CAO, ANTONIO
CAO, ANTONIO
Istituto di Ricerca Genetica e Biomedica - IRGB
Different switching patterns of beta-thalassaemic mutations at the proximal and distal CACCC box of the human HBB (beta-globin) gene
2015 Marongiu M.F.; Porcu S.; Poddie D.; Drabek D.; De Wit T.; Cao A.; Ristaldi M.S.
A synonymous mutation in the CFTR gene causes an aberrant splicing in an Italian patient affected by a mild form of cystic fibrosis.
2010 Faa, Valeria; Coiana, Alessandra; Incani, Federica; Costantino, Lucy; Cao, Antonio; Cristina Rosatelli, Maria
Alpha globin gene duplications in beta thalassemia patients with intact beta globin gene.
2010 Faa', Valeria; Masala, Maddalena; Cao, Antonio; Cristina Rosatelli, M
Common variants at ten genomic loci influence hemoglobin A1C levels via glycemic and non-glycemic pathways.
2010 Soranzo, Nicole; Sanna, Serena; Wheeler, Eleanor; Gieger, Christian; Radke, Dörte; Dupuis, Josée; Bouatianaji, Nabila; Langenberg, Claudia; Prokopenko, Inga; Stolerman, Elliot; S Sandhu, Manjinder; M Heeney, Matthew; M Devaney, Joseph; P Reilly, Muredach; L Ricketts, Sally; FR Stewart, Alexandre; F Voight, Benjamin; Willenborg, Christina; Wright, Benjamin; Altshuler, David; Arking, Dan; Balkau, Beverley; Barnes, Daniel; Boerwinkle, Eric; Böhm, Bernhard; Bonnefond, Amélie; L Bonnycastle, Lori; I Boomsma, Dorret; R Bornstein, Stefan; Böttcher, Yvonne; Bumpstead, Suzannah; Susan BurnettMiller, Mary; Campbell, Harry; Cao, Antonio; Chambers, John; Clark, Robert; S Collins, Francis; Coresh, Josef; JC de Geus, Eco; Dei, Mariano; Deloukas, Panos; Döring, Angela; M Egan, Josephine; Elosua, Roberto; Ferrucci, Luigi; Forouhi, Nita; S Fox, Caroline; Franklin, Christopher; Grazia Franzosi, Maria; Gallina, Sophie; Goel, Anuj; Graessler, Jürgen; Grallert, Harald; Greinacher, Andreas; Hadley, David; Hall, Alistair; Hamsten on behalf of Procardis Consortium, Anders; Hayward, Caroline; Heath, Simon; Herder, Christian; Homuth, Georg; Hottenga, Joukejan; Huntermerrill, Rachel; Illig, Thomas; U Jackson, Anne; Jula, Antti; Kleber, Marcus; W Knouff, Christopher; Kong, Augustine; Kooner, Jaspal; Köttgen, Anna; Kovacs, Peter; Krohn, Knut; Kühnel, Brigitte; Kuusisto, Johanna; Laakso, Markku; Lathrop, Mark; Lecoeur, Cécile; Li, Man; Li, Mingyao; JF Loos, Ruth; Luan, Jian'An; Lyssenko, Valeriya; Mägi, Reedik; KE Magnusson, Patrik; Mälarstig, Anders; Mangino, Massimo; Teresa MartínezLarrad, María; März, Winfried; L McArdle, Wendy; Mcpherson, Ruth; Meisinger, Christa; Meitinger, Thomas; Melander, Olle; L Mohlke, Karen; E Mooser, Vincent; A Morken, Mario; Narisu, Narisu; M Nathan, David; Nauck, Matthias; O'Donnell, Chris; Oexle, Konrad; Olla, Nazario; S Pankow, James; Payne, Felicity; F Peden, John; L Pedersen, Nancy; Peltonen, Leena; Perola, Markus; Polasek, Ozren; Porcu, Eleonora; J Rader, Daniel; Rathmann, Wolfgang; Ripatti, Samuli; Rocheleau, Ghislain; Roden, Michael; Rudan, Igor; Salomaa, Veikko; Saxena, Richa; Schlessinger, David; Schunkert, Heribert; Schwarz, Peter; Seedorf, Udo; Selvin, Elizabeth; Serranoríos, Manuel; Shrader, Peter; Silveira, Angela; Siscovick, David; Song, Kjioung; D Spector, Timothy; Stefansson, Kari; Steinthorsdottir, Valgerdur; P Strachan, David; Strawbridge, Rona; Stumvoll, Michael; Surakka, Ida; J Swift, Amy; Tanaka, Toshiko; Teumer, Alexander; Thorleifsson, Gudmar; Thorsteinsdottir, Unnur; Tönjes, Anke; Usala, Gianluca; Vitart, Veronique; Völzke, Henry; Wallaschofski, Henri; M Waterworth, Dawn; Watkins, Hugh; Wichmann, Herich; H Wild, Sarah; Willemsen, Gonneke; H Williams, Gordon; F Wilson, James; Winkelmann, Juliane; F Wright, Alan; Wtccc, ; Zabena, Carina; Hua Zhao, Jing; E Epstein, Stephen; Erdmann, Jeanette; H Hakonarson, Hakon; Kathiresan, Sekar; Khaw, Kaytee; Roberts, Robert; J Samani, Nilesh; D Fleming, Mark; Sladek, Robert; Abecasis, Gonçalo; Boehnke, Michael; Froguel, Philippe; Groop, Leif; I McCarthy, Mark; Linda Kao, Wh; C Florez, Jose; Uda, Manuela; J Wareham, Nicholas; Barroso, Inês; B Meigs, James
The forkhead transcription factor Foxl2 is sumoylated in both human and mouse: sumoylation affects its stability, localization, and activity.
2010 Mara Marongiu,; Manila Deiana,; Alessandra Meloni,; Loredana Marcia,; Alessandro Puddu,,; Antonio Cao,; David Schlessinger,; Laura Crisponi
Characterization of a disease-associated mutation affecting a putative splicing regulatory element in intron 6b of the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene
2009 Faa, Valeria; Incani, Federica; Meloni, Alessandra; Corda, Denise; Masala, Maddalena; Baffico, Amaria; Seia, Manuela; Cao, Antonio; Rosatelli, Mcristina
Common variants in the SLCO1B3 locus are associated with bilirubin levels and unconjugated hyperbilirubinemia
2009 Sanna, Serena; Busonero, Fabio; Maschio, Andrea; F McArdle, Patrick; Usala, Gianluca; Dei, Mariano; Lai, Sandra; Mulas, Antonella; Piras, MARIA GRAZIA; Perseu, Lucia; Masala, Marco; Marongiu, Mara; Crisponi, Laura; Naitza, Silvia; Galanello, Renzo; R Abecasis, Gonçalo; R Shuldiner, Alan; Schlessinger, David; Cao, Antonio; Uda, Manuela
Variants in MTNR1B influence fasting glucose levels
2009 Prokopenko, Inga; Langenberg, Claudia; C Florez, Jose; Saxena, Richa; Soranzo, Nicole; Thorleifsson, Gudmar; JF Loos, Ruth; K Manning, Alisa; U Jackson, Anne; Aulchenko, Yurii; C Potter, Simon; R Erdos, Michael; Sanna, Serena; Hottenga, Joukejan; Wheeler, Eleanor; Kaakinen, Marika; Lyssenko, Valeriya; Chen, Weimin; Ahmadi, Kourosh; S Beckmann, Jacques; N Bergman, Richard; Bochud, Murielle; L Bonnycastle, Lori; A Buchanan, Thomas; Cao, Antonio; Cervino, Alessandra; Coin, Lachlan; S Collins, Francis; Crisponi, Laura; JC de Geus, Eco; Dehghan, Abbas; Deloukas, Panos; F Doney, Alex S; Elliott, Paul; Freimer, Nelson; Gateva, Vesela; Herder, Christian; Hofman, Albert; E Hughes, Thomas; Hunt, Sarah; Illig, Thomas; Inouye, Michael; Isomaa, Bo; Johnson, Toby; Kong, Augustine; Krestyaninova, Maria; Kuusisto, Johanna; Laakso, Markku; Lim, Noha; Lindblad, Ulf; M Lindgren, Cecilia; T McCann, Owen; L Mohlke, Karen; D Morris, Andrew; Naitza, Silvia; Orrù, Marco; A Palmer, Colin N; Pouta, Anneli; Randall, Joshua; Rathmann, Wolfgang; Saramies, Jouko; Scheet, Paul; J Scott, Laura; Scuteri, Angelo; Sharp, Stephen; Sijbrands, Eric; H Smit, Jan; Song, Kijoung; Steinthorsdottir, Valgerdur; M Stringham, Heather; Tuomi, Tiinamaija; Tuomilehto, Jaakko; G Uitterlinden, André; F Voight, Benjamin; Waterworth, Dawn; Wichmann, Herich; Willemsen, Gonneke; CM Witteman, Jacqueline; Yuan, Xin; Hua Zhao, Jing; Zeggini, Eleftheria; Schlessinger, David; Sandhu, Manjinder; I Boomsma, Dorret; Uda, Manuela; D Spector, Tim; WJH Penninx, Brenda; Altshuler, David; Vollenweider, Peter; Riitta Jarvelin, Marjo; Lakatta, Edward; Waeber, Gerard; S Fox, Caroline; Peltonen, Leena; C Groop, Leif; Mooser, Vincent; Adrienne Cupples, L; Thorsteinsdottir, Unnur; Boehnke, Michael; Barroso, Inês; Van Duijn, Cornelia; Dupuis, Josée; M Watanabe, Richard; Stefansson, Kari; I McCarthy, Mark; J Wareham, Nicholas; B Meigs, James; R Abecasis, Goncalo; the MAGIC investigators, For
A mutation in the TMPRSS6 gene, encoding a transmembrane serine protease that suppresses hepcidin production, in familial iron deficiency anemia refractory to oral iron.
2008 Maria Antonietta Melis; Milena Cau; Rita Congiu; Gabriella Sole; Susanna Barella; Antonio Cao; Mark Westerman; Mario Cazzola; Renzo Galanello
Common variants in the GDF5-BFZB region are associated with variation in human height.
2008 Sanna, Serena; U Jackson, Anne; Nagaraja, Ramaiah; J Willer, Cristen; Chen, Weimin; L Bonnycastle, Lori; Shen, Haiqing; Timpson, Nicholas; Lettre, Guillaume; Usala, Gianluca; S Chines, Peter; M Stringham, Heather; Dei, Mariano; Lai, Sandra; Albai, Giuseppe; Crisponi, Laura; Naitza, Silvia; F Doheny, Kimberly; W Pugh, Elizabeth; Benshlomo, Yoav; Ebrahim, Shah; A Lawlor, Debbie; N Bergman, Richard; M Watanabe, Richard; Uda, Manuela; Tuomilehto, Jaakko; Coresh, Josef; N Hirschhorn, Joel; R Shuldiner, Alan; Schlessinger, David; S Collins, Francis; Davey Smith, George; Boerwinkle, Eric; Cao, Antonio; Boehnke, Michael; R Abecasis, Gonçalo; L Mohlke, Karen
Disequilibrium extension analysis on the Xq13 region in Corsica
2008 V. Latini; G. Sole; L. Varesi; G. Vona; A. Cao; M.S. Ristaldi
Genome-wide association study shows BCL11A associated with persistent fetal hemoglobin and amelioration of the phenotype of beta-thalassemia.
2008 Manuela Uda; Renzo Galanello; Serena Sanna; Guillaume Lettre; Vijay G. Sankaran; Weimin 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
Linkage Disequilibrium extension analysis on the Xq13 region in the island of Corsica
2008 Veronica Latini; Gabriella Sole; Laurent Varesi; Giuseppe Vona; Antonio Cao; Maria Serafina Ristaldi
Neonatal onset of nephrogenic syndrome of inappropriate antidiuresis
2008 Marcialis, Ma; Faà, V; Fanos, V; Puddu, M; Pintus, Mc; Cao, A; Rosatelli, Mc
Newly identified loci that influence lipid concentrations and risk of coronary artery disease
2008 Cristen J Willer; Serena Sanna,,; Anne U Jackson; Angelo Scuteri,; Lori L Bonnycastle;Robert Clarke; Simon C Heath; Nicholas J Timpson; Samer S Najjar; Heather M Stringham; James Strait; William L Duren; Andrea Maschio; Fabio Busonero; Antonella Mulas; Giuseppe Albai; Amy J Swift; Mario A Morken; Narisu Narisu; Derrick Bennett; Sarah Parish; Haiqing Shen; Pilar Galan;Pierre Meneton; Serge Hercberg; Diana Zelenika; WeiMin Chen; Yun Li; Laura J Scott; Paul A Scheet; Jouko Sundvall; Richard M Watanabe,; Ramaiah Nagaraja; Shah Ebrahim; Debbie A Lawlor; Yoav BenShlomo; George DaveySmith; Alan R Shuldiner; Rory Collins; Richard N Bergman; Manuela Uda; Jaakko Tuomilehto; Antonio Cao; Francis S Collins; Edward Lakatta; G Mark Lathrop; Michael Boehnke; David Schlessinger; Karen L Mohlke; Goncalo R Abecasis
Role of PHD fingers and COOH-terminal 30 amino acids in AIRE transactivation activity
2008 Meloni, A; Incani, F; Corda, D; Cao, A; Rosatelli, Mc
Variants in MNTR1B influence fasting glucose levels
2008 Prokopenko, Inga; Langenberg, Claudia; C Florez, Jose; Saxena, Richa; Soranzo, Nicole; Thorleifsson, Gudmar; F Loos, Ruth J; K Manning, Alisa; U Jackson, Anne; Aulchenko, Yurii; C Potter, Simon; R Erdos, Michael; Sanna, Serena; Hottenga, Joukejan; Wheeler, Eleanor; Kaakinen, Marika; Lyssenko, Valeriya; Chen, Weimin; Ahmadi, Kourosh; S Beckmann, Jacques; N Bergman, Richard; Bochud, Murielle; L Bonnycastle, Lori; A Buchanan, Thomas; Cao, Antonio; Cervino, Alessandra; Coin, Lachlan; S Collins, Francis; Crisponi, Laura; C de Geus, Eco J; Dehghan, Abbas; Deloukas, Panos; F Doney, Alex S; Elliott, Paul; Freimer, Nelson; Gateva, Vesela; Herder, Christian; Hofman, Albert; E Hughes, Thomas; Hunt, Sarah; Illig, Thomas; Inouye, Michael; Isomaa, Bo; Johnson, Toby; Kong, Augustine; Krestyaninova, Maria; Kuusisto, Johanna; Laakso, Markku; Lim, Noha; Lindblad, Ulf; M Lindgren, Cecilia; T McCann, Owen; L Mohlke, Karen; D Morris, Andrew; Naitza, Silvia; Orrù, Marco; A Palmer, Colin N; Pouta, Anneli; Randall, Joshua; Rathmann, Wolfgang; Saramies, Jouko; Scheet, Paul; J Scott, Laura; Scuteri, Angelo; Sharp, Stephen; Sijbrands, Eric; H Smit, Jan; Song, Kijoung; Steinthorsdottir, Valgerdur; M Stringham, Heather; Tuomi, Tiinamaija; Tuomilehto, Jaakko; G Uitterlinden, André; F Voight, Benjamin; Waterworth, Dawn; Wichmann, Herich; Willemsen, Gonneke; M Witteman, Jacqueline C; Yuan, Xin; Hua Zhao, Jing; Zeggini, Eleftheria; Schlessinger, David; Sandhu, Manjinder; I Boomsma, Dorret; Uda, Manuela; D Spector, Tim; WJH Penninx, Brenda; Altshuler, David; Vollenweider, Peter; Riitta Jarvelin, Marjo; Lakatta, Edward; Waeber, Gerard; S Fox, Caroline; Peltonen, Leena; C Groop, Leif; Mooser, Vincent; Adrienne Cupples, L; Thorsteinsdottir, Unnur; Boehnke, Michael; Barroso, Inês; Van Duijn, Cornelia; Dupuis, Josée; M Watanabe, Richard; Stefansson, Kari; I McCarthy, Mark; J Wareham, Nicholas; B Meigs, James; R Abecasis, Gonçalo
A new splicing mutation in CFTR gene
2007 V. Faa; A. Meloni; M. Masala; D. Corda; G. Ibba; F. Incani; A. Cao; M.C. Rosatelli
A novel interstitial deletion in Xq25, identified by array-CGH in a patient with Lowe syndrome
2007 Maria Addis; Cristiana Meloni; Rita Congiu; Simona Santaniello; Francesco Emma; Orsetta Zuffardi; Roberto Ciccone; Antonio Cao; Maria Antonietta Melis;and Milena Cau
Crisponi Syndrome is Caused by Mutations in the CRLF1 Gene and is Allelic to Cold-Induced Sweating Syndrome 1
2007 Crisponi L.; Crisponi G.; Meloni A.; Toliat M.R.; Nürnberg G.; Usala G.; Uda M.; Masala M.; Höhne W.; Becker C.; Marongiu M.; Chiappe F.; Kleta R.; Rauch A.; Wollnik B.; Strasser F.; Reese T.; Jakobs C.; Kurlemann G.; Cao A.; Nürnberg P.; Rutsch F
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| Different switching patterns of beta-thalassaemic mutations at the proximal and distal CACCC box of the human HBB (beta-globin) gene | 1-gen-2015 | Marongiu M.F.; Porcu S.; Poddie D.; Drabek D.; De Wit T.; Cao A.; Ristaldi M.S. | |
| A synonymous mutation in the CFTR gene causes an aberrant splicing in an Italian patient affected by a mild form of cystic fibrosis. | 1-gen-2010 | Faa, Valeria; Coiana, Alessandra; Incani, Federica; Costantino, Lucy; Cao, Antonio; Cristina Rosatelli, Maria | |
| Alpha globin gene duplications in beta thalassemia patients with intact beta globin gene. | 1-gen-2010 | Faa', Valeria; Masala, Maddalena; Cao, Antonio; Cristina Rosatelli, M | |
| Common variants at ten genomic loci influence hemoglobin A1C levels via glycemic and non-glycemic pathways. | 1-gen-2010 | Soranzo, Nicole; Sanna, Serena; Wheeler, Eleanor; Gieger, Christian; Radke, Dörte; Dupuis, Josée; Bouatianaji, Nabila; Langenberg, Claudia; Prokopenko, Inga; Stolerman, Elliot; S Sandhu, Manjinder; M Heeney, Matthew; M Devaney, Joseph; P Reilly, Muredach; L Ricketts, Sally; FR Stewart, Alexandre; F Voight, Benjamin; Willenborg, Christina; Wright, Benjamin; Altshuler, David; Arking, Dan; Balkau, Beverley; Barnes, Daniel; Boerwinkle, Eric; Böhm, Bernhard; Bonnefond, Amélie; L Bonnycastle, Lori; I Boomsma, Dorret; R Bornstein, Stefan; Böttcher, Yvonne; Bumpstead, Suzannah; Susan BurnettMiller, Mary; Campbell, Harry; Cao, Antonio; Chambers, John; Clark, Robert; S Collins, Francis; Coresh, Josef; JC de Geus, Eco; Dei, Mariano; Deloukas, Panos; Döring, Angela; M Egan, Josephine; Elosua, Roberto; Ferrucci, Luigi; Forouhi, Nita; S Fox, Caroline; Franklin, Christopher; Grazia Franzosi, Maria; Gallina, Sophie; Goel, Anuj; Graessler, Jürgen; Grallert, Harald; Greinacher, Andreas; Hadley, David; Hall, Alistair; Hamsten on behalf of Procardis Consortium, Anders; Hayward, Caroline; Heath, Simon; Herder, Christian; Homuth, Georg; Hottenga, Joukejan; Huntermerrill, Rachel; Illig, Thomas; U Jackson, Anne; Jula, Antti; Kleber, Marcus; W Knouff, Christopher; Kong, Augustine; Kooner, Jaspal; Köttgen, Anna; Kovacs, Peter; Krohn, Knut; Kühnel, Brigitte; Kuusisto, Johanna; Laakso, Markku; Lathrop, Mark; Lecoeur, Cécile; Li, Man; Li, Mingyao; JF Loos, Ruth; Luan, Jian'An; Lyssenko, Valeriya; Mägi, Reedik; KE Magnusson, Patrik; Mälarstig, Anders; Mangino, Massimo; Teresa MartínezLarrad, María; März, Winfried; L McArdle, Wendy; Mcpherson, Ruth; Meisinger, Christa; Meitinger, Thomas; Melander, Olle; L Mohlke, Karen; E Mooser, Vincent; A Morken, Mario; Narisu, Narisu; M Nathan, David; Nauck, Matthias; O'Donnell, Chris; Oexle, Konrad; Olla, Nazario; S Pankow, James; Payne, Felicity; F Peden, John; L Pedersen, Nancy; Peltonen, Leena; Perola, Markus; Polasek, Ozren; Porcu, Eleonora; J Rader, Daniel; Rathmann, Wolfgang; Ripatti, Samuli; Rocheleau, Ghislain; Roden, Michael; Rudan, Igor; Salomaa, Veikko; Saxena, Richa; Schlessinger, David; Schunkert, Heribert; Schwarz, Peter; Seedorf, Udo; Selvin, Elizabeth; Serranoríos, Manuel; Shrader, Peter; Silveira, Angela; Siscovick, David; Song, Kjioung; D Spector, Timothy; Stefansson, Kari; Steinthorsdottir, Valgerdur; P Strachan, David; Strawbridge, Rona; Stumvoll, Michael; Surakka, Ida; J Swift, Amy; Tanaka, Toshiko; Teumer, Alexander; Thorleifsson, Gudmar; Thorsteinsdottir, Unnur; Tönjes, Anke; Usala, Gianluca; Vitart, Veronique; Völzke, Henry; Wallaschofski, Henri; M Waterworth, Dawn; Watkins, Hugh; Wichmann, Herich; H Wild, Sarah; Willemsen, Gonneke; H Williams, Gordon; F Wilson, James; Winkelmann, Juliane; F Wright, Alan; Wtccc, ; Zabena, Carina; Hua Zhao, Jing; E Epstein, Stephen; Erdmann, Jeanette; H Hakonarson, Hakon; Kathiresan, Sekar; Khaw, Kaytee; Roberts, Robert; J Samani, Nilesh; D Fleming, Mark; Sladek, Robert; Abecasis, Gonçalo; Boehnke, Michael; Froguel, Philippe; Groop, Leif; I McCarthy, Mark; Linda Kao, Wh; C Florez, Jose; Uda, Manuela; J Wareham, Nicholas; Barroso, Inês; B Meigs, James | |
| The forkhead transcription factor Foxl2 is sumoylated in both human and mouse: sumoylation affects its stability, localization, and activity. | 1-gen-2010 | Mara Marongiu,; Manila Deiana,; Alessandra Meloni,; Loredana Marcia,; Alessandro Puddu,,; Antonio Cao,; David Schlessinger,; Laura Crisponi | |
| Characterization of a disease-associated mutation affecting a putative splicing regulatory element in intron 6b of the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene | 1-gen-2009 | Faa, Valeria; Incani, Federica; Meloni, Alessandra; Corda, Denise; Masala, Maddalena; Baffico, Amaria; Seia, Manuela; Cao, Antonio; Rosatelli, Mcristina | |
| Common variants in the SLCO1B3 locus are associated with bilirubin levels and unconjugated hyperbilirubinemia | 1-gen-2009 | Sanna, Serena; Busonero, Fabio; Maschio, Andrea; F McArdle, Patrick; Usala, Gianluca; Dei, Mariano; Lai, Sandra; Mulas, Antonella; Piras, MARIA GRAZIA; Perseu, Lucia; Masala, Marco; Marongiu, Mara; Crisponi, Laura; Naitza, Silvia; Galanello, Renzo; R Abecasis, Gonçalo; R Shuldiner, Alan; Schlessinger, David; Cao, Antonio; Uda, Manuela | |
| Variants in MTNR1B influence fasting glucose levels | 1-gen-2009 | Prokopenko, Inga; Langenberg, Claudia; C Florez, Jose; Saxena, Richa; Soranzo, Nicole; Thorleifsson, Gudmar; JF Loos, Ruth; K Manning, Alisa; U Jackson, Anne; Aulchenko, Yurii; C Potter, Simon; R Erdos, Michael; Sanna, Serena; Hottenga, Joukejan; Wheeler, Eleanor; Kaakinen, Marika; Lyssenko, Valeriya; Chen, Weimin; Ahmadi, Kourosh; S Beckmann, Jacques; N Bergman, Richard; Bochud, Murielle; L Bonnycastle, Lori; A Buchanan, Thomas; Cao, Antonio; Cervino, Alessandra; Coin, Lachlan; S Collins, Francis; Crisponi, Laura; JC de Geus, Eco; Dehghan, Abbas; Deloukas, Panos; F Doney, Alex S; Elliott, Paul; Freimer, Nelson; Gateva, Vesela; Herder, Christian; Hofman, Albert; E Hughes, Thomas; Hunt, Sarah; Illig, Thomas; Inouye, Michael; Isomaa, Bo; Johnson, Toby; Kong, Augustine; Krestyaninova, Maria; Kuusisto, Johanna; Laakso, Markku; Lim, Noha; Lindblad, Ulf; M Lindgren, Cecilia; T McCann, Owen; L Mohlke, Karen; D Morris, Andrew; Naitza, Silvia; Orrù, Marco; A Palmer, Colin N; Pouta, Anneli; Randall, Joshua; Rathmann, Wolfgang; Saramies, Jouko; Scheet, Paul; J Scott, Laura; Scuteri, Angelo; Sharp, Stephen; Sijbrands, Eric; H Smit, Jan; Song, Kijoung; Steinthorsdottir, Valgerdur; M Stringham, Heather; Tuomi, Tiinamaija; Tuomilehto, Jaakko; G Uitterlinden, André; F Voight, Benjamin; Waterworth, Dawn; Wichmann, Herich; Willemsen, Gonneke; CM Witteman, Jacqueline; Yuan, Xin; Hua Zhao, Jing; Zeggini, Eleftheria; Schlessinger, David; Sandhu, Manjinder; I Boomsma, Dorret; Uda, Manuela; D Spector, Tim; WJH Penninx, Brenda; Altshuler, David; Vollenweider, Peter; Riitta Jarvelin, Marjo; Lakatta, Edward; Waeber, Gerard; S Fox, Caroline; Peltonen, Leena; C Groop, Leif; Mooser, Vincent; Adrienne Cupples, L; Thorsteinsdottir, Unnur; Boehnke, Michael; Barroso, Inês; Van Duijn, Cornelia; Dupuis, Josée; M Watanabe, Richard; Stefansson, Kari; I McCarthy, Mark; J Wareham, Nicholas; B Meigs, James; R Abecasis, Goncalo; the MAGIC investigators, For | |
| A mutation in the TMPRSS6 gene, encoding a transmembrane serine protease that suppresses hepcidin production, in familial iron deficiency anemia refractory to oral iron. | 1-gen-2008 | Maria Antonietta Melis; Milena Cau; Rita Congiu; Gabriella Sole; Susanna Barella; Antonio Cao; Mark Westerman; Mario Cazzola; Renzo Galanello | |
| Common variants in the GDF5-BFZB region are associated with variation in human height. | 1-gen-2008 | Sanna, Serena; U Jackson, Anne; Nagaraja, Ramaiah; J Willer, Cristen; Chen, Weimin; L Bonnycastle, Lori; Shen, Haiqing; Timpson, Nicholas; Lettre, Guillaume; Usala, Gianluca; S Chines, Peter; M Stringham, Heather; Dei, Mariano; Lai, Sandra; Albai, Giuseppe; Crisponi, Laura; Naitza, Silvia; F Doheny, Kimberly; W Pugh, Elizabeth; Benshlomo, Yoav; Ebrahim, Shah; A Lawlor, Debbie; N Bergman, Richard; M Watanabe, Richard; Uda, Manuela; Tuomilehto, Jaakko; Coresh, Josef; N Hirschhorn, Joel; R Shuldiner, Alan; Schlessinger, David; S Collins, Francis; Davey Smith, George; Boerwinkle, Eric; Cao, Antonio; Boehnke, Michael; R Abecasis, Gonçalo; L Mohlke, Karen | |
| Disequilibrium extension analysis on the Xq13 region in Corsica | 1-gen-2008 | V. Latini; G. Sole; L. Varesi; G. Vona; A. Cao; M.S. Ristaldi | |
| Genome-wide association study shows BCL11A associated with persistent fetal hemoglobin and amelioration of the phenotype of beta-thalassemia. | 1-gen-2008 | Manuela Uda; Renzo Galanello; Serena Sanna; Guillaume Lettre; Vijay G. Sankaran; Weimin 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 | |
| Linkage Disequilibrium extension analysis on the Xq13 region in the island of Corsica | 1-gen-2008 | Veronica Latini; Gabriella Sole; Laurent Varesi; Giuseppe Vona; Antonio Cao; Maria Serafina Ristaldi | |
| Neonatal onset of nephrogenic syndrome of inappropriate antidiuresis | 1-gen-2008 | Marcialis, Ma; Faà, V; Fanos, V; Puddu, M; Pintus, Mc; Cao, A; Rosatelli, Mc | |
| Newly identified loci that influence lipid concentrations and risk of coronary artery disease | 1-gen-2008 | Cristen J Willer; Serena Sanna,,; Anne U Jackson; Angelo Scuteri,; Lori L Bonnycastle;Robert Clarke; Simon C Heath; Nicholas J Timpson; Samer S Najjar; Heather M Stringham; James Strait; William L Duren; Andrea Maschio; Fabio Busonero; Antonella Mulas; Giuseppe Albai; Amy J Swift; Mario A Morken; Narisu Narisu; Derrick Bennett; Sarah Parish; Haiqing Shen; Pilar Galan;Pierre Meneton; Serge Hercberg; Diana Zelenika; WeiMin Chen; Yun Li; Laura J Scott; Paul A Scheet; Jouko Sundvall; Richard M Watanabe,; Ramaiah Nagaraja; Shah Ebrahim; Debbie A Lawlor; Yoav BenShlomo; George DaveySmith; Alan R Shuldiner; Rory Collins; Richard N Bergman; Manuela Uda; Jaakko Tuomilehto; Antonio Cao; Francis S Collins; Edward Lakatta; G Mark Lathrop; Michael Boehnke; David Schlessinger; Karen L Mohlke; Goncalo R Abecasis | |
| Role of PHD fingers and COOH-terminal 30 amino acids in AIRE transactivation activity | 1-gen-2008 | Meloni, A; Incani, F; Corda, D; Cao, A; Rosatelli, Mc | |
| Variants in MNTR1B influence fasting glucose levels | 1-gen-2008 | Prokopenko, Inga; Langenberg, Claudia; C Florez, Jose; Saxena, Richa; Soranzo, Nicole; Thorleifsson, Gudmar; F Loos, Ruth J; K Manning, Alisa; U Jackson, Anne; Aulchenko, Yurii; C Potter, Simon; R Erdos, Michael; Sanna, Serena; Hottenga, Joukejan; Wheeler, Eleanor; Kaakinen, Marika; Lyssenko, Valeriya; Chen, Weimin; Ahmadi, Kourosh; S Beckmann, Jacques; N Bergman, Richard; Bochud, Murielle; L Bonnycastle, Lori; A Buchanan, Thomas; Cao, Antonio; Cervino, Alessandra; Coin, Lachlan; S Collins, Francis; Crisponi, Laura; C de Geus, Eco J; Dehghan, Abbas; Deloukas, Panos; F Doney, Alex S; Elliott, Paul; Freimer, Nelson; Gateva, Vesela; Herder, Christian; Hofman, Albert; E Hughes, Thomas; Hunt, Sarah; Illig, Thomas; Inouye, Michael; Isomaa, Bo; Johnson, Toby; Kong, Augustine; Krestyaninova, Maria; Kuusisto, Johanna; Laakso, Markku; Lim, Noha; Lindblad, Ulf; M Lindgren, Cecilia; T McCann, Owen; L Mohlke, Karen; D Morris, Andrew; Naitza, Silvia; Orrù, Marco; A Palmer, Colin N; Pouta, Anneli; Randall, Joshua; Rathmann, Wolfgang; Saramies, Jouko; Scheet, Paul; J Scott, Laura; Scuteri, Angelo; Sharp, Stephen; Sijbrands, Eric; H Smit, Jan; Song, Kijoung; Steinthorsdottir, Valgerdur; M Stringham, Heather; Tuomi, Tiinamaija; Tuomilehto, Jaakko; G Uitterlinden, André; F Voight, Benjamin; Waterworth, Dawn; Wichmann, Herich; Willemsen, Gonneke; M Witteman, Jacqueline C; Yuan, Xin; Hua Zhao, Jing; Zeggini, Eleftheria; Schlessinger, David; Sandhu, Manjinder; I Boomsma, Dorret; Uda, Manuela; D Spector, Tim; WJH Penninx, Brenda; Altshuler, David; Vollenweider, Peter; Riitta Jarvelin, Marjo; Lakatta, Edward; Waeber, Gerard; S Fox, Caroline; Peltonen, Leena; C Groop, Leif; Mooser, Vincent; Adrienne Cupples, L; Thorsteinsdottir, Unnur; Boehnke, Michael; Barroso, Inês; Van Duijn, Cornelia; Dupuis, Josée; M Watanabe, Richard; Stefansson, Kari; I McCarthy, Mark; J Wareham, Nicholas; B Meigs, James; R Abecasis, Gonçalo | |
| A new splicing mutation in CFTR gene | 1-gen-2007 | V. Faa; A. Meloni; M. Masala; D. Corda; G. Ibba; F. Incani; A. Cao; M.C. Rosatelli | |
| A novel interstitial deletion in Xq25, identified by array-CGH in a patient with Lowe syndrome | 1-gen-2007 | Maria Addis; Cristiana Meloni; Rita Congiu; Simona Santaniello; Francesco Emma; Orsetta Zuffardi; Roberto Ciccone; Antonio Cao; Maria Antonietta Melis;and Milena Cau | |
| Crisponi Syndrome is Caused by Mutations in the CRLF1 Gene and is Allelic to Cold-Induced Sweating Syndrome 1 | 1-gen-2007 | Crisponi L.; Crisponi G.; Meloni A.; Toliat M.R.; Nürnberg G.; Usala G.; Uda M.; Masala M.; Höhne W.; Becker C.; Marongiu M.; Chiappe F.; Kleta R.; Rauch A.; Wollnik B.; Strasser F.; Reese T.; Jakobs C.; Kurlemann G.; Cao A.; Nürnberg P.; Rutsch F |