulgiati, Sophie Lhoir, Irina Balikova, Sylvie Tenoutasse, Emese Boros, Catheline Vilain, Claudine Heinrichs, Cécile Brachet
Publikováno v:
Frontiers in Endocrinology, Vol 12 (2021)
ObjectiveExperimental evidence suggests that the clinical manifestations of Triple A syndrome result from oxidative stress. Several conditions caused by oxidative stress display retinal involvement. Our objective was to assess the retina and optic ne
Externí odkaz:
https://doaj.org/article/46beb4bd2b034a6c9293f8c92e894141
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:
Hazim Kadhim, Eliane El-Howayek, Sandra Coppens, Jennifer Duff, Ana Topf, Jean-Paul Kaleeta, Paolo Simoni, Grammatina Boitsios, Gauthier Remiche, Volker Straub, Catheline Vilain, Nicolas Deconinck
Publikováno v:
Neuromuscular Disorders. 33:410-416
Autor:
Déborah Salik, Florine Moulart, Martina Marangoni, Dimitrios Salamouras, Marie-Sophie André, Catheline Vilain
Publikováno v:
Skin Appendage Disorders. 9:64-68
Introduction: Ectodermal dysplasias (EDs) are a large group of rare and complex genetic disorders, affecting the development of two or more ectodermal structures. Hypohidrotic ED (HED) is the most frequent ED’s phenotype and is characterized by hyp