Found: 19

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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.

    Published in:
    Human Molecular Genetics, 2023, v. 32, n. 5, p. 790, doi. 10.1093/hmg/ddac238
    By:
    • 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
    Publication type:
    Article

  • PRF1 mutation alters immune system activation, inflammation, and risk of autoimmunity.

    Published in:
    Multiple Sclerosis Journal, 2021, v. 27, n. 9, p. 1332, doi. 10.1177/1352458520963937
    By:
    • Sidore, Carlo;
    • Orrù, Valeria;
    • Cocco, Eleonora;
    • Steri, Maristella;
    • Inshaw, Jamie RJ;
    • Pitzalis, Maristella;
    • Mulas, Antonella;
    • McGurnaghan, Stuart;
    • Frau, Jessica;
    • Porcu, Eleonora;
    • Busonero, Fabio;
    • Dei, Mariano;
    • Lai, Sandra;
    • Sole, Gabriella;
    • Virdis, Francesca;
    • Serra, Valentina;
    • Poddie, Fausto;
    • Delitala, Alessandro;
    • Marongiu, Michele;
    • Deidda, Francesca
    Publication type:
    Article

  • A Sardinian founder mutation in glycoprotein Ib platelet subunit beta (GP1BB) that impacts thrombocytopenia.

    Published in:
    British Journal of Haematology, 2020, v. 191, n. 5, p. e124, doi. 10.1111/bjh.17090
    By:
    • Busonero, Fabio;
    • Steri, Maristella;
    • Orrù, Valeria;
    • Sole, Gabriella;
    • Olla, Stefania;
    • Marongiu, Michele;
    • Maschio, Andrea;
    • Sidore, Carlo;
    • Lai, Sandra;
    • Mulas, Antonella;
    • Zoledziewska, Magdalena;
    • Floris, Matteo;
    • Pala, Mauro;
    • Forabosco, Paola;
    • Asunis, Isadora;
    • Pitzalis, Maristella;
    • Deidda, Francesca;
    • Masala, Marco;
    • Caria, Cristian Antonio;
    • Barella, Susanna
    Publication type:
    Article

  • Cooperative translational control of polymorphic BAFF by NF90 and miR-15a.

    Published in:
    Nucleic Acids Research, 2018, v. 46, n. 22, p. 12040, doi. 10.1093/nar/gky866
    By:
    • Idda, M Laura;
    • Lodde, Valeria;
    • McClusky, Waverly G;
    • Martindale, Jennifer L;
    • Yang, Xiaoling;
    • Munk, Rachel;
    • Steri, Maristella;
    • Orrù, Valeria;
    • Mulas, Antonella;
    • Cucca, Francesco;
    • Abdelmohsen, Kotb;
    • Gorospe, Myriam
    Publication type:
    Article

  • Genome-wide association analyses based on whole-genome sequencing in Sardinia provide insights into regulation of hemoglobin levels.

    Published in:
    Nature Genetics, 2015, v. 47, n. 11, p. 1264, doi. 10.1038/ng.3307
    By:
    • Sidore, Carlo;
    • Busonero, Fabio;
    • Maschio, Andrea;
    • Mulas, Antonella;
    • Porcu, Eleonora;
    • Pistis, Giorgio;
    • Angius, Andrea;
    • Moi, Paolo;
    • Thein, Swee Lay;
    • Galanello, Renzo;
    • Cucca, Francesco;
    • Danjou, Fabrice;
    • Zoledziewska, Magdalena;
    • Steri, Maristella;
    • Perseu, Lucia;
    • Pitzalis, Maristella;
    • Pala, Mauro;
    • Uda, Manuela;
    • Sanna, Serena;
    • Barella, Susanna
    Publication type:
    Article

  • Genome sequencing elucidates Sardinian genetic architecture and augments association analyses for lipid and blood inflammatory markers.

    Published in:
    Nature Genetics, 2015, v. 47, n. 11, p. 1272, doi. 10.1038/ng.3368
    By:
    • Sidore, Carlo;
    • Busonero, Fabio;
    • Maschio, Andrea;
    • Porcu, Eleonora;
    • Mulas, Antonella;
    • Pistis, Giorgio;
    • Berutti, Riccardo;
    • Gasparini, Paolo;
    • Soranzo, Nicole;
    • Angius, Andrea;
    • Cucca, Francesco;
    • Naitza, Silvia;
    • Zoledziewska, Magdalena;
    • Steri, Maristella;
    • Danjou, Fabrice;
    • Pitzalis, Maristella;
    • Sanna, Serena;
    • Timpson, Nicholas J;
    • Toniolo, Daniela;
    • Malerba, Giovanni
    Publication type:
    Article

  • Height-reducing variants and selection for short stature in Sardinia.

    Published in:
    Nature Genetics, 2015, v. 47, n. 11, p. 1352, doi. 10.1038/ng.3403
    By:
    • Sidore, Carlo;
    • Mulas, Antonella;
    • Maschio, Andrea;
    • Floris, Matteo;
    • Soranzo, Nicole;
    • Uzzau, Sergio;
    • Angius, Andrea;
    • Cucca, Francesco;
    • Zoledziewska, Magdalena;
    • Sanna, Serena;
    • Steri, Maristella;
    • Busonero, Fabio;
    • Marongiu, Michele;
    • Concas, Maria Pina;
    • Murgia, Federico;
    • Vaccargiu, Simona;
    • Tachmazidou, Ioanna;
    • Zeggini, Eleftheria;
    • Dedoussis, George;
    • Jones, Chris
    Publication type:
    Article

  • The burden of multiple sclerosis variants in continental Italians and Sardinians.

    Published in:
    Multiple Sclerosis Journal, 2015, v. 21, n. 11, p. 1385, doi. 10.1177/1352458515596599
    By:
    • Barizzone, Nadia;
    • Zara, Ilenia;
    • Sorosina, Melissa;
    • Lupoli, Sara;
    • Porcu, Eleonora;
    • Pitzalis, Maristella;
    • Zoledziewska, Magdalena;
    • Esposito, Federica;
    • Leone, Maurizio;
    • Mulas, Antonella;
    • Cocco, Eleonora;
    • Ferrigno, Paola;
    • Guerini, Franca R.;
    • Brambilla, Paola;
    • Farina, Gabriele;
    • Murru, Raffaele;
    • Deidda, Francesca;
    • Sanna, Sonia;
    • Loi, Alessia;
    • Barlassina, Cristina
    Publication type:
    Article

  • Rare variant genotype imputation with thousands of study-specific whole-genome sequences: implications for cost-effective study designs.

    Published in:
    European Journal of Human Genetics, 2015, v. 23, n. 7, p. 975, doi. 10.1038/ejhg.2014.216
    By:
    • Pistis, Giorgio;
    • Porcu, Eleonora;
    • Vrieze, Scott I;
    • Sidore, Carlo;
    • Steri, Maristella;
    • Danjou, Fabrice;
    • Busonero, Fabio;
    • Mulas, Antonella;
    • Zoledziewska, Magdalena;
    • Maschio, Andrea;
    • Brennan, Christine;
    • Lai, Sandra;
    • Miller, Michael B;
    • Marcelli, Marco;
    • Urru, Maria Francesca;
    • Pitzalis, Maristella;
    • Lyons, Robert H;
    • Kang, Hyun M;
    • Jones, Chris M;
    • Angius, Andrea
    Publication type:
    Article

  • Genome-wide association study of susceptibility loci for breast cancer in Sardinian population.

    Published in:
    BMC Cancer, 2015, v. 15, n. 1, p. 1, doi. 10.1186/s12885-015-1392-9
    By:
    • Palomba, Grazia;
    • Loi, Angela;
    • Porcu, Eleonora;
    • Cossu, Antonio;
    • Zara, Ilenia;
    • Budroni, Mario;
    • Dei, Mariano;
    • Lai, Sandra;
    • Mulas, Antonella;
    • Olmeo, Nina;
    • Ionta, Maria Teresa;
    • Atzori, Francesco;
    • Cuccuru, Gianmauro;
    • Pitzalis, Maristella;
    • Zoledziewska, Magdalena;
    • Olla, Nazario;
    • Lovicu, Mario;
    • Pisano, Marina;
    • Abecasis, Gonçalo R.;
    • Uda, Manuela
    Publication type:
    Article

  • Genome-wide association study of susceptibility loci for breast cancer in Sardinian population.

    Published in:
    BMC Cancer, 2015, v. 15, n. 1, p. 383, doi. 10.1186/s12885-015-1392-9
    By:
    • Palomba, Grazia;
    • Loi, Angela;
    • Porcu, Eleonora;
    • Cossu, Antonio;
    • Zara, Ilenia;
    • Budroni, Mario;
    • Dei, Mariano;
    • Lai, Sandra;
    • Mulas, Antonella;
    • Olmeo, Nina;
    • Ionta, Maria Teresa;
    • Atzori, Francesco;
    • Cuccuru, Gianmauro;
    • Pitzalis, Maristella;
    • Zoledziewska, Magdalena;
    • Olla, Nazario;
    • Lovicu, Mario;
    • Pisano, Marina;
    • Abecasis, Gonçalo R.;
    • Uda, Manuela
    Publication type:
    Article

  • Methods for Association Analysis and Meta-Analysis of Rare Variants in Families.

    Published in:
    Genetic Epidemiology, 2015, v. 39, n. 4, p. 227, doi. 10.1002/gepi.21892
    By:
    • Feng, Shuang;
    • Pistis, Giorgio;
    • Zhang, He;
    • Zawistowski, Matthew;
    • Mulas, Antonella;
    • Zoledziewska, Magdalena;
    • Holmen, Oddgeir L.;
    • Busonero, Fabio;
    • Sanna, Serena;
    • Hveem, Kristian;
    • Willer, Cristen;
    • Cucca, Francesco;
    • Liu, Dajiang J.;
    • Abecasis, Gonçalo R.
    Publication type:
    Article

  • Genome-wide association study of susceptibility loci for breast cancer in Sardinian population.

    Published in:
    2015
    By:
    • Palomba, Grazia;
    • Loi, Angela;
    • Porcu, Eleonora;
    • Cossu, Antonio;
    • Zara, Ilenia;
    • Budroni, Mario;
    • Dei, Mariano;
    • Lai, Sandra;
    • Mulas, Antonella;
    • Olmeo, Nina;
    • Ionta, Maria Teresa;
    • Atzori, Francesco;
    • Cuccuru, Gianmauro;
    • Pitzalis, Maristella;
    • Zoledziewska, Magdalena;
    • Olla, Nazario;
    • Lovicu, Mario;
    • Pisano, Marina;
    • Abecasis, Gonçalo R;
    • Uda, Manuela
    Publication type:
    journal article

  • A Genome-Wide Association Scan on the Levels of Markers of Inflammation in Sardinians Reveals Associations That Underpin Its Complex Regulation.

    Published in:
    PLoS Genetics, 2012, v. 8, n. 1, p. 1, doi. 10.1371/journal.pgen.1002480
    By:
    • Naitza, Silvia;
    • Porcu, Eleonora;
    • Steri, Maristella;
    • Taub, Dennis D.;
    • Mulas, Antonella;
    • Xiang Xiao;
    • 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
    Publication type:
    Article

  • Fine Mapping of Five Loci Associated with Low-Density Lipoprotein Cholesterol Detects Variants That Double the Explained Heritability.

    Published in:
    PLoS Genetics, 2011, v. 7, n. 7, p. 1, doi. 10.1371/journal.pgen.1002198
    By:
    • Sanna, Serena;
    • Bingshan Li;
    • Mulas, Antonella;
    • Sidore, Carlo;
    • Kang, Hyun M.;
    • Jackson, Anne U.;
    • Piras, Maria Grazia;
    • Usala, Gianluca;
    • Maninchedda, Giuseppe;
    • Sassu, Alessandro;
    • Serra, Fabrizio;
    • Palmas, Maria Antonietta;
    • Wood III, William H.;
    • Njølstad, Inger;
    • Laakso, Markku;
    • Hveem, Kristian;
    • Tuomilehto, Jaakko;
    • Lakka, Timo A.;
    • Rauramaa, Rainer;
    • Boehnke, Michael
    Publication type:
    Article

  • Variants within the immunoregulatory CBLB gene are associated with multiple sclerosis.

    Published in:
    Nature Genetics, 2010, v. 42, n. 6, p. 495, doi. 10.1038/ng.584
    By:
    • Sanna, Serena;
    • Pitzalis, Maristella;
    • Zoledziewska, Magdalena;
    • Zara, Ilenia;
    • Sidore, Carlo;
    • Murru, Raffaele;
    • Whalen, Michael B.;
    • Busonero, Fabio;
    • Maschio, Andrea;
    • Costa, Gianna;
    • Melis, Maria Cristina;
    • Deidda, Francesca;
    • Poddie, Fausto;
    • Morelli, Laura;
    • Farina, Gabriele;
    • Yun Li;
    • Dei, Mariano;
    • Lai, Sandra;
    • Mulas, Antonella;
    • Cuccuru, Gianmauro
    Publication type:
    Article

  • Common variants in the SLCO1B3 locus are associated with bilirubin levels and unconjugated hyperbilirubinemia.

    Published in:
    Human Molecular Genetics, 2009, v. 18, n. 14, p. 2711, doi. 10.1093/hmg/ddp203
    By:
    • Sanna, Serena;
    • Busonero, Fabio;
    • Maschio, Andrea;
    • McArdle, Patrick F.;
    • Usala, Gianluca;
    • Dei, Mariano;
    • Lai, Sandra;
    • Mulas, Antonella;
    • Piras, Maria Grazia;
    • Perseu, Lucia;
    • Masala, Marco;
    • Marongiu, Mara;
    • Crisponi, Laura;
    • Naitza, Silvia;
    • Galanello, Renzo;
    • Abecasis, Gonçalo R.;
    • Shuldiner, Alan R.;
    • Schlessinger, David;
    • Cao, Antonio;
    • Uda, Manuela
    Publication type:
    Article

  • Newly identified loci that influence lipid concentrations and risk of coronary artery disease.

    Published in:
    Nature Genetics, 2008, v. 40, n. 2, p. 161, doi. 10.1038/ng.76
    By:
    • Willer, Cristen J.;
    • Sanna, Serena;
    • Jackson, Anne U.;
    • Scuteri, Angelo;
    • Bonnycastle, Lori L.;
    • Clarke, Robert;
    • Heath, Simon C.;
    • Timpson, Nicholas J.;
    • Najjar, Samer S.;
    • Stringham, Heather M.;
    • Strait, James;
    • Duren, William L.;
    • Maschio, Andrea;
    • Busonero, Fabio;
    • Mulas, Antonella;
    • Albai, Giuseppe;
    • Swift, Amy J.;
    • Morken, Mario A.;
    • Narisu, Narisu;
    • Bennett, Derrick
    Publication type:
    Article

  • The GLUT9 Gene Is Associated with Serum Uric Acid Levels in Sardinia and Chianti Cohorts.

    Published in:
    PLoS Genetics, 2007, v. 3, n. 11, p. e194, doi. 10.1371/journal.pgen.0030194
    By:
    • Siguang Li;
    • Sanna, Serena;
    • Maschio, Andrea;
    • Busonero, Fabio;
    • Usala, Gianluca;
    • Mulas, Antonella;
    • Lai, Sandra;
    • Dei, Mariano;
    • Orrú, Marco;
    • Albai, Giuseppe;
    • Bandinelli, Stefania;
    • Schlessinger, David;
    • Lakatta, Edward;
    • Scuteri, Angelo;
    • Najjar, Samer S.;
    • Guralnik, Jack;
    • Naitza, Silvia;
    • Crisponi, Laura;
    • Cao, Antonio;
    • Abecasis, Goçalo
    Publication type:
    Article