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Displaying 7 results.
    • Journal article
    STAG1 mutations cause a novel cohesinopathy characterised by unspecific syndromic intellectual disability
    Lehalle, Daphné Mosca-Boidron, Anne-Laure Begtrup, Amber Boute-Benejean, Odile Charles, Perrine Cho, Megan T Clarkson, Amanda Devinsky, Orrin Duffourd, Yannis Duplomb-Jego, Laurence Gérard, Bénédicte Jacquette, Aurélia Kuentz, Paul Masurel-Paulet, Alice McDougall, Carey Moutton, Sébastien Olivié, Hilde Park, Soo-Mi Rauch, Anita Revencu, Nicole[UCL] Rivière, Jean-Baptiste Rubin, Karol Simonic, Ingrid Shears, Deborah J Smol, Thomas Taylor Tavares, Ana Lisa Terhal, Paulien Thevenon, Julien Van Gassen, Koen Vincent-Delorme, Catherine Willemsen, Marjolein H Wilson, Golder N Zackai, Elaine Zweier, Christiane Callier, Patrick Thauvin-Robinet, Christel Faivre, Laurence (2017) Journal of Medical Genetics — Vol. 54, no.7, p. 479-488 (2017)
    • Journal article
    Autosomal recessive primary microcephaly due to ASPM mutations: An update
    Létard, Pascaline Drunat, Séverine Vial, Yoann Duerinckx, Sarah Ernault, Anais Amram, Daniel Arpin, Stéphanie Bertoli, Marta Busa, Tiffany Ceulemans, Berten Desir, Julie Doco-Fenzy, Martine Elalaoui, Siham Chafai Devriendt, Koenraad Faivre, Laurence Francannet, Christine Geneviève, David Gérard, Marion Gitiaux, Cyril Julia, Sophie Lebon, Sébastien Lubala, Toni Mathieu-Dramard, Michèle Maurey, Hélène Metreau, Julia Nasserereddine, Sanaa Nizon, Mathilde Pierquin, Geneviève Pouvreau, Nathalie Rivier-Ringenbach, Clothilde Rossi, Massimiliano Schaefer, Elise Sefiani, Abdelaziz Sigaudy, Sabine Sznajer, Yves[UCL] Tunca, Yusuf Guilmin Crepon, Sophie Alberti, Corinne Elmaleh-Bergès, Monique Benzacken, Brigitte Wollnick, Bernd Woods, C. Geoffrey Rauch, Anita Abramowicz, Marc El Ghouzzi, Vincent Gressens, Pierre Verloes, Alain Passemard, Sandrine (2018) Human Mutation — Vol. 39, no. 3, p. 319-332 (2018)
    • Journal article
    Nephrocalcinosis (enamel renal syndrome) caused by autosomal recessive FAM20A mutations.
    Jaureguiberry, Graciana De la Dure-Molla, Muriel Parry, David Quentric, Mickael Himmerkus, Nina Koike, Toshiyasu Poulter, James Klootwijk, Enriko Robinette, Steven L Howie, Alexander J Patel, Vaksha Figueres, Marie-Lucile Stanescu, Horia C Issler, Naomi Nicholson, Jeremy K Bockenhauer, Detlef Laing, Christopher Walsh, Stephen B McCredie, David A Povey, Sue Asselin, Audrey Picard, Arnaud Coulomb, Aurore Medlar, Alan J Bailleul-Forestier, Isabelle Verloes, Alain Le Caignec, Cedric Roussey, Gwenaelle Guiol, Julien Isidor, Bertrand Logan, Clare Shore, Roger Johnson, Colin Inglehearn, Christopher Al-Bahlani, Suhaila Schmittbuhl, Matthieu Clauss, François Huckert, Mathilde Laugel, Virginie Ginglinger, Emmanuelle Pajarola, Sandra Spartà, Giuseppina Bartholdi, Deborah Rauch, Anita Addor, Marie-Claude Yamaguti, Paulo M Safatle, Heloisa P Acevedo, Ana Carolina Martelli-Júnior, Hercílio dos Santos Netos, Pedro E Coletta, Ricardo D Gruessel, Sandra Sandmann, Carolin Ruehmann, Denise Langman, Craig B Scheinman, Steven J Ozdemir-Ozenen, Didem Hart, Thomas C Hart, P Suzanne Neugebauer, Ute Schlatter, Eberhard Houillier, Pascal Gahl, William A Vikkula, Miikka Bloch-Zupan, Agnès Bleich, Markus Kitagawa, Hiroshi Unwin, Robert J Mighell, Alan Berdal, Ariane Kleta, Robert (2012) Nephron. Physiology — Vol. 122, no.1-2, p. 1-6 (2012)
    • Journal article
    Mutations in the pericentrin (PCNT) gene cause primordial dwarfism
    Rauch, Anita Devriendt, Koenraad[UCL] Hennekam, Raoul[UCL] de Zegher, Francis[UCL] (2008) Science — Vol. 319, no. 5864, p. 816-819 (2008)
    • Journal article
    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)
    • Journal article
    Disruption of ST5 is associated with mental-retardation and multiple congenital anomalies.
    Göhring, Ina Tagariello, Andreas Endele, Sabine Stolt, Claus C Ghassibé, Michella[UCL] Fisher, Malcolm Thiel, Christian T. Trautmann, Udo Vikkula, Miikka[UCL] Winterpacht, Andreas FitzPatrick, David R. Rauch, Anita (2009) Journal of medical genetics — Vol. 47, no. 2, p. 91-8 (2010)
    • Journal article
    Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation
    Pasutto, Francesca Sticht, Heinrich Hammersen, Gerhard Gillessen-Kaesbach, Gabriele FitzPatrick, David R. Nuernberg, Gudrun Brasch, Frank Schirmer-Zimmermann, Heidemarie Tolmie, John L. Chitayat, David Houge, Gunnar Fernandez-Martinez, Lorena Keating, Sarah Mortier, Geert Hennekam, Raoul C. M. von der Wense, Axel Slavotinek, Anne Meinecke, Peter Bitoun, Pierre Becker, Christian Nuernberg, Peter Reis, Andre Rauch, Anita (2007) American Journal of Human Genetics — Vol. 80, no. 3, p. 550-560 (2007)