SOX10: 20 years of phenotypic plurality and current understanding of its developmental function

por Pingault, Veronique, Zerad, Lisa, Bertani-Torres, William, Bondurand, Nadege
Publicado 2022

Two induced pluripotent stem cell (iPSC) lines derived from patients affected by Waardenburg syndrome type 1 retain potential to activate neural crest markers

por Alkobtawi, Mansour, Pla, Patrick, Onteniente, Brigitte, Seal, Subham, Pingault, Véronique, Marlin, Sandrine, Monsoro-Burq, Anne H.
Publicado 2023

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

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

Mandibulofacial dysostosis with alopecia results from ET(A)R gain-of-function mutations via allosteric effects on ligand binding

por Kurihara, Yukiko, Ekimoto, Toru, Gordon, Christopher T., Uchijima, Yasunobu, Sugiyama, Ryo, Kitazawa, Taro, Iwase, Akiyasu, Kotani, Risa, Asai, Rieko, Pingault, Véronique, Ikeguchi, Mitsunori, Amiel, Jeanne, Kurihara, Hiroki
Publicado 2023

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

por 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
Publicado 2020

LKB1 specifies neural crest cell fates through pyruvate-alanine cycling

por 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
Publicado 2019

AI-based diagnosis in mandibulofacial dysostosis with microcephaly using external ear shapes

por Hennocq, Quentin, Bongibault, Thomas, Marlin, Sandrine, Amiel, Jeanne, Attie-Bitach, Tania, Baujat, Geneviève, Boutaud, Lucile, Carpentier, Georges, Corre, Pierre, Denoyelle, Françoise, Djate Delbrah, François, Douillet, Maxime, Galliani, Eva, Kamolvisit, Wuttichart, Lyonnet, Stanislas, Milea, Dan, Pingault, Véronique, Porntaveetus, Thantrira, Touzet-Roumazeille, Sandrine, Willems, Marjolaine, Picard, Arnaud, Rio, Marlène, Garcelon, Nicolas, Khonsari, Roman H.
Publicado 2023

Variants in PHF8 cause a spectrum of X-linked neurodevelopmental disorders and facial dysmorphology

por Sobering, Andrew K., Bryant, Laura M., Li, Dong, McGaughran, Julie, Maystadt, Isabelle, Moortgat, Stephanie, Graham, John M., van Haeringen, Arie, Ruivenkamp, Claudia, Cuperus, Roos, Vogt, Julie, Morton, Jenny, Brasch-Andersen, Charlotte, Steenhof, Maria, Hansen, Lars Kjærsgaard, Adler, Élodie, Lyonnet, Stanislas, Pingault, Veronique, Sandrine, Marlin, Ziegler, Alban, Donald, Tyhiesia, Nelson, Beverly, Holt, Brandon, Petryna, Oleksandra, Firth, Helen, McWalter, Kirsty, Zyskind, Jacob, Telegrafi, Aida, Juusola, Jane, Person, Richard, Bamshad, Michael J., Earl, Dawn, Tsai, Anne Chun-Hui, Yearwood, Katherine R., Marco, Elysa, Nowak, Catherine, Douglas, Jessica, Hakonarson, Hakon, Bhoj, Elizabeth J.
Publicado 2022

Variants in PHF8 cause a spectrum of X-linked neurodevelopmental disorders and facial dysmorphology

por Sobering, Andrew K., Bryant, Laura M., Li, Dong, McGaughran, Julie, Maystadt, Isabelle, Moortgat, Stephanie, Graham, John M., van Haeringen, Arie, Ruivenkamp, Claudia, Cuperus, Roos, Vogt, Julie, Morton, Jenny, Brasch-Andersen, Charlotte, Steenhof, Maria, Hansen, Lars Kjærsgaard, Adler, Élodie, Lyonnet, Stanislas, Pingault, Veronique, Sandrine, Marlin, Ziegler, Alban, Donald, Tyhiesia, Nelson, Beverly, Holt, Brandon, Petryna, Oleksandra, Firth, Helen, McWalter, Kirsty, Zyskind, Jacob, Telegrafi, Aida, Juusola, Jane, Person, Richard, Bamshad, Michael J., Earl, Dawn, Chun-Hui Tsai, Anne, Yearwood, Katherine R., Marco, Elysa, Nowak, Catherine, Douglas, Jessica, Hakonarson, Hakon, Bhoj, Elizabeth J.
Publicado 2022