Severe congenital microcephaly with AP4M1 mutation, a case report

by Sarah Duerinckx, Helene Verhelst, Camille Perazzolo, Philippe David, Laurence Desmyter, Isabelle Pirson, Marc Abramowicz
Published 2017-05-01

tRNA methyltransferase homolog gene TRMT10A mutation in young onset diabetes and primary microcephaly in humans.

by Mariana Igoillo-Esteve, Anne Genin, Nelle Lambert, Julie Désir, Isabelle Pirson, Baroj Abdulkarim, Nicolas Simonis, Anais Drielsma, Lorella Marselli, Piero Marchetti, Pierre Vanderhaeghen, Décio L Eizirik, Wim Wuyts, Cécile Julier, Ali J Chakera, Sian Ellard, Andrew T Hattersley, Marc Abramowicz, Miriam Cnop
Published 2013-10-01

Homologous Transcription Factors DUX4 and DUX4c Associate with Cytoplasmic Proteins during Muscle Differentiation.

by Eugénie Ansseau, Jocelyn O Eidahl, Céline Lancelot, Alexandra Tassin, Christel Matteotti, Cassandre Yip, Jian Liu, Baptiste Leroy, Céline Hubeau, Cécile Gerbaux, Samuel Cloet, Armelle Wauters, Sabrina Zorbo, Pierre Meyer, Isabelle Pirson, Dalila Laoudj-Chenivesse, Ruddy Wattiez, Scott Q Harper, Alexandra Belayew, Frédérique Coppée
Published 2016-01-01

Phenotypes and genotypes in non‐consanguineous and consanguineous primary microcephaly: High incidence of epilepsy

by 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
Published 2021-09-01