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1 |
Material Type: Artigo
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De novo mutations in HCN1 cause early infantile epileptic encephalopathyNava, Caroline ; Dalle, Carine ; Rastetter, Agnès ; Striano, Pasquale ; de Kovel, Carolien G F ; Nabbout, Rima ; Cancès, Claude ; Ville, Dorothée ; Brilstra, Eva H ; Gobbi, Giuseppe ; Raffo, Emmanuel ; Bouteiller, Delphine ; Marie, Yannick ; Trouillard, Oriane ; Robbiano, Angela ; Keren, Boris ; Agher, Dahbia ; Roze, Emmanuel ; Lesage, Suzanne ; Nicolas, Aude ; Brice, Alexis ; Baulac, Michel ; Vogt, Cornelia ; El Hajj, Nady ; Schneider, Eberhard ; Suls, Arvid ; Weckhuysen, Sarah ; Gormley, Padhraig ; Lehesjoki, Anna-Elina ; De Jonghe, Peter ; Helbig, Ingo ; Baulac, Stéphanie ; Zara, Federico ; Koeleman, Bobby P C ; Haaf, Thomas ; LeGuern, Eric ; Depienne, ChristelNature genetics, 2014-06, Vol.46 (6), p.640-645 [Periódico revisado por pares]United States: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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De novo mutations in the GTP/GDP-binding region of RALA, a RAS-like small GTPase, cause intellectual disability and developmental delayHiatt, Susan M ; Neu, Matthew B ; Ramaker, Ryne C ; Hardigan, Andrew A ; Prokop, Jeremy W ; Hancarova, Miroslava ; Prchalova, Darina ; Havlovicova, Marketa ; Prchal, Jan ; Stranecky, Viktor ; Yim, Dwight K C ; Powis, Zöe ; Keren, Boris ; Nava, Caroline ; Mignot, Cyril ; Rio, Marlene ; Revah-Politi, Anya ; Hemati, Parisa ; Stong, Nicholas ; Iglesias, Alejandro D ; Suchy, Sharon F ; Willaert, Rebecca ; Wentzensen, Ingrid M ; Wheeler, Patricia G ; Brick, Lauren ; Kozenko, Mariya ; Hurst, Anna C E ; Wheless, James W ; Lacassie, Yves ; Myers, Richard M ; Barsh, Gregory S ; Sedlacek, Zdenek ; Cooper, Gregory M Copenhaver, Gregory P.PLoS genetics, 2018-11, Vol.14 (11), p.e1007671-e1007671 [Periódico revisado por pares]United States: Public Library of ScienceTexto completo disponível |
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Material Type: Artigo
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A homozygous KAT2B variant modulates the clinical phenotype of ADD3 deficiency in humans and fliesGonçalves, Sara ; Patat, Julie ; Guida, Maria Clara ; Lachaussée, Noelle ; Arrondel, Christelle ; Helmstädter, Martin ; Boyer, Olivia ; Gribouval, Olivier ; Gubler, Marie-Claire ; Mollet, Geraldine ; Rio, Marlène ; Charbit, Marina ; Bole-Feysot, Christine ; Nitschke, Patrick ; Huber, Tobias B ; Wheeler, Patricia G ; Haynes, Devon ; Juusola, Jane ; Billette de Villemeur, Thierry ; Nava, Caroline ; Afenjar, Alexandra ; Keren, Boris ; Bodmer, Rolf ; Antignac, Corinne ; Simons, Matias Bellen, Hugo J.PLoS genetics, 2018-05, Vol.14 (5), p.e1007386-e1007386 [Periódico revisado por pares]United States: Public Library of ScienceTexto completo disponível |
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Material Type: Artigo
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Heterogeneous pattern of selective pressure for PRRT2 in human populations, but no association with autism spectrum disordersHuguet, Guillaume ; Nava, Caroline ; Lemière, Nathalie ; Patin, Etienne ; Laval, Guillaume ; Ey, Elodie ; Brice, Alexis ; Leboyer, Marion ; Szepetowski, Pierre ; Gillberg, Christopher ; Depienne, Christel ; Delorme, Richard ; Bourgeron, Thomas Toft, MathiasPloS one, 2014-03, Vol.9 (3), p.e88600-e88600 [Periódico revisado por pares]United States: Public Library of ScienceTexto completo disponível |
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Material Type: Artigo
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Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: a gradient of severity in cognitive impairmentsLeblond, Claire S ; Nava, Caroline ; Polge, Anne ; Gauthier, Julie ; Huguet, Guillaume ; Lumbroso, Serge ; Giuliano, Fabienne ; Stordeur, Coline ; Depienne, Christel ; Mouzat, Kevin ; Pinto, Dalila ; Howe, Jennifer ; Lemière, Nathalie ; Durand, Christelle M ; Guibert, Jessica ; Ey, Elodie ; Toro, Roberto ; Peyre, Hugo ; Mathieu, Alexandre ; Amsellem, Frédérique ; Rastam, Maria ; Gillberg, I Carina ; Rappold, Gudrun A ; Holt, Richard ; Monaco, Anthony P ; Maestrini, Elena ; Galan, Pilar ; Heron, Delphine ; Jacquette, Aurélia ; Afenjar, Alexandra ; Rastetter, Agnès ; Brice, Alexis ; Devillard, Françoise ; Assouline, Brigitte ; Laffargue, Fanny ; Lespinasse, James ; Chiesa, Jean ; Rivier, François ; Bonneau, Dominique ; Regnault, Beatrice ; Zelenika, Diana ; Delepine, Marc ; Lathrop, Mark ; Sanlaville, Damien ; Schluth-Bolard, Caroline ; Edery, Patrick ; Perrin, Laurence ; Tabet, Anne Claude ; Schmeisser, Michael J ; Boeckers, Tobias M ; Coleman, Mary ; Sato, Daisuke ; Szatmari, Peter ; Scherer, Stephen W ; Rouleau, Guy A ; Betancur, Catalina ; Leboyer, Marion ; Gillberg, Christopher ; Delorme, Richard ; Bourgeron, Thomas Barsh, Gregory S.PLoS genetics, 2014-09, Vol.10 (9), p.e1004580-e1004580 [Periódico revisado por pares]United States: Public Library of ScienceTexto completo disponível |
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Material Type: Artigo
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Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetranceMarsh, Ashley P L ; Heron, Delphine ; Edwards, Timothy J ; Quartier, Angélique ; Galea, Charles ; Nava, Caroline ; Rastetter, Agnès ; Moutard, Marie-Laure ; Anderson, Vicki ; Bitoun, Pierre ; Bunt, Jens ; Faudet, Anne ; Garel, Catherine ; Gillies, Greta ; Gobius, Ilan ; Guegan, Justine ; Heide, Solveig ; Keren, Boris ; Lesne, Fabien ; Lukic, Vesna ; Mandelstam, Simone A ; McGillivray, George ; McIlroy, Alissandra ; Méneret, Aurélie ; Mignot, Cyril ; Morcom, Laura R ; Odent, Sylvie ; Paolino, Annalisa ; Pope, Kate ; Riant, Florence ; Robinson, Gail A ; Spencer-Smith, Megan ; Srour, Myriam ; Stephenson, Sarah E M ; Tankard, Rick ; Trouillard, Oriane ; Welniarz, Quentin ; Wood, Amanda ; Brice, Alexis ; Rouleau, Guy ; Attié-Bitach, Tania ; Delatycki, Martin B ; Mandel, Jean-Louis ; Amor, David J ; Roze, Emmanuel ; Piton, Amélie ; Bahlo, Melanie ; Billette de Villemeur, Thierry ; Sherr, Elliott H ; Leventer, Richard J ; Richards, Linda J ; Lockhart, Paul J ; Depienne, ChristelNature genetics, 2017-04, Vol.49 (4), p.511-514 [Periódico revisado por pares]United States: Nature Publishing GroupTexto completo disponível |
7 |
Material Type: Artigo
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Comprehensive study of 28 individuals with SIN3A-related disorder underscoring the associated mild cognitive and distinctive facial phenotypeBalasubramanian, Meena ; Dingemans, Alexander J M ; Albaba, Shadi ; Richardson, Ruth ; Yates, Thabo M ; Cox, Helen ; Douzgou, Sofia ; Armstrong, Ruth ; Sansbury, Francis H ; Burke, Katherine B ; Fry, Andrew E ; Ragge, Nicola ; Sharif, Saba ; Foster, Alison ; De Sandre-Giovannoli, Annachiara ; Elouej, Sahar ; Vasudevan, Pradeep ; Mansour, Sahar ; Wilson, Kate ; Stewart, Helen ; Heide, Solveig ; Nava, Caroline ; Keren, Boris ; Demirdas, Serwet ; Brooks, Alice S ; Vincent, Marie ; Isidor, Bertrand ; Küry, Sebastien ; Schouten, Meyke ; Leenders, Erika ; Chung, Wendy K ; Haeringen, Arie van ; Scheffner, Thomas ; Debray, Francois-Guillaume ; White, Susan M ; Palafoll, Maria Irene Valenzuela ; Pfundt, Rolph ; Newbury-Ecob, Ruth ; Kleefstra, TjitskeEuropean journal of human genetics : EJHG, 2021-04, Vol.29 (4), p.625-636 [Periódico revisado por pares]England: Nature Publishing GroupTexto completo disponível |
8 |
Material Type: Artigo
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Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disordersNava, Caroline ; Keren, Boris ; Mignot, Cyril ; Rastetter, Agnès ; Chantot-Bastaraud, Sandra ; Faudet, Anne ; Fonteneau, Eric ; Amiet, Claire ; Laurent, Claudine ; Jacquette, Aurélia ; Whalen, Sandra ; Afenjar, Alexandra ; Périsse, Didier ; Doummar, Diane ; Dorison, Nathalie ; Leboyer, Marion ; Siffroi, Jean-Pierre ; Cohen, David ; Brice, Alexis ; Héron, Delphine ; Depienne, ChristelEuropean journal of human genetics : EJHG, 2014-01, Vol.22 (1), p.71-78 [Periódico revisado por pares]England: Nature Publishing GroupTexto completo disponível |
9 |
Material Type: Artigo
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Thermal variability increases the impact of autumnal warming and drives metabolic depression in an overwintering butterflyWilliams, Caroline M ; Marshall, Katie E ; MacMillan, Heath A ; Dzurisin, Jason D K ; Hellmann, Jessica J ; Sinclair, Brent J Navas, Carlos A.PloS one, 2012-03, Vol.7 (3), p.e34470-e34470 [Periódico revisado por pares]United States: Public Library of ScienceTexto completo disponível |
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Material Type: Artigo
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Effect of ischemic compressions versus extracorporeal shockwave therapy on myofascial trigger points: A protocol of a randomized controlled trialNahomi Kuroda, Melissa ; Thomaz de Aquino Nava, Guilherme ; Baldini Prudencio, Caroline ; Affonso Paulo, Daiane ; Peixouto, Isadora ; Yoshi Moroshima, Maiki ; de Almeida Lourenço, Mariana ; Nogueira da Silva, Caroline ; Mércia Pascon Barbosa, Angélica ; Rodrigues Pedroni, Cristiane Valera-Calero, Juan AntonioPloS one, 2023-03, Vol.18 (3), p.e0283337-e0283337 [Periódico revisado por pares]United States: Public Library of ScienceTexto completo disponível |