Sfoglia per Autore
Lights and shadows in the genetics of syndromic and non-syndromic hearing loss in the Italian population
2020-01-01 Morgan, A.; Lenarduzzi, S.; Spedicati, B.; Cattaruzzi, E.; Murru, F. M.; Pelliccione, G.; Mazza, D.; Zollino, M.; Graziano, C.; Ambrosetti, U.; Seri, M.; Faletra, F.; Girotto, G.
TBC1D24 and non-syndromic autosomal dominant hearing loss: the identification of an additional Italo-American family carrying the p.(S178L) mutation
2021-01-01 Spedicati, Beatrice; Morgan, Anna; Faletra, Flavio; Feresin, Agnese; Pelliccione, Giulia; Gasparini, Paolo; Girotto, Giorgia
The role of knockout olfactory receptor genes in odor discrimination
2021-01-01 Concas, M. P.; Cocca, M.; Francescatto, M.; Battistuzzi, T.; Spedicati, B.; Feresin, A.; Morgan, A.; Gasparini, P.; Girotto, G.
Natural human knockouts and Mendelian disorders: deep phenotyping in Italian isolates
2021-01-01 Spedicati, B.; Cocca, M.; Palmisano, R.; Faletra, F.; Barbieri, C.; Francescatto, M.; Mezzavilla, M.; Morgan, A.; Pelliccione, G.; Gasparini, P.; Girotto, G.
Differential and shared genetic effects on kidney function between diabetic and non-diabetic individuals
2022-01-01 Winkler, Thomas W; Rasheed, Humaira; Teumer, Alexander; Gorski, Mathias; Rowan, Bryce X; Stanzick, Kira J; Thomas, Laurent F; Tin, Adrienne; Hoppmann, Anselm; Chu, Audrey Y; Tayo, Bamidele; Thio, Chris H L; Cusi, Daniele; Chai, Jin-Fang; Sieber, Karsten B; Horn, Katrin; Li, Man; Scholz, Markus; Cocca, Massimiliano; Wuttke, Matthias; van der Most, Peter J; Yang, Qiong; Ghasemi, Sahar; Nutile, Teresa; Li, Yong; Pontali, Giulia; Günther, Felix; Dehghan, Abbas; Correa, Adolfo; Parsa, Afshin; Feresin, Agnese; de Vries, Aiko P J; Zonderman, Alan B; Smith, Albert V; Oldehinkel, Albertine J; De Grandi, Alessandro; Rosenkranz, Alexander R; Franke, Andre; Teren, Andrej; Metspalu, Andres; Hicks, Andrew A; Morris, Andrew P; Tönjes, Anke; Morgan, Anna; Podgornaia, Anna I; Peters, Annette; Körner, Antje; Mahajan, Anubha; Campbell, Archie; Freedman, Barry I; Spedicati, Beatrice; Ponte, Belen; Schöttker, Ben; Brumpton, Ben; Banas, Bernhard; Krämer, Bernhard K; Jung, Bettina; Åsvold, Bjørn Olav; Smith, Blair H; Ning, Boting; Penninx, Brenda W J H; Vanderwerff, Brett R; Psaty, Bruce M; Kammerer, Candace M; Langefeld, Carl D; Hayward, Caroline; Spracklen, Cassandra N; Robinson-Cohen, Cassianne; Hartman, Catharina A; Lindgren, Cecilia M; Wang, Chaolong; Sabanayagam, Charumathi; Heng, Chew-Kiat; Lanzani, Chiara; Khor, Chiea-Chuen; Cheng, Ching-Yu; Fuchsberger, Christian; Gieger, Christian; Shaffer, Christian M; Schulz, Christina-Alexandra; Willer, Cristen J; Chasman, Daniel I; Gudbjartsson, Daniel F; Ruggiero, Daniela; Toniolo, Daniela; Czamara, Darina; Porteous, David J; Waterworth, Dawn M; Mascalzoni, Deborah; Mook-Kanamori, Dennis O; Reilly, Dermot F; Daw, E Warwick; Hofer, Edith; Boerwinkle, Eric; Salvi, Erika; Bottinger, Erwin P; Tai, E-Shyong; Catamo, Eulalia; Rizzi, Federica; Guo, Feng; Rivadeneira, Fernando; Guilianini, Franco; Sveinbjornsson, Gardar; Ehret, Georg; Waeber, Gerard; Biino, Ginevra; Girotto, Giorgia; Pistis, Giorgio; Nadkarni, Girish N; Delgado, Graciela E; Montgomery, Grant W; Snieder, Harold; Campbell, Harry; White, Harvey D; Gao, He; Stringham, Heather M; Schmidt, Helena; Li, Hengtong; Brenner, Hermann; Holm, Hilma; Kirsten, Holgen; Kramer, Holly; Rudan, Igor; Nolte, Ilja M; Tzoulaki, Ioanna; Olafsson, Isleifur; Martins, Jade; Cook, James P; Wilson, James F; Halbritter, Jan; Felix, Janine F; Divers, Jasmin; Kooner, Jaspal S; Lee, Jeannette Jen-Mai; O'Connell, Jeffrey; Rotter, Jerome I; Liu, Jianjun; Xu, Jie; Thiery, Joachim; Ärnlöv, Johan; Kuusisto, Johanna; Jakobsdottir, Johanna; Tremblay, Johanne; Chambers, John C; Whitfield, John B; Gaziano, John M; Marten, Jonathan; Coresh, Josef; Jonas, Jost B; Mychaleckyj, Josyf C; Christensen, Kaare; Eckardt, Kai-Uwe; Mohlke, Karen L; Endlich, Karlhans; Dittrich, Katalin; Ryan, Kathleen A; Rice, Kenneth M; Taylor, Kent D; Ho, Kevin; Nikus, Kjell; Matsuda, Koichi; Strauch, Konstantin; Miliku, Kozeta; Hveem, Kristian; Lind, Lars; Wallentin, Lars; Yerges-Armstrong, Laura M; Raffield, Laura M; Phillips, Lawrence S; Launer, Lenore J; Lyytikäinen, Leo-Pekka; Lange, Leslie A; Citterio, Lorena; Klaric, Lucija; Ikram, M Arfan; Ising, Marcus; Kleber, Marcus E; Francescatto, Margherita; Concas, Maria Pina; Ciullo, Marina; Piratsu, Mario; Orho-Melander, Marju; Laakso, Markku; Loeffler, Markus; Perola, Markus; de Borst, Martin H; Gögele, Martin; Bianca, Martina La; Lukas, Mary Ann; Feitosa, Mary F; Biggs, Mary L; Wojczynski, Mary K; Kavousi, Maryam; Kanai, Masahiro; Akiyama, Masato; Yasuda, Masayuki; Nauck, Matthias; Waldenberger, Melanie; Chee, Miao-Li; Chee, Miao-Ling; Boehnke, Michael; Preuss, Michael H; Stumvoll, Michael; Province, Michael A; Evans, Michele K; O'Donoghue, Michelle L; Kubo, Michiaki; Kähönen, Mika; Kastarinen, Mika; Nalls, Mike A; Kuokkanen, Mikko; Ghanbari, Mohsen; Bochud, Murielle; Josyula, Navya Shilpa; Martin, Nicholas G; Tan, Nicholas Y Q; Palmer, Nicholette D; Pirastu, Nicola; Schupf, Nicole; Verweij, Niek; Hutri-Kähönen, Nina; Mononen, Nina; Bansal, Nisha; Devuyst, Olivier; Melander, Olle; Raitakari, Olli T; Polasek, Ozren; Manunta, Paolo; Gasparini, Paolo; Mishra, Pashupati P; Sulem, Patrick; Magnusson, Patrik K E; Elliott, Paul; Ridker, Paul M; Hamet, Pavel; Svensson, Per O; Joshi, Peter K; Kovacs, Peter; Pramstaller, Peter P; Rossing, Peter; Vollenweider, Peter; van der Harst, Pim; Dorajoo, Rajkumar; Sim, Ralene Z H; Burkhardt, Ralph; Tao, Ran; Noordam, Raymond; Mägi, Reedik; Schmidt, Reinhold; de Mutsert, Renée; Rueedi, Rico; van Dam, Rob M; Carroll, Robert J; Gansevoort, Ron T; Loos, Ruth J F; Felicita, Sala Cinzia; Sedaghat, Sanaz; Padmanabhan, Sandosh; Freitag-Wolf, Sandra; Pendergrass, Sarah A; Graham, Sarah E; Gordon, Scott D; Hwang, Shih-Jen; Kerr, Shona M; Vaccargiu, Simona; Patil, Snehal B; Hallan, Stein; Bakker, Stephan J L; Lim, Su-Chi; Lucae, Susanne; Vogelezang, Suzanne; Bergmann, Sven; Corre, Tanguy; Ahluwalia, Tarunveer S; Lehtimäki, Terho; Boutin, Thibaud S; Meitinger, Thomas; Wong, Tien-Yin; Bergler, Tobias; Rabelink, Ton J; Esko, Tõnu; Haller, Toomas; Thorsteinsdottir, Unnur; Völker, Uwe; Foo, Valencia Hui Xian; Salomaa, Veikko; Vitart, Veronique; Giedraitis, Vilmantas; Gudnason, Vilmundur; Jaddoe, Vincent W V; Huang, Wei; Zhang, Weihua; Wei, Wen Bin; Kiess, Wieland; März, Winfried; Koenig, Wolfgang; Lieb, Wolfgang; Gao, Xin; Sim, Xueling; Wang, Ya Xing; Friedlander, Yechiel; Tham, Yih-Chung; Kamatani, Yoichiro; Okada, Yukinori; Milaneschi, Yuri; Yu, Zhi; Stark, Klaus J; Stefansson, Kari; Böger, Carsten A; Hung, Adriana M; Kronenberg, Florian; Köttgen, Anna; Pattaro, Cristian; Heid, Iris M
Impact of cultural and genetic structure on food choices along the Silk Road
2022-01-01 Aneli, Serena; Mezzavilla, Massimo; Bortolini, Eugenio; Pirastu, Nicola; Girotto, Giorgia; Spedicati, Beatrice; Berchialla, Paola; Gasparini, Paolo; Pagani, Luca
Challenging Occam's Razor: Dual Molecular Diagnoses Explain Entangled Clinical Pictures
2022-01-01 Spedicati, Beatrice; Morgan, Anna; Pianigiani, Giulia; Musante, Luciana; Rubinato, Elisa; Santin, Aurora; Nardone, Giuseppe Giovanni; Faletra, Flavio; Girotto, Giorgia
Exome sequencing efficacy and phenotypic expansions involving esophageal atresia/tracheoesophageal fistula plus
2022-01-01 Sy, Mary R; Chauhan, Jaynee; Prescott, Katrina; Imam, Aliza; Kraus, Alison; Beleza, Ana; Salkeld, Lee; Hosdurga, Saraswati; Parker, Michael; Vasudevan, Pradeep; Islam, Lily; Goel, Himanshu; Bain, Nicole; Park, Soo-Mi; Mohammed, Shehla; Dieterich, Klaus; Coutton, Charles; Satre, Véronique; Vieville, Gaëlle; Donaldson, Alan; Beneteau, Claire; Ghoumid, Jamal; Van Den Bogaert, Kris; Boogaerts, Anneleen; Boudry, Elise; Vanlerberghe, Clémence; Petit, Florence; Bernardini, Laura; Torres, Barbara; Mattina, Teresa; Carli, Diana; Mandrile, Giorgia; Pinelli, Michele; Brunetti-Pierri, Nicola; Neas, Katherine; Beddow, Rachel; Tørring, Pernille M; Faletra, Flavio; Spedicati, Beatrice; Gasparini, Paolo; Mussa, Alessandro; Ferrero, Giovanni Battista; Lampe, Anne; Lam, Wayne; Bi, Weimin; Bacino, Carlos A; Kuwahara, Akela; Bush, Jeffrey O; Zhao, Xiaonan; Luna, Pamela N; Shaw, Chad A; Rosenfeld, Jill A; Scott, Daryl A
Which Came First? When Usher Syndrome Type 1 Couples with Neuropsychiatric Disorders
2023-01-01 Tesolin, Paola; Santin, Aurora; Morgan, Anna; Lenarduzzi, Stefania; Rubinato, Elisa; Girotto, Giorgia; Spedicati, Beatrice
The Enigmatic Genetic Landscape of Hereditary Hearing Loss: A Multistep Diagnostic Strategy in the Italian Population
2023-01-01 Spedicati, Beatrice; Santin, Aurora; Nardone, Giuseppe Giovanni; Rubinato, Elisa; Lenarduzzi, Stefania; Graziano, Claudio; Garavelli, Livia; Miccoli, Sara; Bigoni, Stefania; Morgan, Anna; Girotto, Giorgia
Odontostomatological Traits in North-Eastern Italy's Isolated Populations: An Epidemiological Cross-Sectional Study
2023-01-01 Luppieri, Valentina; Pecori, Alessandro; Spedicati, Beatrice; Schito, Riccardo; Pozzan, Lucia; Santin, Aurora; Girotto, Giorgia; Cadenaro, Milena; Concas, Maria Pina
Infant with a big head and 'crossed' polysyndactyly
2023-01-01 Tamaro, Gianluca; Baldo, Francesco; Spedicati, Beatrice; Taddio, Andrea; Faletra, Flavio; Barbi, Egidio
Puzzling Out the Genetic Architecture of Endometriosis: Whole-Exome Sequencing and Novel Candidate Gene Identification in a Deeply Clinically Characterised Cohort
2023-01-01 Santin, Aurora; Spedicati, Beatrice; Morgan, Anna; Lenarduzzi, Stefania; Tesolin, Paola; Nardone, Giuseppe Giovanni; Mazzà, Daniela; Di Lorenzo, Giovanni; Romano, Federico; Buonomo, Francesca; Mangogna, Alessandro; Concas, Maria Pina; Zito, Gabriella; Ricci, Giuseppe; Girotto, Giorgia
Identifying missing pieces in color vision defects: a genome-wide association study in Silk Road populations
2023-01-01 Nardone, Giuseppe Giovanni; Spedicati, Beatrice; Concas, Maria Pina; Santin, Aurora; Morgan, Anna; Mazzetto, Lorenzo; Battaglia-Parodi, Maurizio; Girotto, Giorgia
Gene-educational attainment interactions in a multi-population genome-wide meta-analysis identify novel lipid loci
2023-01-01 de las Fuentes, Lisa; Schwander, Karen L.; Brown, Michael R.; Bentley, Amy R.; Winkler, Thomas W.; Sung, Yun Ju; Munroe, Patricia B.; Miller, Clint L.; Aschard, Hugo; Aslibekyan, Stella; Bartz, Traci M.; Bielak, Lawrence F.; Chai, Jin Fang; Cheng, Ching-Yu; Dorajoo, Rajkumar; Feitosa, Mary F.; Guo, Xiuqing; Hartwig, Fernando P.; Horimoto, Andrea; Kolčić, Ivana; Lim, Elise; Liu, Yongmei; Manning, Alisa K.; Marten, Jonathan; Musani, Solomon K.; Noordam, Raymond; Padmanabhan, Sandosh; Rankinen, Tuomo; Richard, Melissa A.; Ridker, Paul M.; Smith, Albert V.; Vojinovic, Dina; Zonderman, Alan B.; Alver, Maris; Boissel, Mathilde; Christensen, Kaare; Freedman, Barry I.; Gao, Chuan; Giulianini, Franco; Harris, Sarah E.; He, Meian; Hsu, Fang-Chi; Kühnel, Brigitte; Laguzzi, Federica; Li, Xiaoyin; Lyytikäinen, Leo-Pekka; Nolte, Ilja M.; Poveda, Alaitz; Rauramaa, Rainer; Riaz, Muhammad; Robino, Antonietta; Sofer, Tamar; Takeuchi, Fumihiko; Tayo, Bamidele O.; van der Most, Peter J.; Verweij, Niek; Ware, Erin B.; Weiss, Stefan; Wen, Wanqing; Yanek, Lisa R.; Zhan, Yiqiang; Amin, Najaf; Arking, Dan E.; Ballantyne, Christie; Boerwinkle, Eric; Brody, Jennifer A.; Broeckel, Ulrich; Campbell, Archie; Canouil, Mickaël; Chai, Xiaoran; Chen, Yii-Der Ida; Chen, Xu; Chitrala, Kumaraswamy Naidu; Concas, Maria Pina; de Faire, Ulf; de Mutsert, Renée; de Silva, H. Janaka; de Vries, Paul S.; Do, Ahn; Faul, Jessica D.; Fisher, Virginia; Floyd, James S.; Forrester, Terrence; Friedlander, Yechiel; Girotto, Giorgia; Gu, C. Charles; Hallmans, Göran; Heikkinen, Sami; Heng, Chew-Kiat; Homuth, Georg; Hunt, Steven; Ikram, M. Arfan; Jacobs, David R.; Kavousi, Maryam; Khor, Chiea Chuen; Kilpeläinen, Tuomas O.; Koh, Woon-Puay; Komulainen, Pirjo; Langefeld, Carl D.; Liang, Jingjing; Liu, Kiang; Liu, Jianjun; Lohman, Kurt; Mägi, Reedik; Manichaikul, Ani W.; Mckenzie, Colin A.; Meitinger, Thomas; Milaneschi, Yuri; Nauck, Matthias; Nelson, Christopher P.; O’Connell, Jeffrey R.; Palmer, Nicholette D.; Pereira, Alexandre C.; Perls, Thomas; Peters, Annette; Polašek, Ozren; Raitakari, Olli T.; Rice, Kenneth; Rice, Treva K.; Rich, Stephen S.; Sabanayagam, Charumathi; Schreiner, Pamela J.; Shu, Xiao-Ou; Sidney, Stephen; Sims, Mario; Smith, Jennifer A.; Starr, John M.; Strauch, Konstantin; Tai, E. Shyong; Taylor, Kent D.; Tsai, Michael Y.; Uitterlinden, André G.; van Heemst, Diana; Waldenberger, Melanie; Wang, Ya-Xing; Wei, Wen-Bin; Wilson, Gregory; Xuan, Deng; Yao, Jie; Yu, Caizheng; Yuan, Jian-Min; Zhao, Wei; Becker, Diane M.; Bonnefond, Amélie; Bowden, Donald W.; Cooper, Richard S.; Deary, Ian J.; Divers, Jasmin; Esko, Tõnu; Franks, Paul W.; Froguel, Philippe; Gieger, Christian; Jonas, Jost B.; Kato, Norihiro; Lakka, Timo A.; Leander, Karin; Lehtimäki, Terho; Magnusson, Patrik K. E.; North, Kari E.; Ntalla, Ioanna; Penninx, Brenda; Samani, Nilesh J.; Snieder, Harold; Spedicati, Beatrice; van der Harst, Pim; Völzke, Henry; Wagenknecht, Lynne E.; Weir, David R.; Wojczynski, Mary K.; Wu, Tangchun; Zheng, Wei; Zhu, Xiaofeng; Bouchard, Claude; Chasman, Daniel I.; Evans, Michele K.; Fox, Ervin R.; Gudnason, Vilmundur; Hayward, Caroline; Horta, Bernardo L.; Kardia, Sharon L. R.; Krieger, Jose Eduardo; Mook-Kanamori, Dennis O.; Peyser, Patricia A.; Province, Michael M.; Psaty, Bruce M.; Rudan, Igor; Sim, Xueling; Smith, Blair H.; van Dam, Rob M.; van Duijn, Cornelia M.; Wong, Tien Yin; Arnett, Donna K.; Rao, Dabeeru C.; Gauderman, James; Liu, Ching-Ti; Morrison, Alanna C.; Rotter, Jerome I.; Fornage, Myriam
Regulator of G-Protein Signalling 9: A New Candidate Gene for Sweet Food Liking?
2023-01-01 Graham, Catherine Anna-Marie; Spedicati, Beatrice; Pelliccione, Giulia; Gasparini, Paolo; Concas, Maria Pina
Beckwith-Wiedemann syndrome and twinning: case report and brief review of literature
2023-01-01 Elefante, Pierandrea; Spedicati, Beatrice; Faletra, Flavio; Pignata, Laura; Cerrato, Flavia; Riccio, Andrea; Barbi, Egidio; Memo, Luigi; Travan, Laura
Whole-exome sequencing: Clinical characterization of pediatric and adult Italian patients affected by different forms of hereditary cardiovascular diseases
2023-01-01 Lenarduzzi, Stefania; Spedicati, Beatrice; Alessandrini, Beatrice; Tesolin, Paola; Paldino, Alessia; Gigli, Marta; Sinagra, Gianfranco; Gasparini, Paolo; Ferro, Matteo Dal; Girotto, Giorgia
Clenching the Strings of Bruxism Etiopathogenesis: Association Analyses on Genetics and Environmental Risk Factors in a Deeply Characterized Italian Cohort
2024-01-01 Pecori, Alessandro; Luppieri, Valentina; Santin, Aurora; Spedicati, Beatrice; Zampieri, Stefania; Cadenaro, Milena; Girotto, Giorgia; Concas, Maria Pina
The Bittersweet Symphony of COVID-19: Associations between TAS1Rs and TAS2R38 Genetic Variations and COVID-19 Symptoms
2024-01-01 Santin, Aurora; Spedicati, Beatrice; Pecori, Alessandro; Nardone, Giuseppe Giovanni; Concas, Maria Pina; Piatti, Gioia; Menini, Anna; Tirelli, Giancarlo; Boscolo-Rizzo, Paolo; Girotto, Giorgia
Legenda icone
- file ad accesso aperto
- file disponibili sulla rete interna
- file disponibili agli utenti autorizzati
- file disponibili solo agli amministratori
- file sotto embargo
- nessun file disponibile