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Transcriptome Study in Sicilian Patients with Autism Spectrum Disorder 西西里自闭症谱系障碍患者的转录组研究 Salemi, Michele; Schillaci, Francesca A.; Lanza, Giuseppe; Marchese, Giovanna; Salluzzo, Maria Grazia; Cordella, Angela; Caniglia, Salvatore; Bruccheri, Maria Grazia; Truda, Anna; Greco, Donatella; Ferri, Raffaele; Romano, Corrado 分享 收藏
Spliceosome malfunction causes neurodevelopmental disorders with overlapping features 剪接体功能异常导致具有重叠特征的神经发育障碍 Li, Dong; Wang, Qin; Bayat, Allan; Battig, Mark R.; Zhou, Yijing; Bosch, Danielle G. M.; van Haaften, Gijs; Granger, Leslie; Petersen, Andrea K.; Perez-Jurado, Luis A.; Aznar-Lain, Gemma; Aneja, Anushree; Hancarova, Miroslava; Bendova, Sarka; Schwarz, Martin; Pourova, Radka Kremlikova; Sedlacek, Zdenek; Keena, Beth A.; March, Michael E.; Hou, Cuiping; O'Connor, Nora; Bhoj, Elizabeth J.; Harr, Margaret H.; Lemire, Gabrielle; Boycott, Kym M.; Towne, Meghan; Li, Megan; Tarnopolsky, Mark; Brady, Lauren; Parker, Michael J.; Faghfoury, Hanna; Parsley, Lea Kristin; Agolini, Emanuele; Dentici, Maria Lisa; Novelli, Antonio; Wright, Meredith; Palmquist, Rachel; Lai, Khanh; Scala, Marcello; Striano, Pasquale; Iacomino, Michele; Zara, Federico; Cooper, Annina; Maarup, Timothy J.; Byler, Melissa; Lebel, Robert Roger; Balci, Tugce B.; Louie, Raymond; Lyons, Michael; Douglas, Jessica; Nowak, Catherine; Afenjar, Alexandra; Hoyer, Juliane; Keren, Boris; Maas, Saskia M.; Motazacker, Mahdi M.; Martinez-Agosto, Julian A.; Rabani, Ahna M.; McCormick, Elizabeth M.; Falk, Marni J.; Ruggiero, Sarah M.; Helbig, Ingo; Moller, Rikke S.; Tessarollo, Lino; Ardori, Francesco Tomassoni; Palko, Mary Ellen; Hsieh, Tzung-Chien; Krawitz, Peter M.; Ganapathi, Mythily; Gelb, Bruce D.; Jobanputra, Vaidehi; Wilson, Ashley; Greally, John; Jacquemont, Sebastien; Jizi, Khadije; Bruel, Ange-Line; Quelin, Chloe; Misra, Vinod K.; Chick, Erika; Romano, Corrado; Greco, Donatella; Arena, Alessia; Morleo, Manuela; Nigro, Vincenzo; Seyama, Rie; Uchiyama, Yuri; Matsumoto, Naomichi; Taira, Ryoji; Tashiro, Katsuya; Sakai, Yasunari; Yigit, Gokhan; Wollnik, Bernd; Wagner, Michael; Kutsche, Barbara; Hurst, Anna C. E.; Thompson, Michelle L.; Schmidt, Ryan; Randolph, Linda; Spillmann, Rebecca C.; Shashi, Vandana; Higginbotham, Edward J.; Cordeiro, Dawn; Carnevale, Amanda; Costain, Gregory; Khan, Tayyaba; Funalot, Benoit; Mau-Them, Frederic Tran; Moya, Luis Fernandez Garcia; Garcia-Minaur, Sixto; Osmond, Matthew; Chad, Lauren; Quercia, Nada; Carrasco, Diana; Li, Chumei; Sanchez-Valle, Amarilis; Kelley, Meghan; Nizon, Mathilde; Jensson, Brynjar O.; Sulem, Patrick; Stefansson, Kari; Gorokhova, Svetlana; Busa, Tiffany; Rio, Marlene; Habdallah, Hamza Hadj; Lesieur-Sebellin, Marion; Amiel, Jeanne; Pingault, Veronique; Mercier, Sandra; Vincent, Marie; Philippe, Christophe; Fatus-Fauconnier, Clemence; Friend, Kathryn; Halligan, Rebecca K.; Biswas, Sunita; Rosser, Jane; Shoubridge, Cheryl; Corbett, Mark; Barnett, Christopher; Gecz, Jozef; Leppig, Kathleen; Slavotinek, Anne; Marcelis, Carlo; Pfundt, Rolph; de Vries, Bert B. A.; van Slegtenhorst, Marjon A.; Brooks, Alice S.; Cogne, Benjamin; Rambaud, Thomas; Tumer, Zeynep; Zackai, Elaine H.; Akizu, Naiara; Song, Yuanquan; Hakonarson, Hakon 分享 收藏
Assortative mating and parental genetic relatedness contribute to the pathogenicity of variably expressive variants 分类交配和亲本遗传相关性有助于可变表达变体的致病性 Smolen, Corrine; Jensen, Matthew; Dyer, Lisa; Pizzo, Lucilla; Tyryshkina, Anastasia; Banerjee, Deepro; Rohan, Laura; Huber, Emily; Khattabi, Laila El; Prontera, Paolo; Caberg, Jean-Hubert; Dijck, Anke Van; Schwartz, Charles; Faivre, Laurence; Callier, Patrick; Mosca-Boidron, Anne-Laure; Lefebvre, Mathilde; Pope, Kate; Snell, Penny; Lockhart, Paul J.; Castiglia, Lucia; Galesi, Ornella; Avola, Emanuela; Mattina, Teresa; Fichera, Marco; Mandara, Giuseppa Maria Luana; Bruccheri, Maria Grazia; Pichon, Olivier; Caignec, Cedric Le; Stoeva, Radka; Cuinat, Silvestre; Mercier, Sandra; Beneteau, Claire; Blesson, Sophie; Nordsletten, Ashley; Martin-Coignard, Dominique; Sistermans, Erik; Kooy, R. Frank; Amor, David J.; Romano, Corrado; Isidor, Bertrand; Juusola, Jane; Girirajan, Santhosh 分享 收藏
The Mitochondrial tRNASer(UCN) Gene: A Novel m.7484A>G Mutation Associated with Mitochondrial Encephalomyopathy and Literature Review 线粒体tRNASer(UCN) 基因: 一种与线粒体脑肌病相关的新型m.7484A>G突变并文献复习 Borgione, Eugenia; Lo Giudice, Mariangela; Santa Paola, Sandro; Giuliano, Marika; Di Blasi, Francesco Domenico; Di Stefano, Vincenzo; Lupica, Antonino; Brighina, Filippo; Pettinato, Rosa; Romano, Corrado; Scuderi, Carmela 分享 收藏
The Italian registry for patients with Prader-Willi syndrome 意大利prader-willi综合征患者登记处 Salvatore, Marco; Torreri, Paola; Grugni, Graziano; Rocchetti, Adele; Maghnie, Mohamad; Patti, Giuseppa; Crino, Antonino; Elia, Maurizio; Greco, Donatella; Romano, Corrado; Franzese, Adriana; Mozzillo, Enza; Colao, Annamaria; Pugliese, Gabriella; Pagotto, Uberto; Lo Preiato, Valentina; Scarano, Emanuela; Schiavariello, Concetta; Tornese, Gianluca; Fintini, Danilo; Bocchini, Sarah; Osimani, Sara; De Sanctis, Luisa; Sacco, Michele; Rutigliano, Irene; Delvecchio, Maurizio; Faienza, Maria Felicia; Wasniewska, Malgorzata; Corica, Domenico; Stagi, Stefano; Guazzarotti, Laura; Maffei, Pietro; Dassie, Francesca; Taruscio, Domenica 分享 收藏
The effect of laboratory-verified smoking on SARS-CoV-2 infection: results from the Troina sero-epidemiological survey 实验室验证的吸烟对SARS-CoV-2感染的影响: Troina血清流行病学调查的结果 Tomaselli, Venera; Ferrara, Pietro; Cantone, Giulio G.; Romeo, Alba C.; Rust, Sonja; Saitta, Daniela; Caraci, Filippo; Romano, Corrado; Thangaraju, Murugesan; Zuccarello, Pietro; Rose, Jed; Ferrante, Margherita; Belsey, Jonathan; Cibella, Fabio; Caci, Grazia; Ferri, Raffaele; Polosa, Riccardo 分享 收藏
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Recommendations for neonatologists and pediatricians working in first level birthing centers on the first communication of genetic disease and malformation syndrome diagnosis: consensus issued by 6 Italian scientific societies and 4 parents' associations 对在一级分娩中心工作的新生儿和儿科医生的建议，对遗传疾病和畸形综合征的首次交流诊断: 由6个意大利科学学会和4个家长协会发表的共识 Serra, Gregorio; Memo, Luigi; Coscia, Alessandra; Giuffre, Mario; Iuculano, Ambra; Lanna, Mariano; Valentini, Diletta; Contardi, Anna; Filippeschi, Sauro; Frusca, Tiziana; Mosca, Fabio; Ramenghi, Luca A.; Romano, Corrado; Scopinaro, Annalisa; Villani, Alberto; Zampino, Giuseppe; Corsello, Giovanni 分享 收藏
Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders 罕见的HNRNP基因有害突变导致共享神经发育障碍 Gillentine, Madelyn A.; Wang, Tianyun; Hoekzema, Kendra; Rosenfeld, Jill; Liu, Pengfei; Guo, Hui; Kim, Chang N.; De Vries, Bert B. A.; Vissers, Lisenka E. L. M.; Nordenskjold, Magnus; Kvarnung, Malin; Lindstrand, Anna; Nordgren, Ann; Gecz, Jozef; Iascone, Maria; Cereda, Anna; Scatigno, Agnese; Maitz, Silvia; Zanni, Ginevra; Bertini, Enrico; Zweier, Christiane; Schuhmann, Sarah; Wiesener, Antje; Pepper, Micah; Panjwani, Heena; Torti, Erin; Abid, Farida; Anselm, Irina; Srivastava, Siddharth; Atwal, Paldeep; Bacino, Carlos A.; Bhat, Gifty; Cobian, Katherine; Bird, Lynne M.; Friedman, Jennifer; Wright, Meredith S.; Callewaert, Bert; Petit, Florence; Mathieu, Sophie; Afenjar, Alexandra; Christensen, Celenie K.; White, Kerry M.; Elpeleg, Orly; Berger, Itai; Espineli, Edward J.; Fagerberg, Christina; Brasch-Andersen, Charlotte; Hansen, Lars Kjaersgaard; Feyma, Timothy; Hughes, Susan; Thiffault, Isabelle; Sullivan, Bonnie; Yan, Shuang; Keller, Kory; Keren, Boris; Mignot, Cyril; Kooy, Frank; Meuwissen, Marije; Basinger, Alice; Kukolich, Mary; Philips, Meredith; Ortega, Lucia; Drummond-Borg, Margaret; Lauridsen, Mathilde; Sorensen, Kristina; Lehman, Anna; Lopez-Rangel, Elena; Levy, Paul; Lessel, Davor; Lotze, Timothy; Madan-Khetarpal, Suneeta; Sebastian, Jessica; Vento, Jodie; Vats, Divya; Benman, L. Manace; Mckee, Shane; Mirzaa, Ghayda M.; Muss, Candace; Pappas, John; Peeters, Hilde; Romano, Corrado; Elia, Maurizio; Galesi, Ornella; Simon, Marleen E. H.; van Gassen, Koen L. I.; Simpson, Kara; Stratton, Robert; Syed, Sabeen; Thevenon, Julien; Palafoll, Irene Valenzuela; Vitobello, Antonio; Bournez, Marie; Faivre, Laurence; Xia, Kun; Earl, Rachel K.; Nowakowski, Tomasz; Bernier, Raphael A.; Eichler, Evan E. 分享 收藏
mRNA expression profiling of mitochondrial subunits in subjects with Parkinson's disease 帕金森病患者线粒体亚基的mRNA表达谱 Salemi, Michele; Cosentino, Filomena; Lanza, Giuseppe; Cantone, Mariagiovanna; Salluzzo, Maria Grazia; Giurato, Giorgio; Borgione, Eugenia; Marchese, Giovanna; Santa Paola, Sandro; Lanuzza, Bartolo; Romano, Corrado; Ferri, Raffaele 分享 收藏
SOX13 gene downregulation in peripheral blood mononuclear cells of patients with Klinefelter syndrome SOX13基因在Klinefelter综合征患者外周血单个核细胞中的表达下调 Cannarella, Rossella; Salemi, Michele; Condorelli, Rosita A.; Cimino, Laura; Giurato, Giorgio; Marchese, Giovanna; Cordella, Angela; Romano, Corrado; La Vignera, Sandro; Calogero, Aldo E. 分享 收藏
De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides-Baraitser syndrome 聚集在解旋酶域之外的De novo SMARCA2变体导致一种新的可识别的综合征，具有智力障碍和眼睑病，不同于Nicolaides-Baraitser综合征 Cappuccio, Gerarda; Sayou, Camille; Le Tanno, Pauline; Tisserant, Emilie; Bruel, Ange-Line; El Kennani, Sara; Sa, Joaquim; Low, Karen J.; Dias, Cristina; Havlovicova, Marketa; Hancarova, Miroslava; Eichler, Evan E.; Devillard, Francoise; Moutton, Sebastien; Van-Gils, Julien; Dubourg, Christele; Odent, Sylvie; Gerard, Benedicte; Piton, Amelie; Yamamoto, Toshiyuki; Okamoto, Nobuhiko; Firth, Helen; Metcalfe, Kay; Moh, Anna; Chapman, Kimberly A.; Aref-Eshghi, Erfan; Kerkhof, Jennifer; Torella, Annalaura; Nigro, Vincenzo; Perrin, Laurence; Piard, Juliette; Le Guyader, Gwenael; Jouan, Thibaud; Thauvin-Robinet, Christel; Duffourd, Yannis C.; George-Abraham, Jaya K.; Buchanan, Catherine A.; Williams, Denise; Kini, Usha; Wilson, Kate; Sousa, Sergio B.; Hennekam, Raoul C. M.; Sadikovic, Bekim; Thevenon, Julien; Govin, Jerome; Vitobello, Antonio; Brunetti-Pierri, Nicola; Casari, Giorgio; Pinelli, Michele; Musacchia, Francesco; Mutarelli, Margherita; Carrella, Diego; Vitiello, Giuseppina; Capra, Valeria; Parenti, Giancarlo; Leuzzi, Vincenzo; Selicorni, Angelo; Maitz, Silvia; Banfi, Sandro; Zollino, Marcella; Montomoli, Mario; Milani, Donatelli; Romano, Corrado; Tummolo, Albina; De Brasi, Daniele; Coppola, Antonietta; Santoro, Claudia; Peron, Angela; Pantaleoni, Chiara; Castello, Raffaele; D'Arrigo, Stefano 分享 收藏
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders (vol 11, 4932, 2020) 大规模靶向测序确定神经发育障碍的风险基因 (第11卷，4932卷，2020) Wang, Tianyun; Hoekzema, Kendra; Vecchio, Davide; Wu, Huidan; Sulovari, Arvis; Coe, Bradley P.; Gillentine, Madelyn A.; Wilfert, Amy B.; Perez-Jurado, Luis A.; Kvarnung, Malin; Sleyp, Yoeri; Earl, Rachel K.; Rosenfeld, Jill A.; Geisheker, Madeleine R.; Han, Lin; Du, Bing; Barnett, Chris; Thompson, Elizabeth; Shaw, Marie; Carroll, Renee; Friend, Kathryn; Catford, Rachael; Palmer, Elizabeth E.; Zou, Xiaobing; Ou, Jianjun; Li, Honghui; Guo, Hui; Gerdts, Jennifer; Avola, Emanuela; Calabrese, Giuseppe; Elia, Maurizio; Greco, Donatella; Lindstrand, Anna; Nordgren, Ann; Anderlid, Britt-Marie; Vandeweyer, Geert; Van Dijck, Anke; Van der Aa, Nathalie; McKenna, Brooke; Hancarova, Miroslava; Bendova, Sarka; Havlovicova, Marketa; Malerba, Giovanni; Bernardina, Bernardo Dalla; Muglia, Pierandrea; van Haeringen, Arie; Hoffer, Mariette J. V.; Franke, Barbara; Cappuccio, Gerarda; Delatycki, Martin; Lockhart, Paul J.; Manning, Melanie A.; Liu, Pengfei; Scheffer, Ingrid E.; Brunetti-Pierri, Nicola; Rommelse, Nanda; Amaral, David G.; Santen, Gijs W. E.; Trabetti, Elisabetta; Sedlacek, Zdenek; Michaelson, Jacob J.; Pierce, Karen; Courchesne, Eric; Kooy, R. Frank; Nordenskjold, Magnus; Romano, Corrado; Peeters, Hilde; Bernier, Raphael A.; Gecz, Jozef; Xia, Kun; Eichler, Evan E. 分享 收藏
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders 大规模靶向测序鉴定神经发育障碍的风险基因 Wang, Tianyun; Hoekzema, Kendra; Vecchio, Davide; Wu, Huidan; Sulovari, Arvis; Coe, Bradley P.; Gillentine, Madelyn A.; Wilfert, Amy B.; Perez-Jurado, Luis A.; Kvarnung, Malin; Sleyp, Yoeri; Earl, Rachel K.; Rosenfeld, Jill A.; Geisheker, Madeleine R.; Han, Lin; Du, Bing; Barnett, Chris; Thompson, Elizabeth; Shaw, Marie; Carroll, Renee; Friend, Kathryn; Catford, Rachael; Palmer, Elizabeth E.; Zou, Xiaobing; Ou, Jianjun; Li, Honghui; Guo, Hui; Gerdts, Jennifer; Avola, Emanuela; Calabrese, Giuseppe; Elia, Maurizio; Greco, Donatella; Lindstrand, Anna; Nordgren, Ann; Anderlid, Britt-Marie; Vandeweyer, Geert; Van Dijck, Anke; Van der Aa, Nathalie; McKenna, Brooke; Hancarova, Miroslava; Bendova, Sarka; Havlovicova, Marketa; Malerba, Giovanni; Dalla Bernardina, Bernardo; Muglia, Pierandrea; van Haeringen, Arie; Hoffer, Mariette J. V.; Franke, Barbara; Cappuccio, Gerarda; Delatycki, Martin; Lockhart, Paul J.; Manning, Melanie A.; Liu, Pengfei; Scheffer, Ingrid E.; Brunetti-Pierri, Nicola; Rommelse, Nanda; Amaral, David G.; Santen, Gijs W. E.; Trabetti, Elisabetta; Sedlacek, Zdenek; Michaelson, Jacob J.; Pierce, Karen; Courchesne, Eric; Kooy, R. Frank; Nordenskjold, Magnus; Romano, Corrado; Peeters, Hilde; Bernier, Raphael A.; Gecz, Jozef; Xia, Kun; Eichler, Evan E. 分享 收藏
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GENETICS IN MEDICINE