Now showing 1 - 10 of 19
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Hearing function: Identification of new candidate genes further explaining the complexity of this sensory ability

, Concas Maria Pina, Morgan Anna, Serra Fabrizio, Nagtegaal A.P., Oosterloo B.C., Seshadri S., Heard-Costa N., Van Camp G., Fransen E., Francescatto M., Logroscino G., Sardone R., Quaranta N., Gasparini Paolo, Girotto Giorgia

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Pendred syndrome, or not pendred syndrome? That is the question

, Tesolin Paola, Fiorino Sofia, Lenarduzzi Stefania, Rubinato Elisa, Cattaruzzi Elisabetta, Ammar Lydie, Castro Veronica, Orzan Eva, Granata Claudio, Dell¿orco Daniele, Morgan Anna, Girotto Giorgia

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Variants in USP48 encoding ubiquitin hydrolase are associated with autosomal dominant non-syndromic hereditary hearing loss

, Bassani Sissy, Van Beelen Edward, Rossel Mireille, Voisin Norine, Morgan Anna, Arribat Yoan, Chatron Nicolas, Chrast Jacqueline, Cocca Massimiliano, Delprat Benjamin, Faletra Flavio, Giannuzzi Giuliana, Guex Nicolas, Machavoine Roxane, Pradervand Sylvain, Smits Jeroen J., Van De Kamp Jiddeke M., Ziegler Alban, Amati Francesca, Marlin Sandrine, Kremer Hannie, Locher Heiko, Maurice Tangui, Gasparini Paolo, Girotto Giorgia, Reymond Alexandre

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Differential and shared genetic effects on kidney function between diabetic and non-diabetic individuals

, Thomas W. Winkler, Humaira Rasheed, Alexander Teumer, Mathias Gorski, Bryce X. Rowan, Kira J. Stanzick, Laurent F. Thomas, Adrienne Tin, Anselm Hoppmann, Audrey Y. Chu, Bamidele Tayo, Chris H. L. Thio, Daniele Cusi, Jin-Fang Chai, Karsten B. Sieber, Katrin Horn, Man Li, Markus Scholz, Cocca Massimiliano, Matthias Wuttke, Peter J. van der Most, Qiong Yang, Sahar Ghasemi, Teresa Nutile, Yong Li, Giulia Pontali, Felix Günther, Abbas Dehghan, Adolfo Correa, Afshin Parsa, Agnese Feresin, Aiko P. J. de Vries, Alan B. Zonderman, Albert V. Smith, Albertine J. Oldehinkel, Alessandro De Grandi, Alexander R. Rosenkranz, Andre Franke, Andrej Teren, Andres Metspalu, Andrew A. Hicks, Andrew P. Morris, Anke Tönjes, Morgan Anna, Anna I. Podgornaia, Annette Peters, Antje Körner, Anubha Mahajan, Archie Campbell, Barry I. Freedman, Beatrice Spedicati, Belen Ponte, Ben Schöttker, Ben Brumpton, Bernhard Banas, Bernhard K. Krämer, Bettina Jung, Bjørn Olav Åsvold, Blair H. Smith, Boting Ning, Brenda W. J. H. Penninx, Brett R. Vanderwerff, Bruce M. Psaty, Candace M. Kammerer, Carl D. Langefeld, Caroline Hayward, Cassandra N. Spracklen, Cassianne Robinson-Cohen, Catharina A. Hartman, Cecilia M. Lindgren, Chaolong Wang, Charumathi Sabanayagam, Chew-Kiat Heng, Chiara Lanzani, Chiea-Chuen Khor, Ching-Yu Cheng, Christian Fuchsberger, Christian Gieger, Christian M. Shaffer, Christina-Alexandra Schulz, Cristen J. Willer, Daniel I. Chasman, Daniel F. Gudbjartsson, Daniela Ruggiero, Daniela Toniolo, Darina Czamara, David J. Porteous, Dawn M. Waterworth, Deborah Mascalzoni, Dennis O. Mook-Kanamori, Dermot F. Reilly, E. Warwick Daw, Edith Hofer, Eric Boerwinkle, Erika Salvi, Erwin P. Bottinger, E-Shyong Tai, Catamo Eulalia, Federica Rizzi, Feng Guo, Fernando Rivadeneira, Franco Guilianini, Gardar Sveinbjornsson, Georg Ehret, Gerard Waeber, Ginevra Biino, Girotto Giorgia, Giorgio Pistis, Girish N. Nadkarni, Graciela E. Delgado, Grant W. Montgomery, Harold Snieder, Harry Campbell, Harvey D. White, He Gao, Heather M. Stringham, Helena Schmidt, Hengtong Li, Hermann Brenner, Hilma Holm, Holgen Kirsten, Holly Kramer, Igor Rudan, Ilja M. Nolte, Ioanna Tzoulaki, Isleifur Olafsson, Jade Martins, James P. Cook, James F. Wilson, Jan Halbritter, Janine F. Felix, Jasmin Divers, Jaspal S. Kooner, Jeannette Jen-Mai Lee, Jeffrey O¿Connell, Jerome I. Rotter, Jianjun Liu, Jie Xu, Joachim Thiery, Johan Ärnlöv, Johanna Kuusisto, Johanna Jakobsdottir, Johanne Tremblay, John C. Chambers, John B. Whitfield, John M. Gaziano, Jonathan Marten, Josef Coresh, Jost B. Jonas, Josyf C. Mychaleckyj, Kaare Christensen, Kai-Uwe Eckardt, Karen L. Mohlke, Karlhans Endlich, Katalin Dittrich, Kathleen A. Ryan, Kenneth M. Rice, Kent D. Taylor, Kevin Ho, Kjell Nikus, Koichi Matsuda, Konstantin Strauch, Kozeta Miliku, Kristian Hveem, Lars Lind, Lars Wallentin, Laura M. Yerges-Armstrong, Laura M. Raffield, Lawrence S. Phillips, Lenore J. Launer, Leo-Pekka Lyytikäinen, Leslie A. Lange, Lorena Citterio, Lucija Klaric, M. Arfan Ikram, Marcus Ising, Marcus E. Kleber, Margherita Francescatto, Concas Maria Pina, Marina Ciullo, Mario Piratsu, Marju Orho-Melander, Markku Laakso, Markus Loeffler, Markus Perola, Martin H. de Borst, Martin Gögele, La Bianca Martina, Mary Ann Lukas, Mary F. Feitosa, Mary L. Biggs, Mary K. Wojczynski, Maryam Kavousi, Masahiro Kanai, Masato Akiyama, Masayuki Yasuda, Matthias Nauck, Melanie Waldenberger, Miao-Li Chee, Miao-Ling Chee, Michael Boehnke, Michael H. Preuss, Michael Stumvoll, Michael A. Province, Michele K. Evans, Michelle L. O¿Donoghue, Michiaki Kubo, Mika Kähönen, Mika Kastarinen, Mike A. Nalls, Mikko Kuokkanen, Mohsen Ghanbari, Murielle Bochud, Nicholas G. Martin, Nicholas Y. Q. Tan, Nicholette D. Palmer, Nicola Pirastu, Nicole Schupf, Niek Verweij, Nina Hutri-Kähönen, Nina Mononen, Nisha Bansal, Olivier Devuyst, Olle Melander, Olli T. Raitakari, Ozren Polasek, Paolo Manunta, Gasparini Paolo, Pashupati P. Mishra, Patrick Sulem, Patrik K. E. Magnusson, Paul Elliott, Paul M. Ridker, Pavel Hamet, Per O. Svensson, Peter K. Joshi, Peter Kovacs, Peter P. Pramstaller, Peter Rossing, Peter Vollenweider, Pim van der Harst, Rajkumar Dorajoo, Ralene Z. H. Sim, Ralph Burkhardt, Ran Tao, Raymond Noordam, Reedik Mägi, Reinhold Schmidt, Renée de Mutsert, Rico Rueedi, Rob M. van Dam, Robert J. Carroll, Ron T. Gansevoort, Ruth J. F. Loos, Sala Cinzia Felicita, Sanaz Sedaghat, Sandosh Padmanabhan, Sandra Freitag-Wolf, Sarah A. Pendergrass, Sarah E. Graham, Scott D. Gordon, Shih-Jen Hwang, Shona M. Kerr, Simona Vaccargiu, Snehal B. Patil, Stein Hallan, Stephan J. L. Bakker, Su-Chi Lim, Susanne Lucae, Suzanne Vogelezang, Sven Bergmann, Tanguy Corre, Tarunveer S. Ahluwalia, Terho Lehtimäki, Thibaud S. Boutin, Thomas Meitinger, Tien-Yin Wong, Tobias Bergler, Ton J. Rabelink, Tõnu Esko, Toomas Haller, Unnur Thorsteinsdottir, Uwe Völker, Valencia Hui Xian Foo, Veikko Salomaa, Veronique Vitart, Vilmantas Giedraitis, Vilmundur Gudnason, Vincent W. V. Jaddoe, Wei Huang, Weihua Zhang, Wen Bin Wei, Wieland Kiess, Winfried März, Wolfgang Koenig, Wolfgang Lieb, Xin Gao, Xueling Sim, Ya Xing Wang, Yechiel Friedlander, Yih-Chung Tham, Yoichiro Kamatani, Yukinori Okada, Yuri Milaneschi, Zhi Yu, Chris H. L. Thio, Peter J. van der Most, Kevin Ho, Navya Shilpa Josyula, Sarah A. Pendergrass, Bryce X. Rowan, Cassianne Robinson-Cohen, John M. Gaziano, Lawrence S. Phillips, Ran Tao, Adriana M. Hung, Klaus J. Stark, Kari Stefansson, Carsten A. Böger, Florian Kronenberg, Anna Köttgen, Cristian Pattaro, Iris M. Heid

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Natural human knockouts and Mendelian disorders: deep phenotyping in Italian isolates

, Spedicati Beatrice, Cocca Massimiliano, Palmisano Roberto, Faletra Flavio, Barbieri Caterina, Francescatto Margherita, Mezzavilla Massimo, Morgan Anna, Pelliccione Giulia, Gasparini Paolo, Girotto Giorgia, Girotto Giorgia

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Genome-wide association study in almost 195,000 individuals identifies 50 previously unidentified genetic loci for eye color

, Simcoe Mark, Valdes Ana, Liu Fan, Furlotte Nicholas A., Evans David M., Hemani Gibran, Ring Susan M., Smith George Davey, Duffy David L., Zhu Gu, Gordon Scott D., Medland Sarah E., Vuckovic Dragana, Girotto Giorgia, Sala Cinzia, Catamo Eulalia, Concas Maria Pina, Brumat Marco, Gasparini Paolo, Toniolo Daniela, Cocca Massimiliano, Robino Antonietta, Yazar Seyhan, Hewitt Alex, Wu Wenting, Kraft Peter, Hammond Christopher J., Shi Yuan, Chen Yan, Zeng Changqing, Klaver Caroline C.W., Uitterlinden Andre G., Ikram M. Arfan, Hamer Merel A., van Duijn Cornelia M., Nijsten Tamar, Han Jiali, Mackey David A., Martin Nicholas G., Cheng Ching Yu, the 23andMe Research Team, the International Visible Trait Genetics Consortium Gruppo, Hinds David A., Spector Timothy D., Kayser Manfred, Hysi Pirro G.

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Non-Syndromic Autosomal Dominant Hearing Loss: The First Italian Family Carrying a Mutation in the NCOA3 Gene

, Tesolin Paola, Morgan Anna, Notarangelo Michela, Ortore Rocco Pio, Concas Maria Pina, Notarangelo Angelantonio, Girotto Giorgia

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Non-syndromic sensorineural prelingual and postlingual hearing loss due to col11a1 gene mutation

, Ciorba Andrea, Corazzi Virginia, Melegatti Michela, Morgan Anna, Pelliccione Giulia, Girotto Giorgia, Bigoni Stefania

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The power of genetic diversity in genome-wide association studies of lipids

, Graham S.E., Clarke S.L., Wu K.-H.H., Kanoni S., Zajac G.J.M., Ramdas S., Surakka I., Ntalla I., Vedantam S., Winkler T.W., Locke A.E., Marouli E., Hwang M.Y., Han S., Narita A., Choudhury A., Bentley A.R., Ekoru K., Verma A., Trivedi B., Martin H.C., Hunt K.A., Hui Q., Klarin D., Zhu X., Thorleifsson G., Helgadottir A., Gudbjartsson D.F., Holm H., Olafsson I., Akiyama M., Sakaue S., Terao C., Kanai M., Zhou W., Brumpton B.M., Rasheed H., Ruotsalainen S.E., Havulinna A.S., Veturi Y., Feng Q.P., Rosenthal E.A., Lingren T., Wang Y.X., Ruggiero D., Gorski M., Concas Maria Pina, Girotto Giorgia, Joshi P.K., Ciullo M.

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Genetic dissection of temperament personality traits in Italian isolates

, Concas Maria Pina, Minelli Alessandra, Aere Susanna, Morgan Anna, Tesolin Paola, Gasparini Paolo, Gennarelli Massimo, Girotto Giorgia