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Displaying 11 results.
    • Journal article
    Exclusion of OGDH and BMP4 as candidate genes in two siblings with autosomal recessive DOOR syndrome
    van Bever, Yolande Courtens, Winnie[UCL] Balemans, Wendy Duval, Els L. I. M. Jespers, Ann Eyskens, Francois van Hul, Wim (2007) American Journal of Medical Genetics. Part A — Vol. 143A, no. 7, p. 763-767 (2007)
    • Journal article
    A de novo subtelomeric monosomy 11q (11q24.2-qter) and trisomy 20q (20q13.3-qter) in a girl with findings compatible with Jacobsen syndrome: case report and review.
    Courtens, Winnie[UCL] Wauters, Jan Wojciechowski, Marek Reyniers, Edwin Scheers, Stefan van Luijk, Rob Rooms, Liesbeth Kooy, Frank Wuyts, Wim (2007) Clinical dysmorphology — Vol. 16, no. 4, p. 231-9 (2007)
    • Journal article
    The Belgian MicroArray Prenatal (BEMAPRE) database: A systematic nationwide repository of fetal genomic aberrations.
    Muys, Joke Blaumeiser, Bettina Jacquemyn, Yves Bandelier, Claude[UCL] Brison, Nathalie Bulk, Saskia Chiarappa, Patrizia[UCL] Courtens, Winnie De Leener, Anne[UCL] De Rademaeker, Marjan Désir, Julie Destrée, Anne Devriendt, Koenraad Dheedene, Annelies Fieuw, Annelies Fransen, Erik Gatot, Jean-Stéphane Holmgren, Philip Jamar, Mauricette Janssens, Sandra Keymolen, Kathelijn Lederer, Damien Menten, Björn Meuwissen, Marije Parmentier, Benoit Pichon, Bruno Rombout, Sonia Sznajer, Yves[UCL] Van Den Bogaert, Ann Van Den Bogaert, Kris Vanakker, Olivier Vermeesch, Joris Janssens, Katrien (2018) Prenatal diagnosis — Vol. 38, no.13, p. 1120-1128 (2018)
    • Speech
    A de novo partial duplication of the long arm of chromosome 17 in a newborn with prenatal suspicion of Ellis-van Creveld syndrome
    Courtens, Winnie Lederer, Dimitri[UCL] Gillerot, Y. Debauche, Christian Biard, Jean-Marc Ravoet, Marie[UCL] Sibille, Catherine[UCL] Freund, M. (2007) 6th European Cytogenetics Conference — Istanbul (Turkey)
    • Journal article
    Microduplication 22q11.2: a benign polymorphism or a syndrome with a very large clinical variability and reduced penetrance?--Report of two families.
    Courtens, Winnie[UCL] Schramme, Inge Laridon, Annick (2008) American journal of medical genetics. Part A — Vol. 146A, no. 6, p. 758-63 (2008)
    • Journal article
    Phenotypes and genotypes in non-consanguineous and consanguineous primary microcephaly: High incidence of epilepsy.
    Duerinckx, Sarah Désir, Julie Perazzolo, Camille Badoer, Cindy Jacquemin, Valérie Soblet, Julie Maystadt, Isabelle Tunca, Yusuf Blaumeiser, Bettina Ceulemans, Berten Courtens, Winnie Debray, François-Guillaume Destree, Anne Devriendt, Koenraad Jansen, Anna Keymolen, Kathelijn Lederer, Damien Loeys, Bart Meuwissen, Marije Moortgat, Stéphanie[UCL] Mortier, Geert Nassogne, Marie-Cécile[UCL] Sekhara, Tayeb Van Coster, Rudy Van Den Ende, Jenny Van der Aa, Nathalie Van Esch, Hilde Vanakker, Olivier Verhelst, Helene Vilain, Catheline Weckhuysen, Sarah Passemard, Sandrine Verloes, Alain Aeby, Alec Deconinck, Nicolas Van Bogaert, Patrick Pirson, Isabelle Abramowicz, Marc (2021) Molecular genetics & genomic medicine — Vol. 9, no. 9, p. e1768 [1-19] (2021)
    • Journal article
    Development of a new sensitive ELISA for the determination of uteroglobin-related protein 1, a new potential biomarker
    Van de Velde, Virginie[UCL] Courtens, Winnie[UCL] Bernard, Alfred[UCL] (2011) Biomarkers — Vol. 15, no. 7, p. 619-624 (2010)
    • Speech
    A rare genetic cause of premature ovarian failure: Blepharophimosis-Ptosis-Epicanthus inversus Syndrome type 1
    Brasseur, Benoit Beauloye, Véronique[UCL] Courtens, Winnie[UCL] (2008) —
    • Journal article
    Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a genotype-phenotype correlation
    De Baere, E. Courtens, Winnie[UCL] Devriendt, Koenraad[UCL] (2001) Human Molecular Genetics — Vol. 10, no. 15, p. 1591-1600 (2001)
    • Journal article
    Oculocutaneous Albinism Type IV: A Boy of Moroccan Descent With a Novel Mutation in SLC45A2
    Konno, Takayuki Courtens, Winnie[UCL] Abe, Yuko Kawaguchi, Masakazu Storm, Katrien Biervliet, Martine Kono, Michihiro Tomita, Yasushi Suzuki, Tamio (2009) American Journal of Medical Genetics. Part A — Vol. 149A, no. 8, p. 1773-1776 (2009)
    • Journal article
    FOXL2 Copy Number Changes in the Molecular Pathogenesis of BPES: Unique Cohort of 17 Deletions
    D'haene, B. Courtens, Winnie[UCL] Nevado, J. Pugeat, M. Pierquin, G. Lowry, R. B. Reardon, W. Delicado, A. Garcia-Minaur, S. Palomares, M. Stefanova, M. Wallace, S. Watkins, W. Shelling, A. N. Wieczorek, D. Veitia, R. A. De Paepe, A. Lapunzina, P. De Baere, E. (2010) Human Mutation — Vol. 31, no. 5, p. E1332-+ (2010)