Suchergebnisse - "Jacquemont, Sébastien"

Mavoglurant in fragile X syndrome: Results of two randomized, double-blind, placebo-controlled trials von Berry-Kravis, Elizabeth, Des Portes, Vincent, Hagerman, Randi, Jacquemont, Sébastien, Charles, Perrine, Visootsak, Jeannie, Brinkman, Marc, Rerat, Karin, Koumaras, Barbara, Zhu, Liansheng, Barth, Gottfried Maria, Jaecklin, Thomas, Apostol, George, von Raison, Florian

“… Fragile X syndrome (FXS), the most common cause of inherited intellectual disability and autistic spectrum disorder, is typically caused by transcriptional …”
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KCTD13 is a major driver of mirrored neuroanatomical phenotypes of the 16p11.2 copy number variant von Golzio, Christelle, Willer, Jason, Talkowski, Michael E., Oh, Edwin C., Taniguchi, Yu, Jacquemont, Sébastien, Reymond, Alexandre, Sun, Mei, Sawa, Akira, Gusella, James F., Kamiya, Atsushi, Beckmann, Jacques S., Katsanis, Nicholas

“… Overexpression of all 29 human transcripts of a region of the 16p11.2 chromosome in zebrafish embryos identifies KCTD13 as the message inducing the …”
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Drug development for neurodevelopmental disorders: lessons learned from fragile X syndrome von Berry-Kravis, Elizabeth M, Lindemann, Lothar, Jønch, Aia E, Apostol, George, Bear, Mark F, Carpenter, Randall L, Crawley, Jacqueline N, Curie, Aurore, Des Portes, Vincent, Hossain, Farah, Gasparini, Fabrizio, Gomez-Mancilla, Baltazar, Hessl, David, Loth, Eva, Scharf, Sebastian H, Wang, Paul P, Von Raison, Florian, Hagerman, Randi, Spooren, Will, Jacquemont, Sébastien

“… Neurodevelopmental disorders such as fragile X syndrome (FXS) result in lifelong cognitive and behavioural deficits and represent a major public health burden …”
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Multi-level analysis of the gut–brain axis shows autism spectrum disorder-associated molecular and microbial profiles von Morton, James T., Jin, Dong-Min, Mills, Robert H., Shao, Yan, Rahman, Gibraan, McDonald, Daniel, Zhu, Qiyun, Balaban, Metin, Jiang, Yueyu, Cantrell, Kalen, Gonzalez, Antonio, Carmel, Julie, Frankiensztajn, Linoy Mia, Martin-Brevet, Sandra, Berding, Kirsten, Needham, Brittany D., Zurita, María Fernanda, David, Maude, Averina, Olga V., Kovtun, Alexey S., Noto, Antonio, Mussap, Michele, Wang, Mingbang, Frank, Daniel N., Li, Ellen, Zhou, Wenhao, Fanos, Vassilios, Danilenko, Valery N., Wall, Dennis P., Cárdenas, Paúl, Baldeón, Manuel E., Jacquemont, Sébastien, Koren, Omry, Elliott, Evan, Xavier, Ramnik J., Mazmanian, Sarkis K., Knight, Rob, Gilbert, Jack A., Donovan, Sharon M., Lawley, Trevor D., Carpenter, Bob, Bonneau, Richard, Taroncher-Oldenburg, Gaspar

“… Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by heterogeneous cognitive, behavioral and communication impairments. Disruption …”
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Measuring and Estimating the Effect Sizes of Copy Number Variants on General Intelligence in Community-Based Samples von Huguet, Guillaume, Schramm, Catherine, Douard, Elise, Jiang, Lai, Labbe, Aurélie, Tihy, Frédérique, Mathonnet, Géraldine, Nizard, Sonia, Lemyre, Emmanuelle, Mathieu, Alexandre, Poline, Jean-Baptiste, Loth, Eva, Toro, Roberto, Schumann, Gunter, Conrod, Patricia, Pausova, Zdenka, Greenwood, Celia, Paus, Tomas, Bourgeron, Thomas, Jacquemont, Sébastien

“… Copy number variants (CNVs) classified as pathogenic are identified in 10% to 15% of patients referred for neurodevelopmental disorders. However, their effect …”
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Genome-wide analysis of gene dosage in 24,092 individuals estimates that 10,000 genes modulate cognitive ability von Huguet, Guillaume, Schramm, Catherine, Douard, Elise, Tamer, Petra, Main, Antoine, Monin, Pauline, England, Jade, Jizi, Khadije, Renne, Thomas, Poirier, Myriam, Nowak, Sabrina, Martin, Charles-Olivier, Younis, Nadine, Knoth, Inga Sophia, Jean-Louis, Martineau, Saci, Zohra, Auger, Maude, Tihy, Frédérique, Mathonnet, Géraldine, Maftei, Catalina, Léveillé, France, Porteous, David, Davies, Gail, Redmond, Paul, Harris, Sarah E, Hill, W David, Lemyre, Emmanuelle, Schumann, Gunter, Bourgeron, Thomas, Pausova, Zdenka, Paus, Tomas, Karama, Sherif, Lippe, Sarah, Deary, Ian J, Almasy, Laura, Labbe, Aurélie, Glahn, David, Greenwood, Celia M T, Jacquemont, Sébastien

“… Genomic copy number variants (CNVs) are routinely identified and reported back to patients with neuropsychiatric disorders, but their quantitative effects on …”
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Phenotypic effects of genetic variants associated with autism von Rolland, Thomas, Cliquet, Freddy, Anney, Richard J. L., Moreau, Clara, Traut, Nicolas, Mathieu, Alexandre, Huguet, Guillaume, Duan, Jinjie, Warrier, Varun, Portalier, Swan, Dry, Louise, Leblond, Claire S., Douard, Elise, Amsellem, Frédérique, Malesys, Simon, Maruani, Anna, Toro, Roberto, Børglum, Anders D., Grove, Jakob, Baron-Cohen, Simon, Packer, Alan, Chung, Wendy K., Jacquemont, Sébastien, Delorme, Richard, Bourgeron, Thomas

“… While over 100 genes have been associated with autism, little is known about the prevalence of variants affecting them in individuals without a diagnosis of …”
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Copy number variations and cognitive phenotypes in unselected populations von Männik, Katrin, Mägi, Reedik, Macé, Aurélien, Cole, Ben, Guyatt, Anna L, Shihab, Hashem A, Maillard, Anne M, Alavere, Helene, Kolk, Anneli, Reigo, Anu, Mihailov, Evelin, Leitsalu, Liis, Ferreira, Anne-Maud, Nõukas, Margit, Teumer, Alexander, Salvi, Erika, Cusi, Daniele, McGue, Matt, Iacono, William G, Gaunt, Tom R, Beckmann, Jacques S, Jacquemont, Sébastien, Kutalik, Zoltán, Pankratz, Nathan, Timpson, Nicholas, Metspalu, Andres, Reymond, Alexandre

“… The association of copy number variations (CNVs), differing numbers of copies of genetic sequence at locations in the genome, with phenotypes such as …”
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Psychiatric disorders in children with 16p11.2 deletion and duplication von Niarchou, Maria, Chawner, Samuel J. R. A., Doherty, Joanne L., Maillard, Anne M., Jacquemont, Sébastien, Chung, Wendy K., Green-Snyder, LeeAnne, Bernier, Raphael A., Goin-Kochel, Robin P., Hanson, Ellen, Linden, David E. J., Linden, Stefanie C., Raymond, F. Lucy, Skuse, David, Hall, Jeremy, Owen, Michael J., Bree, Marianne B. M. van den

“… Deletion and duplication of 16p11.2 (BP4–BP5) have been associated with an increased risk of intellectual disability and psychiatric disorder. This is the …”
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The challenges of clinical trials in fragile X syndrome von Jacquemont, Sébastien, Berry-Kravis, Elizabeth, Hagerman, Randi, von Raison, Florian, Gasparini, Fabrizio, Apostol, George, Ufer, Mike, Des Portes, Vincent, Gomez-Mancilla, Baltazar

“… Rationale Advances in understanding the underlying mechanisms of conditions such as fragile X syndrome (FXS) and autism spectrum disorders have revealed …”
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Genetic and phenotypic similarity across major psychiatric disorders: a systematic review and quantitative assessment von Bourque, Vincent-Raphael, Poulain, Cécile, Proulx, Catherine, Moreau, Clara A., Joober, Ridha, Forgeot d’Arc, Baudouin, Huguet, Guillaume, Jacquemont, Sébastien

“… There is widespread overlap across major psychiatric disorders, and this is the case at different levels of observations, from genetic variants to brain …”
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Effect Sizes of Deletions and Duplications on Autism Risk Across the Genome von Douard, Elise, Zeribi, Abderrahim, Schramm, Catherine, Tamer, Petra, Loum, Mor Absa, Nowak, Sabrina, Saci, Zohra, Lord, Marie-Pier, Rodríguez-Herreros, Borja, Jean-Louis, Martineau, Moreau, Clara, Loth, Eva, Schumann, Gunter, Pausova, Zdenka, Elsabbagh, Mayada, Almasy, Laura, Glahn, David C, Bourgeron, Thomas, Labbe, Aurélie, Paus, Tomas, Mottron, Laurent, Greenwood, Celia M T, Huguet, Guillaume, Jacquemont, Sébastien

“… Deleterious copy number variants (CNVs) are identified in up to 20% of individuals with autism. However, levels of autism risk conferred by most rare CNVs …”
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Genetic modulation of brain dynamics in neurodevelopmental disorders: the impact of copy number variations on resting-state EEG von Dubois, Adrien E. E., Audet-Duchesne, Elisabeth, Knoth, Inga Sophia, Martin, Charles-Olivier, Jizi, Khadije, Tamer, Petra, Younis, Nadine, Jacquemont, Sébastien, Dumas, Guillaume, Lippé, Sarah

“… Research has shown that many copy number variations (CNVs) increase the risk of neurodevelopmental disorders (e.g., autism, ADHD, schizophrenia). However, …”
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Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome von Le Goff, Carine, Mahaut, Clémentine, Abhyankar, Avinash, Le Goff, Wilfried, Serre, Valérie, Afenjar, Alexandra, Destrée, Anne, di Rocco, Maja, Héron, Delphine, Jacquemont, Sébastien, Marlin, Sandrine, Simon, Marleen, Tolmie, John, Verloes, Alain, Casanova, Jean-Laurent, Munnich, Arnold, Cormier-Daire, Valérie

“… Valérie Cormier-Daire and colleagues report the identification of mutations in SMAD4 that cause Myhre syndrome, a developmental disorder characterized by short …”
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Genes To Mental Health (G2MH): A Framework to Map the Combined Effects of Rare and Common Variants on Dimensions of Cognition and Psychopathology von Jacquemont, Sébastien, Huguet, Guillaume, Klein, Marieke, Chawner, Samuel J R A, Donald, Kirsten A, van den Bree, Marianne B M, Sebat, Jonathan, Ledbetter, David H, Constantino, John N, Earl, Rachel K, McDonald-McGinn, Donna M, van Amelsvoort, Therese, Swillen, Ann, O'Donnell-Luria, Anne H, Glahn, David C, Almasy, Laura, Eichler, Evan E, Scherer, Stephen W, Robinson, Elise, Bassett, Anne S, Martin, Christa Lese, Finucane, Brenda, Vorstman, Jacob A S, Bearden, Carrie E, Gur, Raquel E

“… Rare genomic disorders (RGDs) confer elevated risk for neurodevelopmental psychiatric disorders. In this era of intense genomics discoveries, the landscape of …”
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Using developmental regression to reorganize the clinical importance of autistic atypicalities von Gagnon, David, Zeribi, Abderrahim, Douard, Élise, Courchesne, Valérie, Huguet, Guillaume, Jacquemont, Sébastien, Loum, Mor Absa, Mottron, Laurent

“… Early regression (ER) is often reported in autistic children with a prototypical phenotype and has been proposed as a possible pathognomonic sign present in …”
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Dysregulated ADAM10-Mediated Processing of APP during a Critical Time Window Leads to Synaptic Deficits in Fragile X Syndrome von Pasciuto, Emanuela, Ahmed, Tariq, Wahle, Tina, Gardoni, Fabrizio, D'Andrea, Laura, Pacini, Laura, Jacquemont, Sébastien, Tassone, Flora, Balschun, Detlef, Dotti, Carlos G, Callaerts-Vegh, Zsuzsanna, D'Hooge, Rudi, Müller, Ulrike C, Di Luca, Monica, De Strooper, Bart, Bagni, Claudia

“… The Fragile X mental retardation protein (FMRP) regulates neuronal RNA metabolism, and its absence or mutations leads to the Fragile X syndrome (FXS). The …”
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Bayonet-shaped language development in autism with regression: a retrospective study von Gagnon, David, Zeribi, Abderrahim, Douard, Élise, Courchesne, Valérie, Rodríguez-Herreros, Borja, Huguet, Guillaume, Jacquemont, Sébastien, Loum, Mor Absa, Mottron, Laurent

“… Background Language delay is one of the major referral criteria for an autism evaluation. Once an autism spectrum diagnosis is established, the language …”
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Epigenetic modification of the FMR1 gene in fragile X syndrome is associated with differential response to the mGluR5 antagonist AFQ056 von Jacquemont, Sébastien, Curie, Aurore, des Portes, Vincent, Torrioli, Maria Giulia, Berry-Kravis, Elizabeth, Hagerman, Randi J, Ramos, Feliciano J, Cornish, Kim, He, Yunsheng, Paulding, Charles, Neri, Giovanni, Chen, Fei, Hadjikhani, Nouchine, Martinet, Danielle, Meyer, Joanne, Beckmann, Jacques S, Delange, Karine, Brun, Amandine, Bussy, Gerald, Gasparini, Fabrizio, Hilse, Talita, Floesser, Annette, Branson, Janice, Bilbe, Graeme, Johns, Donald, Gomez-Mancilla, Baltazar

“… Fragile X syndrome (FXS) is an X-linked condition associated with intellectual disability and behavioral problems. It is caused by expansion of a CGG repeat in …”
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Epigenotype-genotype-phenotype correlations in SETD1A and SETD2 chromatin disorders von Lee, Sunwoo, Menzies, Lara, Hay, Eleanor, Ochoa, Eguzkine, Docquier, France, Rodger, Fay, Deshpande, Charu, Foulds, Nicola C, Jacquemont, Sébastien, Jizi, Khadije, Kiep, Henriette, Kraus, Alison, Löhner, Katharina, Morrison, Patrick J, Popp, Bernt, Richardson, Ruth, Haeringen, Arie, Martin, Ezequiel, Toribio, Ana, Li, Fudong, Jones, Wendy D, Sansbury, Francis H, Maher, Eamonn R

“… Germline pathogenic variants in two genes encoding the lysine-specific histone methyltransferase genes SETD1A and SETD2 are associated with neurodevelopmental …”
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