未登录 Clinical Relevance of IFT140 Loss-of-Function Variants in Development of Renal Cysts IFT140失活功能变异体在肾囊肿发展中的临床相关性 Cristalli, Carlotta Pia; Calabrese, Sara; Caramanna, Luca; Pietra, Andrea; Vitetta, Giulia; De Nicolo, Bianca; Bonora, Elena; Severi, Giulia; Menabo, Soara; Ferrari, Simona; Ciurli, Francesca; Aiello, Valeria; Capelli, Irene; Pasini, Andrea; Alberici, Irene; Pillon, Roberto; La Scola, Claudio; Rossi, Cesare; Montanari, Francesca; Graziano, Claudio 分享 收藏
Polygenic and Polyenvironment Interplay in Schizophrenia-Spectrum Disorder and Affective Psychosis; the EUGEI First Episode Study 精神分裂症谱系障碍和情感性精神病中的多基因和多环境相互作用; EUGEI第一集研究 Rodriguez, Victoria; Alameda, Luis; Aas, Monica; Gayer-Anderson, Charlotte; Trotta, Giulia; Spinazzola, Edoardo; Quattrone, Diego; Tripoli, Giada; Jongsma, Hannah E.; Stilo, Simona; La Cascia, Caterina; Ferraro, Laura; La Barbera, Daniele; Lasalvia, Antonio; Tosato, Sarah; Tarricone, Ilaria; Bonora, Elena; Jamain, Stephane; Selten, Jean-Paul; Velthorst, Eva; de Haan, Lieuwe; Llorca, Pierre-Michel; Arrojo, Manuel; Bobes, Julio; Bernardo, Miguel; Arango, Celso; Kirkbride, James; Jones, Peter B.; Rutten, Bart P.; Richards, Alexander; Sham, Pak C.; O'Donovan, Michael; Van Os, Jim; Morgan, Craig; Di Forti, Marta; Murray, Robin M.; Vassos, Evangelos 分享 收藏
The impact of schizophrenia genetic load and heavy cannabis use on the risk of psychotic disorder in the EU-GEI case-control and UK Biobank studies 在eu-gei病例对照和英国Biobank研究中，精神分裂症遗传负荷和大量使用大麻对精神病风险的影响 Austin-Zimmerman, Isabelle; Spinazzola, Edoardo; Quattrone, Diego; Wu-Choi, Beatrice; Trotta, Giulia; Li, Zhikun; Johnson, Emma; Richards, Alexander L.; Freeman, Tom P.; Tripoli, Giada; Gayer-Anderson, Charlotte; Rodriguez, Victoria; Jongsma, Hannah E.; Ferraro, Laura; La Cascia, Caterina; Tosato, Sarah; Tarricone, Ilaria; Berardi, Domenico; Bonora, Elena; Seri, Marco; D'Andrea, Giuseppe; Szoeke, Andrei; Arango, Celso; Bobes, Julio; Sanjuan, Julio; Santos, Jose Luis; Arrojo, Manuel; Velthorst, Eva; Bernardo, Miguel; Del-Ben, Cristina Marta; Rossi Menezes, Paulo; Selten, Jean-Paul; Jones, Peter B.; Kirkbride, James B.; Rutten, Bart P. F.; Tortelli, Andrea; Llorca, Pierre-Michel; de Haan, Lieuwe; Stilo, Simona; La Barbera, Daniele; Lasalvia, Antonio; Schurnhoff, Franck; Pignon, Baptiste; van Os, Jim; Lynskey, Michael; Morgan, Craig; O'Donovan, Michael; Lewis, Cathryn M.; Sham, Pak C.; Murray, Robin M.; Vassos, Evangelos; Di Forti, Marta 分享 收藏
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Selective targeting BMP2 and 4 in SMAD4 negative esophageal adenocarcinoma inhibits tumor growth and aggressiveness in preclinical models Li, Shulin; Hoefnagel, Sanne J. M.; Read, Matthew; Meijer, Sybren; Henegouwen, Mark I. van Berge; Gisbertz, Suzanne S.; Bonora, Elena; Liu, David S. H.; Phillips, Wayne A.; Calpe, Silvia; Correia, Ana C. P.; Sancho-Serra, Maria D. C.; Mattioli, Sandro; Krishnadath, Kausilia K. 分享 收藏
HDAC9 structural variants disrupting TWIST1 transcriptional regulation lead to craniofacial and limb malformations Hirsch, Naama; Dahan, Idit; D'haene, Eva; Avni, Matan; Vergult, Sarah; Vidal-Garcia, Marta; Magini, Pamela; Graziano, Claudio; Severi, Giulia; Bonora, Elena; Nardone, Anna Maria; Brancati, Francesco; Fernandez-Jaen, Alberto; Rory, Olson J.; Hallgrimsson, Benedikt; Birnbaum, Ramon Y. 分享 收藏
Use of multiple polygenic risk scores for distinguishing schizophrenia-spectrum disorder and affective psychosis categories in a first-episode sample; the EU-GEI study 在首发样本中使用多个多基因风险评分来区分精神分裂症谱系障碍和情感性精神病类别; Eu-gei研究 Rodriguez, Victoria; Alameda, Luis; Quattrone, Diego; Tripoli, Giada; Gayer-Anderson, Charlotte; Spinazzola, Edoardo; Trotta, Giulia; Jongsma, Hannah E.; Stilo, Simona; La Cascia, Caterina; Ferraro, Laura; La Barbera, Daniele; Lasalvia, Antonio; Tosato, Sarah; Tarricone, Ilaria; Bonora, Elena; Jamain, Stephane; Selten, Jean-Paul; Velthorst, Eva; de Haan, Lieuwe; Llorca, Pierre-Michel; Arrojo, Manuel; Bobes, Julio; Bernardo, Miguel; Arango, Celso; Kirkbride, James; Jones, Peter B.; Rutten, Bart P.; Richards, Alexander; Sham, Pak C.; O'Donovan, Michael; Van Os, Jim; Morgan, Craig; Di Forti, Marta; Murray, Robin M.; Vassos, Evangelos 分享 收藏
The continuity of effect of schizophrenia polygenic risk score and patterns of cannabis use on transdiagnostic symptom dimensions at first-episode psychosis: findings from the EU-GEI study 精神分裂症多基因风险评分和大麻使用模式对首发精神病的跨诊断症状维度的影响的连续性: eu-gei研究的发现 Quattrone, Diego; Reininghaus, Ulrich; Richards, Alex L.; Tripoli, Giada; Ferraro, Laura; Quattrone, Andrea; Marino, Paolo; Rodriguez, Victoria; Spinazzola, Edoardo; Gayer-Anderson, Charlotte; Jongsma, Hannah E.; Jones, Peter B.; La Cascia, Caterina; La Barbera, Daniele; Tarricone, Ilaria; Bonora, Elena; Tosato, Sarah; Lasalvia, Antonio; Szoke, Andrei; Arango, Celso; Bernardo, Miquel; Bobes, Julio; Del Ben, Cristina Marta; Menezes, Paulo Rossi; Llorca, Pierre-Michel; Santos, Jose Luis; Sanjuan, Julio; Arrojo, Manuel; Tortelli, Andrea; Velthorst, Eva; Berendsen, Steven; de Haan, Lieuwe; Rutten, Bart P. F.; Lynskey, Michael T.; Freeman, Tom P.; Kirkbride, James B.; Sham, Pak C.; O'Donovan, Michael C.; Cardno, Alastair G.; Vassos, Evangelos; van Os, Jim; Morgan, Craig; Murray, Robin M.; Lewis, Cathryn M.; Di Forti, Marta 分享 收藏
PTEN Hamartoma Tumor Syndrome: Skin Manifestations and Insights Into Their Molecular Pathogenesis Innella, Giovanni; Bonora, Elena; Neri, Iria; Virdi, Annalucia; Guglielmo, Alba; Pradella, Laura Maria; Ceccarelli, Claudio; Amato, Laura Benedetta; Lanzoni, Anna; Miccoli, Sara; Gasparre, Giuseppe; Zuntini, Roberta; Turchetti, Daniela 分享 收藏
Biallelic variants in LIG3 cause a novel mitochondrial neurogastrointestinal encephalomyopathy Bonora, Elena; Chakrabarty, Sanjiban; Kellaris, Georgios; Tsutsumi, Makiko; Bianco, Francesca; Bergamini, Christian; Ullah, Farid; Isidori, Federica; Liparulo, Irene; Diquigiovanni, Chiara; Masin, Luca; Rizzardi, Nicola; Cratere, Mariapia Giuditta; Boschetti, Elisa; Papa, Valentina; Maresca, Alessandra; Cenacchi, Giovanna; Casadio, Rita; Martelli, Pierluigi; Matera, Ivana; Ceccherini, Isabella; Fato, Romana; Raiola, Giuseppe; Arrigo, Serena; Signa, Sara; Sementa, Angela Rita; Severino, Mariasavina; Striano, Pasquale; Fiorillo, Chiara; Goto, Tsuyoshi; Uchino, Shumpei; Oyazato, Yoshinobu; Nakamura, Hisayoshi; Mishra, Sushil K.; Yeh, Yu-Sheng; Kato, Takema; Nozu, Kandai; Tanboon, Jantima; Morioka, Ichiro; Nishino, Ichizo; Toda, Tatsushi; Goto, Yu-ichi; Ohtake, Akira; Kosaki, Kenjiro; Yamaguchi, Yoshiki; Nonaka, Ikuya; Iijima, Kazumoto; Mimaki, Masakazu; Kurahashi, Hiroki; Raams, Anja; MacInnes, Alyson; Alders, Mariel; Engelen, Marc; Linthorst, Gabor; de Koning, Tom; den Dunnen, Wilfred; Dijkstra, Gerard; van Spaendonck, Karin; van Gent, Dik C.; Aronica, Eleonora M.; Picco, Paolo; Carelli, Valerio; Seri, Marco; Katsanis, Nicholas; Duijkers, Floor A. M.; Taniguchi-Ikeda, Mariko; De Giorgio, Roberto 分享 收藏
Whole Genome Sequencing Prioritizes CHEK2, EWSR1, and TIAM1 as Possible Predisposition Genes for Familial Non-Medullary Thyroid Cancer Srivastava, Aayushi; Giangiobbe, Sara; Skopelitou, Diamanto; Miao, Beiping; Paramasivam, Nagarajan; Diquigiovanni, Chiara; Bonora, Elena; Hemminki, Kari; Forsti, Asta; Bandapalli, Obul Reddy 分享 收藏
Targeted Sequencing of Sorted Esophageal Adenocarcinoma Cells Unveils Known and Novel Mutations in the Separated Subpopulations Isidori, Federica; Bozzarelli, Isotta; Mastracci, Luca; Malvi, Deborah; Lugaresi, Marialuisa; Molinari, Chiara; Soderstrom, Henna; Rasanen, Jari; D'Errico, Antonia; Fiocca, Roberto; Seri, Marco; Krishnadath, Kausilia K.; Bonora, Elena; Mattioli, Sandro 分享 收藏
A New Homozygous CACNB2 Mutation has Functional Relevance and Supports a Role for Calcium Channels in Autism Spectrum Disorder Graziano, Claudio; Despang, Patrick; Palombo, Flavia; Severi, Giulia; Posar, Annio; Cassio, Alessandra; Pippucci, Tommaso; Isidori, Federica; Matthes, Jan; Bonora, Elena 分享 收藏
Mast cell-nerve interactions correlate with bloating and abdominal pain severity in patients with non-celiac gluten / wheat sensitivity Giancola, Fiorella; Volta, Umberto; Repossi, Roberta; Latorre, Rocco; Beeckmans, Dorien; Carbone, Florencia; Van den Houte, Karen; Bianco, Francesca; Bonora, Elena; Gori, Alessandra; Costanzini, Anna; Boschetti, Elisa; Caio, Giacomo; Vanuytsel, Tim; Stanghellini, Vincenzo; Tack, Jan; De Giorgio, Roberto 分享 收藏
Enteric neuron density correlates with clinical features of severe gut dysmotility Boschetti, Elisa; Malagelada, Carolina; Accarino, Anna; Malagelada, Juan R.; Cogliandro, Rosanna F.; Gori, Alessandra; Bonora, Elena; Giancola, Fiorella; Bianco, Francesca; Tugnoli, Vitaliano; Clavenzani, Paolo; Azpiroz, Fernando; Stanghellini, Vincenzo; Sternini, Catia; De Giorgio, Roberto 分享 收藏
A novel mutation in SPART gene causes a severe neurodevelopmental delay due to mitochondrial dysfunction with complex I impairments and altered pyruvate metabolism Diquigiovanni, Chiara; Bergamini, Christian; Diaz, Rebeca; Liparulo, Irene; Bianco, Francesca; Masin, Luca; Baldassarro, Vito Antonio; Rizzardi, Nicola; Tranchina, Antonia; Buscherini, Francesco; Wischmeijer, Anita; Pippucci, Tommaso; Scarano, Emanuela; Cordelli, Duccio Maria; Fato, Romana; Seri, Marco; Paracchini, Silvia; Bonora, Elena 分享 收藏
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