Zobrazeno 1 - 10
of 551
pro vyhledávání: '"Louis Mandel"'
Publikováno v:
JAAD Case Reports, Vol 4, Iss 2, Pp 138-139 (2018)
Externí odkaz:
https://doaj.org/article/49f9e24f58e34c85bbf9a4c7207316b3
Autor:
Pauline Burger, Valentin Ruault, David Genevieve, Elana Forbes, Lottie Morison, Angela Morgan, Jean-Louis Mandel
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101739- (2024)
Externí odkaz:
https://doaj.org/article/9ee8c3da06514ec0b05659151936b725
Autor:
Elsa Leitão, Christopher Schröder, Ilaria Parenti, Carine Dalle, Agnès Rastetter, Theresa Kühnel, Alma Kuechler, Sabine Kaya, Bénédicte Gérard, Elise Schaefer, Caroline Nava, Nathalie Drouot, Camille Engel, Juliette Piard, Bénédicte Duban-Bedu, Laurent Villard, Alexander P. A. Stegmann, Els K. Vanhoutte, Job A. J. Verdonschot, Frank J. Kaiser, Frédéric Tran Mau-Them, Marcello Scala, Pasquale Striano, Suzanna G. M. Frints, Emanuela Argilli, Elliott H. Sherr, Fikret Elder, Julien Buratti, Boris Keren, Cyril Mignot, Delphine Héron, Jean-Louis Mandel, Jozef Gecz, Vera M. Kalscheuer, Bernhard Horsthemke, Amélie Piton, Christel Depienne
Publikováno v:
Nature Communications, Vol 13, Iss 1, Pp 1-17 (2022)
Discovering disease genes on the X chromosome can be particularly challenging. Here, the authors use features of known disease genes and machine learning to predict genes that remain to be associated with disorders on this chromosome.
Externí odkaz:
https://doaj.org/article/bbc1baaa0cad458284efc798bb89f556
Autor:
Romain Coutelle, Morgane Boedec, Karlijn Vermeulen, Joost Kummeling, David A. Koolen, Tjitske Kleefstra, Camille Fournier, Florent Colin, Axelle Strehle, David Geneviève, Pauline Burger, Jean-Louis Mandel
Publikováno v:
BMC Psychiatry, Vol 22, Iss 1, Pp 1-12 (2022)
Abstract Background Previous publications suggested that lockdown is likely to impact daily living issues of individuals with intellectual disabilities. The authors notably suspected an intensification of behavioural, eating and sleep problems. Metho
Externí odkaz:
https://doaj.org/article/e16a7a55253b4726b1cf9e5f8d0408af
AAV‐delivered diacylglycerol kinase DGKk achieves long‐term rescue of fragile X syndrome mouse model
Autor:
Karima Habbas, Oktay Cakil, Boglárka Zámbó, Ricardos Tabet, Fabrice Riet, Doulaye Dembele, Jean‐Louis Mandel, Michaël Hocquemiller, Ralph Laufer, Françoise Piguet, Hervé Moine
Publikováno v:
EMBO Molecular Medicine, Vol 14, Iss 5, Pp 1-15 (2022)
Abstract Fragile X syndrome (FXS) is the most frequent form of familial intellectual disability. FXS results from the lack of the RNA‐binding protein FMRP and is associated with the deregulation of signaling pathways downstream of mGluRI receptors
Externí odkaz:
https://doaj.org/article/f6fe6fea1bab4023b24b4f87b67b8131
Autor:
Pauline Burger, Florent Colin, Axelle Strehle, Timothée Mazzucotelli, Nicole Collot, Ariane Bouman, Daphna Landau Prat, David Geneviève, Valentin Ruault, Roseline Caumes, Thomas Smol, Jamal Ghoumid, Joost Kummeling, Charlotte Ockeloen, Tjitske Kleefstra, Pierre Parrend, Amélie Piton, David Koolen, Jean-Louis Mandel
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100699- (2023)
Externí odkaz:
https://doaj.org/article/4b842162beb74c9ea0073327de69ce27
Autor:
Florent Colin, Pauline Burger, Timothée Mazzucotelli, Axelle Strehle, Joost Kummeling, Nicole Collot, Elyette Broly, Angela T. Morgan, Kenneth A. Myers, Agnès Bloch-Zupan, Charlotte W. Ockeloen, Bert B.A. de Vries, Tjitske Kleefstra, Pierre Parrend, David A. Koolen, Jean-Louis Mandel
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100817- (2023)
Purpose: GenIDA is an international patient registry for individuals diagnosed with intellectual disability, autism spectrum disorder, and/or epilepsy, which is based on an online questionnaire that is completed by parent caregivers. In this study, t
Externí odkaz:
https://doaj.org/article/993a3f37f3f24bdabf49664b01fbda88
Autor:
Pauline Burger, Florent Colin, Axelle Strehle, Timothée Mazzucotelli, Nicole Collot, Romain Coutelle, Benjamin Durand, Arianne Bouman, Daphna Landau Prat, Tjitske Kleefstra, Pierre Parrend, Amélie Piton, David A. Koolen, Jean-Louis Mandel
Publikováno v:
Journal of Neural Transmission, 130, 459-471
Journal of Neural Transmission, 130, 3, pp. 459-471
Journal of Neural Transmission
Journal of Neural Transmission, 2022, 27, pp.1-13. ⟨10.1007/s00702-022-02569-3⟩
Journal of Neural Transmission, 130, 3, pp. 459-471
Journal of Neural Transmission
Journal of Neural Transmission, 2022, 27, pp.1-13. ⟨10.1007/s00702-022-02569-3⟩
Item does not contain fulltext Intellectual disability with or without manifestations of autism and/or epilepsy affects 1-2% of the population, and it is estimated that more than 30-50% of these cases have a single genetic cause. More than 1000 genes
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::540c13f96da41f92f6109aff90bcaa97
https://doi.org/10.1007/s00702-022-02569-3
https://doi.org/10.1007/s00702-022-02569-3
Autor:
Benjamin Durand, Elise Schaefer, Pauline Burger, Sarah Baer, Carmen Schroder, Jean‐Louis Mandel, Amélie Piton, Romain Coutelle
Publikováno v:
Clinical Genetics. 102:296-304
DYRK1A and Wiedemann-Steiner syndromes (WSS) are two genetic conditions associated with neurodevelopmental disorders (NDDs). Although their clinical phenotype has been described, their behavioral phenotype has not systematically been studied using st
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d3606e065b81efcebfcdaf598f807328
https://doi.org/10.1111/cge.14190
https://doi.org/10.1111/cge.14190
Autor:
David Geneviève, Valentin Ruault, Pauline Burger, Johanna Gradels-Hauguel, Nathalie Ruiz-Pallares, Xtraordinaire Association, Rami Abou Jamra, Alexandra Afenjar, Yves Alembik, Jean-Luc Alessandri, Arpin Stéphanie, Giulia Barcia, Šárka Bendová, Ange-Line Bruel, Perrine Charles, Nicolas Chatron, Maya Chopra, Solène Conrad, Valérie Cormier-Daire, Auriane Cospain, Christine Coubes, Juliette Coursimault, Andrée Delahaye-Duriez, Martine Doco-Fenzy, William Dufour, Benjamin Durand, Camille ENGEL, Laurence Faivre, Fanny Ferroul, Mélanie FRADIN, Hélène Frenkiel, Carlo Fusco, Livia Garavelli, Aurore Garde, Bénédicte Gérard, David Germanaud, Louise Goujon, Aurélie Gouronc, Emmanuelle Ginglinger, Alice Goldenberg, Miroslava Hancarova, Delphine Héron, Bertrand Isidor, Nolwenn Jean Marçais, Boris Keren, Margarete Koch-Hogrebe, Paul Kuentz, Victoria Lamure, Anne-Sophie Lebre, François Lecoquierre, Natacha Lehman, Gaetan Lesca, Stanislas Lyonnet, Delphine Martin, Cyril Mignot, Teresa Neuhann, Gaël Nicolas, Mathilde Nizon, Florence Petit, Christophe Philippe, Amélie Piton, Marzia Pollazzon, Darina Prchalova, Audrey Putoux, Marlène RIO, Sophie Rondeau, Massimiliano Rossi, Quentin Sabbagh, Pascale Saugier-Veber, Ariane Schmetz, Julie Steffann, Christel Thauvin-Robinet, Annick Toutain, Frédéric Tran-Mau-Them, Gabriele Trimarchi, Marie Vincent, Marketa Vlckova, Dagmar Wieczorek, Marjolaine Willems, kevin yauy, Michaela Zelinová, Alban Ziegler, Boris Chaumette, Bekim Sadikovic, Jean-Louis Mandel
We report two series of individuals with DDX3X variations, one (48 individuals) from physicians and one (44 individuals) from caregivers. These two series include several symptoms in common, with fairly similar distribution, which suggests that careg
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::51bda5fc9b2ce8d9658317152dd59e70
https://doi.org/10.21203/rs.3.rs-2760508/v1
https://doi.org/10.21203/rs.3.rs-2760508/v1
