Zobrazeno 1 - 10
of 66
pro vyhledávání: '"Cognitive and Behavioural Genetics"'
Autor:
Marta Codina-Solà, Ivon Cuscó, Debora Perez-Garcia, Raquel Flores, Mar Costa-Roger, Luis A. Pérez-Jurado, Maria Gabriela Palacios-Verdú
Publikováno v:
Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
Journal of Medical Genetics
Universitat Autònoma de Barcelona
Journal of Medical Genetics
Funding this work was funded by grants from the Spanish Ministry of economy and competiveness (FiS Pi16/00369 and Pi1302481 cofunded by FeDer, and 'Programa de excelencia María de Maeztu' MDM-2014-0370), and the generalitat de catalunya (2017Srg0197
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c80a52d82018de58879acf68d5597025
https://ddd.uab.cat/record/223850
https://ddd.uab.cat/record/223850
Autor:
Babbs, C, Lloyd, D, Pagnamenta, A, Twigg, SR, Green, J, McGowan, S, Mirza, G, Naples, R, Sharma, V, Volpi, E, Buckle, V, Wall, SA, Knight, S, Parr, JR, Wilkie, A
Publikováno v:
Journal of Medical Genetics
BACKGROUND: Autism spectrum disorders (ASDs) are common and have a strong genetic basis, yet the cause of ∼70-80% ASDs remains unknown. By clinical cytogenetic testing, we identified a family in which two brothers had ASD, mild intellectual disabil
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::8b09a58aa41a2ec791430b9d135b2c40
http://europepmc.org/articles/PMC4215269
http://europepmc.org/articles/PMC4215269
Autor:
Estelle Colin, Christel Thauvin-Robinet, Bernard Jost, Hélène Dollfus, Marie-Ange Delrue, Dominique Bonneau, Marjolaine Willems, Christine Francannet, Claire Feger, Michèle Mathieu-Dramard, Patrick Edery, Martine Doco-Fenzy, Laurence Olivier-Faivre, Véronique Geoffroy, Jean-Louis Mandel, Muriel Philipps, Serge Vicaire, Bérénice Doray, Alice Goldenberg, Magalie Barth, Julien Thevenon, Julia Lauer, Didier Lacombe, Gaetan Lesca, David Geneviève, Angélique Quartier, Dominique Martin-Coignard, Yvan Herenger, Serge Lumbroso, Salima El-Chehadeh, Bénédicte Gérard, Mélanie Fradin, Gilles Morin, Jean Muller, Yves Alembik, Sylvie Sukno, Amélie Piton, Nicolas Haumesser, Claire Redin, Bertrand Isidor, Elisabeth Flori, Valérie Drouin-Garraud, Pierre Sarda, Alice Masurel-Paulet, Michael Dumas, Stéphanie Le Gras, Anne Polge
Publikováno v:
Journal of Medical Genetics
Background Intellectual disability (ID) is characterised by an extreme genetic heterogeneity. Several hundred genes have been associated to monogenic forms of ID, considerably complicating molecular diagnostics. Trio-exome sequencing was recently pro
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::61fac5fb119f1f718294e7ee05ab1450
http://europepmc.org/articles/PMC4215287
http://europepmc.org/articles/PMC4215287
Autor:
Stephanie Greville-Heygate, Susanne Schmidt, Diana Baralle, Eleanor G. Seaby, Anne Debant, Sarah Ennis, M. Reza Jabalameli, Sarju G. Mehta, Reuben J. Pengelly, Christine Fagotto-Kaufmann, Michael J. Parker, David Goudie, Catherine Mercer
Publikováno v:
Journal of Medical Genetics
Journal of Medical Genetics, BMJ Publishing Group, 2016, 53 (11), pp.735--742. ⟨10.1136/jmedgenet-2016-103942⟩
Journal of Medical Genetics, BMJ Publishing Group, 2016, 53 (11), pp.735--742. ⟨10.1136/jmedgenet-2016-103942⟩
Background: Neurodevelopmental disorders have challenged clinical genetics for decades, with over 700 genes implicated and many whose function remains unknown. The application of whole-exome sequencing is proving pivotal in closing the genotype/pheno
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1ccb013cda5f2da0e87a1fe211e6d836
https://hal.archives-ouvertes.fr/hal-01878037
https://hal.archives-ouvertes.fr/hal-01878037
Autor:
Birnbaum, Rivka, Ezer, Shlomit, Lotan, Nava Shaul, Eilat, Avital, Sternlicht, Keren, Benyamini, Lilach, Reish, Orit, Falik-Zaccai, Tzipora, Ben-Gad, Gali, Rod, Raya, Segel, Reeval, Kim, Katherine, Burton, Barabra, Keegan, Catherine E., Wagner, Mallory, Henderson, Lindsay B., Mor, Nofar, Barel, Ortal, Hirsch, Yoel, Meiner, Vardiella
Publikováno v:
Journal of Medical Genetics; Mar2024, Vol. 61 Issue 3, p289-293, 5p
Autor:
Desjardins, Clément, Caux, Frédéric, Degos, Bertrand, Benzohra, Djallel, De Liège, Astrid, Bohelay, Gérôme, Longy, Michel, Béreaux, Chloé, Garcin, Béatrice
Publikováno v:
Journal of Medical Genetics; Jan2023, Vol. 60 Issue 1, p91-98, 8p
Autor:
Schalk, Audrey, Cousin, Margot A., Dsouza, Nikita R., Challman, Thomas D., Wain, Karen E., Powis, Zoe, Minks, Kelly, Trimouille, Aurélien, Lasseaux, Eulalie, Lacombe, Didier, Angelini, Chloé, Michaud, Vincent, Van-Gils, Julien, Spataro, Nino, Ruiz, Anna, Gabau, Elizabeth, Stolerman, Elliot, Washington, Camerun, Louie, Ray, Lanpher, Brendan C.
Publikováno v:
Journal of Medical Genetics; Oct2022, Vol. 59 Issue 10, p965-975, 11p
Autor:
Eungu Kang, Minji Kang, Younghee Ju, Sang-Joon Lee, Yong-Seok Lee, Dong-Cheol Woo, Young Hoon Sung, In-Jeoung Baek, Woo Hyun Shim, Woo-Chan Son, In Hee Choi, Eul-Ju Seo, Han-Wook Yoo, Yong-Mahn Han, Beom Hee Lee
Publikováno v:
Journal of Medical Genetics; Nov2021, Vol. 58 Issue 11, p767-777, 11p
Autor:
Zardetto, Bianca, van Roon-Mom, Willeke, Aartsma-Rus, Annemieke, Lauffer, Marlen C., Andresen, Brage
Publikováno v:
Human Mutation; 5/29/2024, Vol. 2024, p1-17, 17p
Autor:
Morison, Lottie D., Meffert, Elisabeth, Stampfer, Miriam, Steiner-Wilke, Irene, Vollmer, Brigitte, Schulze, Katrin, Briggs, Tracy, Braden, Ruth, Vogel, Adam, Thompson-Lake, Daisy, Patel, Chirag, Blair, Edward, Goel, Himanshu, Turner, Samantha, Moog, Ute, Riess, Angelika, Liegeois, Frederique, Koolen, David A., Amor, David J., Kleefstra, Tjitske
Publikováno v:
Journal of Medical Genetics; Jun2023, Vol. 60 Issue 6, p597-607, 11p