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Aarskog-Scott syndrome: a clinical study based on a large series of 111 male patients with a pathogenic variant in FGD1 and management recommendations Jeanne, Mederic; Ronce, Nathalie; Remize, Solene; Arpin, Stephanie; Baujat, Genevieve; Breton, Sylvain; Petit, Florence; Vanlerberghe, Clemence; Coeslier-Dieux, Anne; Manouvrier-Hanu, Sylvie; Vincent-Delorme, Catherine; Khau Van Kien, Philippe; Van-Gils, Julien; Quelin, Chloe; Pasquier, Laurent; Odent, Sylvie; Demurger, Florence; Laffargue, Fanny; Francannet, Christine; Martin-Coignard, Dominique; Afenjar, Alexandra; Whalen, Sandra; Verloes, Alain; Capri, Yline; Delahaye, Andree; Plaisancie, Julie; Labrune, Philippe; Destree, Anne; Maystadt, Isabelle; Ciorna Monferrato, Viorca; Isidor, Bertrand; Vincent, Marie; Jean Marcais, Nolwen; Nambot, Sophie; Schaefer, Elise; El Chehadeh, Salima; Lespinasse, James; Collignon, Patrick; Busa, Tiffany; Philip, Nicole; Willems, Marjolaine; Planes, Marc; Vanakker, Olivier M.; Lambert, Laetitia; Leheup, Bruno; Mathieu-Dramard, Michele; Morin, Gilles; Dieterich, Klaus; Ginglinger, Emmanuelle; Bayat, Allan; Balasubramanian, Meena; Dauriat, Benjamin; Haye, Damien; Amiel, Jeanne; Rio, Marlene; Cormier-Daire, Valerie; Toutain, Annick 分享 收藏
Neonatal inflammation impairs developmentally-associated microglia and promotes a highly reactive microglial subset Dufour, Adrien; Olya, Ariane Heydari; Foulon, Sophie; Reda, Clemence; Mokhtari, Amazigh; Faivre, Valerie; Hua, Jennifer; Bokobza, Cindy; Griffiths, Andrew D.; Nghe, Philippe; Gressens, Pierre; Delahaye-Duriez, Andree; Van Steenwinckel, Juliette 分享 收藏
C-section and systemic inflammation synergize to disrupt the neonatal gut microbiota and brain development in a model of prematurity Morin, Cecile; Faure, Flora; Mollet, Julie; Guenoun, David; Heydari-Olya, Ariane; Sautet, Irvin; Diao, Sihao; Faivre, Valerie; Pansiot, Julien; Tabet, Lara; Hua, Jennifer; Schwendimann, Leslie; Mokhtari, Amazigh; Martin-Rosique, Rebeca; Chadi, Sead; Laforge, Mireille; Demene, Charlie; Delahaye-Duriez, Andree; Diaz-Heijtz, Rochellys; Fleiss, Bobbi; Matrot, Boris; Auger, Sandrine; Tanter, Mickael; Van Steenwinckel, Juliette; Gressens, Pierre; Bokobza, Cindy 分享 收藏
Monoallelic loss-of-function variants in GSK3B lead to autism and developmental delay Tan, Senwei; Zhang, Qiumeng; Zhan, Rui; Luo, Si; Han, Yaoling; Yu, Bin; Muss, Candace; Pingault, Veronique; Marlin, Sandrine; Delahaye, Andree; Peters, Sophia; Perne, Claudia; Kreiss, Martina; Spataro, Nino; Trujillo-Quintero, Juan Pablo; Racine, Caroline; Tran-Mau-Them, Frederic; Phornphutkul, Chanika; Besterman, Aaron D.; Martinez, Julian; Wang, Xiuxia; Tian, Xiaoyu; Srivastava, Siddharth; Urion, David K.; Madden, Jill A.; Saif, Hind Al; Morrow, Michelle M.; Begtrup, Amber; Li, Xing; Jurgensmeyer, Sarah; Leahy, Peter; Zhou, Shimin; Li, Faxiang; Hu, Zhengmao; Tan, Jieqiong; Xia, Kun; Guo, Hui 分享 收藏
Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes KMT2C的致病变异导致与Kleefstra和Kabuki综合征不同的神经发育障碍 Rots, Dmitrijs; Choufani, Sanaa; Faundes, Victor; Dingemans, Alexander J. M.; Joss, Shelagh; Foulds, Nicola; Jones, Elizabeth A.; Stewart, Sarah; Vasudevan, Pradeep; Dabir, Tabib; Park, Soo-Mi; Jewell, Rosalyn; Brown, Natasha; Pais, Lynn; Jacquemont, Sebastien; Jizi, Khadije; van Ravenswaaij-Arts, Conny M. A.; Kroes, Hester Y.; Stumpel, Constance T. R. M.; Ockeloen, Charlotte W.; Diets, Illja J.; Nizon, Mathilde; Vincent, Marie; Cogne, Benjamin; Besnard, Thomas; Kambouris, Marios; Anderson, Emily; Zackai, Elaine H.; McDougall, Carey; Donoghue, Sarah; O'Donnell-Luria, Anne; Valivullah, Zaheer; O'Leary, Melanie; Srivastava, Siddharth; Byers, Heather; Leslie, Nancy; Mazzola, Sarah; Tiller, George E.; Vera, Moin; Shen, Joseph J.; Boles, Richard; Jain, Vani; Brischoux-Boucher, Elise; Kinning, Esther; Simpson, Brittany N.; Giltay, Jacques C.; Harris, Jacqueline; Keren, Boris; Guimier, Anne; Marijon, Pierre; de Vries, Bert B. A.; Motter, Constance S.; Mendelsohn, Bryce A.; Coffino, Samantha; Gerkes, Erica H.; Afenjar, Alexandra; Visconti, Paola; Bacchelli, Elena; Maestrini, Elena; Delahaye-Duriez, Andree; Gooch, Catherine; Hendriks, Yvonne; Adams, Hieab; Thauvin-Robinet, Christel; Josephi-Taylor, Sarah; Bertoli, Marta; Parker, Michael J.; Rutten, Julie W.; Caluseriu, Oana; Vernon, Hilary J.; Kaziyev, Jonah; Zhu, Jia; Kremen, Jessica; Frazier, Zoe; Osika, Hailey; Breault, David; Nair, Sreelata; Lewis, Suzanne M. E.; Ceroni, Fabiola; Viggiano, Marta; Posar, Annio; Brittain, Helen; Giovanna, Traficante; Giulia, Gori; Quteineh, Lina; Leuchter, Russia Ha-Vinh; Zonneveld-Huijssoon, Evelien; Mellado, Cecilia; Marey, Isabelle; Coudert, Alicia; Alvarez, Mariana Ines Aracena; Kennis, Milou G. P.; Bouman, Arianne; Roifman, Maian; Rodriguez, Maria Inmaculada Amoros; Ortigoza-Escobar, Juan Dario; Vernimmen, Vivian; Sinnema, Margje; Pfundt, Rolph; Brunner, Han G.; Vissers, Lisenka E. L. M.; Kleefstra, Tjitske; Weksberg, Rosanna; Banka, Siddharth 分享 收藏
Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes Rinaldi, Berardo; Bayat, Allan; Zachariassen, Linda G.; Sun, Jia-Hui; Ge, Yu-Han; Zhao, Dan; Bonde, Kristine; Madsen, Laura H.; Awad, Ilham Abdimunim Ali; Bagiran, Duygu; Sbeih, Amal; Shah, Syeda Maidah; El-Sayed, Shaymaa; Lyngby, Signe M.; Pedersen, Miriam G.; Stenum-Berg, Charlotte; Walker, Louise Claudia; Krey, Ilona; Delahaye-Duriez, Andree; Emrick, Lisa T.; Sully, Krystal; Murali, Chaya N.; Burrage, Lindsay C.; Gonzalez, Julie Ana Plaud; Parnes, Mered; Friedman, Jennifer; Isidor, Bertrand; Lefranc, Jeremie; Redon, Sylvia; Heron, Delphine; Mignot, Cyril; Keren, Boris; Fradin, Melanie; Dubourg, Christele; Mercier, Sandra; Besnard, Thomas; Cogne, Benjamin; Deb, Wallid; Rivier, Clotilde; Milani, Donatella; Bedeschi, Maria Francesca; Di Napoli, Claudia; Grilli, Federico; Marchisio, Paola; Koudijs, Suzanna; Veenma, Danielle; Argilli, Emanuela; Lynch, Sally Ann; Au, Ping Yee Billie; Valenzuela, Fernando Eduardo Ayala; Brown, Carolyn; Masser-Frye, Diane; Jones, Marilyn; Romero, Leslie Patron; Li, Wenhui Laura; Thorpe, Erin; Hecher, Laura; Johannsen, Jessika; Denecke, Jonas; McNiven, Vanda; Szuto, Anna; Wakeling, Emma; Cruz, Vincent; Sency, Valerie; Wang, Heng; Piard, Juliette; Kortuem, Fanny; Herget, Theresia; Bierhals, Tatjana; Condell, Angelo; Ben-Zeev, Bruria; Kaur, Simranpreet; Christodoulou, John; Piton, Amelie; Zweier, Christiane; Kraus, Cornelia; Micalizzi, Alessia; Trivisano, Marina; Specchio, Nicola; Lesca, Gaetan; Moller, Rikke S.; Tumer, Zeynep; Musgaard, Maria; Gerard, Benedicte; Lemke, Johannes R.; Shi, Yun Stone; Kristensen, Anders S. 分享 收藏
Accelerated aging in bipolar disorders: An exploratory study of six epigenetic clocks 双相情感障碍的加速衰老: 六个表观遗传时钟的探索性研究 Bourdon, Celine; Etain, Bruno; Spano, Luana; Belzeaux, Raoul; Leboyer, Marion; Delahaye-Duriez, Andree; Ibrahim, El Cherif; Lutz, Pierre-Eric; Gard, Sebastien; Schwan, Raymund; Polosan, Mircea; Courtet, Philippe; Passerieux, Christine; Bellivier, Frank; Marie-Claire, Cynthia 分享 收藏
ADGRL1 haploinsufficiency causes a variable spectrum of neurodevelopmental disorders in humans and alters synaptic activity and behavior in a mouse model Vitobello, Antonio; Mazel, Benoit; Lelianova, Vera G.; Zangrandi, Alice; Petitto, Evelina; Suckling, Jason; Salpietro, Vincenzo; Meyer, Robert; Elbracht, Miriam; Kurth, Ingo; Eggermann, Thomas; Benlaouer, Ouafa; Lall, Gurprit; Tonevitsky, Alexander G.; Scott, Daryl A.; Chan, Katie M.; Rosenfeld, Jill A.; Nambot, Sophie; Safraou, Hana; Bruel, Ange-Line; Denomme-Pichon, Anne-Sophie; Mau-Them, Frederic Tran; Philippe, Christophe; Duffourd, Yannis; Guo, Hui; Petersen, Andrea K.; Granger, Leslie; Crunk, Amy; Bayat, Allan; Striano, Pasquale; Zara, Federico; Scala, Marcello; Thomas, Quentin; Delahaye, Andree; Agathe, Jean-Madeleine De Sainte; Buratti, Julien; Kozlov, Serguei, V; Faivre, Laurence; Thauvin-Robinet, Christel; Ushkaryov, Yuri 分享 收藏
Dysfunction of AMPA receptor GluA3 is associated with aggressive behavior in human AMPA受体GluA3的功能障碍与人类的攻击行为有关 Peng, Shi-Xiao; Pei, Jingwen; Rinaldi, Berardo; Chen, Jiang; Ge, Yu-Han; Jia, Min; Wang, Jun; Delahaye-Duriez, Andree; Sun, Jia-Hui; Zang, Yan-Yu; Shi, Yong-Yun; Zhang, Ning; Gao, Xiang; Milani, Donatella; Xu, Xijia; Sheng, Nengyin; Gerard, Benedicte; Zhang, Chen; Bayat, Allan; Liu, Na; Yang, Jian-Jun; Shi, Yun Stone 分享 收藏
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CDK13-related disorder: Report of a series of 18 previously unpublished individuals and description of an epigenetic signature CDK13-related障碍: 一系列18个以前未发表的个体的报告和表观遗传特征的描述 Rouxel, Flavien; Relator, Raissa; Kerkhof, Jennifer; McConkey, Haley; Levy, Michael; Dias, Patricia; Barat-Houari, Mouna; Bednarek, Nathalie; Boute, Odile; Chatron, Nicolas; Cherik, Florian; Delahaye-Duriez, Andree; Doco-Fenzy, Martine; Faivre, Laurence; Gauthier, Lucas W.; Heron, Delphine; Hildebrand, Michael S.; Lesca, Gaetan; Lespinasse, James; Mazel, Benoit; Menke, Leonie A.; Morgan, Angela T.; Pinson, Lucile; Quelin, Chloe; Rossi, Massimiliano; Ruiz-Pallares, Nathalie; Tran-Mau-Them, Frederic; Van Kessel, Imke N.; Vincent, Marie; Weber, Mathys; Willems, Marjolaine; Leguyader, Gwenael; Sadikovic, Bekim; Genevieve, David 分享 收藏
Impact of Fetal Growth Restriction on the Neonatal Microglial Proteome in the Rat 胎儿生长受限对新生大鼠小胶质细胞蛋白质组的影响 Zinni, Manuela; Pansiot, Julien; Colella, Marina; Faivre, Valerie; Delahaye-Duriez, Andree; Guillonneau, Francois; Bruce, Johanna; Salnot, Virginie; Mairesse, Jerome; Knoop, Marit; Possovre, Marie-Laure; Vaiman, Daniel; Baud, Olivier 分享 收藏
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Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita 未诊断的多发性先天性关节畸形的表型谱和基因组学 Laquerriere, Annie; Jaber, Dana; Abiusi, Emanuela; Maluenda, Jerome; Mejlachowicz, Dan; Vivanti, Alexandre; Dieterich, Klaus; Stoeva, Radka; Quevarec, Loic; Nolent, Flora; Biancalana, Valerie; Latour, Philippe; Sternberg, Damien; Capri, Yline; Verloes, Alain; Bessieres, Bettina; Loeuillet, Laurence; Attie-Bitach, Tania; Martinovic, Jelena; Blesson, Sophie; Petit, Florence; Beneteau, Claire; Whalen, Sandra; Marguet, Florent; Bouligand, Jerome; Heron, Delphine; Viot, Geraldine; Amiel, Jeanne; Amram, Daniel; Bellesme, Celine; Bucourt, Martine; Faivre, Laurence; Jouk, Pierre-Simon; Khung, Suonavy; Sigaudy, Sabine; Delezoide, Anne-Lise; Goldenberg, Alice; Jacquemont, Marie-Line; Lambert, Laetitia; Layet, Valerie; Lyonnet, Stanislas; Munnich, Arnold; Van Maldergem, Lionel; Piard, Juliette; Guimiot, Fabien; Landrieu, Pierre; Letard, Pascaline; Pelluard, Fanny; Perrin, Laurence; Saint-Frison, Marie-Helene; Topaloglu, Haluk; Trestard, Laetitia; Vincent-Delorme, Catherine; Amthor, Helge; Barnerias, Christine; Benachi, Alexandra; Bieth, Eric; Boucher, Elise; Cormier-Daire, Valerie; Delahaye-Duriez, Andree; Desguerre, Isabelle; Eymard, Bruno; Francannet, Christine; Grotto, Sarah; Lacombe, Didier; Laffargue, Fanny; Legendre, Marine; Martin-Coignard, Dominique; Megarbane, Andre; Mercier, Sandra; Nizon, Mathilde; Rigonnot, Luc; Prieur, Fabienne; Quelin, Chloe; Ranjatoelina-Randrianaivo, Hanitra; Resta, Nicoletta; Toutain, Annick; Verhelst, Helene; Vincent, Marie; Colin, Estelle; Fallet-Bianco, Catherine; Granier, Michele; Grigorescu, Romulus; Saada, Julien; Gonzales, Marie; Guiochon-Mantel, Anne; Bessereau, Jean-Louis; Tawk, Marcel; Gut, Ivo; Gitiaux, Cyril; Melki, Judith 分享 收藏
Cell Metabolic Alterations due to Mcph1 Mutation in Microcephaly 小头畸形中Mcph1突变引起的细胞代谢改变 Journiac, Nathalie; Gilabert-Juan, Javier; Cipriani, Sara; Benit, Paule; Liu, Xiaoqian; Jacquier, Sandrine; Faivre, Valerie; Delahaye-Duriez, Andree; Csaba, Zsolt; Hourcade, Tristan; Melinte, Eliza; Lebon, Sophie; Violle-Poirsier, Celine; Oury, Jean-Francois; Adle-Biassette, Homa; Wang, Zhao-Qi; Mani, Shyamala; Rustin, Pierre; Gressens, Pierre; Nardelli, Jeannette 分享 收藏
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