Screening of MITF and SOX10 Regulatory Regions in Waardenburg Syndrome Type 2

nork Baral, Viviane, Chaoui, Asma, Watanabe, Yuli, Goossens, Michel, Attie-Bitach, Tania, Marlin, Sandrine, Pingault, Veronique, Bondurand, Nadege
Argitaratua 2012

MITF mutations associated with pigment deficiency syndromes and melanoma have different effects on protein function

nork Grill, Christine, Bergsteinsdóttir, Kristín, Ögmundsdóttir, Margrét H., Pogenberg, Vivian, Schepsky, Alexander, Wilmanns, Matthias, Pingault, Veronique, Steingrímsson, Eiríkur
Argitaratua 2013

A Novel Mutation in the Endothelin B Receptor Gene in a Moroccan Family with Shah-Waardenburg Syndrome

nork Doubaj, Yassamine, Pingault, Véronique, Elalaoui, Siham C., Ratbi, Ilham, Azouz, Mohamed, Zerhouni, Hicham, Ettayebi, Fouad, Sefiani, Abdelaziz
Argitaratua izan da Mol Syndromol (2015)

Alu-mediated deletion of SOX10 regulatory elements in Waardenburg syndrome type 4

nork Bondurand, Nadége, Fouquet, Virginie, Baral, Viviane, Lecerf, Laure, Loundon, Natalie, Goossens, Michel, Duriez, Benedicte, Labrune, Philippe, Pingault, Veronique
Argitaratua 2012

Mutation of the Sry-related Sox10 gene in Dominant megacolon, a mouse model for human Hirschsprung disease

nork Herbarth, Beate, Pingault, Veronique, Bondurand, Nadege, Kuhlbrodt, Kirsten, Hermans-Borgmeyer, Irm, Puliti, Aldamaria, Lemort, Nicole, Goossens, Michel, Wegner, Michael
Argitaratua 1998

Phenotypic similarities and differences in patients with a p.Met112Ile mutation in SOX10

nork Pingault, Veronique, Pierre-Louis, Laurence, Chaoui, Asma, Verloes, Alain, Sarrazin, Elisabeth, Brandberg, Goran, Bondurand, Nadege, Uldall, Peter, Manouvrier-Hanu, Sylvie
Argitaratua izan da Am J Med Genet A (2014)

ADAR1 mediated regulation of neural crest derived melanocytes and Schwann cell development

nork Gacem, Nadjet, Kavo, Anthula, Zerad, Lisa, Richard, Laurence, Mathis, Stephane, Kapur, Raj P., Parisot, Melanie, Amiel, Jeanne, Dufour, Sylvie, de la Grange, Pierre, Pingault, Veronique, Vallat, Jean Michel, Bondurand, Nadege
Argitaratua izan da Nat Commun (2020)

LKB1 specifies neural crest cell fates through pyruvate-alanine cycling

nork Radu, Anca G., Torch, Sakina, Fauvelle, Florence, Pernet-Gallay, Karin, Lucas, Anthony, Blervaque, Renaud, Delmas, Véronique, Schlattner, Uwe, Lafanechère, Laurence, Hainaut, Pierre, Tricaud, Nicolas, Pingault, Véronique, Bondurand, Nadège, Bardeesy, Nabeel, Larue, Lionel, Thibert, Chantal, Billaud, Marc
Argitaratua izan da Sci Adv (2019)

Deletions at the SOX10 Gene Locus Cause Waardenburg Syndrome Types 2 and 4

nork Bondurand, Nadege , Dastot-Le Moal, Florence , Stanchina, Laure , Collot, Nathalie , Baral, Viviane , Marlin, Sandrine , Attie-Bitach, Tania , Giurgea, Irina , Skopinski, Laurent , Reardon, William , Toutain, Annick , Sarda, Pierre , Echaieb, Anis , Lackmy-Port-Lis, Marilyn , Touraine, Renaud , Amiel, Jeanne , Goossens, Michel , Pingault, Veronique 
Argitaratua 2007

Novel and recurrent non-truncating mutations of the MITF basic domain: genotypic and phenotypic variations in Waardenburg and Tietz syndromes

nork Léger, Sandy, Balguerie, Xavier, Goldenberg, Alice, Drouin-Garraud, Valérie, Cabot, Annick, Amstutz-Montadert, Isabelle, Young, Paul, Joly, Pascal, Bodereau, Virginie, Holder-Espinasse, Muriel, Jamieson, Robyn V, Krause, Amanda, Chen, Hongsheng, Baumann, Clarisse, Nunes, Luis, Dollfus, Hélène, Goossens, Michel, Pingault, Véronique
Argitaratua 2012

Loss-of-Function Mutations in SOX10 Cause Kallmann Syndrome with Deafness

nork Pingault, Veronique, Bodereau, Virginie, Baral, Viviane, Marcos, Severine, Watanabe, Yuli, Chaoui, Asma, Fouveaut, Corinne, Leroy, Chrystel, Vérier-Mine, Odile, Francannet, Christine, Dupin-Deguine, Delphine, Archambeaud, Françoise, Kurtz, François-Joseph, Young, Jacques, Bertherat, Jérôme, Marlin, Sandrine, Goossens, Michel, Hardelin, Jean-Pierre, Dodé, Catherine, Bondurand, Nadege
Argitaratua 2013

Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7

nork Castilla-Vallmanya, Laura, Selmer, Kaja K., Dimartino, Clémantine, Rabionet, Raquel, Blanco-Sánchez, Bernardo, Yang, Sandra, Reijnders, Margot R. F., van Essen, Antonie J., Oufadem, Myriam, Vigeland, Magnus D., Stadheim, Barbro, Houge, Gunnar, Cox, Helen, Kingston, Helen, Clayton-Smith, Jill, Innis, Jeffrey W., Iascone, Maria, Cereda, Anna, Gabbiadini, Sara, Chung, Wendy K., Sanders, Victoria, Charrow, Joel, Bryant, Emily, Millichap, John, Vitobello, Antonio, Thauvin, Christel, Mau-Them, Frederic Tran, Faivre, Laurence, Lesca, Gaetan, Labalme, Audrey, Rougeot, Christelle, Chatron, Nicolas, Sanlaville, Damien, Christensen, Katherine M., Kirby, Amelia, Lewandowski, Raymond, Gannaway, Rachel, Aly, Maha, Lehman, Anna, Clarke, Lorne, Graul-Neumann, Luitgard, Zweier, Christiane, Lessel, Davor, Lozic, Bernarda, Aukrust, Ingvild, Peretz, Ryan, Stratton, Robert, Smol, Thomas, Dieux-Coëslier, Anne, Meira, Joanna, Wohler, Elizabeth, Sobreira, Nara, Beaver, Erin M., Heeley, Jennifer, Briere, Lauren C., High, Frances A., Sweetser, David A., Walker, Melissa A., Keegan, Catherine E., Jayakar, Parul, Shinawi, Marwan, Kerstjens-Frederikse, Wilhelmina S., Earl, Dawn L., Siu, Victoria M., Reesor, Emma, Yao, Tony, Hegele, Robert A., Vaske, Olena M., Rego, Shannon, Shapiro, Kevin A., Wong, Brian, Gambello, Michael J., McDonald, Marie, Karlowicz, Danielle, Colombo, Roberto, Serretti, Alessandro, Pais, Lynn, O’Donnell-Luria, Anne, Wray, Alison, Sadedin, Simon, Chong, Belinda, Tan, Tiong Y., Christodoulou, John, White, Susan M., Slavotinek, Anne, Barbouth, Deborah, Swols, Dayna Morel, Parisot, Mélanie, Bole-Feysot, Christine, Nitschké, Patrick, Pingault, Véronique, Munnich, Arnold, Cho, Megan T., Cormier-Daire, Valérie, Balcells, Susanna, Lyonnet, Stanislas, Grinberg, Daniel, Amiel, Jeanne, Urreizti, Roser, Gordon, Christopher T.
Argitaratua izan da Genet Med (2020)