Hearing function and thresholds: a genome-wide association study in European isolated populations identifies new loci and pathways von Girotto, Giorgia, Pirastu, Nicola, Sorice, Rossella, Biino, Ginevra, Campbell, Harry, d'Adamo, Adamo P, Hastie, Nicholas D, Nutile, Teresa, Polasek, Ozren, Portas, Laura, Rudan, Igor, Ulivi, Sheila, Zemunik, Tatijana, Wright, Alan F, Ciullo, Marina, Hayward, Caroline, Pirastu, Mario, Gasparini, Paolo

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Probing the factor structure of metabolic syndrome in Sardinian genetic isolates von Graziano, F, Grassi, M, Sacco, S, Concas, M.P, Vaccargiu, S, Pirastu, M, Biino, G

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Mapping, cloning and genetic characterization of the region containing the Wilson disease gene von Gilliam, T.C, Matseoane, D, Parano, E, Sternlieb, I, Evgrafov, O, Boukhgalter, B, Russo, J. J, Brzustowicz, L. M, Wasco, W, Pirastu, M, Penchaszadeh, G. K, Fischer, S. G, Cayanis, E, Scheinberg, I. H, Cao, A, Figus, A. L, Loudianos, J, Vitale, E, Petrukhin, K, Warburton, D, Ott, J, Pavone, L, Devoto, M, Tanzi, R.E, Chernov, I

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The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene von Tanzi, R.E, Petrukhin, K, Chernov, I, Pellequer, J.L, Wasco, W, Ross, B, Romano, D.M, Parano, E, Pavone, L, Brzustowicz, L.M, Devoto, M, Peppercorn, J, Bush, A.I, Sternlieb, I, Pirastu, M, Gusella, J.F, Evgrafov, O, Penchaszadeh, G.K, Honig, B, Edelman, I.S, Soares, M.B, Scheinberg, I.H, Gilliam, T.C

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Bitter taste study in a sardinian genetic isolate supports the association of phenylthiocarbamide sensitivity to the TAS2R38 bitter receptor gene von PRODI, D. A, DRAYNA, D, FORABOSCO, P, PALMAS, M. A, MAESTRALE, G. B, PIRAS, D, PIRASTU, M, ANGIUS, A

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Detection of Occult Melanoma Cells in Paraffin-Embedded Histologically Negative Sentinel Lymph Nodes Using a Reverse Transcriptase Polymerase Chain Reaction Assay von PALMIERI, Giuseppe, ASCIERTO, Paolo A, LISSIA, Amelia, TANDA, Francesco, PIRASTU, Mario, CASTELLO, Giuseppe, COSSU, Antonio, MOZZILLO, Nicola, MOTTI, Maria L, SATRIANO, Sabrina M. R, BOTTI, Gerardo, CARACO, Corrado, CELENTANO, Egidio, SATRIANO, Rocco A

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Analysis of 12,517 inhabitants of a Sardinian geographic isolate reveals that predispositions to thrombocytopenia and thrombocytosis are inherited traits von BIINO, Ginevra, BALDUINI, Carlo L, CASULA, Laura, CAVALLO, Piergiorgio, VACCARGIU, Simona, PARRACCIANI, Debora, SERRA, Donatella, PORTAS, Laura, MURGIA, Federico, PIRASTU, Mario

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Mutation analysis in patients of Mediterranean descent with Wilson disease: identification of 19 novel mutations von Loudianos, Georgios, Dessi, Valeria, Lovicu, Mario, Angius, Andrea, Altuntas, Buket, Giacchino, Raffaella, Marazzi, Maria, Marcellini, Matilde, Sartorelli, Maria Rita, Sturniolo, Giacomo Carlo, Kocak, Nurten, Yuce, Aysel, Akar, Nejat, Pirastu, Mario, Cao, Antonio

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Archival, demographic and genetic studies define a Sardinian sub-isolate as a suitable model for mapping complex traits von ANGIUS, Andrea, MELIS, Paola M, MORELLI, Laura, PETRETTO, Enrico, CASU, Giuseppina, MAESTRALE, Giovanni Battista, FRAUMENE, Cristina, BEBBERE, Daniela, FORABOSCO, Paola, PIRASTU, Mario

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Extent of linkage disequilibrium in a Sardinian sub-isolate: sampling and methodological considerations von Tenesa, A., Wright, A.F., Knott, S.A., Carothers, A.D., Hayward, C., Angius, A., Persico, I., Maestrale, G., Hastie, N.D., Pirastu, M., Visscher, P.M.

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A45 ASTHMA EPIDEMIOLOGY: Respiratory/allergic Disorders In Two Different Italian Areas von Simoni, M, Maio, S, Biino, G, Pirastu, M, Baldacci, S, Cerrai, S, Sarno, G, Viegi, G

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Definition of the role of chromosome 9p21 in sporadic melanoma through genetic analysis of primary tumours and their metastases von PALMIERI, G, COSSU, A, PIRASTU, M, CASTELLO, G, ASCIERTO, P. A, BOTTI, G, STRAZZULLO, M, LISSIA, A, COLOMBINO, M, CASULA, M, FLORIS, C, TANDA, F

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Population choice in mapping genes for complex diseases von Wright, Alan F, Carothers, Andrew D, Pirastu, Mario

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A common variant in RAB27A gene is associated with fractional exhaled nitric oxide levels in adults von Bouzigon, E., Nadif, R., Thompson, E. E., Concas, M.P., Kuldanek, S., Du, G., Brossard, M., Lavielle, N., Sarnowski, C., Vaysse, A., Dessen, P., van der Valk, R.J.P., Duijts, L., Henderson, A.J., Jaddoe, V.W.V., de Jongste, J.C., Casula, S., Biino, G., Dizier, M.-H., Pin, I., Matran, R., Lathrop, M., Pirastu, M., Demenais, F., Ober, C.

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Identification of a founder BRCA2 mutation in Sardinia von PISANO, M, COSSU, A, OLMEO, N, PASCA, A, BUDRONI, M, MARRAS, V, PISANO, A, FARRIS, A, MASSARELLI, G, PIRASTU, M, TANDA, F, PERSICO, I, PALMIERI, G, ANGIUS, A, CASU, G, PALOMBA, G, SAROBBA, M. G, OSSU ROCCA, P. C, DEDOLA, M. F

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A common beta ig-h3 gene mutation (delta f540) in a large cohort of Sardinian Reis Bücklers corneal dystrophy patients. Mutations in brief no. 180. Online von Rozzo, C, Fossarello, M, Galleri, G, Sole, G, Serru, A, Orzalesi, N, Serra, A, Pirastu, M

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Epidemiology of Osteoporosis in an Isolated Sardinian Population by Using Quantitative Ultrasound von Biino, Ginevra, Casula, Laura, de Terlizzi, Francesca, Adamo, Mauro, Vaccargiu, Simona, Francavilla, Marcella, Loi, Davide, Casti, Alberto, Atzori, Manuela, Pirastu, Mario

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Bitter Taste Study ina Sardinian Genetic Isolate Supports the Association of Phenylthiocarbamide Sensitivityto the TAS2R38 Bitter Receptor Gene von Prodi, D.A., Drayna, D., Forabosco, P., Palmas, M.A., Maestrale, G.B., Piras, D., Pirastu, M., Angius, A.

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Striking differentiation of sub-populations within a genetically homogeneous isolate (Ogliastra) in Sardinia as revealed by mtDNA analysis von FRAUMENE, Cristina, PETRETTO, Enrico, ANGIUS, Andrea, PIRASTU, Mario

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Ocular refraction: heritability and genome-wide search for eye morphometry traits in an isolated Sardinian population von BIINO, Ginevra, PALMAS, Maria Antonietta, CORONA, Carla, PRODI, Dionigio, FANCIULLI, Manuela, SULIS, Roberta, SERRA, Antonina, FOSSARELLO, Maurizio, PIRASTU, Mario

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