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

Por 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
Publicado no Acta Neuropathol Commun (2020)

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

Por 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
Publicado no Eur J Hum Genet (2017)

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

Por 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.
Publicado no Circ Cardiovasc Genet (2016)

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

Por 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.
Publicado no J Exp Med (2019)

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

Por 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
Publicado no Hum Genet (2017)