Mutations in the HECT domain of NEDD4L lead to AKT/mTOR pathway deregulation and cause periventricular nodular heterotopia

por Broix, Loïc, Jagline, Hélène, Ivanova, Ekaterina, Schmucker, Stéphane, Drouot, Nathalie, Clayton-Smith, Jill, Pagnamenta, Alistair T., Metcalfe, Kay.A., Isidor, Bertrand, Louvier, Ulrike Walther, Poduri, Annapurna, Taylor, Jenny C., Tilly, Peggy, Poirier, Karine, Saillour, Yoann, Lebrun, Nicolas, Stemmelen, Tristan, Rudolf, Gabrielle, Muraca, Giuseppe, Saintpierre, Benjamin, Elmorjani, Adrienne, Moïse, Martin, Weirauch, Nathalie Bednarek, Guerrini, Renzo, Boland, Anne, Olaso, Robert, Masson, Cecile, Tripathy, Ratna, Keays, David, Beldjord, Cherif, Nguyen, Laurent, Godin, Juliette, Kini, Usha, Nischké, Patrick, Deleuze, Jean-François, Bahi-Buisson, Nadia, Sumara, Izabela, Hinckelmann, Maria-Victoria, Chelly, Jamel
Publicado 2016

DNA Polymerase Epsilon Deficiency Causes IMAGe Syndrome with Variable Immunodeficiency

por Logan, Clare V., Murray, Jennie E., Parry, David A., Robertson, Andrea, Bellelli, Roberto, Tarnauskaitė, Žygimantė, Challis, Rachel, Cleal, Louise, Borel, Valerie, Fluteau, Adeline, Santoyo-Lopez, Javier, Aitman, Tim, Barroso, Inês, Basel, Donald, Bicknell, Louise S., Goel, Himanshu, Hu, Hao, Huff, Chad, Hutchison, Michele, Joyce, Caroline, Knox, Rachel, Lacroix, Amy E., Langlois, Sylvie, McCandless, Shawn, McCarrier, Julie, Metcalfe, Kay A., Morrissey, Rose, Murphy, Nuala, Netchine, Irène, O’Connell, Susan M., Olney, Ann Haskins, Paria, Nandina, Rosenfeld, Jill A., Sherlock, Mark, Syverson, Erin, White, Perrin C., Wise, Carol, Yu, Yao, Zacharin, Margaret, Banerjee, Indraneel, Reijns, Martin, Bober, Michael B., Semple, Robert K., Boulton, Simon J., Rios, Jonathan J., Jackson, Andrew P.
Publicado 2018