Suchergebnisse - "Maschio, Andrea"

Genetic variants regulating immune cell levels in health and disease von Orrù, Valeria, Steri, Maristella, Sole, Gabriella, Sidore, Carlo, Virdis, Francesca, Dei, Mariano, Lai, Sandra, Zoledziewska, Magdalena, Busonero, Fabio, Mulas, Antonella, Floris, Matteo, Mentzen, Wieslawa I, Urru, Silvana A M, Olla, Stefania, Marongiu, Michele, Piras, Maria G, Lobina, Monia, Maschio, Andrea, Pitzalis, Maristella, Urru, Maria F, Marcelli, Marco, Cusano, Roberto, Deidda, Francesca, Serra, Valentina, Oppo, Manuela, Pilu, Rosella, Reinier, Frederic, Berutti, Riccardo, Pireddu, Luca, Zara, Ilenia, Porcu, Eleonora, Kwong, Alan, Brennan, Christine, Tarrier, Brendan, Lyons, Robert, Kang, Hyun M, Uzzau, Sergio, Atzeni, Rossano, Valentini, Maria, Firinu, Davide, Leoni, Lidia, Rotta, Gianluca, Naitza, Silvia, Angius, Andrea, Congia, Mauro, Whalen, Michael B, Jones, Chris M, Schlessinger, David, Abecasis, Gonçalo R, Fiorillo, Edoardo, Sanna, Serena, Cucca, Francesco

“… The complex network of specialized cells and molecules in the immune system has evolved to defend against pathogens, but inadvertent immune system attacks on …”
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Assessing Mitochondrial DNA Variation and Copy Number in Lymphocytes of ~2,000 Sardinians Using Tailored Sequencing Analysis Tools von Ding, Jun, Sidore, Carlo, Butler, Thomas J., Wing, Mary Kate, Qian, Yong, Meirelles, Osorio, Busonero, Fabio, Tsoi, Lam C., Maschio, Andrea, Angius, Andrea, Kang, Hyun Min, Nagaraja, Ramaiah, Cucca, Francesco, Abecasis, Gonçalo R., Schlessinger, David

“… DNA sequencing identifies common and rare genetic variants for association studies, but studies typically focus on variants in nuclear DNA and ignore the …”
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Genome-Wide Association Scan Shows Genetic Variants in the FTO Gene Are Associated with Obesity-Related Traits von Scuteri, Angelo, Sanna, Serena, Chen, Wei-Min, Uda, Manuela, Albai, Giuseppe, Strait, James, Najjar, Samer, Nagaraja, Ramaiah, Orrú, Marco, Usala, Gianluca, Dei, Mariano, Lai, Sandra, Maschio, Andrea, Busonero, Fabio, Mulas, Antonella, Ehret, Georg B, Fink, Ashley A, Weder, Alan B, Cooper, Richard S, Galan, Pilar, Chakravarti, Aravinda, Schlessinger, David, Cao, Antonio, Lakatta, Edward, Abecasis, Gonçalo R

“… The obesity epidemic is responsible for a substantial economic burden in developed countries and is a major risk factor for type 2 diabetes and cardiovascular …”
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Genome-wide association study shows BCL11A associated with persistent fetal hemoglobin and amelioration of the phenotype of beta-thalassemia von Uda, Manuela, Galanello, Renzo, Sanna, Serena, Lettre, Guillaume, Sankaran, Vijay G, Chen, Weimin, Usala, Gianluca, Busonero, Fabio, Maschio, Andrea, Albai, Giuseppe, Piras, Maria Grazia, Sestu, Natascia, Lai, Sandra, Dei, Mariano, Mulas, Antonella, Crisponi, Laura, Naitza, Silvia, Asunis, Isadora, Deiana, Manila, Nagaraja, Ramaiah, Perseu, Lucia, Satta, Stefania, Cipollina, Maria Dolores, Sollaino, Carla, Moi, Paolo, Hirschhorn, Joel N, Orkin, Stuart H, Abecasis, Gonçalo R, Schlessinger, David, Cao, Antonio

“… beta-Thalassemia and sickle cell disease both display a great deal of phenotypic heterogeneity, despite being generally thought of as simple Mendelian …”
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Height-reducing variants and selection for short stature in Sardinia von Zoledziewska, Magdalena, Sidore, Carlo, Chiang, Charleston W K, Sanna, Serena, Mulas, Antonella, Steri, Maristella, Busonero, Fabio, Marcus, Joseph H, Marongiu, Michele, Maschio, Andrea, Del Vecchyo, Diego Ortega, Floris, Matteo, Meloni, Antonella, Delitala, Alessandro, Concas, Maria Pina, Murgia, Federico, Biino, Ginevra, Vaccargiu, Simona, Nagaraja, Ramaiah, Lohmueller, Kirk E, Timpson, Nicholas J, Soranzo, Nicole, Tachmazidou, Ioanna, Dedoussis, George, Zeggini, Eleftheria, Uzzau, Sergio, Jones, Chris, Lyons, Robert, Angius, Andrea, Abecasis, Gonçalo R, Novembre, John, Schlessinger, David, Cucca, Francesco

“… Francesco Cucca, David Schlessinger, John Novembre, Gonçalo Abecasis and colleagues present sequencing-based whole-genome association analyses for stature in …”
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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 von Naitza, Silvia, Porcu, Eleonora, Steri, Maristella, Taub, Dennis D., Mulas, Antonella, Xiao, Xiang, Strait, James, Dei, Mariano, Lai, Sandra, Busonero, Fabio, Maschio, Andrea, Usala, Gianluca, Zoledziewska, Magdalena, Sidore, Carlo, Zara, Ilenia, Pitzalis, Maristella, Loi, Alessia, Virdis, Francesca, Piras, Roberta, Deidda, Francesca, Whalen, Michael B., Crisponi, Laura, Concas, Antonio, Podda, Carlo, Uzzau, Sergio, Scheet, Paul, Longo, Dan L., Lakatta, Edward, Abecasis, Gonçalo R., Cao, Antonio, Schlessinger, David, Uda, Manuela, Sanna, Serena, Cucca, Francesco

“… Identifying the genes that influence levels of pro-inflammatory molecules can help to elucidate the mechanisms underlying this process. We first conducted a …”
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The GLUT9 Gene Is Associated with Serum Uric Acid Levels in Sardinia and Chianti Cohorts von 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, Najjar, Samer S, Guralnik, Jack, Naitza, Silvia, Crisponi, Laura, Cao, Antonio, Abecasis, Gonçalo, Ferrucci, Luigi, Uda, Manuela, Chen, Wei-Min, Nagaraja, Ramaiah

“… High serum uric acid levels elevate pro-inflammatory-state gout crystal arthropathy and place individuals at high risk for cardiovascular morbidity and …”
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Population Genomic Analysis of Ancient and Modern Genomes Yields New Insights into the Genetic Ancestry of the Tyrolean Iceman and the Genetic Structure of Europe von Sikora, Martin, Carpenter, Meredith L., Moreno-Estrada, Andres, Henn, Brenna M., Underhill, Peter A., Sánchez-Quinto, Federico, Zara, Ilenia, Pitzalis, Maristella, Sidore, Carlo, Busonero, Fabio, Maschio, Andrea, Angius, Andrea, Jones, Chris, Mendoza-Revilla, Javier, Nekhrizov, Georgi, Dimitrova, Diana, Theodossiev, Nikola, Harkins, Timothy T., Keller, Andreas, Maixner, Frank, Zink, Albert, Abecasis, Goncalo, Sanna, Serena, Cucca, Francesco, Bustamante, Carlos D.

“… Genome sequencing of the 5,300-year-old mummy of the Tyrolean Iceman, found in 1991 on a glacier near the border of Italy and Austria, has yielded new insights …”
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Identification of a common variant in the TFR2 gene implicated in the physiological regulation of serum iron levels von Pichler, Irene, Minelli, Cosetta, Sanna, Serena, Tanaka, Toshiko, Schwienbacher, Christine, Naitza, Silvia, Porcu, Eleonora, Pattaro, Cristian, Busonero, Fabio, Zanon, Alessandra, Maschio, Andrea, Melville, Scott A, Grazia Piras, Maria, Longo, Dan L, Guralnik, Jack, Hernandez, Dena, Bandinelli, Stefania, Aigner, Elmar, Murphy, Anthony T, Wroblewski, Victor, Marroni, Fabio, Theurl, Igor, Gnewuch, Carsten, Schadt, Eric, Mitterer, Manfred, Schlessinger, David, Ferrucci, Luigi, Witcher, Derrick R, Hicks, Andrew A, Weiss, Günter, Uda, Manuela, Pramstaller, Peter P

“… The genetic determinants of variation in iron status are actively sought, but remain incompletely understood. Meta-analysis of two genome-wide association …”
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Correction: Assessing Mitochondrial DNA Variation and Copy Number in Lymphocytes of ~2,000 Sardinians Using Tailored Sequencing Analysis Tools von Ding, Jun, Sidore, Carlo, Butler, Thomas J., Wing, Mary Kate, Qian, Yong, Meirelles, Osorio, Busonero, Fabio, Tsoi, Lam C., Maschio, Andrea, Angius, Andrea, Kang, Hyun Min, Nagaraja, Ramaiah, Cucca, Francesco, Abecasis, Gonçalo R., Schlessinger, David

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Exome-wide association study of plasma lipids in >300,000 individuals von Peloso, Gina M, Wang, Xiao, Alam, Dewan, Arveiler, Dominique, Ballantyne, Christie M, Bis, Joshua C, Boerwinkle, Eric, Bork-Jensen, Jette, Brandslund, Ivan, Busonero, Fabio, Caulfield, Mark J, Chasman, Daniel I, Chen, Yii-Der Ida, Christensen, Cramer, Cucca, Francesco, Cupples, L Adrienne, Davies, Gail, Deary, Ian J, Dubé, Marie-Pierre, Ford, Ian, Fornage, Myriam, Fuster, Valentin, Ganesh, Santhi K, Giulianini, Franco, Grarup, Niels, Groop, Leif, Hansen, Torben, Harris, Tamara B, Hayward, Caroline, Hveem, Kristian, Jabeen, Sehrish, Jackson, Anne U, Jensen, Gorm B, Jørgensen, Marit E, Kamstrup, Pia R, Kanoni, Stavroula, Khera, Amit V, Koistinen, Heikki A, Kooperberg, Charles, Kuusisto, Johanna, Laakso, Markku, Langsted, Anne, Linneberg, Allan, Loos, Ruth J F, Lu, Yingchang, Malarstig, Anders, Manichaikul, Ani, Manning, Alisa K, Marouli, Eirini, Maschio, Andrea, Melander, Olle, Morrison, Alanna C, Mulas, Antonella, Neville, Matt J, Nielsen, Jonas B, Nordestgaard, Børge G, Mehran, Roxana, O'Donnell, Christoper J, Molony, Cliona M, Palmer, Colin N A, Pasko, Dorota, Peters, Annette, Pisinger, Charlotta, Polasek, Ozren, Poulter, Neil, Psaty, Bruce M, Rasheed, Asif, Reiner, Alex P, Robertson, Neil R, Rudan, Igor, Salomaa, Veikko, Sanna, Serena, Schmidt, Ellen M, Sever, Peter, Sevilla, Raquel S, Smith, Blair H, Speliotes, Elizabeth K, Stirrups, Kathleen E, Stitziel, Nathan, Surendran, Praveen, Tall, Alan R, Tsao, Philip S, van Zuydam, Natalie R, Varbo, Anette, Waldenberger, Melanie, Wareham, Nick J, Weeke, Peter E, Wessel, Jennifer, Wilson, James G, Wilson, Peter W F, Yaghootkar, Hanieh, Young, Robin, Zeggini, Eleftheria, Zhang, Weihua, Zhou, Wei, Howson, Joanna M M, McCarthy, Mark I, Cowan, Chad A, Deloukas, Panos, Kathiresan, Sekar

“… Exome-wide genetic analysis on >300,000 individuals identifies associations with plasma lipid traits. Loci significantly associated with cholesterol and …”
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Overexpression of the Cytokine BAFF and Autoimmunity Risk von Steri, Maristella, Orrù, Valeria, Idda, M. Laura, Pitzalis, Maristella, Pala, Mauro, Zara, Ilenia, Sidore, Carlo, Faà, Valeria, Floris, Matteo, Deiana, Manila, Asunis, Isadora, Porcu, Eleonora, Mulas, Antonella, Piras, Maria G, Lobina, Monia, Lai, Sandra, Marongiu, Mara, Serra, Valentina, Marongiu, Michele, Sole, Gabriella, Busonero, Fabio, Maschio, Andrea, Cusano, Roberto, Cuccuru, Gianmauro, Deidda, Francesca, Poddie, Fausto, Farina, Gabriele, Dei, Mariano, Virdis, Francesca, Olla, Stefania, Satta, Maria A, Pani, Mario, Delitala, Alessandro, Cocco, Eleonora, Frau, Jessica, Coghe, Giancarlo, Lorefice, Lorena, Fenu, Giuseppe, Ferrigno, Paola, Ban, Maria, Barizzone, Nadia, Leone, Maurizio, Guerini, Franca R, Piga, Matteo, Firinu, Davide, Kockum, Ingrid, Lima Bomfim, Izaura, Olsson, Tomas, Alfredsson, Lars, Suarez, Ana, Carreira, Patricia E, Castillo-Palma, Maria J, Marcus, Joseph H, Congia, Mauro, Angius, Andrea, Melis, Maurizio, Gonzalez, Antonio, Alarcón Riquelme, Marta E, da Silva, Berta M, Marchini, Maurizio, Danieli, Maria G, Del Giacco, Stefano, Mathieu, Alessandro, Pani, Antonello, Montgomery, Stephen B, Rosati, Giulio, Hillert, Jan, Sawcer, Stephen, D’Alfonso, Sandra, Todd, John A, Novembre, John, Abecasis, Gonçalo R, Whalen, Michael B, Marrosu, Maria G, Meloni, Alessandra, Sanna, Serena, Gorospe, Myriam, Schlessinger, David, Fiorillo, Edoardo, Zoledziewska, Magdalena, Cucca, Francesco

“… Genetic analysis revealed a gene variant in the Sardinian population that was associated with autoimmune disease. In the variant gene, a deletion yielded a …”
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Genome sequencing elucidates Sardinian genetic architecture and augments association analyses for lipid and blood inflammatory markers von Sidore, Carlo, Busonero, Fabio, Maschio, Andrea, Porcu, Eleonora, Naitza, Silvia, Zoledziewska, Magdalena, Mulas, Antonella, Pistis, Giorgio, Steri, Maristella, Danjou, Fabrice, Kwong, Alan, Ortega del Vecchyo, Vicente Diego, Chiang, Charleston W K, Bragg-Gresham, Jennifer, Pitzalis, Maristella, Nagaraja, Ramaiah, Tarrier, Brendan, Brennan, Christine, Uzzau, Sergio, Fuchsberger, Christian, Atzeni, Rossano, Reinier, Frederic, Berutti, Riccardo, Huang, Jie, Timpson, Nicholas J, Toniolo, Daniela, Gasparini, Paolo, Malerba, Giovanni, Dedoussis, George, Zeggini, Eleftheria, Soranzo, Nicole, Jones, Chris, Lyons, Robert, Angius, Andrea, Kang, Hyun M, Novembre, John, Sanna, Serena, Schlessinger, David, Cucca, Francesco, Abecasis, Gonçalo R

“… Gonçalo Abecasis, Francesco Cucca, David Schlessinger, Serena Sanna and colleagues report ~17.6 million genetic variants from whole-genome sequencing of 2,120 …”
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Intestinal Blastocystis is linked to healthier diets and more favorable cardiometabolic outcomes in 56,989 individuals from 32 countries von Piperni, Elisa, Nguyen, Long H, Manghi, Paolo, Kim, Hanseul, Pasolli, Edoardo, Andreu-Sánchez, Sergio, Arrè, Alberto, Bermingham, Kate M, Blanco-Míguez, Aitor, Manara, Serena, Valles-Colomer, Mireia, Bakker, Elco, Busonero, Fabio, Davies, Richard, Fiorillo, Edoardo, Giordano, Francesca, Hadjigeorgiou, George, Leeming, Emily R, Lobina, Monia, Masala, Marco, Maschio, Andrea, McIver, Lauren J, Pala, Mauro, Pitzalis, Maristella, Wolf, Jonathan, Fu, Jingyuan, Zhernakova, Alexandra, Cacciò, Simone M, Cucca, Francesco, Berry, Sarah E, Ercolini, Danilo, Chan, Andrew T, Huttenhower, Curtis, Spector, Tim D, Segata, Nicola, Asnicar, Francesco

“… Diet impacts human health, influencing body adiposity and the risk of developing cardiometabolic diseases. The gut microbiome is a key player in the …”
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Genomic history of the Sardinian population von Chiang, Charleston W. K., Marcus, Joseph H., Sidore, Carlo, Biddanda, Arjun, Al-Asadi, Hussein, Zoledziewska, Magdalena, Pitzalis, Maristella, Busonero, Fabio, Maschio, Andrea, Pistis, Giorgio, Steri, Maristella, Angius, Andrea, Lohmueller, Kirk E., Abecasis, Goncalo R., Schlessinger, David, Cucca, Francesco, Novembre, John

“… The population of the Mediterranean island of Sardinia has made important contributions to genome-wide association studies of complex disease traits and, based …”
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Meta-analysis of Genome-wide Association Studies for Neuroticism, and the Polygenic Association With Major Depressive Disorder von de Moor, Marleen H M, van den Berg, Stéphanie M, Verweij, Karin J H, Krueger, Robert F, Luciano, Michelle, Arias Vasquez, Alejandro, Matteson, Lindsay K, Derringer, Jaime, Esko, Tõnu, Amin, Najaf, Gordon, Scott D, Hansell, Narelle K, Hart, Amy B, Seppälä, Ilkka, Huffman, Jennifer E, Konte, Bettina, Lahti, Jari, Lee, Minyoung, Miller, Mike, Nutile, Teresa, Tanaka, Toshiko, Teumer, Alexander, Viktorin, Alexander, Wedenoja, Juho, Abecasis, Goncalo R, Adkins, Daniel E, Agrawal, Arpana, Allik, Jüri, Appel, Katja, Bigdeli, Timothy B, Busonero, Fabio, Campbell, Harry, Costa, Paul T, Davey Smith, George, Davies, Gail, de Wit, Harriet, Ding, Jun, Engelhardt, Barbara E, Eriksson, Johan G, Fedko, Iryna O, Ferrucci, Luigi, Franke, Barbara, Giegling, Ina, Grucza, Richard, Hartmann, Annette M, Heath, Andrew C, Heinonen, Kati, Henders, Anjali K, Homuth, Georg, Hottenga, Jouke-Jan, Iacono, William G, Janzing, Joost, Jokela, Markus, Karlsson, Robert, Kemp, John P, Kirkpatrick, Matthew G, Latvala, Antti, Lehtimäki, Terho, Liewald, David C, Madden, Pamela A F, Magri, Chiara, Magnusson, Patrik K E, Marten, Jonathan, Maschio, Andrea, Medland, Sarah E, Mihailov, Evelin, Milaneschi, Yuri, Montgomery, Grant W, Nauck, Matthias, Ouwens, Klaasjan G, Palotie, Aarno, Pettersson, Erik, Polasek, Ozren, Qian, Yong, Pulkki-Råback, Laura, Raitakari, Olli T, Realo, Anu, Rose, Richard J, Ruggiero, Daniela, Schmidt, Carsten O, Slutske, Wendy S, Sorice, Rossella, Starr, John M, St Pourcain, Beate, Sutin, Angelina R, Timpson, Nicholas J, Trochet, Holly, Vermeulen, Sita, Vuoksimaa, Eero, Widen, Elisabeth, Wouda, Jasper, Wright, Margaret J, Zgaga, Lina, Porteous, David, Minelli, Alessandra, Palmer, Abraham A, Rujescu, Dan, Ciullo, Marina, Hayward, Caroline, Rudan, Igor

“… Neuroticism is a pervasive risk factor for psychiatric conditions. It genetically overlaps with major depressive disorder (MDD) and is therefore an important …”
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Region-specific changes in gene expression are associated with cognitive deficits in the alpha-synuclein-induced model of Parkinson's disease: A transcriptomic profiling study von Manchinu, Maria Francesca, Pala, Mauro, Palmas, Maria Francesca, Diana, Maria Antonietta, Maschio, Andrea, Etzi, Michela, Pisanu, Augusta, Diana, Francesca Isabella, Marongiu, Jacopo, Mansueto, Silvia, Carboni, Ezio, Fusco, Giuliana, De Simone, Alfonso, Carta, Anna R.

“… Mild cognitive impairment (MCI) is a common trait of Parkinson's disease (PD), often associated with early motor deficits, eventually evolving to PD with …”
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TYK2 :p.Pro1104Ala Variant Protects Against Autoimmunity by Modulating Immune Cell Levels von Steri, Maristella, Orrù, Valeria, Sidore, Carlo, Mulas, Antonella, Pitzalis, Maristella, Busonero, Fabio, Maschio, Andrea, Serra, Valentina, Dei, Mariano, Lai, Sandra, Virdis, Francesca, Lobina, Monia, Loizedda, Annalisa, Marongiu, Michele, Masala, Marco, Floris, Matteo, Curreli, Nicolò, Balaci, Lenuta, Loi, Francesco, Pilia, Maria Grazia, Delitala, Alessandro, Fiorillo, Edoardo, Schlessinger, David, Zoledziewska, Magdalena

“… ABSTRACT The TYK2:p.Pro1104Ala (rs34536443) hypomorph variant has been associated with protection against numerous autoimmune disorders. Thus, its mechanism of …”
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Genome-wide association analyses based on whole-genome sequencing in Sardinia provide insights into regulation of hemoglobin levels von Danjou, Fabrice, Zoledziewska, Magdalena, Sidore, Carlo, Steri, Maristella, Busonero, Fabio, Maschio, Andrea, Mulas, Antonella, Perseu, Lucia, Barella, Susanna, Porcu, Eleonora, Pistis, Giorgio, Pitzalis, Maristella, Pala, Mauro, Menzel, Stephan, Metrustry, Sarah, Spector, Timothy D, Leoni, Lidia, Angius, Andrea, Uda, Manuela, Moi, Paolo, Thein, Swee Lay, Galanello, Renzo, Abecasis, Gonçalo R, Schlessinger, David, Sanna, Serena, Cucca, Francesco

“… Francesco Cucca, Serena Sanna, David Schlessinger, Gonçalo Abecasis and colleagues report genome-wide association analysis results for the levels of A1, A2 and …”
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GWAS of genetic factors affecting white blood cell morphological parameters in Sardinians uncovers influence of chromosome 11 innate immunity gene cluster on eosinophil morphology von Marongiu, Michele, Pérez-Mejías, Gonzalo, Orrù, Valeria, Steri, Maristella, Sidore, Carlo, Díaz-Quintana, Antonio, Mulas, Antonella, Busonero, Fabio, Maschio, Andrea, Walter, Klaudia, Tardaguila, Manuel, Akbari, Parsa, Soranzo, Nicole, Fiorillo, Edoardo, Gorospe, Myriam, Schlessinger, David, Díaz-Moreno, Irene, Cucca, Francesco, Zoledziewska, Magdalena

“… Few genome-wide association studies (GWAS) analyzing genetic regulation of morphological traits of white blood cells have been reported. We carried out a GWAS …”
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