USALA, GIANLUCA
USALA, GIANLUCA
Expanding the Mutational Spectrum of CRLF1 in Crisponi/CISS1 Syndrome
2014 Piras, Roberta; Chiappe, Francesca; La Torraca, Ilaria; Buers, Insa; Usala, Gianluca; Angius, Andrea; Akin Mustafa, Ali; Baselvanagaite, Lina; Benedicenti, Francesco; Chiodin, Elisabetta; El Assy, Osama; Feingoldzadok, Michal; Guibert, Javier; Kamien, Benjamin; Kasapkara Cigdem, Seher; Kilic, Esra; Boduroglu, Koray; Kurtoglu, Selim; Manzur Adnan, Y; Onal Eray, Esra; Paderi, Enrica; Herrero Roche, Carmen; Tumer, Leyla; Unal, Sezin; Utine Guelen, Eda; Zanda, Giovanni; Zankl, Andreas; Zampino, Giuseppe; Crisponi, Giangiorgio; Crisponi, Laura; Rutsch, Frank
A meta-analysis of thyroid-related traits reveals novel loci and gender-specific differences in the regulation of thyroid function.
2013 Porcu E; Medici M; Pistis G; Volpato CB; Wilson SG; Cappola AR; Bos SD; Deelen J; den Heijer M; Freathy RM; Lahti J; Liu C; Lopez LM; Nolte IM; O'Connell JR; Tanaka T; Trompet S; Arnold A; Bandinelli S; Beekman M; Böhringer S; Brown SJ; Buckley BM; Camaschella C; de Craen AJ; Davies G; de Visser MC; Ford I; Forsen T; Frayling TM; Fugazzola L; Gögele M; Hattersley AT; Hermus AR; Hofman A; HouwingDuistermaat JJ; Jensen RA; Kajantie E; Kloppenburg M; Lim EM; Masciullo C; Mariotti S; Minelli C; Mitchell BD; Nagaraja R; NeteaMaier RT; Palotie A; Persani L; Piras MG; Psaty BM; Räikkönen K; Richards JB; Rivadeneira F; Sala C; Sabra MM; Sattar N; Shields BM; Soranzo N; Starr JM; Stott DJ; Sweep FC; Usala G; van der Klauw MM; van Heemst D; van Mullem A; Vermeulen SH; Visser WE; Walsh JP; Westendorp RG; Widen E; Zhai G; Cucca F; Deary IJ; Eriksson JG; Ferrucci L; Fox CS; Jukema JW; Kiemeney LA; Pramstaller PP; Schlessinger D; Shuldiner AR; Slagboom EP; Uitterlinden AG; Vaidya B; Visser TJ; Wolffenbuttel BH; Meulenbelt I; Rotter JI; Spector TD; Hicks AA; Toniolo D; Sanna S; Peeters RP; Naitza S.
A genome-wide association scan on the levels of markers of inflammation in Sardinians reveals associations that underpin its complex regulation.
2012 Naitza S; Porcu E; Steri M; Taub DD; Mulas A; Xiao X; Strait J; Dei M; Lai S; Busonero F; Maschio A; Usala G; Zoledziewska M; Sidore C; Zara I; Pitzalis M; Loi A; Virdis F; Piras R; Deidda F; Whalen MB; Crisponi L; Concas A; Podda C; Uzzau S; Scheet P; Longo DL; Lakatta E; Abecasis GR; Cao A; Schlessinger D; Uda M; Sanna S; Cucca F.
Fine mapping of five Loci associated with low-density lipoprotein cholesterol detects variants that double the explained heritability.
2011 Sanna S; Li B; Mulas A; Sidore C; Kang HM; Jackson AU; Piras MG; Usala G; Maninchedda G; Sassu A; Serra F; Palmas MA; Wood WH rd; Njølstad I; Laakso M; Hveem K; Tuomilehto; Lakka; Rauramaa R; Boehnke M; Cucca F; Uda M; Schlessinger ; Nagaraja; Abecasis
Novel and recurrent JAG1 mutations in patients with tetralogy of Fallot.
2011 Guida V; Chiappe F; Ferese R; Usala G; Maestrale G; Iannascoli C; Bellacchio E; Mingarelli R; Digilio MC; Marino B; Uda M; De Luca A; Dallapiccola B.
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
Amelioration of Sardinian beta-0 thalassemia by genetic modifiers
2009 Renzo Galanello; Serena Sanna; Lucia Perseu; Maria Carla Sollaino; Stefania Satta; Maria Eliana Lai; Susanna Barella; Manuela Uda; Gianluca Usala; Goncalo R. Abecasis;Antonio Cao
Common variants at ten loci modulate the QT interval duration in the QTSCD Study
2009 Arne Pfeufer,,; Serena Sanna,; Dan E Arking,; Martina Muller; Vesela Gateva;Christian Fuchsberger; Georg B Ehret; Marco Orru ; Cristian Pattaro; Anna Kottgen; Siegfried Perz;Gianluca Usala; Maja Barbalic; Man Li; Benno Putz; Angelo Scuteri; Ronald J Prineas;Moritz F Sinner; Christian Gieger; Samer S Najjar; W H Linda Kao; Thomas W Muhleisen,;Mariano Dei; Christine Happle,; Stefan Mohlenkamp; Laura Crisponi; Raimund Erbel;KarlHeinz Jockel; Silvia Naitza; Gerhard Steinbeck; Fabio Marroni; Andrew A Hicks; Edward Lakatta; Bertram MullerMyhsok; Peter P Pramstaller,,; HErich Wichmann,; David Schlessinger; Eric Boerwinkle; Thomas Meitinger,; Manuela Uda; Josef Coresh,; Stefan Kaab; Goncalo R Abecasis; Aravinda Chakravarti,.
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
Genome-wide association study of vitamin B6, vitamin B12, folate, and homocysteine blood concentrations.
2009 Tanaka T; Scheet P; Giusti B; Bandinelli S; Piras MG; Usala G; Lai S; Mulas A; Corsi AM; Vestrini A; Sofi F; Gori AM; Abbate R; Guralnik J; Singleton A; Abecasis GR; Schlessinger D; Uda M; Ferrucci L.
The central arterial burden of the metabolic syndrome is similar in men and women: the SardiNIA Study.
2009 Scuteri A; Najjar SS; Orru' M; Usala G; Piras MG; Ferrucci L; Cao A; Schlessinger D; Uda M; Lakatta EG.
Genetic Modifiers of Homozygous Beta Zero Thalassemia
2008 R. Galanello;MD; Lucia Perseu; Maria Carla Sollaino; Stefania Satta; Manuela Uda; Gianluca Usala; Congalo Abecasis; David schlessinger;Antonio Cao
Genome-wide association scan for five major dimensions of personality.
2008 Terracciano A; Sanna S; Uda M; Deiana B; Usala G; Busonero F; Maschio A; Scally M; Patriciu N; Chen WM; Distel MA; Slagboom EP; Boomsma DI; Villafuerte S; Sliwerska E; Burmeister M; Amin N; Janssens AC; van Duijn CM; Schlessinger D; Abecasis GR; Costa PT
Genome-wide association scan for serum bilirubin levels in a Sardinian cohort.
2008 Uda, M; Sanna, S; Busonero, F; Piras, Mg; Usala, G; Maschio, A; Mulas, A; Dei, M; Slai, ; Sestu, N; Naitza, S; Crisponi, L; Masala, M; Cuccuru, G; Mmarongiu, ; Perseu, L; Rgalanello, ; Abecasis, Gr; Schlessinger, S; Acao,
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
Phosphodiesterase 8B Gene Variants Are Associated with Serum TSH Levels and Thyroid Function.
2008 Arnaudlopez, Lisette; Usala, Gianluca; Ceresini, Graziano; D Mitchell, Braxton; Grazia Pilia, Maria; Piras, MARIA GRAZIA; Sestu, Natascia; Maschio, Andrea; Busonero, Fabio; Albai, Giuseppe; Dei, Mariano; Lai, Sandra; Mulas, Antonella; Crisponi, Laura; Tanaka, Toshiko; Bandinelli, Stefania; M Guralnik, Jack; Loi, Angela; Balaci, Lenuta; Sole, Gabriella; Prinzis, Alessia; Mariotti, Stefano; R Shuldiner, Alan; Cao, Antonio; Schlessinger, David; Uda, Manuela; R Abecasis, Gonçalo; Nagaraja, Ramaiah; Sanna, Serena; Naitza, Silvia
Crisponi syndrome is caused by mutations in the CRLF1 gene and is allelic to cold-induced sweating syndrome type 1
2007 Crisponi, Laura; Crisponi, Giangiorgio; Meloni, Alessandra; Reza Toliat, Mohammad; Nürnberg, Gudrun; Usala, Gianluca; Uda, Manuela; Masala, Marco; Höhne, Wolfgang; Becker, Christian; Marongiu, Mara; Chiappe, Francesca; Kleta, Robert; Rauch, Anita; Wollnik, Bernd; Strasser, Friedrich; Reese, Thomas; Jakobs, Cornelis; Kurlemann, Gerd; Cao, Antonio; Nürnberg, Peter; Rutsch, Frank
Genome-Wide Association Scan Shows Genetic Variants in the FTO Gene Are Associated with Obesity-Related Traits
2007 Scuteri A; Sanna S; Chen WM; Uda M; Albai G; Strait J; Najjar S; Nagaraja R; Orru M; Usala G; Dei M; Lai S; Maschio A; Busonero F; Mulas A; Ehret GB; Fink AA; Weder AB; Cooper RS; Galan P; Chakravarti A; Schlessinger D; Cao A; Lakatta E; Abecasis GR.
The GLUT9 Gene is Associated with Serum Uric Acid Levels in Sardinia and Chianti Cohorts.
2007 Li, Siguang; Sanna, Serena; Maschio, Andrea; Busonero, Fabio; Usala, Gianluca; Mulas, Antonella; Lai, Sandra; Dei, Mariano; Orrù, Marco; Albai, Giuseppe; Bandinelli, Stefania; Schlessinger, David; Lakatta, Edward; Scuteri, Angelo; S Najjar, Samer; Guralnik, Jack; Naitza, Silvia; Crisponi, Laura; Cao, Antonio; Abecasis, Gonçalo; Ferrucci, Luigi; Uda, Manuela; Chen, Weimin; Nagaraja, Ramaiah
Heritability of cardiovascular and personality traits in 6,148 Sardinians.
2006 Pilia, G; Chen, Weimin; Scuteri, A; Orru, M; Albai, G; Dei, M; Lai, S; Usala, G; Lai, M; Loi, P; Mameli, C; Vacca, L; Deiana, M; Olla, N; Masala, M; Cao, A; Najjar, Ss; Terracciano, A; Nedorezov, Tt; Sharov, A; B Zonderman, A; Abecasis, Gr; Costa, P; Lakatta, E; Schlessinger, D
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| Expanding the Mutational Spectrum of CRLF1 in Crisponi/CISS1 Syndrome | 1-gen-2014 | Piras, Roberta; Chiappe, Francesca; La Torraca, Ilaria; Buers, Insa; Usala, Gianluca; Angius, Andrea; Akin Mustafa, Ali; Baselvanagaite, Lina; Benedicenti, Francesco; Chiodin, Elisabetta; El Assy, Osama; Feingoldzadok, Michal; Guibert, Javier; Kamien, Benjamin; Kasapkara Cigdem, Seher; Kilic, Esra; Boduroglu, Koray; Kurtoglu, Selim; Manzur Adnan, Y; Onal Eray, Esra; Paderi, Enrica; Herrero Roche, Carmen; Tumer, Leyla; Unal, Sezin; Utine Guelen, Eda; Zanda, Giovanni; Zankl, Andreas; Zampino, Giuseppe; Crisponi, Giangiorgio; Crisponi, Laura; Rutsch, Frank | |
| A meta-analysis of thyroid-related traits reveals novel loci and gender-specific differences in the regulation of thyroid function. | 1-gen-2013 | Porcu E; Medici M; Pistis G; Volpato CB; Wilson SG; Cappola AR; Bos SD; Deelen J; den Heijer M; Freathy RM; Lahti J; Liu C; Lopez LM; Nolte IM; O'Connell JR; Tanaka T; Trompet S; Arnold A; Bandinelli S; Beekman M; Böhringer S; Brown SJ; Buckley BM; Camaschella C; de Craen AJ; Davies G; de Visser MC; Ford I; Forsen T; Frayling TM; Fugazzola L; Gögele M; Hattersley AT; Hermus AR; Hofman A; HouwingDuistermaat JJ; Jensen RA; Kajantie E; Kloppenburg M; Lim EM; Masciullo C; Mariotti S; Minelli C; Mitchell BD; Nagaraja R; NeteaMaier RT; Palotie A; Persani L; Piras MG; Psaty BM; Räikkönen K; Richards JB; Rivadeneira F; Sala C; Sabra MM; Sattar N; Shields BM; Soranzo N; Starr JM; Stott DJ; Sweep FC; Usala G; van der Klauw MM; van Heemst D; van Mullem A; Vermeulen SH; Visser WE; Walsh JP; Westendorp RG; Widen E; Zhai G; Cucca F; Deary IJ; Eriksson JG; Ferrucci L; Fox CS; Jukema JW; Kiemeney LA; Pramstaller PP; Schlessinger D; Shuldiner AR; Slagboom EP; Uitterlinden AG; Vaidya B; Visser TJ; Wolffenbuttel BH; Meulenbelt I; Rotter JI; Spector TD; Hicks AA; Toniolo D; Sanna S; Peeters RP; Naitza S. | |
| A genome-wide association scan on the levels of markers of inflammation in Sardinians reveals associations that underpin its complex regulation. | 1-gen-2012 | Naitza S; Porcu E; Steri M; Taub DD; Mulas A; Xiao X; Strait J; Dei M; Lai S; Busonero F; Maschio A; Usala G; Zoledziewska M; Sidore C; Zara I; Pitzalis M; Loi A; Virdis F; Piras R; Deidda F; Whalen MB; Crisponi L; Concas A; Podda C; Uzzau S; Scheet P; Longo DL; Lakatta E; Abecasis GR; Cao A; Schlessinger D; Uda M; Sanna S; Cucca F. | |
| Fine mapping of five Loci associated with low-density lipoprotein cholesterol detects variants that double the explained heritability. | 1-gen-2011 | Sanna S; Li B; Mulas A; Sidore C; Kang HM; Jackson AU; Piras MG; Usala G; Maninchedda G; Sassu A; Serra F; Palmas MA; Wood WH rd; Njølstad I; Laakso M; Hveem K; Tuomilehto; Lakka; Rauramaa R; Boehnke M; Cucca F; Uda M; Schlessinger ; Nagaraja; Abecasis | |
| Novel and recurrent JAG1 mutations in patients with tetralogy of Fallot. | 1-gen-2011 | Guida V; Chiappe F; Ferese R; Usala G; Maestrale G; Iannascoli C; Bellacchio E; Mingarelli R; Digilio MC; Marino B; Uda M; De Luca A; Dallapiccola B. | |
| 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 | |
| Amelioration of Sardinian beta-0 thalassemia by genetic modifiers | 1-gen-2009 | Renzo Galanello; Serena Sanna; Lucia Perseu; Maria Carla Sollaino; Stefania Satta; Maria Eliana Lai; Susanna Barella; Manuela Uda; Gianluca Usala; Goncalo R. Abecasis;Antonio Cao | |
| Common variants at ten loci modulate the QT interval duration in the QTSCD Study | 1-gen-2009 | Arne Pfeufer,,; Serena Sanna,; Dan E Arking,; Martina Muller; Vesela Gateva;Christian Fuchsberger; Georg B Ehret; Marco Orru ; Cristian Pattaro; Anna Kottgen; Siegfried Perz;Gianluca Usala; Maja Barbalic; Man Li; Benno Putz; Angelo Scuteri; Ronald J Prineas;Moritz F Sinner; Christian Gieger; Samer S Najjar; W H Linda Kao; Thomas W Muhleisen,;Mariano Dei; Christine Happle,; Stefan Mohlenkamp; Laura Crisponi; Raimund Erbel;KarlHeinz Jockel; Silvia Naitza; Gerhard Steinbeck; Fabio Marroni; Andrew A Hicks; Edward Lakatta; Bertram MullerMyhsok; Peter P Pramstaller,,; HErich Wichmann,; David Schlessinger; Eric Boerwinkle; Thomas Meitinger,; Manuela Uda; Josef Coresh,; Stefan Kaab; Goncalo R Abecasis; Aravinda Chakravarti,. | |
| 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 | |
| Genome-wide association study of vitamin B6, vitamin B12, folate, and homocysteine blood concentrations. | 1-gen-2009 | Tanaka T; Scheet P; Giusti B; Bandinelli S; Piras MG; Usala G; Lai S; Mulas A; Corsi AM; Vestrini A; Sofi F; Gori AM; Abbate R; Guralnik J; Singleton A; Abecasis GR; Schlessinger D; Uda M; Ferrucci L. | |
| The central arterial burden of the metabolic syndrome is similar in men and women: the SardiNIA Study. | 1-gen-2009 | Scuteri A; Najjar SS; Orru' M; Usala G; Piras MG; Ferrucci L; Cao A; Schlessinger D; Uda M; Lakatta EG. | |
| Genetic Modifiers of Homozygous Beta Zero Thalassemia | 1-gen-2008 | R. Galanello;MD; Lucia Perseu; Maria Carla Sollaino; Stefania Satta; Manuela Uda; Gianluca Usala; Congalo Abecasis; David schlessinger;Antonio Cao | |
| Genome-wide association scan for five major dimensions of personality. | 1-gen-2008 | Terracciano A; Sanna S; Uda M; Deiana B; Usala G; Busonero F; Maschio A; Scally M; Patriciu N; Chen WM; Distel MA; Slagboom EP; Boomsma DI; Villafuerte S; Sliwerska E; Burmeister M; Amin N; Janssens AC; van Duijn CM; Schlessinger D; Abecasis GR; Costa PT | |
| Genome-wide association scan for serum bilirubin levels in a Sardinian cohort. | 1-gen-2008 | Uda, M; Sanna, S; Busonero, F; Piras, Mg; Usala, G; Maschio, A; Mulas, A; Dei, M; Slai, ; Sestu, N; Naitza, S; Crisponi, L; Masala, M; Cuccuru, G; Mmarongiu, ; Perseu, L; Rgalanello, ; Abecasis, Gr; Schlessinger, S; Acao, | |
| 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 | |
| Phosphodiesterase 8B Gene Variants Are Associated with Serum TSH Levels and Thyroid Function. | 1-gen-2008 | Arnaudlopez, Lisette; Usala, Gianluca; Ceresini, Graziano; D Mitchell, Braxton; Grazia Pilia, Maria; Piras, MARIA GRAZIA; Sestu, Natascia; Maschio, Andrea; Busonero, Fabio; Albai, Giuseppe; Dei, Mariano; Lai, Sandra; Mulas, Antonella; Crisponi, Laura; Tanaka, Toshiko; Bandinelli, Stefania; M Guralnik, Jack; Loi, Angela; Balaci, Lenuta; Sole, Gabriella; Prinzis, Alessia; Mariotti, Stefano; R Shuldiner, Alan; Cao, Antonio; Schlessinger, David; Uda, Manuela; R Abecasis, Gonçalo; Nagaraja, Ramaiah; Sanna, Serena; Naitza, Silvia | |
| Crisponi syndrome is caused by mutations in the CRLF1 gene and is allelic to cold-induced sweating syndrome type 1 | 1-gen-2007 | Crisponi, Laura; Crisponi, Giangiorgio; Meloni, Alessandra; Reza Toliat, Mohammad; Nürnberg, Gudrun; Usala, Gianluca; Uda, Manuela; Masala, Marco; Höhne, Wolfgang; Becker, Christian; Marongiu, Mara; Chiappe, Francesca; Kleta, Robert; Rauch, Anita; Wollnik, Bernd; Strasser, Friedrich; Reese, Thomas; Jakobs, Cornelis; Kurlemann, Gerd; Cao, Antonio; Nürnberg, Peter; Rutsch, Frank | |
| Genome-Wide Association Scan Shows Genetic Variants in the FTO Gene Are Associated with Obesity-Related Traits | 1-gen-2007 | Scuteri A; Sanna S; Chen WM; Uda M; Albai G; Strait J; Najjar S; Nagaraja R; Orru M; Usala G; Dei M; Lai S; Maschio A; Busonero F; Mulas A; Ehret GB; Fink AA; Weder AB; Cooper RS; Galan P; Chakravarti A; Schlessinger D; Cao A; Lakatta E; Abecasis GR. | |
| The GLUT9 Gene is Associated with Serum Uric Acid Levels in Sardinia and Chianti Cohorts. | 1-gen-2007 | Li, Siguang; Sanna, Serena; Maschio, Andrea; Busonero, Fabio; Usala, Gianluca; Mulas, Antonella; Lai, Sandra; Dei, Mariano; Orrù, Marco; Albai, Giuseppe; Bandinelli, Stefania; Schlessinger, David; Lakatta, Edward; Scuteri, Angelo; S Najjar, Samer; Guralnik, Jack; Naitza, Silvia; Crisponi, Laura; Cao, Antonio; Abecasis, Gonçalo; Ferrucci, Luigi; Uda, Manuela; Chen, Weimin; Nagaraja, Ramaiah | |
| Heritability of cardiovascular and personality traits in 6,148 Sardinians. | 1-gen-2006 | Pilia, G; Chen, Weimin; Scuteri, A; Orru, M; Albai, G; Dei, M; Lai, S; Usala, G; Lai, M; Loi, P; Mameli, C; Vacca, L; Deiana, M; Olla, N; Masala, M; Cao, A; Najjar, Ss; Terracciano, A; Nedorezov, Tt; Sharov, A; B Zonderman, A; Abecasis, Gr; Costa, P; Lakatta, E; Schlessinger, D |