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Affichage: 7 résultats.
    • Article de périodique
    CHARGE syndrome: a recurrent hotspot of mutations in CHD7 IVS25 analyzed by bioinformatic tools and minigene assays
    Legendre, Marine Rodriguez - Ballesteros, Montserrat Rossi, Massimiliano Abadie, Véronique Amiel, Jeanne Revencu, Nicole[UCL] Blanchet, Patricia Brioude, Frédéric Delrue, Marie-Ange Doubaj, Yassamine Sefiani, Abdelaziz Francannet, Christine Holder-Espinasse, Muriel Jouk, Pierre-Simon Julia, Sophie Melki, Judith Mur, Sébastien Naudion, Sophie Fabre-Teste, Jennifer Busa, Tiffany Stamm, Stephen Lyonnet, Stanislas Attie-Bitach, Tania Kitzis, Alain Gilbert-Dussardier, Brigitte Bilan, Frédéric (2018) European Journal of Human Genetics — Vol. 26, no. 2, p. 287-292 (2018)
    • Article de périodique
    Overgrowth and trisomy 15q26.1-qter including the IGF1 receptor gene: report of two families and review of the literature.
    Faivre, Laurence Gosset, Philippe Cormier-Daire, Valérie Odent, Sylvie Amiel, Jeanne Giurgea, Irina Nassogne, Marie-Cécile[UCL] Pasquier, Laurent Munnich, Arnold Romana, Serge Prieur, Marguerite Vekemans, Michel De Blois, Marie-Christine Turleau, Catherine (2002) European journal of human genetics : EJHG — Vol. 10, no.11, p. 699-706 (2002)
    • Article de périodique
    Facial appearance in persistent hyperinsulinemic hypoglycemia.
    de Lonlay, Pascale Cormier-Daire, Valérie Amiel, Jeanne Touati, Guy Goldenberg, Alice Fournet, Jean-Christophe Brunelle, Francis Nihoul-Fékété, Claire Rahier, Jacques[UCL] Junien, Claudine Robert, Jean-Jacques Saudubray, Jean-Marie (2002) American journal of medical genetics — Vol. 111, no. 2, p. 130-3 (2002)
    • Article de périodique
    IDH2 mutations in patients with D-2-hydroxyglutaric aciduria
    Kranendijk, Martijn Struys, Eduard A Van Schaftingen, Emile[UCL] Gibson, K Michael Kanhai, Warsha A van der Knaap, Marjo S Amiel, Jeanne Buist, Neil R Das, Anibh M de Klerk, Johannis B Feigenbaum, Annette S Grange, Dorothy K Hofstede, Floris C Holme, Elisabeth Kirk, Edwin P Korman, Stanley H Morava, Eva Morris, Andrew Smeitink, Jan Sukhai, Rám N Vallance, Hilary Jakobs, Cornelis Salomons, Gajja S (2010) Science — Vol. 330, no. 6002, p. 336 (2010)
    • Article de périodique
    De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders.
    Reynhout, Sara Jansen, Sandra Haesen, Dorien van Belle, Siska de Munnik, Sonja A Bongers, Ernie M H F Schieving, Jolanda H Marcelis, Carlo Amiel, Jeanne Rio, Marlène Mclaughlin, Heather Ladda, Roger Sell, Susan Kriek, Marjolein Peeters-Scholte, Cacha M P C D Terhal, Paulien A van Gassen, Koen L Verbeek, Nienke Henry, Sonja Scott Schwoerer, Jessica Malik, Saleem Revencu, Nicole[UCL] Ferreira, Carlos R Macnamara, Ellen Braakman, Hilde M H Brimble, Elise Ruzhnikov, Maura R Z Wagner, Matias Harrer, Philip Wieczorek, Dagmar Kuechler, Alma Tziperman, Barak Barel, Ortal de Vries, Bert B A Gordon, Christopher T Janssens, Veerle Vissers, Lisenka E L M (2019) American journal of human genetics — Vol. 104, no. 1, p. 139-156 (2019)
    • Article de périodique
    An unusual cause of fetal hypomobility:congenital central hypoventilation syndrome associated with hirschsprung disease
    de Montpellier d'Annevoie, Sybille[UCL] Sznajer, Yves[UCL] Amiel, Jeanne François, Geneviève[UCL] Nassogne, Marie-Cécile[UCL] Debauche, Christian[UCL] scheers, Isabelle[UCL] (2014) European journal of pediatrics — Vol. 173, no. 12, p. 1607-1609 (2014)
    • Article de périodique
    Further delineation of auriculocondylar syndrome based on 14 novel cases and reassessment of 25 published cases.
    Vegas, Nancy Demir, Zeynep Gordon, Christopher T Breton, Sylvain Romanelli Tavares, Vanessa L Moisset, Hugo Zechi-Ceide, Roseli Kokitsu-Nakata, Nancy M Kido, Yasuhiro Marlin, Sandrine Gherbi Halem, Souad Meerschaut, Ilse Callewaert, Bert Chung, Brian Revencu, Nicole[UCL] Lehalle, Daphné Petit, Florence Propst, Evan J Papsin, Blake C Phillips, John H Jakobsen, Linda Le Tanno, Pauline Thévenon, Julien McGaughran, Julie Gerkes, Erica H Leoni, Chiara Kroisel, Peter Tan, Tiong Y Henderson, Alex Terhal, Paulien Basel-Salmon, Lina Alkindy, Adila White, Susan M Passos-Bueno, Maria R Pingault, Véronique De Pontual, Loïc Amiel, Jeanne (2022) Human mutation — Vol. 43, no.5, p. 582-594 (2022)