Foetal onset of EIF2B related disorder in two siblings: cerebellar hypoplasia with absent Bergmann glia and severe hypomyelination

著者: Trimouille, Aurélien, Marguet, Florent, Sauvestre, Fanny, Lasseaux, Eulalie, Pelluard, Fanny, Martin-Négrier, Marie-Laure, Plaisant, Claudio, Rooryck, Caroline, Lacombe, Didier, Arveiler, Benoît, Boespflug-Tanguy, Odile, Naudion, Sophie, Laquerrière, Annie
出版年 Acta Neuropathol Commun (2020)

CHARGE syndrome: a recurrent hotspot of mutations in CHD7 IVS25 analyzed by bioinformatic tools and minigene assays

著者: Legendre, Marine, Rodriguez - Ballesteros, Montserrat, Rossi, Massimiliano, Abadie, Véronique, Amiel, Jeanne, Revencu, Nicole, 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
出版年 Eur J Hum Genet (2017)

International Registry of Patients Carrying TGFBR1 or TGFBR2 Mutations: Results of the Montalcino Aortic Consortium

著者: Jondeau, Guillaume, Ropers, Jacques, Regalado, Ellen, Braverman, Alan, Evangelista, Arturo, Teixedo, Guisela, De Backer, Julie, Muiño-Mosquera, Laura, Naudion, Sophie, Zordan, Cecile, Morisaki, Takayuki, Morisaki, Hiroto, Von Kodolitsch, Yskert, Dupuis-Girod, Sophie, Morris, Shaine A., Jeremy, Richmond, Odent, Sylvie, Adès, Leslie C., Bakshi, Madhura, Holman, Katherine, LeMaire, Scott, Milleron, Olivier, Langeois, Maud, Spentchian, Myrtille, Aubart, Melodie, Boileau, Catherine, Pyeritz, Reed, Milewicz, Dianna M.
出版年 Circ Cardiovasc Genet (2016)

Human interleukin-2 receptor β mutations associated with defects in immunity and peripheral tolerance

著者: Zhang, Zinan, Gothe, Florian, Pennamen, Perrine, James, John R., McDonald, David, Mata, Carlos P., Modis, Yorgo, Alazami, Anas M., Acres, Meghan, Haller, Wolfram, Bowen, Claire, Döffinger, Rainer, Sinclair, Jan, Brothers, Shannon, Zhang, Yu, Matthews, Helen F., Naudion, Sophie, Pelluard, Fanny, Alajlan, Huda, Yamazaki, Yasuhiro, Notarangelo, Luigi D., Thaventhiran, James E., Engelhardt, Karin R., Al-Mousa, Hamoud, Hambleton, Sophie, Rooryck, Caroline, Smith, Kenneth G.C., Lenardo, Michael J.
出版年 J Exp Med (2019)

Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU

著者: Depienne, Christel, Nava, Caroline, Keren, Boris, Heide, Solveig, Rastetter, Agnès, Passemard, Sandrine, Chantot-Bastaraud, Sandra, Moutard, Marie-Laure, Agrawal, Pankaj B., VanNoy, Grace, Stoler, Joan M., Amor, David J., Billette de Villemeur, Thierry, Doummar, Diane, Alby, Caroline, Cormier-Daire, Valérie, Garel, Catherine, Marzin, Pauline, Scheidecker, Sophie, de Saint-Martin, Anne, Hirsch, Edouard, Korff, Christian, Bottani, Armand, Faivre, Laurence, Verloes, Alain, Orzechowski, Christine, Burglen, Lydie, Leheup, Bruno, Roume, Joelle, Andrieux, Joris, Sheth, Frenny, Datar, Chaitanya, Parker, Michael J., Pasquier, Laurent, Odent, Sylvie, Naudion, Sophie, Delrue, Marie-Ange, Le Caignec, Cédric, Vincent, Marie, Isidor, Bertrand, Renaldo, Florence, Stewart, Fiona, Toutain, Annick, Koehler, Udo, Häckl, Birgit, von Stülpnagel, Celina, Kluger, Gerhard, Møller, Rikke S., Pal, Deb, Jonson, Tord, Soller, Maria, Verbeek, Nienke E., van Haelst, Mieke M., de Kovel, Carolien, Koeleman, Bobby, Monroe, Glen, van Haaften, Gijs, Attié-Bitach, Tania, Boutaud, Lucile, Héron, Delphine, Mignot, Cyril
出版年 Hum Genet (2017)