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Affichage: 13 résultats.
    • Article de périodique
    Progressive AV-block and anomalous venous return among cardiac anomalies associated with two novel missense mutations in the CSX/NKX2-5 gene.
    Gutierrez-Roelens, Ilse[UCL] Sluysmans, Thierry[UCL] Gewillig, Marc Devriendt, Koen Vikkula, Miikka[UCL] (2002) Human Mutation — Vol. 20, no. 1, p. 75-81 (2002)
    • Article de périodique
    De novo mutations of SETBP1 cause Schinzel-Giedion syndrome
    Hoischen, Alexander Revencu, Nicole[UCL] van Bon, Bregje W. M. Gilissen, Christian Arts, Peer van Lier, Bart Steehouwer, Marloes de Vries, Petra de Reuver, Rick Wieskamp, Nienke Mortier, Geert Devriendt, Koen[UCL] Amorim, Marta Z. Kidd, Alexa Barbosa, Mafalda Turner, Anne Smith, Janine Oley, Christina Henderson, Alex Hayes, Ian M. Thompson, Elizabeth M. Brunner, Han G. de Vries, Bert B. A. Veltman, Joris A. (2010) Nature Genetics — Vol. 42, no. 6, p. 483-485 (2010)
    • Article de périodique
    FOXL2 and BPES: Mutational hotspots, phenotypic variability, and revision of the genotype-phenotype correlation
    De Baere, Elfride Beysen, Diane Oley, Christine Lorenz, Birgit Cocquet, Julie De Sutter, Pascal[UCL] Devriendt, Koen Dixon, Michael Fellous, Marc Fryns, Jean-Pierre Garza, Arturo Jonsrud, Christoffer Koivisto, Pasi A. Krause, Amanda Leroy, Bart P. Meire, Françoise Plomp, Astrid Van Maldergem, Lionel De Paepe, Anne Veitia, Reiner Messiaen, Ludwine (2003) American Journal of Human Genetics — Vol. 72, no. 2, p. 478-487 (2003)
    • Article de périodique
    Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome)
    Zweier, Christiane Peippo, Maarit M. Hoyer, Juliane Sousa, Sergio Bottani, Armand Clayton-Smith, Jill Reardon, William Saraiva, Jorge Cabral, Alexandra Goehring, Ina Devriendt, Koen de Ravel, Thomy Bijlsma, Emilia K. Hennekam, Raoul C. M. Orrico, Alfredo Cohen, Monika Dreweke, Alexander Reis, Andre Nuernberg, Peter Rauch, Anita (2007) American Journal of Human Genetics — Vol. 80, no. 5, p. 994-1001 (2007)
    • Article de périodique
    Tumor Spectrum in Children With Noonan Syndrome and SOS1 or RAF1 Mutations
    Denayer, Ellen[UCL] Devriendt, Koen[UCL] de Ravel, Thomy[UCL] Van Buggenhout, Griet[UCL] Smeets, Eric[UCL] Francois, Inge[UCL] Sznajer, Yves Craen, Margarita Leventopoulos, George Mutesa, Leon Vandecasseye, Willy[UCL] Massa, Guy Kayserili, Hulya Sciot, Raf[UCL] Fryns, Jean-Pierre[UCL] Legius, Eric[UCL] (2010) Genes, Chromosomes & Cancer — Vol. 49, no. 3, p. 242-252 (2010)
    • Article de périodique
    A novel CSX/NKX2-5 mutation causes autosomal-dominant AV block: are atrial fibrillation and syncopes part of the phenotype?
    Gutierrez-Roelens, Ilse[UCL] De Roy, Lucas[UCL] Ovaert, Caroline[UCL] Sluysmans, Thierry[UCL] Devriendt, Koen Brunner, Han G Vikkula, Miikka[UCL] (2006) European Journal of Human Genetics — Vol. 14, no. 12, p. 1313-1316 (2006)
    • Article de périodique
    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)
    • Article de périodique
    Further delineation of the KAT6B molecular and phenotypic spectrum
    Gannon, Tamsin Perveen, Rahat Schlecht, Hélene Ramsden, Simon Anderson, Beverley Kerr, Bronwyn Day, Ruth Banka, Siddharth Suri, Mohnish Berland, Siren Gabbett, Michael Ma, Alan Lyonnet, Stan Cormier-Daire, Valerie Yilmaz, Rüstem Borck, Guntram Wieczorek, Dagmar Anderlid, Britt-Marie Smithson, Sarah Vogt, Julie Moore-Barton, Heather Simsek-Kiper, Pelin Ozlem Maystadt, Isabelle Destrée, Anne Bucher, Jessica Angle, Brad Mohammed, Shehla Wakeling, Emma Price, Sue Singer, Amihood Sznajer, Yves[UCL] Toutain, Annick Haye, Damien Newbury-Ecob, Ruth Fradin, Melanie McGaughran, Julie Tuysuz, Beyhan Tein, Mark Bouman, Katelijne Dabir, Tabib Van den Ende, Jenneke Luk, Ho Ming Pilz, Daniela T Eason, Jacqueline Davies, Sally Reardon, Willie Garavelli, Livia Zuffardi, Orsetta Devriendt, Koen Armstrong, Ruth Johnson, Diana Doco-Fenzy, Martine Bijlsma, Emilia Unger, Sheila Veenstra-Knol, Hermine E Kohlhase, Jürgen Lo, Ivan F M Smith, Janine Clayton-Smith, Jill (2015) European Journal of Human Genetics — Vol. 23, no. 9, p. 1165-1170 (2015)
    • Article de périodique
    Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases
    Verloes, Alain Di Donato, Nataliya Masliah-Planchon, Julien Jongmans, Marjolijn Abdul-Raman, Omar A Albrecht, Beate Allanson, Judith Brunner, Han Bertola, Debora Chassaing, Nicolas David, Albert Devriendt, Koen Eftekhari, Pirayeh Drouin-Garraud, Valérie Faravelli, Francesca Faivre, Laurence Giuliano, Fabienne Guion Almeida, Leina Juncos, Jorge Kempers, Marlies Eker, Hatice Koçak Lacombe, Didier Lin, Angela Mancini, Grazia Melis, Daniela Lourenço, Charles Marques Siu, Victoria Mok Morin, Gilles Nezarati, Marjan Nowaczyk, Malgorzata J M Ramer, Jeanette C Osimani, Sara Philip, Nicole Pierpont, Mary Ella Procaccio, Vincent Roseli, Zeichi-Seide Rossi, Massimiliano Rusu, Cristina Sznajer, Yves[UCL] Templin, Ludivine Uliana, Vera Klaus, Mirjam Van Bon, Bregje Van Ravenswaaij, Conny Wainer, Bruce Fry, Andrew E Rump, Andreas Hoischen, Alexander Drunat, Séverine Rivière, Jean-Baptiste Dobyns, William B Pilz, Daniela T (2015) European Journal of Human Genetics — Vol. 23, no.3, p. 292-301 (2014)
    • Chapitre
    SOX18 and the hypotrichosis-lymphedema-telangiectasia syndrome
    Brouillard, Pascal[UCL] Devriendt, Koen Vikkula, Miikka[UCL] (2016) Epstein's Inborn errors of development. The Molecular Basis of Clinical Disorders of Morphogenesis. — [ISBN : 0199934525]
    • Chapitre
    SOX18 and the hypotrichosis-lymphedema-telangiectasia syndrome
    Ghalamkarpour, Arash[UCL] Devriendt, Koen Vikkula, Miikka[UCL] (2008) Inborn errors of development — [ISBN : 978-0-19-530691-0]
    • Article de périodique
    Autosomal-dominant microtia linked to five tandem copies of a copy-number-variable region at chromosome 4p16.
    Balikova, Irina Martens, Kevin Melotte, Cindy Amyere, Mustapha[UCL] Van Vooren, Steven Moreau, Yves Vetrie, David Fiegler, Heike Carter, Nigel P Liehr, Thomas Vikkula, Miikka[UCL] Matthijs, Gert Fryns, Jean-Pierre Casteels, Ingele Devriendt, Koen Vermeesch, Joris Robert (2008) American journal of human genetics — Vol. 82, no. 1, p. 181-7 (2008)
    • Article de périodique
    No evidence of locus heterogeneity in familial microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndrome.
    Schlögel, Matthieu[UCL] Mendola, Antonella[UCL] Fastre, Elodie[UCL] Vasudevan, Pradeep Devriendt, Koen de Ravel, Thomy Jl Van Esch, Hilde Casteels, Ingele Arroyo Carrera, Ignacio Cristofoli, Francesca Fieggen, Karen Jones, Katheryn Lipson, Mark Balikova, Irina Singer, Ami Soller, Maria Mercedes Villanueva, María Revencu, Nicole[UCL] Boon, Laurence M.[UCL] Brouillard, Pascal[UCL] Vikkula, Miikka[UCL] (2015) Orphanet Journal of Rare Diseases — Vol. 10, no. 1, p. 52 (2015)