Sfoglia per Autore
MYH9 related disease: a novel missense Ala95Asp mutation of the MYH9 gene.
2009-01-01 DE ROCCO, Daniela; Heller, Pg; Girotto, Giorgia; Pastore, A; Glembotsky, Ac; Marta, Rf; Bozzi, V; Pecci, A; Molinas, Fc; Savoia, Anna
MYH9 related disease: four novel mutations of the tail domain of myosin-9 correlating with a mild clinical phenotype
2010-01-01 Pecci, A; Panza, E; DE ROCCO, Daniela; PUJOL MOIX, N; Girotto, Giorgia; Podda, L; Paparo, C; Bozzi, V; Pastore, A; Balduini, Cl; Seri, M; Savoia, Anna
Frequency of hearing loss in a series of rural communities of five developing countries located along the Silk Road
2011-01-01 Girotto, Giorgia; Pirastu, Nicola; Alessandra, Gasparini; D'Adamo, ADAMO PIO; Gasparini, Paolo
Genetics of hearing loss (from congenital forms to presbycusis)
2011-01-01 Dipresa, Savina; Fabretto, Antonella; Girotto, Giorgia; Zadro, Cristina; Gasparini, Paolo
Hearing function and thresholds: a genome-wide association study in European isolated populations identifies new loci and pathways.
2011-01-01 Girotto, Giorgia; Pirastu, Nicola; R., Sorice; G., Biino; H., Campbell; D'Adamo, ADAMO PIO; N. D., Hastie; T., Nutile; O., Polasek; L., Portas; I., Rudan; S., Ulivi; T., Zemunik; A. F., Wright; M., Ciullo; C., Hayward; M., Pirastu; Gasparini, Paolo
GJB2 and GJB6 genes and the A1555G mitochondrial mutation are only minor causes of nonsyndromic hearing loss in the Qatari population
2012-01-01 Khalifa Alkowari, M.; Girotto, Giorgia; Abdulhadi, K.; Dipresa, Savina; Siam, R.; Najjar, N.; Badii, R.; Gasparini, Paolo
Genome-wide meta-analysis of common variant differences between men and women
2012-01-01 V., Boraska; A., Jeroncic; V., Colonna; L., Southam; D. R., Nyholt; N., William Rayner; J. R. B., Perry; D., Toniolo; E., Albrecht; W., Ang; S., Bandinelli; M., Barbalic; I., Barroso; J. S., Beckmann; R., Biffar; D., Boomsma; H., Campbell; T., Corre; J., Erdmann; T., Esko; K., Fischer; N., Franceschini; T. M., Frayling; Girotto, Giorgia; J. R., Gonzalez; T. B., Harris; A. C., Heath; I. M., Heid; W., Hoffmann; A., Hofman; M., Horikoshi; J., Hua Zhao; A. U., Jackson; J. J., Hottenga; A., Jula; M., Kahonen; K. T., Khaw; L. A., Kiemeney; N., Klopp; Z., Kutalik; V., Lagou; L. J., Launer; T., Lehtimaki; M., Lemire; M. L., Lokki; C., Loley; J., Luan; M., Mangino; I., Mateo Leach; S. E., Medland; E., Mihailov; G. W., Montgomery; G., Navis; J., Newnham; M. S., Nieminen; A., Palotie; K., Panoutsopoulou; A., Peters; Pirastu, Nicola; O., Polasek; K., Rehnstrom; S., Ripatti; G. R. S., Ritchie; F., Rivadeneira; Robino, Antonietta; N. J., Samani; S. Y., Shin; J., Sinisalo; J. H., Smit; N., Soranzo; L., Stolk; D. W., Swinkels; T., Tanaka; A., Teumer; A., Tonjes; Traglia, Michela; J., Tuomilehto; A., Valsesia; W. H., van Gilst; J. B. J., van Meurs; A. V., Smith; J., Viikari; J. M., Vink; G., Waeber; N. M., Warrington; E., Widen; G., Willemsen; A. F., Wright; B. W., Zanke; L., Zgaga; M., Boehnke; D'Adamo, ADAMO PIO; E., de Geus; E. W., Demerath; M., den Heijer; J. G., Eriksson; L., Ferrucci; C., Gieger; V., Gudnason; C., Hayward; C., Hengstenberg; T. J., Hudson; M. R., Jarvelin; M., Kogevinas; R. J. F., Loos; N. G., Martin; A., Metspalu; C. E., Pennell; B. W., Penninx; M., Perola; O., Raitakari; V., Salomaa; S., Schreiber; H., Schunkert; T. D., Spector; M., Stumvoll; A. G., Uitterlinden; S., Ulivi; P., van der Harst; P., Vollenweider; H., Volzke; N. J., Wareham; H. E., Wichmann; J. F., Wilson; I., Rudan; Y., Xue; E., Zeggini
Seventy-five genetic loci influencing the human red blood cell.
2012-01-01 van der Harst, P; Zhang, W; Mateo Leach, I; Rendon, A; Verweij, N; Sehmi, J; Paul, Ds; Elling, U; Allayee, H; Li, X; Radhakrishnan, A; Tan, St; Voss, K; Weichenberger, Cx; Albers, Ca; Al Hussani, A; Asselbergs, Fw; Ciullo, M; Danjou, F; Dina, C; Esko, T; Evans, Dm; Franke, L; Gögele, M; Hartiala, J; Hersch, M; Holm, H; Hottenga, Jj; Kanoni, S; Kleber, Me; Lagou, V; Langenberg, C; Lopez, Lm; Lyytikäinen, Lp; Melander, O; Murgia, F; Nolte, Im; O'Reilly, Pf; Padmanabhan, S; Parsa, A; Pirastu, Nicola; Porcu, E; Portas, L; Prokopenko, I; Ried, Js; Shin, Sy; Tang, Cs; Teumer, A; Traglia, Michela; Ulivi, S; Westra, Hj; Yang, J; Zhao, Jh; Anni, F; Abdellaoui, A; Attwood, A; Balkau, B; Bandinelli, S; Bastardot, F; Benyamin, B; Boehm, Bo; Cookson, Wo; Das, D; de Bakker, Pi; de Boer, Ra; de Geus, Ej; de Moor, Mh; Dimitriou, M; Domingues, Fs; Döring, A; Engström, G; Eyjolfsson, Gi; Ferrucci, L; Fischer, K; Galanello, R; Garner, Sf; Genser, B; Gibson, Qd; Girotto, Giorgia; Gudbjartsson, Df; Harris, Se; Hartikainen, Al; Hastie, Ce; Hedblad, B; Illig, T; Jolley, J; Kähönen, M; Kema, Ip; Kemp, Jp; Liang, L; Lloyd Jones, H; Loos, Rj; Meacham, S; Medland, Se; Meisinger, C; Memari, Y; Mihailov, E; Miller, K; Moffatt, Mf; Nauck, M; Novatchkova, M; Nutile, T; Olafsson, I; Onundarson, Pt; Parracciani, D; Penninx, Bw; Perseu, L; Piga, A; Pistis, G; Pouta, A; Puc, U; Raitakari, O; Ring, Sm; Robino, Antonietta; Ruggiero, D; Ruokonen, A; Saint Pierre, A; Sala, C; Salumets, A; Sambrook, J; Schepers, H; Schmidt, Co; Silljé, Hh; Sladek, R; Smit, Jh; Starr, Jm; Stephens, J; Sulem, P; Tanaka, T; Thorsteinsdottir, U; Tragante, V; van Gilst, Wh; van Pelt, Lj; van Veldhuisen, Dj; Völker, U; Whitfield, Jb; Willemsen, G; Winkelmann, Br; Wirnsberger, G; Algra, A; Cucca, F; D'Adamo, ADAMO PIO; Danesh, J; Deary, Ij; Dominiczak, Af; Elliott, P; Fortina, P; Froguel, P; Gasparini, Paolo; Greinacher, A; Hazen, Sl; Jarvelin, Mr; Khaw, Kt; Lehtimäki, T; Maerz, W; Martin, Ng; Metspalu, A; Mitchell, Bd; Montgomery, Gw; Moore, C; Navis, G; Pirastu, M; Pramstaller, Pp; Ramirez Solis, R; Schadt, E; Scott, J; Shuldiner, Ar; Smith, Gd; Smith, Jg; Snieder, H; Sorice, R; Spector, Td; Stefansson, K; Stumvoll, M; Tang, Wh; Toniolo, D; Tönjes, A; Visscher, Pm; Vollenweider, P; Wareham, Nj; Wolffenbuttel, Bh; Boomsma, Di; Beckmann, Js; Dedoussis, Gv; Deloukas, P; Ferreira, Ma; Sanna, S; Uda, M; Hicks, Aa; Penninger, Jm; Gieger, C; Kooner, Js; Ouwehand, Wh; Soranzo, N; Chambers, J. C.
Evidence of Inbreeding Depression on Human Height
2012-01-01 Greg, Gibson; Ruth, Mcquillan; Niina, Eklund; Pirastu, Nicola; Maris, Kuningas; Brian P., Mcevoy; Tõnu, Esko; Tanguy, Corre; Gail, Davies; Marika, Kaakinen; Leo Pekka, Lyytikäinen; Kati, Kristiansson; Aki S., Havulinna; Martin, Gögele; Veronique, Vitart; Albert, Tenesa; Yurii, Aulchenko; Caroline, Hayward; Åsa, Johansson; Mladen, Boban; Sheila, Ulivi; Robino, Antonietta; Vesna, Boraska; Wilmar, Igl; Sarah H., Wild; Lina, Zgaga; Najaf, Amin; Evropi, Theodoratou; Ozren, Polašek; Girotto, Giorgia; Lorna M., Lopez; Cinzia, Sala; Jari, Lahti; Tiina, Laatikainen; Inga, Prokopenko; Mart, Kals; Jorma, Viikari; Jian, Yang; Anneli, Pouta; Karol, Estrada; Albert, Hofman; Nelson, Freimer; Nicholas G., Martin; Mika, Kähönen; Lili, Milani; Markku, Heliövaara; Erkki, Vartiainen; Katri, Räikkönen; Corrado, Masciullo; John M., Starr; Andrew A., Hicks; Laura, Esposito; Ivana, Kolčić; Susan M., Farrington; Ben, Oostra; Tatijana, Zemunik; Harry, Campbell; Mirna, Kirin; Marina, Pehlic; Faletra, Flavio; David, Porteous; Giorgio, Pistis; Elisabeth, Widén; Veikko, Salomaa; Seppo, Koskinen; Krista, Fischer; Terho, Lehtimäki; Andrew, Heath; Mark I., Mccarthy; Fernando, Rivadeneira; Grant W., Montgomery; Henning, Tiemeier; Anna Liisa, Hartikainen; Pamela A. F., Madden; D'Adamo, ADAMO PIO; Nicholas D., Hastie; Ulf, Gyllensten; Alan F., Wright; Cornelia M., van Duijn; Malcolm, Dunlop; Igor, Rudan; Gasparini, Paolo; Peter P., Pramstaller; Ian J., Deary; Daniela, Toniolo; Johan G., Eriksson; Antti, Jula; Olli T., Raitakari; Andres, Metspalu; Markus, Perola; Marjo Riitta, Järvelin; André, Uitterlinden; Peter M., Visscher; James F., Wilson
A novel P2RX2 mutation in an Italian family affected by autosomal dominant nonsyndromic hearing loss
2013-01-01 Flavio, Faletra; Girotto, Giorgia; D'Adamo, ADAMO PIO; Vozzi, Diego; Morgan, Anna; Gasparini, Paolo
Linkage Study and Exome Sequencing Identify a BDP1 Mutation Associated with Hereditary Hearing Loss
2013-01-01 Girotto, Giorgia; K., Abdulhadi; A., Buniello; Vozzi, Diego; Licastro, Danilo; A., D’Eustacchio; Vuckovic, Dragana; M., Khalifa Alkowari; K. P., Steel; R., Badii; Gasparini, Paolo
Maps of open chromatin highlight cell type-restricted patterns of regulatory sequence variation at hematological trait loci.
2013-01-01 Paul, Ds; Albers, Ca; Rendon, A; Voss, K; Stephens, J; Jan Willem N., Akkerman; Cornelis A., Albers; Ale, Algra; Abtehale Al, Hussani; Hooman, Allayee; Franco, Anni; Folkert W., Asselbergs; Antony, Attwood; Beverley, Balkau; Stefania, Bandinelli; François, Bastardot; Saonli, Basu; Sebastian E., Baumeister; Jacques, Beckmann; Beben, Benyamin; Ginevra, Biino; Joshua C., Bis; Lorenzo, Bomba; Amélie, Bonnefond; Dorret I., Boomsma; John R., Bradley; François, Cambien; John C., Chambers; Marina, Ciullo; William O., Cookson; Francesco, Cucca; Ana, Cvejic; D'Adamo, ADAMO PIO; John, Danesh; Fabrice, Danjou; Debashish, Das; Gail, Davies; Paul IW de, Bakker; Rudolf A., de Boer; Eco JC de, Geus; Ian J., Deary; George V., Dedoussis; Panos, Deloukas; Maria, Dimitriou; Christian, Dina; Angela, Döring; Ulrich, Elling; David, Ellinghaus; Paul, Elliott; Gunnar, Engström; Jeanette, Erdmann; Tõnu, Esko; David M., Evans; Gudmundur I., Eyjolfsson; Mario, Falchi; Wei, Feng; Manuel A., Ferreira; Luigi, Ferrucci; Krista, Fischer; Aaron R., Folsom; Paolo, Fortina; Andre, Franke; Lude, Franke; Ian H., Frazer; Philippe, Froguel; Renzo, Galanello; Santhi K., Ganesh; Stephen F., Garner; Gasparini, Paolo; Bernd, Genser; Quince D., Gibson; Christian, Gieger; Girotto, Giorgia; Nicole L., Glazer; Martin, Gögele; Alison H., Goodall; Andreas, Greinacher; Daniel F., Gudbjartsson; Chris, Hammond; Sarah E., Harris; Jaana, Hartiala; Anna Liisa, Hartikainen; Stanley L., Hazen; Susan R., Heckbert; Bo, Hedblad; Christian, Hengstenberg; Micha, Hersch; Andrew A., Hicks; Hilma, Holm; Jouke Jan, Hottenga; Thomas, Illig; Marjo Riitta, Jarvelin; Jennifer, Jolley; Steve, Jupe; Mika, Kähönen; Naoyuki, Kamatani; Stavroula, Kanoni; Ido P., Kema; John P., Kemp; Jyoti, Khadake; Kay Tee, Khaw; Marcus E., Kleber; Jaspal S., Kooner; Peter, Kovacs; Brigitte, Kühnel; Marie Christine, Kyrtsonis; Yann, Labrune; Vasiliki, Lagou; Claudia, Langenberg; Terho, Lehtimäki; Xinzhong, Li; Liming, Liang; Lifelines Cohort, Study; Heather Lloyd, Jones; Ruth JF, Loos; Lorna M., Lopez; Thomas, Lumley; Leo Pekka, Lyytikäinen; Winfried, Maerz; Reedik, Mägi; Massimo, Mangino; Nicholas G., Martin; Andrea, Maschio; Irene Mateo, Leach; Barbara, Mcknight; Stuart, Meacham; Sarah E., Medland; Christa, Meisinger; Olle, Melander; Yasin, Memari; Andres, Metspalu; Kathy, Miller; Braxton D., Mitchell; Miriam F., Moffatt; Grant W., Montgomery; Carmel, Moore; Federico, Murgia; Yusuke, Nakamura; Matthias, Nauck; Gerjan, Navis; Ilja M., Nolte; Ute, Nöthlings; Teresa, Nutile; Yukinori, Okada; Isleifur, Olafsson; Pall T., Onundarson; Paul F., O’Reilly; Willem H., Ouwehand; Debora, Parracciani; Afshin, Parsa; Dirk S., Paul; Josef M., Penninger; Brenda W., Penninx; Mario, Pirastu; Pirastu, Nicola; Giorgio, Pistis; Eleonora, Porcu; Laura, Portas; David, Porteous; Anneli, Pouta; Peter P., Pramstaller; Inga, Prokopenko; Bruce M., Psaty; Janne, Pullat; Aparna, Radhakrishnan; Olli, Raitakari; Ramiro Ramirez, Solis; Augusto, Rendon; Janina S., Ried; Susan M., Ring; Robino, Antonietta; Jerome I., Rotter; Daniela, Ruggiero; Aimo, Ruokonen; Cinzia, Sala; Andres, Saluments; Nilesh J., Samani; Jennifer, Sambrook; Serena, Sanna; David, Schlessinger; Carsten O., Schmidt; Stefan, Schreiber; Heribert, Schunkert; James, Scott; Joban, Sehmi; Jovana Serbanovic, Canic; So Youn, Shin; Alan R., Shuldiner; Rob, Sladek; Johannes H., Smit; George Davey, Smith; J., Gustav Smith; Nicholas L., Smith; Harold, Snieder; Nicole, Soranzo; Rossella, Sorice; Timothy D., Spector; John M., Starr; Kari, Stefansson; Derek, Stemple; Jonathan, Stephens; Michael, Stumvoll; Patrick, Sulem; Atsushi, Takahashi; Sian Tsung, Tan; Toshiko, Tanaka; Clara, Tang; Weihong, Tang; WH Wilson, Tang; Kent, Taylor; Albert, Tenesa; Alexander, Teumer; Swee Lay, Thein; Unnur, Thorsteinsdottir; Daniela, Toniolo; Anke, Tönjes; Traglia, Michela; Manuela, Uda; Sheila, Ulivi; Pim van der, Harst; C., Ellen van der Schoot; Wiek H., van Gilst; L., Joost van Pelt; Dirk J., van Veldhuisen; Niek, Verweij; Peter M., Visscher; Uwe, Völker; Peter, Vollenweider; Katrin, Voss; Nicholas J., Wareham; Lorenz, Wernisch; Harm Jan, Westra; John B., Whitfield; Herich, Wichmann; Kerri L., Wiggins; Gonneke, Willemsen; Bernhard R., Winkelmann; Gerald, Wirnsberger; Bruce HR, Wolffenbuttel; Jian, Yang; Tsun Po, Yang; Weihua, Zhang; Jing Hua, Zhao; Paavo, Zitting; Jaap Jan, Zwaginga; van der Harst, P; Chambers, Jc; Soranzo, N; Ouwehand, Wh; Deloukas, P.
Meta-analysis of genome-wide association studies identifies six new Loci for serum calcium concentrations.
2013-01-01 O'Seaghdha, Cm; Wu, H; Yang, Q; Kapur, K; Guessous, I; Zuber, Am; Köttgen, A; Stoudmann, C; Teumer, A; Kutalik, Z; Mangino, M; Dehghan, A; Zhang, W; Eiriksdottir, G; Li, G; Tanaka, T; Portas, L; Lopez, Lm; Hayward, C; Lohman, K; Matsuda, K; Padmanabhan, S; Firsov, D; Sorice, R; Ulivi, S; Brockhaus, Ac; Kleber, Me; Mahajan, A; Ernst, Fd; Gudnason, V; Launer, Lj; Mace, A; Boerwinckle, E; Arking, De; Tanikawa, C; Nakamura, Y; Brown, Mj; Gaspoz, Jm; Theler, Jm; Siscovick, Ds; Psaty, Bm; Bergmann, S; Vollenweider, P; Vitart, V; Wright, Af; Zemunik, T; Boban, M; Kolcic, I; Navarro, P; Brown, Em; Estrada, K; Ding, J; Harris, Tb; Bandinelli, S; Hernandez, D; Singleton, Ab; Girotto, Giorgia; Ruggiero, D; D'Adamo, ADAMO PIO; Robino, Antonietta; Meitinger, T; Meisinger, C; Davies, G; Starr, Jm; Chambers, Jc; Boehm, Bo; Winkelmann, Br; Huang, J; Murgia, F; Wild, Sh; Campbell, H; Morris, Ap; Franco, Oh; Hofman, A; Uitterlinden, Ag; Rivadeneira, F; Völker, U; Hannemann, A; Biffar, R; Hoffmann, W; Shin, Sy; Lescuyer, P; Henry, H; Schurmann, C; Munroe, Pb; Gasparini, Paolo; Pirastu, Nicola; Ciullo, M; Gieger, C; März, W; Lind, L; Spector, Td; Smith, Av; Rudan, I; Wilson, Jf; Polasek, O; Deary, Ij; Pirastu, M; Ferrucci, L; Liu, Y; Kestenbaum, B; Kooner, Js; Witteman, Jc; Nauck, M; Kao, Wh; Wallaschofski, H; Bonny, O; Fox, Cs; Bochud, M; Sunlight, Consortium; Gefos, Consortium
Estrogen-related receptor gamma and hearing function: evidence of a role in humans and mice
2013-01-01 Lisa S., Nolan; Hannes, Maier; Irm Hermans, Borgmeyer; Girotto, Giorgia; Russell, Ecob; Pirastu, Nicola; Barbara A., Cadge; Christian, Hübner; Gasparini, Paolo; David P., Strachan; Adrian, Davis; Sally J., Dawson
Lifestyle and normal hearing function in Italy and Central Asia: The potential role of coffee
2013-01-01 Vuckovic, Dragana; G., Biino; F., Panu; M., Pirastu; Gasparini, Paolo; Girotto, Giorgia
Age-related hearing loss and level of education: an epidemiological study on a large cohort of isolated popu-lations
2014-01-01 Vuckovic, Dragana; G., Biino; F., Panu; M., Pirastu; Gasparini, Paolo; Girotto, Giorgia
Hereditary hearing loss: a 96 gene targeted sequencing protocol reveals novel alleles in a series of Italian and Qatari patients
2014-01-01 Vozzi, Diego; Morgan, Anna; Vuckovic, Dragana; A., D'Eustacchio; K., Abdulhadi; E., Rubinato; R., Badii; Gasparini, Paolo; Girotto, Giorgia
Genetic landscape of populations along the Silk Road: admixture and migration patterns
2014-01-01 Mezzavilla, Massimo; Vozzi, Diego; Pirastu, Nicola; Girotto, Giorgia; D'Adamo, ADAMO PIO; Gasparini, Paolo; Colonna, Vincenza
Consanguinity and Hereditary Hearing Loss in Qatar
2014-01-01 Girotto, Giorgia; Mezzavilla, Massimo; Khalid, Abdulhadi; Vuckovic, Dragana; Vozzi, Diego; Moza Khalifa, Alkowari; Gasparini, Paolo; Ramin, Badii
Salt-inducible kinase 3, SIK3, is a new gene associated with hearing.
2014-01-01 Wolber, Le; Girotto, Giorgia; Buniello, A; Vuckovic, Dragana; Pirastu, Nicola; Lorente Cánovas, B; Rudan, I; Hayward, C; Polasek, O; Ciullo, M; Mangino, M; Steves, C; Concas, MARIA PINA; Cocca, Massimiliano; Spector, Td; Gasparini, Paolo; Steel, Kp; Williams, Fm
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