Decreased phenol sulfotransferase activities associated with hyperserotonemia in autism spectrum disorders

by Cécile Pagan, Marion Benabou, Claire Leblond, Freddy Cliquet, Alexandre Mathieu, Nathalie Lemière, Hany Goubran-Botros, Richard Delorme, Marion Leboyer, Jacques Callebert, Thomas Bourgeron, Jean-Marie Launay
Published 2021-01-01

Heterogeneous pattern of selective pressure for PRRT2 in human populations, but no association with autism spectrum disorders.

by Guillaume Huguet, Caroline Nava, Nathalie Lemière, Etienne Patin, Guillaume Laval, Elodie Ey, Alexis Brice, Marion Leboyer, Pierre Szepetowski, Christopher Gillberg, Christel Depienne, Richard Delorme, Thomas Bourgeron
Published 2014-01-01

Disruption of melatonin synthesis is associated with impaired 14-3-3 and miR-451 levels in patients with autism spectrum disorders

by Cécile Pagan, Hany Goubran-Botros, Richard Delorme, Marion Benabou, Nathalie Lemière, Kerren Murray, Frédérique Amsellem, Jacques Callebert, Pauline Chaste, Stéphane Jamain, Fabien Fauchereau, Guillaume Huguet, Erik Maronde, Marion Leboyer, Jean-Marie Launay, Thomas Bourgeron
Published 2017-05-01

Variations of the candidate SEZ6L2 gene on Chromosome 16p11.2 in patients with autism spectrum disorders and in human populations.

by Marina Konyukh, Richard Delorme, Pauline Chaste, Claire Leblond, Nathalie Lemière, Gudrun Nygren, Henrik Anckarsäter, Maria Rastam, Ola Ståhlberg, Frederique Amsellem, I Carina Gillberg, Marie Christine Mouren-Simeoni, Evelyn Herbrecht, Fabien Fauchereau, Roberto Toro, Christopher Gillberg, Marion Leboyer, Thomas Bourgeron
Published 2011-03-01

Identification of pathway-biased and deleterious melatonin receptor mutants in autism spectrum disorders and in the general population.

by Pauline Chaste, Nathalie Clement, Oriane Mercati, Jean-Luc Guillaume, Richard Delorme, Hany Goubran Botros, Cécile Pagan, Samuel Périvier, Isabelle Scheid, Gudrun Nygren, Henrik Anckarsäter, Maria Rastam, Ola Ståhlberg, Carina Gillberg, Emilie Serrano, Nathalie Lemière, Jean Marie Launay, Marie Christine Mouren-Simeoni, Marion Leboyer, Christopher Gillberg, Ralf Jockers, Thomas Bourgeron
Published 2010-07-01

Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: a gradient of severity in cognitive impairments.

by Claire S Leblond, Caroline Nava, Anne Polge, Julie Gauthier, Guillaume Huguet, Serge Lumbroso, Fabienne Giuliano, Coline Stordeur, Christel Depienne, Kevin Mouzat, Dalila Pinto, Jennifer Howe, Nathalie Lemière, Christelle M Durand, Jessica Guibert, Elodie Ey, Roberto Toro, Hugo Peyre, Alexandre Mathieu, Frédérique Amsellem, Maria Rastam, I Carina Gillberg, Gudrun A Rappold, Richard Holt, Anthony P Monaco, Elena Maestrini, Pilar Galan, Delphine Heron, Aurélia Jacquette, Alexandra Afenjar, Agnès Rastetter, Alexis Brice, Françoise Devillard, Brigitte Assouline, Fanny Laffargue, James Lespinasse, Jean Chiesa, François Rivier, Dominique Bonneau, Beatrice Regnault, Diana Zelenika, Marc Delepine, Mark Lathrop, Damien Sanlaville, Caroline Schluth-Bolard, Patrick Edery, Laurence Perrin, Anne Claude Tabet, Michael J Schmeisser, Tobias M Boeckers, Mary Coleman, Daisuke Sato, Peter Szatmari, Stephen W Scherer, Guy A Rouleau, Catalina Betancur, Marion Leboyer, Christopher Gillberg, Richard Delorme, Thomas Bourgeron
Published 2014-09-01

Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders.

by Claire S Leblond, Jutta Heinrich, Richard Delorme, Christian Proepper, Catalina Betancur, Guillaume Huguet, Marina Konyukh, Pauline Chaste, Elodie Ey, Maria Rastam, Henrik Anckarsäter, Gudrun Nygren, I Carina Gillberg, Jonas Melke, Roberto Toro, Beatrice Regnault, Fabien Fauchereau, Oriane Mercati, Nathalie Lemière, David Skuse, Martin Poot, Richard Holt, Anthony P Monaco, Irma Järvelä, Katri Kantojärvi, Raija Vanhala, Sarah Curran, David A Collier, Patrick Bolton, Andreas Chiocchetti, Sabine M Klauck, Fritz Poustka, Christine M Freitag, Regina Waltes, Marnie Kopp, Eftichia Duketis, Elena Bacchelli, Fiorella Minopoli, Liliana Ruta, Agatino Battaglia, Luigi Mazzone, Elena Maestrini, Ana F Sequeira, Barbara Oliveira, Astrid Vicente, Guiomar Oliveira, Dalila Pinto, Stephen W Scherer, Diana Zelenika, Marc Delepine, Mark Lathrop, Dominique Bonneau, Vincent Guinchat, Françoise Devillard, Brigitte Assouline, Marie-Christine Mouren, Marion Leboyer, Christopher Gillberg, Tobias M Boeckers, Thomas Bourgeron
Published 2012-02-01