Αποτελέσματα αναζήτησης - Laura Crisponi
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A Novel Null Homozygous Mutation Confirms CACNA2D2 as a Gene Mutated in Epileptic Encephalopathy από Tommaso Pippucci, Antonia Parmeggiani, Flavia Palombo, Alessandra Maresca, Andrea Angius, Laura Crisponi, Francesco Cucca, Rocco Liguori, Maria Lucia Valentino, Marco Seri, Valério Carelli
Έκδοση 2013Artigo -
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Genetics of serum BDNF: Meta-analysis of the Val66Met and genome-wide association study από Antonio Terracciano, Maria Grazia Piras, Monia Lobina, Antonella Mulas, Osorio Meirelles, Angelina R. Sutin, Wayne Chan, Serena Sanna, Manuela Uda, Laura Crisponi, David Schlessinger
Έκδοση 2011Revisão -
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Crisponi Syndrome Is Caused by Mutations in the CRLF1 Gene and Is Allelic to Cold-Induced Sweating Syndrome Type 1 από Laura Crisponi, Giangiorgio Crisponi, Alessandra Meloni, Mohammad R. Toliat, Gudrun Nürnberg, Gianluca Usala, Manuela Uda, Marco Masala, Wolfgang Höhne, Christian Becker, Mara Marongiu, Francesca Chiappe, Robert Kleta, Anita Rauch, Bernd Wollnik, Friedrich Strasser, Thomas S. Reese, Cornelis Jakobs, G Kurlemann, Antonio Cao, Peter Nürnberg, Frank Rutsch
Έκδοση 2007Artigo -
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Common variants in the SLCO1B3 locus are associated with bilirubin levels and unconjugated hyperbilirubinemia από Serena Sanna, Fabio Busonero, Andrea Maschio, Patrick F. McArdle, Gianluca Usala, Mariano Dei, Sandra Lai, Antonella Mulas, Maria Grazia Piras, Lucia Perseu, Marco Masala, Mara Marongiu, Laura Crisponi, Silvia Naitza, Renzo Galanello, Gonçalo R. Abecasis, Alan R. Shuldiner, David Schlessinger, Antonio Cao, Manuela Uda
Έκδοση 2009Artigo -
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Novel ANKRD11 gene mutation in an individual with a mild phenotype of KBG syndrome associated to a GEFS+ phenotypic spectrum: a case report από Rita Maria Alves, Paolo Uva, Marielza Veiga, Manuela Oppo, Fabiana C. R. Zschaber, Giampiero Porcu, Henrique P. Porto, Ivana Persico, Stefano Onano, Gianmauro Cuccuru, Rossano Atzeni, Lauro C. N. Vieira, Marcos V. A. Pires, Francesco Cucca, Maria Betânia Pereira Toralles, Andrea Angius, Laura Crisponi
Έκδοση 2019Artigo -
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The GLUT9 Gene Is Associated with Serum Uric Acid Levels in Sardinia and Chianti Cohorts από Siguang Li, Serena Sanna, Andrea Maschio, Fabio Busonero, Gianluca Usala, Antonella Mulas, Sandra Lai, Mariano Dei, Marco Orrù, Giuseppe Albai, Stefania Bandinelli, David Schlessinger, Edward G. Lakatta, Angelo Scuteri, Samer S. Najjar, Jack M. Guralnik, Silvia Naitza, Laura Crisponi, Antonio Cao, Gonçalo R. Abecasis, Luigi Ferrucci, Manuela Uda, Wei-Min Chen, Ramaiah Nagaraja
Έκδοση 2007Artigo -
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Genome-wide association study shows <i>BCL11A</i> associated with persistent fetal hemoglobin and amelioration of the phenotype of β-thalassemia από Manuela Uda, Renzo Galanello, Serena Sanna, Guillaume Lettre, Vijay G. Sankaran, Wei‐Min Chen, Gianluca Usala, Fabio Busonero, Andrea Maschio, Giuseppe Albai, Maria Grazia Piras, Natascia Sestu, Sandra Lai, Mariano Dei, Antonella Mulas, Laura Crisponi, Silvia Naitza, Isadora Asunis, Manila Deiana, Ramaiah Nagaraja, Lucia Perseu, Stefania Satta, Maria Dolores Cipollina, Carla Sollaino, Paolo Moi, Joel N. Hirschhorn, Stuart H. Orkin, Gonçalo R. Abecasis, David Schlessinger, Antonio Cao
Έκδοση 2008Artigo -
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Phosphodiesterase 8B Gene Variants Are Associated with Serum TSH Levels and Thyroid Function από L. Arnaud‐López, Gianluca Usala, Graziano Ceresini, Braxton D. Mitchell, Maria Grazia Pilia, Maria Grazia Piras, Natascia Sestu, Andrea Maschio, Fabio Busonero, Giuseppe Albai, Mariano Dei, Sandra Lai, Antonella Mulas, Laura Crisponi, Toshiko Tanaka, Stefania Bandinelli, Jack M. Guralnik, Angela Loi, Lenuta Balaci, Gabriella Sole, Alessia Prinzis, Stefano Mariotti, Alan R. Shuldiner, Antonio Cao, David Schlessinger, Manuela Uda, Gonçalo R. Abecasis, Ramaiah Nagaraja, Serena Sanna, Silvia Naitza
Έκδοση 2008Artigo -
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A Genome-Wide Association Scan on the Levels of Markers of Inflammation in Sardinians Reveals Associations That Underpin Its Complex Regulation από Silvia Naitza, Eleonora Porcu, Maristella Steri, Dennis D. Taub, Antonella Mulas, Xiang Xiao, James Strait, Mariano Dei, Sandra Lai, Fabio Busonero, Andrea Maschio, Gianluca Usala, Magdalena Żołędziewska, Carlo Sidore, Ilenia Zara, Maristella Pitzalis, Alessia Loi, Francesca Virdis, Roberta Piras, Francesca Deidda, Michael B. Whalen, Laura Crisponi, Antonio Concas, Carlo Podda, Sergio Uzzau, Paul Scheet, Dan L. Longo, Edward G. Lakatta, Gonçalo R. Abecasis, Antonio Cao, David Schlessinger, Manuela Uda, Serena Sanna, Francesco Cucca
Έκδοση 2012Artigo -
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Common variants in the GDF5-UQCC region are associated with variation in human height από Serena Sanna, Anne Jackson, Ramaiah Nagaraja, Cristen J. Willer, Wei‐Min Chen, Lori L. Bonnycastle, Haiqing Shen, Nicholas J. Timpson, Guillaume Lettre, Gianluca Usala, Peter S. Chines, Heather M. Stringham, Laura J. Scott, Mariano Dei, Sandra Lai, Giuseppe Albai, Laura Crisponi, Silvia Naitza, Kimberly F. Doheny, Elizabeth Pugh, Yoav Ben‐Shlomo, Shah Ebrahim, Debbie A. Lawlor, Richard N. Bergman, Richard M. Watanabe, Manuela Uda, Jaakko Tuomilehto, Josef Coresh, Joel N. Hirschhorn, Alan R. Shuldiner, David Schlessinger, Francis S. Collins, George Davey Smith, Eric Boerwinkle, Antonio Cao, Michael Boehnke, Gonçalo R. Abecasis, Karen L. Mohlke
Έκδοση 2008Revisão -
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IRAK-M Is Involved in the Pathogenesis of Early-Onset Persistent Asthma από Lenuta Balaci, Maria Cristina Spada, Nazario Olla, Gabriella Sole, Laura Loddo, Francesca Anedda, Silvia Naitza, Maria Antonietta Zuncheddu, Andrea Maschio, Daniele Altea, Manuela Uda, Sabrina Pilia, Serena Sanna, Marco Masala, Laura Crisponi, Matilde Fattori, Marcella Devoto, Silvia Doratiotto, Stefania Rassu, S Mereu, Enrico Giua, Natalina Graziella Cadeddu, Roberto Atzeni, Umberto Pelosi, A Corrias, Roberto Perra, Pier Luigi Torrazza, Pietro Pirina, Francesco Ginesu, Silvano Marcias, Maria Grazia Schintu, Del Giacco Gs, Paolo Emilio Manconi, Giovanni Malerba, Andrea Bisognin, Elisabetta Trabetti, Attilio Boner, Lydia Pescollderungg, Pier Franco Pignatti, David Schlessinger, Antonio Cao, Giuseppe Pilia
Έκδοση 2007Artigo -
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Common variants at ten loci modulate the QT interval duration in the QTSCD Study από Arne Pfeufer, Serena Sanna, Dan E. Arking, Martina Müller‐Nurasyid, Vesela Gateva, Christian Fuchsberger, Georg Ehret, Marco Orr, Cristian Pattaro, Anna Köttgen, Siegfried Perz, Gianluca Usala, Maja Barbalić, Man Li, Benno Pütz, Angelo Scuteri, Ronald J. Prineas, Moritz F. Sinner, Christian Gieger, Samer S. Najjar, W.H. Linda Kao, Hae‐Won Uh, Mariano Dei, Christine Happle, Stefan Möhlenkamp, Laura Crisponi, Raimund Erbel, Karl Heinz Jöckel, Silvia Naitza, Gerhard Steinbeck, Fabio Marroni, Andrew A. Hicks, Edward G. Lakatta, Bertram Müller‐Myhsok, Peter P. Pramstaller, H.-Erich Wichmann, David Schlessinger, Eric Boerwinkle, Thomas Meitinger, Manuela Uda, Josef Coresh, Stefan Kääb, Gonçalo R. Abecasis, Aravinda Chakravarti
Έκδοση 2009Artigo -
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Association of Adiposity Genetic Variants With Menarche Timing in 92,105 Women of European Descent από Lindsay Fernández‐Rhodes, Ellen W. Demerath, Diana L. Cousminer, Ran Tao, Jill Dreyfus, Tõnu Esko, Albert V. Smith, Vilmundur Guðnason, Tamara B. Harris, Lenore J. Launer, Patrick F. McArdle, L.M. Yerges-Armstrong, Cathy E. Elks, David P. Strachan, Zoltán Kutalik, Péter Vollenweider, Bjarke Feenstra, Heather A. Boyd, Andres Metspalu, Evelin Mihailov, Linda Broer, M. Carola Zillikens, B. A. Oostra, Cornelia M. van Duijn, Kathryn L. Lunetta, John R. B. Perry, Anna Murray, Daphne Koller, Dongbing Lai, Tanguy Corre, Daniela Toniolo, Eva Albrecht, Doris Stöckl, H. Grallert, Christian Gieger, Caroline Hayward, Ozren Polašek, Igor Rudan, James F. Wilson, Chunyan He, Peter Kraft, Joshua Shulman, David J. Hunter, Jouke‐Jan Hottenga, Gonneke Willemsen, Dorret I. Boomsma, Enda M. Byrne, Nicholas G. Martin, Grant W. Montgomery, Nicole M. Warrington, Craig E. Pennell, Lisette Stolk, Jenny A. Visser, A. Hofman, André G. Uitterlinden, Fernando Rivadeneira, Ping Lin, Stewart L. Fisher, Laura J. Bierut, Laura Crisponi, E. Porcu, Massimo Mangino, Guanghua Zhai, Tim D. Spector, Julie E. Buring, Lynda M. Rose, Paul M. Ridker, Charles Poole, J. N. Hirschhorn, Joanne M. Murabito, Daniel I. Chasman, Elisabeth Widén, K. E. North, Ken K. Ong, Nora Franceschini
Έκδοση 2013Revisão -
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Variants in MTNR1B influence fasting glucose levels από Inga Prokopenko, Claudia Langenberg, José C. Florez, Richa Saxena, Nicole Soranzo, Guðmar Þorleifsson, Ruth J. F. Loos, Man Li, Anne Jackson, Yurii S. Aulchenko, Simon Potter, Michael R. Erdos, Serena Sanna, Jouke‐Jan Hottenga, Eleanor Wheeler, Marika Kaakinen, Valeriya Lyssenko, Wei‐Min Chen, Kourosh R. Ahmadi, J. Beckmann, Richard N. Bergman, Murielle Bochud, Lori L. Bonnycastle, Thomas A. Buchanan, Antonio Cao, Alessandra Cervino, Lachlan Coin, Francis S. Collins, Laura Crisponi, Eco J. C. de Geus, Abbas Dehghan, Panos Deloukas, Alex S. F. Doney, Paul Elliott, Nelson Freimer, Vesela Gateva, Christian Herder, Albert Hofman, Thomas E. Hughes, Sarah Hunt, Thomas Illig, Michael Inouye, Bo Isomaa, Toby Johnson, Augustine Kong, Maria Krestyaninova, Johanna Kuusisto, Markku Laakso, Noha Lim, Ulf Lindblad, Cecilia M. Lindgren, Owen T McCann, Karen L. Mohlke, Andrew D. Morris, Silvia Naitza, Marco Orrù, Colin N. A. Palmer, Anneli Pouta, Joshua C. Randall, Wolfgang Rathmann, Jouko Saramies, Paul Scheet, Laura J. Scott, Angelo Scuteri, Stephen J. Sharp, Eric J.G. Sijbrands, Johannes H. Smit, Kijoung Song, Valgerður Steinthórsdóttir, Heather M. Stringham, Jaakko Tuomilehto, Jaakko Tuomilehto, André G. Uitterlinden, Benjamin F. Voight, Dawn Waterworth, H‐Erich Wichmann, Gonneke Willemsen, Jacqueline C.M. Witteman, Xin Yuan, Wei Zhao, Eleftheria Zeggini, David Schlessinger, Manjinder S. Sandhu, Dorret I. Boomsma, Manuela Uda, Tim D. Spector, Brenda W.J.H. Penninx, David Altshuler, Péter Vollenweider, Marjo‐Riitta Järvelin, Edward G. Lakatta, Gérard Waeber, Caroline S. Fox, Leena Peltonen, Leif Groop, Vincent Mooser, L. Adrienne Cupples, Unnur Þorsteinsdóttir, Michael Boehnke, Inês Barroso
Έκδοση 2008Artigo -
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Rare coding variants and X-linked loci associated with age at menarche από Kathryn L. Lunetta, Felix R. Day, Patrick Sulem, Katherine S. Ruth, Joyce Y. Tung, David A. Hinds, Tõnu Esko, Cathy E. Elks, Elisabeth Altmaier, Chunyan He, Jennifer E. Huffman, Evelin Mihailov, Eleonora Porcu, Antonietta Robino, Lynda M. Rose, Ursula M. Schick, Lisette Stolk, Alexander Teumer, Deborah J. Thompson, Michela Traglia, Carol A. Wang, Laura M. Yerges-Armstrong, Antonis C. Antoniou, Caterina Barbieri, Andrea D. Coviello, Francesco Cucca, Ellen W. Demerath, Alison M. Dunning, Ilaria Gandin, Megan L. Grove, Daníel F. Guðbjartsson, Lynne J. Hocking, Albert Hofman, Jinyan Huang, Rebecca D. Jackson, David Karasik, Jennifer Kriebel, Ethan M. Lange, Leslie A. Lange, Claudia Langenberg, Xin Li, Jian’an Luan, Reedik Mägi, Alanna C. Morrison, Sandosh Padmanabhan, Ailith Pirie, Ozren Polašek, David J. Porteous, Alex P. Reiner, Fernando Rivadeneira, Igor Rudan, Cinzia Sala, David Schlessinger, Robert A. Scott, Doris Stöckl, Jenny A. Visser, Uwe Völker, Diego Vozzi, James G. Wilson, Marek Zygmunt, Nita G. Forouhi, Nicola D. Kerrison, Stephen J. Sharp, Matt Sims, Inês Barroso, Panos Deloukas, Mark I. McCarthy, Larraitz Arriola, Beverley Balkau, Aurelio Barricarte, Heiner Boeing, Paul W. Franks, Carlos A. González, Sara Grioni, Rudolf Kaaks, Timothy J. Key, Carmen Navarro, Peter M. Nilsson, Kim Overvad, Domenico Palli, Salvatore Panico, J. Ramón Quirós, Olov Rolandsson, Carlotta Sacerdote, María‐José Sánchez, Nadia Slimani, Anne Tjønneland, Rosario Tumino, Daphne L. van der A, Yvonne T. van der Schouw, Elio Ríboli, Blair H. Smith, Archie Campbell, Ian J. Deary, Andrew M. McIntosh, Eric Boerwinkle, Julie E. Buring, Laura Crisponi, Douglas F. Easton, Caroline Hayward
Έκδοση 2015Artigo -
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New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk από Josée Dupuis, Claudia Langenberg, Inga Prokopenko, Richa Saxena, Nicole Soranzo, Anne Jackson, Eleanor Wheeler, Nicole L. Glazer, Nabila Bouatia‐Naji, Anna L. Gloyn, Cecilia M. Lindgren, Reedik Mägi, Andrew P. Morris, Joshua C. Randall, Toby Johnson, Paul Elliott, Denis Rybin, Guðmar Þorleifsson, Valgerður Steinthórsdóttir, Peter Henneman, Harald Grallert, Abbas Dehghan, Jouke‐Jan Hottenga, C. Franklin, Pau Navarro, Kijoung Song, Anuj Goel, John R. B. Perry, Josephine M. Egan, Taina K. Lajunen, Niels Grarup, Thomas Sparsø, Alex S. F. Doney, Benjamin F. Voight, Heather M. Stringham, Man Li, Stavroula Kanoni, Peter Shrader, Christine Cavalcanti-Proença, Meena Kumari, Lu Qi, Nicholas J. Timpson, Christian Gieger, Katja K.H. Aben, Ghislain Rocheleau, Erik Ingelsson, Ping An, Jeffrey R. O’Connell, Jian’an Luan, Amanda Elliott, Steven A. McCarroll, Felicity Payne, Rosa Maria Roccasecca, François Pattou, Praveen Sethupathy, Kristin Ardlie, Yavuz Ariyürek, Beverley Balkau, Philip J. Barter, John Beilby, Yoav Ben‐Shlomo, Rafn Benediktsson, Amanda J. Bennett, Richard N. Bergman, Murielle Bochud, Eric Boerwinkle, Amélie Bonnefond, Lori L. Bonnycastle, Knut Borch‐Johnsen, Yvonne Böttcher, Eric J. Brunner, Suzannah J. Bumpstead, G. Charpentier, Yii‐Der Ida Chen, Peter S. Chines, Robert Clarke, Lachlan Coin, Matthew N. Cooper, Marilyn C. Cornelis, Gabe Crawford, Laura Crisponi, Ian N.M. Day, Eco J. C. de Geus, Jérôme Delplanque, Christian Dina, Michael R. Erdos, Annette C. Fedson, Antje Fischer-Rosinský, Nita G. Forouhi, Caroline S. Fox, Rune R. Frants, Maria Grazia Franzosi, Pilar Galán, Mark O. Goodarzi, J. Graessler, Christopher J. Groves, Scott M. Grundy, Rhian Gwilliam, Ulf Gyllensten, Samy Hadjadj
Έκδοση 2010Artigo -
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Genomic analyses identify hundreds of variants associated with age at menarche and support a role for puberty timing in cancer risk από Felix R. Day, Deborah J. Thompson, Hannes Helgason, Daniel I. Chasman, Hilary K. Finucane, Patrick Sulem, Katherine S. Ruth, Sean Whalen, Abhishek Sarkar, Eva Albrecht, Elisabeth Altmaier, Marzyeh Amini, Caterina Barbieri, Thibaud Boutin, Archie Campbell, Ellen W. Demerath, Ayush Giri, Chunyan He, Jouke‐Jan Hottenga, Robert Karlsson, Ivana Kolčić, Po‐Ru Loh, Kathryn L. Lunetta, Massimo Mangino, Marco Brumat, George McMahon, Sarah E. Medland, Ilja M. Nolte, Raymond Noordam, Teresa Nutile, Lavinia Paternoster, Natalia Perjakova, Eleonora Porcu, Lynda M. Rose, Katharina E. Schraut, Ayellet V. Segrè, Albert V. Smith, Lisette Stolk, Alexander Teumer, Irene L. Andrulis, Stefania Bandinelli, Matthias W. Beckmann, Javier Benı́tez, Sven Bergmann, Murielle Bochud, Eric Boerwinkle, Stig E. Bojesen, Manjeet K. Bolla, Judith S. Brand, Hiltrud Brauch, Hermann Brenner, Linda Broer, Thomas Brüning, Julie E. Buring, Harry Campbell, Eulalia Catamo, Stephen J. Chanock, Georgia Chenevix‐Trench, Tanguy Corre, Fergus J. Couch, Diana L. Cousminer, Angela Cox, Laura Crisponi, Kamila Czene, George Davey Smith, Eco J. C. de Geus, Renée de Mutsert, Immaculata De Vivo, Joe Dennis, Peter Devilee, Isabel dos–Santos–Silva, Alison M. Dunning, Johan G. Eriksson, Peter A. Fasching, Lindsay Fernández‐Rhodes, Luigi Ferrucci, Dieter Flesch‐Janys, Lude Franke, Marike Gabrielson, Ilaria Gandin, Graham G. Giles, Harald Grallert, Daníel F. Guðbjartsson, Pascal Guénel, Per Hall, Emily Hallberg, Ute Hamann, Tamara B. Harris, Catharina A. Hartman, Gerardo Heiss, Maartje J. Hooning, John L. Hopper, Frank B. Hu, David J. Hunter, M. Arfan Ikram, Hae Kyung Im, Marjo‐Riitta Järvelin, Peter K. Joshi, David Karasik, Manolis Kellis
Έκδοση 2017Artigo
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