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Displaying 11 results.
    • Journal article
    Implementation of non-invasive prenatal testing by semiconductor sequencing in a genetic laboratory.
    Dheedene, Annelies Sante, Tom De Smet, Matthias Vanbellinghen, Jean-François[UCL] Grisart, Bernard Vergult, Sarah Janssens, Sandra Menten, Björn (2016) Prenatal Diagnosis — Vol. 36, no.8, p. 699-707 (2016)
    • Journal article
    Intron 22 homologous regions are implicated in exons 1-22 duplications of the F8 gene.
    Lannoy, Nathalie[UCL] Grisart, Bernard Eeckhoudt, Stéphane[UCL] Dumoulin, Christine[UCL] Lambert, Catherine[UCL] Vikkula, Miikka[UCL] Hermans, Cédric[UCL] (2013) European Journal of Human Genetics — Vol. 21, no. 9, p. 970–976 (2013)
    • Dissertation
    Cinétique de développement et activité transcriptionnelle de l'embryon bovin produit in vitro
    Grisart, Bernard[UCL] (1996)
    • Journal article
    Deletion of KDM6A, a histone demethylase interacting with MLL2, in three patients with kabuki syndrome
    Lederer, Damien Grisart, Bernard Digilio, Maria Cristina Benoit, Valérie Crespin, Marianne Ghariani, Sophie Claire Maystadt, Isabelle Dallapiccola, Bruno Dumoulin, Christine[UCL] (2012) American Journal of Human Genetics — Vol. 90, no. 1, p. 119-124 (2012)
    • Journal article
    Implementation of genomic arrays in prenatal diagnosis: The Belgian approach to meet the challenges
    Vanakker, Olivier Vilain, Catheline Janssens, Katrien Van der Aa, Nathalie Smits, Guillaume Bandelier, Claude[UCL] Blaumeiser, Bettina Bulk, Saskia Caberg, Jean-Hubert De Leener, Anne De Rademaeker, Marjan de Ravel, Thomy Desir, Julie Destree, Anne Dheedene, Annelies Gaillez, Stéphane Grisart, Bernard Hellin, Ann-Cécile Janssens, Sandra Keymolen, Kathelijn Menten, Björn Pichon, Bruno Ravoet, Marie[UCL] Revencu, Nicole[UCL] Rombout, Sonia Staessens, Catherine Van Den Bogaert, Ann Van Den Bogaert, Kris Vermeesch, Joris R. Kooy, Frank Sznajer, Yves[UCL] Devriendt, Koen (2014) European Journal of Medical Genetics — Vol. 57, no. 4, p. 151-156 (2014)
    • Journal article
    Tandem inversion duplication within F8 Intron 1 associated with mild haemophilia A.
    Lannoy, Nathalie[UCL] Bandelier, Claude[UCL] Grisart, Bernard Reginster, Michel Ronge-Collard, Elisabeth Vikkula, Miikka[UCL] Hermans, Cédric[UCL] (2015) Haemophilia — Vol. 21, no. 4, p. 516-522 (2015)
    • Journal article
    Five int22h homologous copies at the Xq28 locus identified in intron22 inversion type 3 of the Factor VIII gene.
    Lannoy, Nathalie[UCL] Ravoet, Marie[UCL] Grisart, Bernard Fretigny, Mathilde Vikkula, Miikka[UCL] Hermans, Cédric[UCL] (2016) Thrombosis Research : vascular obstruction, hemorrhage and hemostasis — Vol. 137, no. 1, p. 224-227 (2016)
    • Journal article
    Spectrum of mutations in Gitelman syndrome
    Vargas-Poussou, Rosa Dahan, Karin[UCL] Kahila, Diana Venisse, Annabelle Riveira Munoz, Eva[UCL] Debaix, Huguette[UCL] Grisart, Bernard Bridoux, Franck Unwin, Robert Moulin, Bruno Haymann, Jean-Philippe Vantyghem, Marie-Christine Rigothier, Claire Dussol, Bertrand Godin, Michel Nivet, Hubert Dubourg, Laurence Tack, Ivan Gimenez-Roqueplo, Anne-Paule Houillier, Pascal Blanchard, Anne Devuyst, Olivier[UCL] Jeunemaitre, Xavier (2011) Journal of the American Society of Nephrology — Vol. 22, no. 4, p. 693-703 (2011)
    • Journal article
    Performance and Diagnostic Value of Genome-Wide Noninvasive Prenatal Testing in Multiple Gestations.
    van Riel, Margot Brison, Nathalie Baetens, Machteld Blaumeiser, Bettina Boemer, François Bourlard, Laura Bulk, Saskia De Leener, Anne[UCL] Désir, Julie Devriendt, Koenraad Dheedene, Annelies Duquenne, Armelle Fieremans, Nathalie Fieuw, Annelies Gatot, Jean-Stéphane Grisart, Bernard Janssens, Sandra Khudashvili, Naïri Lannoo, Lore Marichal, Axel Meunier, Colombine Palmeira, Leonor Parijs, Ilse Pichon, Bruno Roets, Ellen Sammels, Eva Smits, Guillaume Suenaert, Marion Sznajer, Yves[UCL] Van den Bogaert, Kris Vancoillie, Leen Vandeputte, Lotte Vantroys, Elise Vermeesch, Joris Robert Janssens, Katrien (2021) Obstetrics and gynecology — Vol. 137, no.6, p. 1102-1108 (2021)
    • Journal article
    Outcome of publicly funded nationwide first-tier noninvasive prenatal screening.
    Van Den Bogaert, Kris Lannoo, Lore Brison, Nathalie Gatinois, Vincent Baetens, Machteld Blaumeiser, Bettina Boemer, François Bourlard, Laura Bours, Vincent De Leener, Anne[UCL] De Rademaeker, Marjan Désir, Julie Dheedene, Annelies Duquenne, Armelle[UCL] Fieremans, Nathalie Fieuw, Annelies Gatot, Jean-Stéphane Grisart, Bernard Janssens, Katrien Janssens, Sandra Lederer, Damien Marichal, Axel Menten, Björn Meunier, Colombine Palmeira, Leonor Pichon, Bruno Sammels, Eva Smits, Guillaume Sznajer, Yves Vantroys, Elise Devriendt, Koenraad Vermeesch, Joris Robert (2021) Genetics in medicine — Vol. 23, no.6, p. 1137-1142 (2021)
    • Journal article
    Trisomy rescue mechanism: the case of concomitant mosaic trisomy 14 and maternal uniparental disomy 14 in a 15-year-old girl.
    Balbeur, Samuel Grisart, Bernard Parmentier, Benoit Sartenaer, Daniel Leonard, Pierre-Emmanuel Ullmann, Urielle Boulanger, Sébastien Leroy, Luc Ngendahayo, Placide Lungu-Silviu, Constantin Lysy, Philippe Maystadt, Isabelle (2016) Clinical case reports — Vol. 4, no.3, p. 265-271 (2016)