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Displaying 7 results.
    • Journal article
    Myhre and LAPS syndromes: Clinical and molecular review of 32 patients
    Michot, Caroline Le Goff, Carine Mahaut, Clémentine Afenjar, Alexandra Brooks, Alice S Campeau, Philippe M. Destree, Anne Di Rocco, Maja Donnai, Dian Hennekam, Raoul Heron, Delphine Jacquemont, Sébastien Kannu, Peter Lin, Angela E. Manouvrier-Hanu, Sylvie Mansour, Sahar Marlin, Sandrine McGowan, Ruth Murphy, Helen Raas-Rothschild, Annick Rio, Marlène Simon, Marleen Stolte-Dijkstra, Irene Stone, James R Sznajer, Yves[UCL] Tolmie, John Touraine, Renaud Van Den Ende, Jenneke Van Der Aa, Nathalie Van Essen, Ton Verloes, Alain Munnich, Arnold Cormier-Daire, Valérie (2014) European Journal of Human Genetics — Vol. 22, no. 11, p. 1272-1277 (2014)
    • Speech
    Lésions hypopigmentées en tourbillons et tableau syndromique : n’y a-t-il que l’hypomélanose de Ito ?
    Dekeuleneer, Valérie Deggouj, Naima[UCL] Nassogne, Marie-Cécile[UCL] Sidi, Daniel Cormier-Daire, Valérie Sznajer, Yves[UCL] Tennstedt, Dominique[UCL] (2012) Les Journées Dermatologique de Paris 2012 — (France) Paris
    • Journal article
    New ZMPSTE24 (FACE1) mutations in patients affected with restrictive dermopathy or related progeroid syndromes and mutation update
    Navarro, Claire Laure Esteves-Vieira, Vera Courrier, Sébastien Boyer, Amandine Duong Nguyen, Thuy Huong, Le Thi Thanh Meinke, Peter Schröder, Winnie Cormier-Daire, Valérie Sznajer, Yves[UCL] Amor, David J Lagerstedt, Kristina Biervliet, Martine Van Den Akker, Peter C Cau, Pierre Roll, Patrice Lévy, Nicolas Badens, Catherine Wehnert, Manfred De Sandre-Giovannoli, Annachiara (2014) European Journal of Human Genetics — Vol. 22, no. 8, p. 1002-1011 (2014)
    • Journal article
    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)
    • Journal article
    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)
    • Journal article
    Two Novel Homozygous Mutations in Phosphoglucomutase 3 Leading to Severe Combined Immunodeficiency, Skeletal Dysplasia, and Malformations.
    Fusaro, Mathieu Vincent, Aline Castelle, Martin Rosain, Jérémie Fournier, Benjamin Veiga da Cunha, Maria[UCL] Kentache, Takfarinas[UCL] Serre, Jill Fallet-Bianco, Catherine Delezoide, Anne-Lise Renesme, Laurent Picard, Fanny Morice Lasseaux, Eulalie Aladjidi, Nathalie Seta, Nathalie Cormier-Daire, Valérie Van Schaftingen, Emile[UCL] Neven, Bénédicte Moshous, Despina Blesson, Sophie Picard, Capucine (2021) Journal of clinical immunology — Vol. 41, no. 5, p. 958-966 (2021)
    • Journal article
    Novel RPL13 Variants and Variable Clinical Expressivity in a Human Ribosomopathy With Spondyloepimetaphyseal Dysplasia.
    Costantini, Alice Alm, Jessica J Tonelli, Francesca Valta, Helena Huber, Céline Tran, Anh N Daponte, Valentina Kirova, Nadi Kwon, Yong-Uk Bae, Jung Yun Chung, Woo Yeong Tan, Shengjiang Sznajer, Yves[UCL] Nishimura, Gen Näreoja, Tuomas Warren, Alan J Cormier-Daire, Valérie Kim, Ok-Hwa Forlino, Antonella Cho, Tae-Joon Mäkitie, Outi (2021) Journal of bone and mineral research — Vol. 36, no. 2, p. 283-297 (2021)