Search Results - "Ulivi, Sheila"

A general approach for haplotype phasing across the full spectrum of relatedness by O'Connell, Jared, Gurdasani, Deepti, Delaneau, Olivier, Pirastu, Nicola, Ulivi, Sheila, Cocca, Massimiliano, Traglia, Michela, Huang, Jie, Huffman, Jennifer E, Rudan, Igor, McQuillan, Ruth, Fraser, Ross M, Campbell, Harry, Polasek, Ozren, Asiki, Gershim, Ekoru, Kenneth, Hayward, Caroline, Wright, Alan F, Vitart, Veronique, Navarro, Pau, Zagury, Jean-Francois, Wilson, James F, Toniolo, Daniela, Gasparini, Paolo, Soranzo, Nicole, Sandhu, Manjinder S, Marchini, Jonathan

“…Many existing cohorts contain a range of relatedness between genotyped individuals, either by design or by chance. Haplotype estimation in such cohorts is a…”
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Age- and sex-related variations in platelet count in Italy: a proposal of reference ranges based on 40987 subjects' data by Biino, Ginevra, Santimone, Iolanda, Minelli, Cosetta, Sorice, Rossella, Frongia, Bruno, Traglia, Michela, Ulivi, Sheila, Di Castelnuovo, Augusto, Gögele, Martin, Nutile, Teresa, Francavilla, Marcella, Sala, Cinzia, Pirastu, Nicola, Cerletti, Chiara, Iacoviello, Licia, Gasparini, Paolo, Toniolo, Daniela, Ciullo, Marina, Pramstaller, Peter, Pirastu, Mario, de Gaetano, Giovanni, Balduini, Carlo L

“…Although several studies demonstrated that platelet count is higher in women, decreases with age, and is influenced by genetic background, most clinical…”
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Variation in the Bitter‐taste Receptor Gene TAS2R38, and Adiposity in a Genetically Isolated Population in Southern Italy by Tepper, Beverly J., Koelliker, Yvonne, Zhao, Liqiang, Ullrich, Natalia V., Lanzara, Carmela, D'Adamo, Pio, Ferrara, Antonella, Ulivi, Sheila, Esposito, Laura, Gasparini, Paolo

“…Objective: Variation in the bitter‐taste receptor gene, TAS2R38 confers the ability to taste 6‐n‐propylthiouracil (PROP). The objective of this study was to…”
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Case Report: Two cases of apparent discordance between non-invasive prenatal testing (NIPT) and amniocentesis resulting in feto-placental mosaicism of trisomy 21. Issues in diagnosis, investigation and counselling by Feresin, Agnese, Stampalija, Tamara, Cappellani, Stefania, Bussani, Rossana, Faletra, Flavio, Murru, Flora, Ulivi, Sheila, Suergiu, Sarah, Savarese, Pasquale, Pedicini, Antonio, Policicchio, Margherita, Ruggiero, Raffaella, Bosio, Barbara, Savarese, Giovanni, Ardisia, Carmela

“…The sequencing of cell-free fetal DNA in the maternal plasma through non-invasive prenatal testing (NIPT) is an accurate genetic screening test to detect the…”
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Identification of a New Mutation in RSK2, the Gene for Coffin–Lowry Syndrome (CLS), in Two Related Patients with Mild and Atypical Phenotypes by Di Stazio, Mariateresa, Bigoni, Stefania, Iuso, Nicola, Vuch, Josef, Selvatici, Rita, Ulivi, Sheila, d’Adamo, Pio Adamo

“…Background: Coffin–Lowry syndrome (CLS) is a syndromic form of X-linked intellectual disability, in which specific associated facial, hand, and skeletal…”
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Brain-derived neurotrophic factor serum levels in genetically isolated populations: gender-specific association with anxiety disorder subtypes but not with anxiety levels or Val66Met polymorphism by Carlino, Davide, Francavilla, Ruggiero, Baj, Gabriele, Kulak, Karolina, d'Adamo, Pio, Ulivi, Sheila, Cappellani, Stefania, Gasparini, Paolo, Tongiorgi, Enrico

“…Anxiety disorders (ADs) are disabling chronic disorders with exaggerated behavioral response to threats. This study was aimed at testing the hypothesis that…”
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Heritability and demographic analyses in the large isolated population of Val Borbera suggest advantages in mapping complex traits genes by Traglia, Michela, Sala, Cinzia, Masciullo, Corrado, Cverhova, Valeria, Lori, Francesca, Pistis, Giorgio, Bione, Silvia, Gasparini, Paolo, Ulivi, Sheila, Ciullo, Marina, Nutile, Teresa, Bosi, Emanuele, Sirtori, Marcella, Mignogna, Giovanna, Rubinacci, Alessandro, Buetti, Iwan, Camaschella, Clara, Petretto, Enrico, Toniolo, Daniela

“…Isolated populations are a useful resource for mapping complex traits due to shared stable environment, reduced genetic complexity and extended Linkage…”
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Genetics of eye colours in different rural populations on the Silk Road by Ulivi, Sheila, Mezzavilla, Massimo, Gasparini, Paolo

“…Eye colour is a highly transmissible and discernible trait in humans. A genome-wide association scan for variants associated to eye pigmentation was carried…”
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Genome-wide association studies on Northern Italy isolated populations provide further support concerning genetic susceptibility for major depressive disorder by Dattilo, Vincenzo, Ulivi, Sheila, Minelli, Alessandra, La Bianca, Martina, Giacopuzzi, Edoardo, Bortolomasi, Marco, Bignotti, Stefano, Gennarelli, Massimo, Gasparini, Paolo, Concas, Maria Pina

“…Major depressive disorder (MDD) is a psychiatric disorder with pathogenesis influenced by both genetic and environmental factors. To date, the molecular-level…”
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Meta-GWAS Reveals Novel Genetic Variants Associated with Urinary Excretion of Uromodulin by Joseph, Christina B, Mariniello, Marta, Yoshifuji, Ayumi, Schiano, Guglielmo, Lake, Jennifer, Marten, Jonathan, Richmond, Anne, Huffman, Jennifer E, Campbell, Archie, Harris, Sarah E, Troyanov, Stephan, Cocca, Massimiliano, Robino, Antonietta, Thériault, Sébastien, Eckardt, Kai-Uwe, Wuttke, Matthias, Cheng, Yurong, Corre, Tanguy, Kolcic, Ivana, Black, Corrinda, Bruat, Vanessa, Concas, Maria Pina, Sala, Cinzia, Aeschbacher, Stefanie, Schaefer, Franz, Bergmann, Sven, Campbell, Harry, Olden, Matthias, Polasek, Ozren, Porteous, David J, Deary, Ian J, Madore, Francois, Awadalla, Philip, Girotto, Giorgia, Ulivi, Sheila, Conen, David, Wuehl, Elke, Olinger, Eric, Wilson, James F, Bochud, Murielle, Köttgen, Anna, Hayward, Caroline, Devuyst, Olivier

“…Uromodulin, the most abundant protein excreted in normal urine, plays major roles in kidney physiology and disease. The mechanisms regulating the urinary…”
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Common Variants in UMOD Associate with Urinary Uromodulin Levels: A Meta-Analysis by OLDEN, Matthias, CORRE, Tanguy, COCCA, Massimiliano, GANDIN, Ilaria, GIROTTO, Giorgia, GLAUDEMANS, Bob, HASTIE, Nicholas D, LOFFING, Johannes, POLASEK, Ozren, RAMPOLDI, Luca, RUDAN, Igor, SALA, Cinzia, HAYWARD, Caroline, TRAGLIA, Michela, VOLLENWEIDER, Peter, VUCKOVIC, Dragana, YOUHANNA, Sonia, WEBER, Julien, WRIGHT, Alan F, KUTALIK, Zoltán, BOCHUD, Murielle, FOX, Caroline S, DEVUYST, Olivier, TONIOLO, Daniela, ULIVI, Sheila, GASPARINI, Paolo, PISTIS, Giorgio, HWANG, Shih-Jen, BERGMANN, Sven, CAMPBELL, Harry

“…Uromodulin is expressed exclusively in the thick ascending limb and is the most abundant protein excreted in normal urine. Variants in UMOD, which encodes…”
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Genetic determinants of circulating VEGF levels in major depressive disorder and electroconvulsive therapy response by Maffioletti, Elisabetta, Gennarelli, Massimo, Magri, Chiara, Bocchio‐Chiavetto, Luisella, Bortolomasi, Marco, Bonvicini, Cristian, Abate, Maria, Trabucchi, Luigi, Ulivi, Sheila, Minelli, Alessandra

“…Alterations in peripheral vascular endothelial growth factor (VEGF) levels were observed in major depressive disorder and relative treatments and were shown to…”
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Meta-analysis of genome-wide association studies identifies six new Loci for serum calcium concentrations by O'Seaghdha, Conall M, Wu, Hongsheng, Yang, Qiong, Kapur, Karen, Guessous, Idris, Zuber, Annie Mercier, Köttgen, Anna, Stoudmann, Candice, Teumer, Alexander, Kutalik, Zoltán, Mangino, Massimo, Dehghan, Abbas, Zhang, Weihua, Eiriksdottir, Gudny, Li, Guo, Tanaka, Toshiko, Portas, Laura, Lopez, Lorna M, Hayward, Caroline, Lohman, Kurt, Matsuda, Koichi, Padmanabhan, Sandosh, Firsov, Dmitri, Sorice, Rossella, Ulivi, Sheila, Brockhaus, A Catharina, Kleber, Marcus E, Mahajan, Anubha, Ernst, Florian D, Gudnason, Vilmundur, Launer, Lenore J, Mace, Aurelien, Boerwinckle, Eric, Arking, Dan E, Tanikawa, Chizu, Nakamura, Yusuke, Brown, Morris J, Gaspoz, Jean-Michel, Theler, Jean-Marc, Siscovick, David S, Psaty, Bruce M, Bergmann, Sven, Vollenweider, Peter, Vitart, Veronique, Wright, Alan F, Zemunik, Tatijana, Boban, Mladen, Kolcic, Ivana, Navarro, Pau, Brown, Edward M, Estrada, Karol, Ding, Jingzhong, Harris, Tamara B, Bandinelli, Stefania, Hernandez, Dena, Singleton, Andrew B, Girotto, Giorgia, Ruggiero, Daniela, d'Adamo, Adamo Pio, Robino, Antonietta, Meitinger, Thomas, Meisinger, Christa, Davies, Gail, Starr, John M, Chambers, John C, Boehm, Bernhard O, Winkelmann, Bernhard R, Huang, Jie, Murgia, Federico, Wild, Sarah H, Campbell, Harry, Morris, Andrew P, Franco, Oscar H, Hofman, Albert, Uitterlinden, Andre G, Rivadeneira, Fernando, Völker, Uwe, Hannemann, Anke, Biffar, Reiner, Hoffmann, Wolfgang, Shin, So-Youn, Lescuyer, Pierre, Henry, Hughes, Schurmann, Claudia, Munroe, Patricia B, Gasparini, Paolo, Pirastu, Nicola, Ciullo, Marina, Gieger, Christian, März, Winfried, Lind, Lars, Spector, Tim D, Smith, Albert V, Rudan, Igor, Wilson, James F, Polasek, Ozren, Deary, Ian J, Pirastu, Mario, Ferrucci, Luigi, Liu, Yongmei

“…Calcium is vital to the normal functioning of multiple organ systems and its serum concentration is tightly regulated. Apart from CASR, the genes associated…”
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Analysis of functional variants reveals new candidate genes associated with alexithymia by Mezzavilla, Massimo, Ulivi, Sheila, Bianca, Martina La, Carlino, Davide, Gasparini, Paolo, Robino, Antonietta

“…Abstract In this study we explored the possible association between 36,915 functional variants and alexithymia, a personality trait characterized by the…”
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Genome-Wide Meta-Analysis Unravels Interactions between Magnesium Homeostasis and Metabolic Phenotypes by Corre, Tanguy, Arjona, Francisco J, Hayward, Caroline, Youhanna, Sonia, de Baaij, Jeroen H F, Belge, Hendrica, Nägele, Nadine, Debaix, Huguette, Blanchard, Maxime G, Traglia, Michela, Harris, Sarah E, Ulivi, Sheila, Rueedi, Rico, Lamparter, David, Macé, Aurélien, Sala, Cinzia, Lenarduzzi, Stefania, Ponte, Belen, Pruijm, Menno, Ackermann, Daniel, Ehret, Georg, Baptista, Daniela, Polasek, Ozren, Rudan, Igor, Hurd, Toby W, Hastie, Nicholas D, Vitart, Veronique, Waeber, Geràrd, Kutalik, Zoltán, Bergmann, Sven, Vargas-Poussou, Rosa, Konrad, Martin, Gasparini, Paolo, Deary, Ian J, Starr, John M, Toniolo, Daniela, Vollenweider, Peter, Hoenderop, Joost G J, Bindels, René J M, Bochud, Murielle, Devuyst, Olivier

“…Magnesium (Mg ) homeostasis is critical for metabolism. However, the genetic determinants of the renal handling of Mg , which is crucial for Mg homeostasis,…”
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Common variants in CLDN14 are associated with differential excretion of magnesium over calcium in urine by Corre, Tanguy, Olinger, Eric, Harris, Sarah E., Traglia, Michela, Ulivi, Sheila, Lenarduzzi, Stefania, Belge, Hendrica, Youhanna, Sonia, Tokonami, Natsuko, Bonny, Olivier, Houillier, Pascal, Polasek, Ozren, Deary, Ian J., Starr, John M., Toniolo, Daniela, Gasparini, Paolo, Vollenweider, Peter, Hayward, Caroline, Bochud, Murielle, Devuyst, Olivier

“…The nature and importance of genetic factors regulating the differential handling of Ca 2+ and Mg 2+ by the renal tubule in the general population are poorly…”
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Insight into genetic determinants of resting heart rate by Mezzavilla, Massimo, Iorio, Annamaria, Bobbo, Marco, D'Eustacchio, Angela, Merlo, Marco, Gasparini, Paolo, Ulivi, Sheila, Sinagra, Gianfranco

“…Recent studies suggested that resting heart rate (RHR) might be an independent predictor of cardiovascular mortality and morbidity. Nonetheless, the…”
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Evidence of inbreeding depression on human height by McQuillan, Ruth, Eklund, Niina, Pirastu, Nicola, Kuningas, Maris, McEvoy, Brian P, Esko, Tõnu, Corre, Tanguy, Davies, Gail, Kaakinen, Marika, Lyytikäinen, Leo-Pekka, Kristiansson, Kati, Havulinna, Aki S, Gögele, Martin, Vitart, Veronique, Tenesa, Albert, Aulchenko, Yurii, Hayward, Caroline, Johansson, Asa, Boban, Mladen, Ulivi, Sheila, Robino, Antonietta, Boraska, Vesna, Igl, Wilmar, Wild, Sarah H, Zgaga, Lina, Amin, Najaf, Theodoratou, Evropi, Polašek, Ozren, Girotto, Giorgia, Lopez, Lorna M, Sala, Cinzia, Lahti, Jari, Laatikainen, Tiina, Prokopenko, Inga, Kals, Mart, Viikari, Jorma, Yang, Jian, Pouta, Anneli, Estrada, Karol, Hofman, Albert, Freimer, Nelson, Martin, Nicholas G, Kähönen, Mika, Milani, Lili, Heliövaara, Markku, Vartiainen, Erkki, Räikkönen, Katri, Masciullo, Corrado, Starr, John M, Hicks, Andrew A, Esposito, Laura, Kolčić, Ivana, Farrington, Susan M, Oostra, Ben, Zemunik, Tatijana, Campbell, Harry, Kirin, Mirna, Pehlic, Marina, Faletra, Flavio, Porteous, David, Pistis, Giorgio, Widén, Elisabeth, Salomaa, Veikko, Koskinen, Seppo, Fischer, Krista, Lehtimäki, Terho, Heath, Andrew, McCarthy, Mark I, Rivadeneira, Fernando, Montgomery, Grant W, Tiemeier, Henning, Hartikainen, Anna-Liisa, Madden, Pamela A F, d'Adamo, Pio, Hastie, Nicholas D, Gyllensten, Ulf, Wright, Alan F, van Duijn, Cornelia M, Dunlop, Malcolm, Rudan, Igor, Gasparini, Paolo, Pramstaller, Peter P, Deary, Ian J, Toniolo, Daniela, Eriksson, Johan G, Jula, Antti, Raitakari, Olli T, Metspalu, Andres, Perola, Markus, Järvelin, Marjo-Riitta, Uitterlinden, André, Visscher, Peter M, Wilson, James F

“…Stature is a classical and highly heritable complex trait, with 80%-90% of variation explained by genetic factors. In recent years, genome-wide association…”
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Modulation of genetic associations with serum urate levels by body-mass-index in humans by Huffman, Jennifer E, Albrecht, Eva, Teumer, Alexander, Mangino, Massimo, Kapur, Karen, Johnson, Toby, Kutalik, Zoltán, Pirastu, Nicola, Pistis, Giorgio, Lopez, Lorna M, Haller, Toomas, Salo, Perttu, Goel, Anuj, Li, Man, Tanaka, Toshiko, Dehghan, Abbas, Ruggiero, Daniela, Malerba, Giovanni, Smith, Albert V, Nolte, Ilja M, Portas, Laura, Phipps-Green, Amanda, Boteva, Lora, Navarro, Pau, Johansson, Asa, Hicks, Andrew A, Polasek, Ozren, Esko, Tõnu, Peden, John F, Harris, Sarah E, Murgia, Federico, Wild, Sarah H, Tenesa, Albert, Tin, Adrienne, Mihailov, Evelin, Grotevendt, Anne, Gislason, Gauti K, Coresh, Josef, D'Adamo, Pio, Ulivi, Sheila, Vollenweider, Peter, Waeber, Gerard, Campbell, Susan, Kolcic, Ivana, Fisher, Krista, Viigimaa, Margus, Metter, Jeffrey E, Masciullo, Corrado, Trabetti, Elisabetta, Bombieri, Cristina, Sorice, Rossella, Döring, Angela, Reischl, Eva, Strauch, Konstantin, Hofman, Albert, Uitterlinden, Andre G, Waldenberger, Melanie, Wichmann, H-Erich, Davies, Gail, Gow, Alan J, Dalbeth, Nicola, Stamp, Lisa, Smit, Johannes H, Kirin, Mirna, Nagaraja, Ramaiah, Nauck, Matthias, Schurmann, Claudia, Budde, Kathrin, Farrington, Susan M, Theodoratou, Evropi, Jula, Antti, Salomaa, Veikko, Sala, Cinzia, Hengstenberg, Christian, Burnier, Michel, Mägi, Reedik, Klopp, Norman, Kloiber, Stefan, Schipf, Sabine, Ripatti, Samuli, Cabras, Stefano, Soranzo, Nicole, Homuth, Georg, Nutile, Teresa, Munroe, Patricia B, Hastie, Nicholas, Campbell, Harry, Rudan, Igor, Cabrera, Claudia, Haley, Chris, Franco, Oscar H, Merriman, Tony R, Gudnason, Vilmundur, Pirastu, Mario, Penninx, Brenda W, Snieder, Harold, Metspalu, Andres, Ciullo, Marina, Pramstaller, Peter P, van Duijn, Cornelia M

“…We tested for interactions between body mass index (BMI) and common genetic variants affecting serum urate levels, genome-wide, in up to 42569 participants…”
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DNA mismatch repair gene MSH6 implicated in determining age at natural menopause by Perry, John R B, Hsu, Yi-Hsiang, Chasman, Daniel I, Johnson, Andrew D, Elks, Cathy, Albrecht, Eva, Andrulis, Irene L, Beesley, Jonathan, Berenson, Gerald S, Bergmann, Sven, Bojesen, Stig E, Bolla, Manjeet K, Brown, Judith, Buring, Julie E, Campbell, Harry, Chang-Claude, Jenny, Chenevix-Trench, Georgia, Corre, Tanguy, Couch, Fergus J, Cox, Angela, Czene, Kamila, D'adamo, Adamo Pio, Davies, Gail, Deary, Ian J, Dennis, Joe, Easton, Douglas F, Engelhardt, Ellen G, Eriksson, Johan G, Esko, Tõnu, Fasching, Peter A, Figueroa, Jonine D, Flyger, Henrik, Fraser, Abigail, Garcia-Closas, Montse, Gasparini, Paolo, Gieger, Christian, Giles, Graham, Guenel, Pascal, Hägg, Sara, Hall, Per, Hayward, Caroline, Hopper, John, Ingelsson, Erik, Kardia, Sharon L R, Kasiman, Katherine, Knight, Julia A, Lahti, Jari, Lawlor, Debbie A, Magnusson, Patrik K E, Margolin, Sara, Marsh, Julie A, Metspalu, Andres, Olson, Janet E, Pennell, Craig E, Polasek, Ozren, Rahman, Iffat, Ridker, Paul M, Robino, Antonietta, Rudan, Igor, Rudolph, Anja, Salumets, Andres, Schmidt, Marjanka K, Schoemaker, Minouk J, Smith, Erin N, Smith, Jennifer A, Southey, Melissa, Stöckl, Doris, Swerdlow, Anthony J, Thompson, Deborah J, Truong, Therese, Ulivi, Sheila, Waldenberger, Melanie, Wang, Qin, Wild, Sarah, Wilson, James F, Wright, Alan F, Zgaga, Lina, Ong, Ken K, Murabito, Joanne M, Karasik, David, Murray, Anna

“…The length of female reproductive lifespan is associated with multiple adverse outcomes, including breast cancer, cardiovascular disease and infertility. The…”
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