Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Paul Kuentz"'
Integrative approach to interpret DYRK1A variants, leading to a frequent neurodevelopmental disorder
Autor:
Anne-Sophie Denommé, Christine Francannet, Loréline Genschik, Claire Feger, Maria Kibaek, Imene Boujelbene, Paul Kuentz, Michel Guipponi, Marie-Christine Birling, Sébastien Moutton, Allan Bayat, Frederic Tran Mau Them, Mathilde Renaud, Joane Svane, Yann Herault, Sandrine Passemard, Christèle Dubourg, Mélanie Fradin, Marjolaine Willems, Julien Thevenon, Rosanna Weksberg, Bertrand Isidor, David Geneviève, Benjamin Cogné, Magalie Barth, Laurence Faivre, Jérémie Courraud, Boris Keren, Albert David, Laurence Perrin, Anne-Marie Guerrot, Christine Coubes, Thierry Bienvenu, Alice Goldenberg, Bénédicte Gérard, Amélie Piton, Lucas Bronicki, Julia Metreau, Mathilde Nizon, Elise Schaefer, Eric Chater-Diehl, Maria del Mar Muniz Moreno, Bruno Delobel, Katrine M Johannesen, Florence Demurger, Nathalie Drouot, Marie Vincent, Antonio Vitobello, Kristina Pilekær Sørensen, Christina Fagerberg, Cyril Mignot, Estelle Colin, Valérie Layet, Michèle Mathieu-Dramard, Jean-Louis Mandel, Cathrine Elisabeth Tronhjem, Benjamin Durand, Pascale Saugier, Séverine Drunat, Rikke S. Møller, Perrine Charles, Lydie Burglen, Bénédicte Demeer, Salima El Chehadeh, Marc Abramowicz, Laurent Pasquier, Julie D. Thompson
Publikováno v:
HAL
ABBSTRACTDYRK1A-related intellectual disability (ID) is among the most frequent monogenic form of ID. We refined the description of this disorder by reporting clinical and molecular data of forty individuals with ID harboringDYRK1Avariants. We develo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::014f60eee301874a03e7998673eb7515
https://doi.org/10.1101/2021.01.20.21250155
https://doi.org/10.1101/2021.01.20.21250155
Autor:
A. Micheil Innes, Iryna Lobach, Ashley L. Lennox, A. James Barkovich, Caroline Nava, Amy S. Kimball, Sébastien Küry, Julien Thevenon, Benjamin Cogné, Marie Vincent, Debra L. Silver, Bertrand Isidor, Alban Ziegler, Paul Kuentz, Delphine Héron, Kimberly A. Aldinger, Dusica Babovic-Vuksanovic, Elliott H. Sherr, Jens Bunt, Ching Moey, Brieana Fregeau, Lindsey Suit, Diana Rodriguez, Ghayda M. Mirzaa, Patrick R. Blackburn, Noriko Miyake, Cyril Mignot, Brian H.Y. Chung, Alexandra Afenjar, Lot Snijders Blok, Mathilde Nizon, Laurence Faivre, Ruiji Jiang, Nataliya Di Donato, Charles J. Sheehan, Christel Thauvin-Robinet, Boris Keren, Perrine Charles, Bethany L. Johnson-Kerner, Dominique Martin-Coignard, Suzanne DeBrosse, Eric W. Klee, Stéphane Bézieau, Linda J. Richards, Lydie Burglen, Stephen N. Floor, William B. Dobyns
De novo germline mutations in the RNA helicase DDX3X account for 1-3% of unexplained intellectual disability (ID) cases in females, and are associated with autism, brain malformations, and epilepsy. Yet, the developmental and molecular mechanisms by
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::575d8c752d70398fb3fe03f7b2ff7515