The mutation spectrum in RECQL4 diseases

Por Siitonen, H Annika, Sotkasiira, Jenni, Biervliet, Martine, Benmansour, Abdelmadjid, Capri, Yline, Cormier-Daire, Valerie, Crandall, Barbara, Hannula-Jouppi, Katariina, Hennekam, Raoul, Herzog, Denise, Keymolen, Kathelijn, Lipsanen-Nyman, Marita, Miny, Peter, Plon, Sharon E, Riedl, Stefan, Sarkar, Ajoy, Vargas, Fernando R, Verloes, Alain, Wang, Lisa L, Kääriäinen, Helena, Kestilä, Marjo
Publicado em 2009

Genetic Defects in TAPT1 Disrupt Ciliogenesis and Cause a Complex Lethal Osteochondrodysplasia

Por Symoens, Sofie, Barnes, Aileen M., Gistelinck, Charlotte, Malfait, Fransiska, Guillemyn, Brecht, Steyaert, Wouter, Syx, Delfien, D’hondt, Sanne, Biervliet, Martine, De Backer, Julie, Witten, Eckhard P., Leikin, Sergey, Makareeva, Elena, Gillessen-Kaesbach, Gabriele, Huysseune, Ann, Vleminckx, Kris, Willaert, Andy, De Paepe, Anne, Marini, Joan C., Coucke, Paul J.
Publicado no Am J Hum Genet (2015)

New ZMPSTE24 (FACE1) mutations in patients affected with restrictive dermopathy or related progeroid syndromes and mutation update

Por 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, 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
Publicado no Eur J Hum Genet (2014)