MATCHCLIP: locate precise breakpoints for copy number variation using CIGAR string by matching soft clipped reads

Por Wu, Yinghua, Tian, Lifeng, Pirastu, Mario, Stambolian, Dwight, Li, Hongzhe
Publicado em 2013

Environmental and Genetic Contribution to Hypertension Prevalence: Data from an Epidemiological Survey on Sardinian Genetic Isolates

Por Biino, Ginevra, Parati, Gianfranco, Concas, Maria Pina, Adamo, Mauro, Angius, Andrea, Vaccargiu, Simona, Pirastu, Mario
Publicado em 2013

Phylogeny and Patterns of Diversity of Goat mtDNA Haplogroup A Revealed by Resequencing Complete Mitogenomes

Por Doro, Maria Grazia, Piras, Daniela, Leoni, Giovanni Giuseppe, Casu, Giuseppina, Vaccargiu, Simona, Parracciani, Debora, Naitana, Salvatore, Pirastu, Mario, Novelletto, Andrea
Publicado em 2014

A strategy analysis for genetic association studies with known inbreeding

Por del Giacco Stefano, Casula Laura, Sassu Alessandro, Persico Ivana, Biino Ginevra, Castellanos Maria, Cabras Stefano, Bertolino Francesco, Pirastu Mario, Pirastu Nicola
Publicado em 2011-07-01

A Genomewide Search Using an Original Pairwise Sampling Approach for Large Genealogies Identifies a New Locus for Total and Low-Density Lipoprotein Cholesterol in Two Genetically D...

Por Falchi, Mario, Forabosco, Paola, Mocci, Evelina, Borlino, Cesare Cappio, Picciau, Andrea, Virdis, Emanuela, Persico, Ivana, Parracciani, Debora, Angius, Andrea, Pirastu, Mario
Publicado em 2004

Browsing Isolated Population Data

Por Mancosu, Gianmaria, Cosso, Massimiliano, Marras, Francesca, Borlino, Cesare Cappio, Ledda, Giuseppe, Manias, Teresa, Adamo, Mauro, Serra, Donatella, Melis, Paola, Pirastu, Mario
Publicado em 2005

Analysis of 12,517 inhabitants of a Sardinian geographic isolate reveals that predispositions to thrombocytopenia and thrombocytosis are inherited traits

Por Biino, Ginevra, Balduini, Carlo L., Casula, Laura, Cavallo, Piergiorgio, Vaccargiu, Simona, Parracciani, Debora, Serra, Donatella, Portas, Laura, Murgia, Federico, Pirastu, Mario
Publicado em 2011

A strategy analysis for genetic association studies with known inbreeding

Por Cabras, Stefano, Castellanos, Maria Eugenia, Biino, Ginevra, Persico, Ivana, Sassu, Alessandro, Casula, Laura, del Giacco, Stefano, Bertolino, Francesco, Pirastu, Mario, Pirastu, Nicola
Publicado em 2011

Dissecting metabolic syndrome components: data from an epidemiologic survey in a genetic isolate

Por Biino, Ginevra, Concas, Maria Pina, Cena, Hellas, Parracciani, Debora, Vaccargiu, Simona, Cosso, Massimiliano, Marras, Francesca, D’Esposito, Vittoria, Beguinot, Francesco, Pirastu, Mario
Publicado no Springerplus (2015)

Identification of a New Candidate Locus for Uric Acid Nephrolithiasis

Por Ombra, Maria Neve, Forabosco, Paola, Casula, Stefania, Angius, Andrea, Maestrale, Gianbattista, Petretto, Enrico, Casu, Giuseppina, Colussi, Giacomo, Usai, Enzo, Melis, Paola, Pirastu, Mario
Publicado em 2001

A New Essential Hypertension Susceptibility Locus on Chromosome 2p24-p25, Detected by Genomewide Search

Por Angius, Andrea, Petretto, Enrico, Maestrale, Giovanni Battista, Forabosco, Paola, Casu, Giuseppina, Piras, Daniela, Fanciulli, Manuela, Falchi, Mario, Melis, Paola Maria, Palermo, Mario, Pirastu, Mario
Publicado em 2002

Whole-genome sequencing reveals new insights into age-related hearing loss: cumulative effects, pleiotropy and the role of selection

Por Vuckovic, Dragana, Mezzavilla, Massimo, Cocca, Massimiliano, Morgan, Anna, Brumat, Marco, Catamo, Eulalia, Concas, Maria Pina, Biino, Ginevra, Franzè, Annamaria, Ambrosetti, Umberto, Pirastu, Mario, Gasparini, Paolo, Girotto, Giorgia
Publicado no Eur J Hum Genet (2018)

Identification of a Novel Gene and a Common Variant Associated with Uric Acid Nephrolithiasis in a Sardinian Genetic Isolate

Por Gianfrancesco, Fernando, Esposito, Teresa, Ombra, Maria Neve, Forabosco, Paola, Maninchedda, Giuseppe, Fattorini, Mauro, Casula, Stefania, Vaccargiu, Simona, Casu, Giuseppina, Cardia, Francesco, Deiana, Ivo, Melis, Paola, Falchi, Mario, Pirastu, Mario
Publicado em 2003

High Differentiation among Eight Villages in a Secluded Area of Sardinia Revealed by Genome-Wide High Density SNPs Analysis

Por Pistis, Giorgio, Piras, Ignazio, Pirastu, Nicola, Persico, Ivana, Sassu, Alessandro, Picciau, Andrea, Prodi, Dionigio, Fraumene, Cristina, Mocci, Evelina, Manias, Maria Teresa, Atzeni, Rossano, Cosso, Massimiliano, Pirastu, Mario, Angius, Andrea
Publicado em 2009

Alteration of Liver Enzymes Is a Feature of the Myh9-Related Disease Syndrome

Por Pecci, Alessandro, Biino, Ginevra, Fierro, Tiziana, Bozzi, Valeria, Mezzasoma, Annamaria, Noris, Patrizia, Ramenghi, Ugo, Loffredo, Giuseppe, Fabris, Fabrizio, Momi, Stefania, Magrini, Umberto, Pirastu, Mario, Savoia, Anna, Balduini, Carlo, Gresele, Paolo
Publicado em 2012

Microsatellites and SNPs linkage analysis in a Sardinian genetic isolate confirms several essential hypertension loci previously identified in different populations

Por Mocci, Evelina, Concas, Maria P, Fanciulli, Manuela, Pirastu, Nicola, Adamo, Mauro, Cabras, Valentina, Fraumene, Cristina, Persico, Ivana, Sassu, Alessandro, Picciau, Andrea, Prodi, Dionigio A, Serra, Donatella, Biino, Ginevra, Pirastu, Mario, Angius, Andrea
Publicado em 2009

Application of a New Method for GWAS in a Related Case/Control Sample with Known Pedigree Structure: Identification of New Loci for Nephrolithiasis

Por Tore, Silvia, Casula, Stefania, Casu, Giuseppina, Concas, Maria Pina, Pistidda, Paola, Persico, Ivana, Sassu, Alessandro, Maestrale, Giovanni Battista, Mele, Caterina, Caruso, Maria Rosa, Bonerba, Bibiana, Usai, Paolo, Deiana, Ivo, Thornton, Timothy, Pirastu, Mario, Forabosco, Paola
Publicado em 2011

Genome-wide association analysis on normal hearing function identifies PCDH20 and SLC28A3 as candidates for hearing function and loss

Por Vuckovic, Dragana, Dawson, Sally, Scheffer, Deborah I., Rantanen, Taina, Morgan, Anna, Di Stazio, Mariateresa, Vozzi, Diego, Nutile, Teresa, Concas, Maria P., Biino, Ginevra, Nolan, Lisa, Bahl, Aileen, Loukola, Anu, Viljanen, Anne, Davis, Adrian, Ciullo, Marina, Corey, David P., Pirastu, Mario, Gasparini, Paolo, Girotto, Giorgia
Publicado no Hum Mol Genet (2015)

Age- And Sex-Related Variations in Platelet Count in Italy: A Proposal of Reference Ranges Based on 40987 Subjects' Data

Por 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.
Publicado em 2013

A Common variant in RAB27A gene is associated with fractional exhaled nitric oxide levels in adults

Por Bouzigon, Emmanuelle, Nadif, Rachel, Thompson, Emma E., Concas, Maria Pina, Kuldanek, Susan, Du, Gaixin, Brossard, Myriam, Lavielle, Nolwenn, Sarnowski, Chloé, Vaysse, Amaury, Dessen, Philippe, van der Valk, Ralf JP, Duijts, Liesbeth, Henderson, A John, Jaddoe, Vincent WV, de Jongste, Johan C, Dizier, Marie-Hélène, Pin, Isabelle, Matran, Régis, Lathrop, Mark, Pirastu, Mario, Demenais, Florence, Ober, Carole
Publicado no Clin Exp Allergy (2015)