CRISPONI, LAURA
CRISPONI, LAURA
A genome-wide association scan on the levels of markers of inflammation in Sardinians reveals associations that underpin its complex regulation
2012-01-01 Naitza, S; Porcu, E; Steri, M; Taub, Dd; Mulas, A; Xiao, X; Strait, J; Dei, M; Lai, S; Busonero, F; Maschio, A; Usala, G; Zoledziewska, M; Sidore, C; Zara, I; Pitzalis, M; Loi, A; Virdis, Francesca; Piras, R; Deidda, F; Whalen, MICHAEL BERNARD; Crisponi, Laura; Concas, A; Podda, C; Uzzau, S; Scheet, P; Longo, Dl; Lakatta, E; Abecasis, Gr; Cao, A; Schlessinger, D; Uda, M; Sanna, S; Cucca, F.
A genome-wide association search for type 2 diabetes genes in African Americans
2012-01-01 Palmer, Nd; Mcdonough, Cw; Hicks, Pj; Roh, Bh; Wing, Mr; An, Ss; Hester, Jm; Cooke, Jn; Bostrom, Ma; Rudock, Me; Talbert, Me; Lewis, Jp; Diagram, Consortium; Magic, Investigators; Ferrara, A; Lu, L; Ziegler, Jt; Sale, Mm; Divers, J; Shriner, D; Adeyemo, A; Rotimi, Cn; Ng, Mc; Langefeld, Cd; Freedman, Bi; Bowden, Dw; Voight, Bf; Scott, Lj; Steinthorsdottir, V; Morris, Ap; Dina, C; Welch, Rp; Zeggini, E; Huth, C; Aulchenko, Ys; Thorleifsson, G; Mcculloch, Lj; Ferreira, T; Grallert, H; Amin, N; Wu, G; Willer, Cj; Raychaudhuri, S; Mccarroll, Sa; Langenberg, C; Hofmann, Om; Dupuis, J; Qi, L; Segrè, Av; van Hoek, M; Navarro, P; Ardlie, K; Balkau, B; Benediktsson, R; Bennett, Aj; Blagieva, R; Boerwinkle, E; Bonnycastle, Ll; Boström, Kb; Bravenboer, B; Bumpstead, S; Burtt, Np; Charpentier, G; Chines, Ps; Cornelis, M; Couper, Dj; Crawford, G; Doney, As; Elliott, Ks; Elliott, Al; Erdos, Mr; Fox, Cs; Franklin, Cs; Ganser, M; Gieger, C; Grarup, N; Green, T; Griffin, S; Groves, Cj; Guiducci, C; Hadjadj, S; Hassanali, N; Herder, C; Isomaa, B; Jackson, Au; Johnson, Pr; Jørgensen, T; Kao, Wh; Klopp, N; Kong, A; Kraft, P; Kuusisto, J; Lauritzen, T; Li, M; Lieverse, A; Lindgren, Cm; Lyssenko, V; Marre, M; Meitinger, T; Midthjell, K; Morken, Ma; Narisu, N; Nilsson, P; Owen, Kr; Payne, F; Perry, Jr; Petersen, Ak; Platou, C; Proença, C; Prokopenko, I; Rathmann, W; Rayner, Nw; Robertson, Nr; Rocheleau, G; Roden, M; Sampson, Mj; Saxena, R; Shields, Bm; Shrader, P; Sigurdsson, G; Sparsø, T; Strassburger, K; Stringham, Hm; Sun, Q; Swift, Aj; Thorand, B; Tichet, J; Tuomi, T; van Dam, Rm; van Haeften, Tw; van Herpt, T; van Vliet Ostaptchouk, Jv; Walters, Gb; Weedon, Mn; Wijmenga, C; Witteman, J; Bergman, Rn; Cauchi, S; Collins, Fs; Gloyn, Al; Gyllensten, U; Hansen, T; Hide, Wa; Hitman, Ga; Hofman, A; Hunter, Dj; Hveem, K; Laakso, M; Mohlke, Kl; Morris, Ad; Palmer, Cn; Pramstaller, Pp; Rudan, I; Sijbrands, E; Stein, Ld; Tuomilehto, J; Uitterlinden, A; Walker, M; Wareham, Nj; Watanabe, Rm; Abecasis, Gr; Boehm, Bo; Campbell, H; Daly, Mj; Hattersley, At; Hu, Fb; Meigs, Jb; Pankow, Js; Pedersen, O; Wichmann, He; Barroso, I; Florez, Jc; Frayling, Tm; Groop, L; Sladek, R; Thorsteinsdottir, U; Wilson, Jf; Illig, T; Froguel, P; van Duijn, Cm; Stefansson, K; Altshuler, D; Boehnke, M; Mccarthy, Mi; Soranzo, N; Wheeler, E; Glazer, Nl; Bouatia Naji, N; Mägi, R; Randall, J; Johnson, T; Elliott, P; Rybin, D; Henneman, P; Dehghan, A; Hottenga, Jj; Song, K; Goel, A; Egan, Jm; Lajunen, T; Doney, A; Kanoni, S; Cavalcanti Proença, C; Kumari, M; Timpson, Nj; Zabena, C; Ingelsson, E; An, P; O'Connell, J; Luan, J; Elliott, A; Mccarroll, Sa; Roccasecca, Rm; Pattou, F; Sethupathy, P; Ariyurek, Y; Barter, P; Beilby, Jp; Ben Shlomo, Y; Bergmann, S; Bochud, M; Bonnefond, A; Borch Johnsen, K; Böttcher, Y; Brunner, E; Bumpstead, Sj; Chen, Yd; Chines, P; Clarke, R; Coin, Lj; Cooper, Mn; Crisponi, Laura; Day, In; de Geus, Ej; Delplanque, J; Fedson, Ac; Fischer Rosinsky, A; Forouhi, Ng; Frants, R; Franzosi, Mg; Galan, P; Goodarzi, Mo; Graessler, J; Grundy, S; Gwilliam, R; Hallmans, G; Hammond, N; Han, X; Hartikainen, Al; Hayward, C; Heath, Sc; Hercberg, S; Hicks, Aa; Hillman, Dr; Hingorani, Ad; Hui, J; Hung, J; Jula, A; Kaakinen, M; Kaprio, J; Kesaniemi, Ya; Kivimaki, M; Knight, B; Koskinen, S; Kovacs, P; Kyvik, Ko; Lathrop, Gm; Lawlor, Da; Le Bacquer, O; Lecoeur, C; Li, Y; Mahley, R; Mangino, M; Manning, Ak; Martínez Larrad, Mt; Mcateer, Jb; Mcpherson, R; Meisinger, C; Melzer, D; Meyre, D; Mitchell, Bd; Mukherjee, S; Naitza, S; Neville, Mj; Oostra, Ba; Orrù, M; Pakyz, R; Paolisso, G; Pattaro, C; Pearson, D; Peden, Jf; Pedersen, Nl; Perola, M; Pfeiffer, Af; Pichler, I; Polasek, O; Posthuma, D; Potter, Sc; Pouta, A; Province, Ma; Psaty, Bm; Rayner, Nw; Rice, K; Ripatti, S; Rivadeneira, F; Rolandsson, O; Sandbaek, A; Sandhu, M; Sanna, S; Sayer, Aa; Scheet, P; Seedorf, U; Sharp, Sj; Shields, B; Sijbrands, Ej; Silveira, A; Simpson, L; Singleton, A; Smith, Nl; Sovio, U; Swift, A; Syddall, H; Syvänen, Ac; Tanaka, T; Tönjes, A; Uitterlinden, Ag; van Dijk, Kw; Varma, D; Visvikis Siest, S; Vitart, V; Vogelzangs, N; Waeber, G; Wagner, Pj; Walley, A; Ward, Kl; Watkins, H; Wild, Sh; Willemsen, G; Witteman, Jc; Yarnell, Jw; Zelenika, D; Zethelius, B; Zhai, G; Zhao, Jh; Zillikens, Mc; Borecki, Ib; Loos, Rj; Meneton, P; Magnusson, Pk; Nathan, Dm; Williams, Gh; Silander, K; Salomaa, V; Smith, Gd; Bornstein, Sr; Schwarz, P; Spranger, J; Karpe, F; Shuldiner, Ar; Cooper, C; Dedoussis, Gv; Serrano Ríos, M; Lind, L; Palmer, Lj; Franks, Pw; Ebrahim, S; Marmot, M; Kao, Wh; Pramstaller, Pp; Wright, Af; Stumvoll, M; Hamsten, A; Buchanan, Ta; Valle, Tt; Rotter, Ji; Siscovick, Ds; Penninx, Bw; Boomsma, Di; Deloukas, P; Spector, Td; Ferrucci, L; Cao, A; Scuteri, A; Schlessinger, D; Uda, M; Ruokonen, A; Jarvelin, Mr; Waterworth, Dm; Vollenweider, P; Peltonen, L; Mooser, V; Sladek, R.
A Novel Null Homozygous Mutation Confirms CACNA2D2 as a Gene Mutated in Epileptic Encephalopathy
2013-01-01 Pippucci, T.; Parmeggiani, A.; Palombo, F.; Maresca, A.; Angius, A.; Crisponi, Laura; Cucca, F.; Liguori, R.; Valentino, M. L.; Seri, M.; Carelli, V.
A role of BRCA1 and BRCA2 germline mutations in breast cancer susceptibility within Sardinian population
2009-01-01 Palomba, G; Loi, A; Uras, A; Fancello, P; Piras, G; Gabbas, A; Cossu, A; Budroni, M; Contu, A; Tanda, F; Farris, A; Orrù, S; Floris, C; Pisano, M; Lovicu, M; Santona, Mc; Landriscina, G; Crisponi, Laura; Palmieri, G; Monne, M.
Aging of oocyte, ovary, and human reproduction
2004-01-01 Ottolenghi, C; Uda, M; Hamatani, T; Crisponi, Laura; Garcia, Je; Ko, M; Pilia, G; Sforza, C; Schlessinger, D; Forabosco, A.
Analysis of exon/intron structure and 400 kb of genomic sequence surrounding the 5'-promoter and 3'-terminal ends of the human glypican 3 (GPC3) gene
1997-01-01 Huber, R; Crisponi, Laura; Mazzarella, R; Chen, Cn; Su, Y; Shizuya, H; Chen, Ey; Cao, A; Pilia, G.
Association of adiposity genetic variants with menarche timing in 92,105 women of European descent
2013-01-01 Fernández Rhodes, L; Crisponi, Laura; Cousminer, Dl; Tao, R; Dreyfus, Jg; Esko, T; Smith, Av; Gudnason, V; Harris, Tb; Launer, L; Mcardle, Pf; Yerges Armstrong, Lm; Elks, Ce; Strachan, Dp; Kutalik, Z; Vollenweider, P; Feenstra, B; Boyd, Ha; Metspalu, A; Mihailov, E; Broer, L; Zillikens, Mc; Oostra, B; van Duijn, Cm; Lunetta, Kl; Perry, Jr; Murray, A; Koller, Dl; Lai, D; Corre, T; Toniolo, D; Albrecht, E; Stöckl, D; Grallert, H; Gieger, C; Hayward, C; Polasek, O; Rudan, I; Wilson, Jf; He, C; Kraft, P; Hu, Fb; Hunter, Dj; Hottenga, Jj; Willemsen, G; Boomsma, Di; Byrne, Em; Martin, Ng; Montgomery, Gw; Warrington, Nm; Pennell, Ce; Stolk, L; Visser, Ja; Hofman, A; Uitterlinden, Ag; Rivadeneira, F; Lin, P; Fisher, Sl; Bierut, Lj; Crisponi, L; Porcu, E; Mangino, M; Zhai, G; Spector, Td; Buring, Je; Rose, Lm; Ridker, Pm; Poole, C; Hirschhorn, Jn; Murabito, Jm; Chasman, Di; Widen, E; North, Ke; Ong, Kk; Franceschini, N.
Common variants at ten loci modulate the QT interval duration in the QTSCD Study
2009-01-01 Pfeufer, A; Sanna, S; Arking, De; Müller, M; Gateva, V; Fuchsberger, C; Ehret, Gb; Orrú, M; Pattaro, C; Köttgen, A; Perz, S; Usala, G; Barbalic, M; Li, M; Pütz, B; Scuteri, A; Prineas, Rj; Sinner, Mf; Gieger, C; Najjar, Ss; Kao, Wh; Mühleisen, Tw; Dei, M; Happle, C; Möhlenkamp, S; Crisponi, Laura; Erbel, R; Jöckel, Kh; Naitza, S; Steinbeck, G; Marroni, F; Hicks, Aa; Lakatta, E; Müller Myhsok, B; Pramstaller, Pp; Wichmann, He; Schlessinger, D; Boerwinkle, E; Meitinger, T; Uda, M; Coresh, J; Kääb, S; Abecasis, Gr; Chakravarti, A.
Common variants in the GDF5-UQCC region are associated with variation in human height
2008-01-01 Sanna, S; Jackson, Au; Nagaraja, R; Willer, Cj; Chen, Wm; Bonnycastle, Ll; Shen, H; Timpson, N; Lettre, G; Usala, G; Chines, Ps; Stringham, Hm; Scott, Lj; Dei, M; Lai, S; Albai, G; Crisponi, Laura; Naitza, S; Doheny, Kf; Pugh, Ew; Ben Shlomo, Y; Ebrahim, S; Lawlor, Da; Bergman, Rn; Watanabe, Rm; Uda, M; Tuomilehto, J; Coresh, J; Hirschhorn, Jn; Shuldiner, Ar; Schlessinger, D; Collins, Fs; Davey Smith, G; Boerwinkle, E; Cao, A; Boehnke, M; Abecasis, Gr; Mohlke, Kl
Common variants in the SLCO1B3 locus are associated with bilirubin levels and unconjugated hyperbilirubinemia
2009-01-01 Sanna, S; Busonero, Fabio; Maschio, A; Mcardle, Pf; Usala, G; Dei, M; Lai, S; Mulas, A; Piras, Mg; Perseu, L; Masala, M; Marongiu, Mara; Crisponi, Laura; Naitza, S; Galanello, R; Abecasis, Gr; Shuldiner, Ar; Schlessinger, D; Cao, A; Uda, M.
Crisponi syndrome in an Indian patient: a rare differential diagnosis for neonatal tetanus
2008-01-01 Thomas, N; Danda, S; Kumar, M; Jana, Ak; Crisponi, G; Meloni, A; Crisponi, Laura
Crisponi syndrome is caused by mutations in the CRLF1 gene and is allelic to cold-induced sweating syndrome type 1
2007-01-01 Crisponi, Laura; Crisponi, G; Meloni, A; Toliat, Mr; Nurnberg, G; Usala, G; Uda, M; Masala, M; Hohne, W; Becker, C; Marongiu, Mara; Chiappe, F; Kleta, R; Rauch, A; Wollnik, B; Strasser, F; Reese, T; Jakobs, C; Kurlemann, G; Cao, A; Nurnberg, P; Rutsch, F.
Crisponi syndrome: a new case with additional features and new mutation in CRLF1
2008-01-01 Okur, I; Tumer, L; Crisponi, Laura; Eminoglu, Ft; Chiappe, F; Cinaz, P; Yenicesu, I; Hasanoglu, A.
Crisponi syndrome: a new mutation in CRLF1 gene associated with moderate outcome.
2013-01-01 Uzunalic, N; Zenciroglu, A; Beken, S; Piras, R; Dilli, D; Aydin, B; Chiappe, F; Okumus, N; Crisponi, Laura
Determination and stability of gonadal sex
2010-01-01 Schlessinger, D; Garcia Ortiz, Je; Forabosco, A; Uda, M; Crisponi, Laura; Pelosi, E.
Determination and stability of sex
2007-01-01 Ottolenghi, C; Uda, M; Crisponi, Laura; Omari, S; Cao, A; Forabosco, A; Schlessinger, D.
Differential secretion of the mutated protein is a major component affecting phenotypic severity in CRLF1-associated disorders
2011-01-01 Herholz, J; Meloni, A; Marongiu, Mara; Chiappe, F; Deiana, M; Herrero, Cr; Zampino, G; Hamamy, H; Zalloum, Y; Waaler, Pe; Crisponi, G; Crisponi, Laura; Rutsch, F.
Expanding the Mutational Spectrum of CRLF1 in Crisponi/CISS1 Syndrome
2014-01-01 Piras, R; Chiappe, F; Torraca, Il; Buers, I; Usala, G; Angius, A; Akin, Ma; Basel Vanagaite, L; Benedicenti, F; Chiodin, E; El Assy, O; Feingold Zadok, M; Guibert, J; Kamien, B; Kasapkara, Cs; Kılıç, E; Boduroğlu, K; Kurtoglu, S; Manzur, Ay; Onal, Ee; Paderi, E; Roche, Ch; Tümer, L; Unal, S; Utine, Ge; Zanda, G; Zankl, A; Zampino, G; Crisponi, G; Crisponi, Laura; Rutsch, F.
Foxl2 disruption causes mouse ovarian failure by pervasive blockage of follicle development
2004-01-01 Uda, M; Ottolenghi, C; Crisponi, Laura; Garcia, Je; Deiana, M; Kimber, W; Forabosco, A; Cao, A; Schlessinger, D; Pilia, G.
FOXL2 inactivation by a translocation 171 kb away: analysis of 500 kb of chromosome 3 for candidate long-range regulatory sequences
2004-01-01 Crisponi, Laura; Uda, M; Deiana, M; Loi, A; Nagaraja, R; Chiappe, F; Schlessinger, D; Cao, A; Pilia, G.
| Titolo | Data di pubblicazione | Autore(i) | Rivista | Editore |
|---|---|---|---|---|
| A genome-wide association scan on the levels of markers of inflammation in Sardinians reveals associations that underpin its complex regulation | 1-gen-2012 | Naitza, S; Porcu, E; Steri, M; Taub, Dd; Mulas, A; Xiao, X; Strait, J; Dei, M; Lai, S; Busonero, F; Maschio, A; Usala, G; Zoledziewska, M; Sidore, C; Zara, I; Pitzalis, M; Loi, A; Virdis, Francesca; Piras, R; Deidda, F; Whalen, MICHAEL BERNARD; Crisponi, Laura; Concas, A; Podda, C; Uzzau, S; Scheet, P; Longo, Dl; Lakatta, E; Abecasis, Gr; Cao, A; Schlessinger, D; Uda, M; Sanna, S; Cucca, F. | PLOS GENETICS | - |
| A genome-wide association search for type 2 diabetes genes in African Americans | 1-gen-2012 | Palmer, Nd; Mcdonough, Cw; Hicks, Pj; Roh, Bh; Wing, Mr; An, Ss; Hester, Jm; Cooke, Jn; Bostrom, Ma; Rudock, Me; Talbert, Me; Lewis, Jp; Diagram, Consortium; Magic, Investigators; Ferrara, A; Lu, L; Ziegler, Jt; Sale, Mm; Divers, J; Shriner, D; Adeyemo, A; Rotimi, Cn; Ng, Mc; Langefeld, Cd; Freedman, Bi; Bowden, Dw; Voight, Bf; Scott, Lj; Steinthorsdottir, V; Morris, Ap; Dina, C; Welch, Rp; Zeggini, E; Huth, C; Aulchenko, Ys; Thorleifsson, G; Mcculloch, Lj; Ferreira, T; Grallert, H; Amin, N; Wu, G; Willer, Cj; Raychaudhuri, S; Mccarroll, Sa; Langenberg, C; Hofmann, Om; Dupuis, J; Qi, L; Segrè, Av; van Hoek, M; Navarro, P; Ardlie, K; Balkau, B; Benediktsson, R; Bennett, Aj; Blagieva, R; Boerwinkle, E; Bonnycastle, Ll; Boström, Kb; Bravenboer, B; Bumpstead, S; Burtt, Np; Charpentier, G; Chines, Ps; Cornelis, M; Couper, Dj; Crawford, G; Doney, As; Elliott, Ks; Elliott, Al; Erdos, Mr; Fox, Cs; Franklin, Cs; Ganser, M; Gieger, C; Grarup, N; Green, T; Griffin, S; Groves, Cj; Guiducci, C; Hadjadj, S; Hassanali, N; Herder, C; Isomaa, B; Jackson, Au; Johnson, Pr; Jørgensen, T; Kao, Wh; Klopp, N; Kong, A; Kraft, P; Kuusisto, J; Lauritzen, T; Li, M; Lieverse, A; Lindgren, Cm; Lyssenko, V; Marre, M; Meitinger, T; Midthjell, K; Morken, Ma; Narisu, N; Nilsson, P; Owen, Kr; Payne, F; Perry, Jr; Petersen, Ak; Platou, C; Proença, C; Prokopenko, I; Rathmann, W; Rayner, Nw; Robertson, Nr; Rocheleau, G; Roden, M; Sampson, Mj; Saxena, R; Shields, Bm; Shrader, P; Sigurdsson, G; Sparsø, T; Strassburger, K; Stringham, Hm; Sun, Q; Swift, Aj; Thorand, B; Tichet, J; Tuomi, T; van Dam, Rm; van Haeften, Tw; van Herpt, T; van Vliet Ostaptchouk, Jv; Walters, Gb; Weedon, Mn; Wijmenga, C; Witteman, J; Bergman, Rn; Cauchi, S; Collins, Fs; Gloyn, Al; Gyllensten, U; Hansen, T; Hide, Wa; Hitman, Ga; Hofman, A; Hunter, Dj; Hveem, K; Laakso, M; Mohlke, Kl; Morris, Ad; Palmer, Cn; Pramstaller, Pp; Rudan, I; Sijbrands, E; Stein, Ld; Tuomilehto, J; Uitterlinden, A; Walker, M; Wareham, Nj; Watanabe, Rm; Abecasis, Gr; Boehm, Bo; Campbell, H; Daly, Mj; Hattersley, At; Hu, Fb; Meigs, Jb; Pankow, Js; Pedersen, O; Wichmann, He; Barroso, I; Florez, Jc; Frayling, Tm; Groop, L; Sladek, R; Thorsteinsdottir, U; Wilson, Jf; Illig, T; Froguel, P; van Duijn, Cm; Stefansson, K; Altshuler, D; Boehnke, M; Mccarthy, Mi; Soranzo, N; Wheeler, E; Glazer, Nl; Bouatia Naji, N; Mägi, R; Randall, J; Johnson, T; Elliott, P; Rybin, D; Henneman, P; Dehghan, A; Hottenga, Jj; Song, K; Goel, A; Egan, Jm; Lajunen, T; Doney, A; Kanoni, S; Cavalcanti Proença, C; Kumari, M; Timpson, Nj; Zabena, C; Ingelsson, E; An, P; O'Connell, J; Luan, J; Elliott, A; Mccarroll, Sa; Roccasecca, Rm; Pattou, F; Sethupathy, P; Ariyurek, Y; Barter, P; Beilby, Jp; Ben Shlomo, Y; Bergmann, S; Bochud, M; Bonnefond, A; Borch Johnsen, K; Böttcher, Y; Brunner, E; Bumpstead, Sj; Chen, Yd; Chines, P; Clarke, R; Coin, Lj; Cooper, Mn; Crisponi, Laura; Day, In; de Geus, Ej; Delplanque, J; Fedson, Ac; Fischer Rosinsky, A; Forouhi, Ng; Frants, R; Franzosi, Mg; Galan, P; Goodarzi, Mo; Graessler, J; Grundy, S; Gwilliam, R; Hallmans, G; Hammond, N; Han, X; Hartikainen, Al; Hayward, C; Heath, Sc; Hercberg, S; Hicks, Aa; Hillman, Dr; Hingorani, Ad; Hui, J; Hung, J; Jula, A; Kaakinen, M; Kaprio, J; Kesaniemi, Ya; Kivimaki, M; Knight, B; Koskinen, S; Kovacs, P; Kyvik, Ko; Lathrop, Gm; Lawlor, Da; Le Bacquer, O; Lecoeur, C; Li, Y; Mahley, R; Mangino, M; Manning, Ak; Martínez Larrad, Mt; Mcateer, Jb; Mcpherson, R; Meisinger, C; Melzer, D; Meyre, D; Mitchell, Bd; Mukherjee, S; Naitza, S; Neville, Mj; Oostra, Ba; Orrù, M; Pakyz, R; Paolisso, G; Pattaro, C; Pearson, D; Peden, Jf; Pedersen, Nl; Perola, M; Pfeiffer, Af; Pichler, I; Polasek, O; Posthuma, D; Potter, Sc; Pouta, A; Province, Ma; Psaty, Bm; Rayner, Nw; Rice, K; Ripatti, S; Rivadeneira, F; Rolandsson, O; Sandbaek, A; Sandhu, M; Sanna, S; Sayer, Aa; Scheet, P; Seedorf, U; Sharp, Sj; Shields, B; Sijbrands, Ej; Silveira, A; Simpson, L; Singleton, A; Smith, Nl; Sovio, U; Swift, A; Syddall, H; Syvänen, Ac; Tanaka, T; Tönjes, A; Uitterlinden, Ag; van Dijk, Kw; Varma, D; Visvikis Siest, S; Vitart, V; Vogelzangs, N; Waeber, G; Wagner, Pj; Walley, A; Ward, Kl; Watkins, H; Wild, Sh; Willemsen, G; Witteman, Jc; Yarnell, Jw; Zelenika, D; Zethelius, B; Zhai, G; Zhao, Jh; Zillikens, Mc; Borecki, Ib; Loos, Rj; Meneton, P; Magnusson, Pk; Nathan, Dm; Williams, Gh; Silander, K; Salomaa, V; Smith, Gd; Bornstein, Sr; Schwarz, P; Spranger, J; Karpe, F; Shuldiner, Ar; Cooper, C; Dedoussis, Gv; Serrano Ríos, M; Lind, L; Palmer, Lj; Franks, Pw; Ebrahim, S; Marmot, M; Kao, Wh; Pramstaller, Pp; Wright, Af; Stumvoll, M; Hamsten, A; Buchanan, Ta; Valle, Tt; Rotter, Ji; Siscovick, Ds; Penninx, Bw; Boomsma, Di; Deloukas, P; Spector, Td; Ferrucci, L; Cao, A; Scuteri, A; Schlessinger, D; Uda, M; Ruokonen, A; Jarvelin, Mr; Waterworth, Dm; Vollenweider, P; Peltonen, L; Mooser, V; Sladek, R. | PLOS ONE | - |
| A Novel Null Homozygous Mutation Confirms CACNA2D2 as a Gene Mutated in Epileptic Encephalopathy | 1-gen-2013 | Pippucci, T.; Parmeggiani, A.; Palombo, F.; Maresca, A.; Angius, A.; Crisponi, Laura; Cucca, F.; Liguori, R.; Valentino, M. L.; Seri, M.; Carelli, V. | PLOS ONE | - |
| A role of BRCA1 and BRCA2 germline mutations in breast cancer susceptibility within Sardinian population | 1-gen-2009 | Palomba, G; Loi, A; Uras, A; Fancello, P; Piras, G; Gabbas, A; Cossu, A; Budroni, M; Contu, A; Tanda, F; Farris, A; Orrù, S; Floris, C; Pisano, M; Lovicu, M; Santona, Mc; Landriscina, G; Crisponi, Laura; Palmieri, G; Monne, M. | BMC CANCER | - |
| Aging of oocyte, ovary, and human reproduction | 1-gen-2004 | Ottolenghi, C; Uda, M; Hamatani, T; Crisponi, Laura; Garcia, Je; Ko, M; Pilia, G; Sforza, C; Schlessinger, D; Forabosco, A. | ANNALS OF THE NEW YORK ACADEMY OF SCIENCES | - |
| Analysis of exon/intron structure and 400 kb of genomic sequence surrounding the 5'-promoter and 3'-terminal ends of the human glypican 3 (GPC3) gene | 1-gen-1997 | Huber, R; Crisponi, Laura; Mazzarella, R; Chen, Cn; Su, Y; Shizuya, H; Chen, Ey; Cao, A; Pilia, G. | GENOMICS | - |
| Association of adiposity genetic variants with menarche timing in 92,105 women of European descent | 1-gen-2013 | Fernández Rhodes, L; Crisponi, Laura; Cousminer, Dl; Tao, R; Dreyfus, Jg; Esko, T; Smith, Av; Gudnason, V; Harris, Tb; Launer, L; Mcardle, Pf; Yerges Armstrong, Lm; Elks, Ce; Strachan, Dp; Kutalik, Z; Vollenweider, P; Feenstra, B; Boyd, Ha; Metspalu, A; Mihailov, E; Broer, L; Zillikens, Mc; Oostra, B; van Duijn, Cm; Lunetta, Kl; Perry, Jr; Murray, A; Koller, Dl; Lai, D; Corre, T; Toniolo, D; Albrecht, E; Stöckl, D; Grallert, H; Gieger, C; Hayward, C; Polasek, O; Rudan, I; Wilson, Jf; He, C; Kraft, P; Hu, Fb; Hunter, Dj; Hottenga, Jj; Willemsen, G; Boomsma, Di; Byrne, Em; Martin, Ng; Montgomery, Gw; Warrington, Nm; Pennell, Ce; Stolk, L; Visser, Ja; Hofman, A; Uitterlinden, Ag; Rivadeneira, F; Lin, P; Fisher, Sl; Bierut, Lj; Crisponi, L; Porcu, E; Mangino, M; Zhai, G; Spector, Td; Buring, Je; Rose, Lm; Ridker, Pm; Poole, C; Hirschhorn, Jn; Murabito, Jm; Chasman, Di; Widen, E; North, Ke; Ong, Kk; Franceschini, N. | AMERICAN JOURNAL OF EPIDEMIOLOGY | - |
| Common variants at ten loci modulate the QT interval duration in the QTSCD Study | 1-gen-2009 | Pfeufer, A; Sanna, S; Arking, De; Müller, M; Gateva, V; Fuchsberger, C; Ehret, Gb; Orrú, M; Pattaro, C; Köttgen, A; Perz, S; Usala, G; Barbalic, M; Li, M; Pütz, B; Scuteri, A; Prineas, Rj; Sinner, Mf; Gieger, C; Najjar, Ss; Kao, Wh; Mühleisen, Tw; Dei, M; Happle, C; Möhlenkamp, S; Crisponi, Laura; Erbel, R; Jöckel, Kh; Naitza, S; Steinbeck, G; Marroni, F; Hicks, Aa; Lakatta, E; Müller Myhsok, B; Pramstaller, Pp; Wichmann, He; Schlessinger, D; Boerwinkle, E; Meitinger, T; Uda, M; Coresh, J; Kääb, S; Abecasis, Gr; Chakravarti, A. | NATURE GENETICS | - |
| Common variants in the GDF5-UQCC region are associated with variation in human height | 1-gen-2008 | Sanna, S; Jackson, Au; Nagaraja, R; Willer, Cj; Chen, Wm; Bonnycastle, Ll; Shen, H; Timpson, N; Lettre, G; Usala, G; Chines, Ps; Stringham, Hm; Scott, Lj; Dei, M; Lai, S; Albai, G; Crisponi, Laura; Naitza, S; Doheny, Kf; Pugh, Ew; Ben Shlomo, Y; Ebrahim, S; Lawlor, Da; Bergman, Rn; Watanabe, Rm; Uda, M; Tuomilehto, J; Coresh, J; Hirschhorn, Jn; Shuldiner, Ar; Schlessinger, D; Collins, Fs; Davey Smith, G; Boerwinkle, E; Cao, A; Boehnke, M; Abecasis, Gr; Mohlke, Kl | NATURE GENETICS | - |
| Common variants in the SLCO1B3 locus are associated with bilirubin levels and unconjugated hyperbilirubinemia | 1-gen-2009 | Sanna, S; Busonero, Fabio; Maschio, A; Mcardle, Pf; Usala, G; Dei, M; Lai, S; Mulas, A; Piras, Mg; Perseu, L; Masala, M; Marongiu, Mara; Crisponi, Laura; Naitza, S; Galanello, R; Abecasis, Gr; Shuldiner, Ar; Schlessinger, D; Cao, A; Uda, M. | HUMAN MOLECULAR GENETICS | - |
| Crisponi syndrome in an Indian patient: a rare differential diagnosis for neonatal tetanus | 1-gen-2008 | Thomas, N; Danda, S; Kumar, M; Jana, Ak; Crisponi, G; Meloni, A; Crisponi, Laura | AMERICAN JOURNAL OF MEDICAL GENETICS. PART A | - |
| Crisponi syndrome is caused by mutations in the CRLF1 gene and is allelic to cold-induced sweating syndrome type 1 | 1-gen-2007 | Crisponi, Laura; Crisponi, G; Meloni, A; Toliat, Mr; Nurnberg, G; Usala, G; Uda, M; Masala, M; Hohne, W; Becker, C; Marongiu, Mara; Chiappe, F; Kleta, R; Rauch, A; Wollnik, B; Strasser, F; Reese, T; Jakobs, C; Kurlemann, G; Cao, A; Nurnberg, P; Rutsch, F. | AMERICAN JOURNAL OF HUMAN GENETICS | - |
| Crisponi syndrome: a new case with additional features and new mutation in CRLF1 | 1-gen-2008 | Okur, I; Tumer, L; Crisponi, Laura; Eminoglu, Ft; Chiappe, F; Cinaz, P; Yenicesu, I; Hasanoglu, A. | AMERICAN JOURNAL OF MEDICAL GENETICS. PART A | - |
| Crisponi syndrome: a new mutation in CRLF1 gene associated with moderate outcome. | 1-gen-2013 | Uzunalic, N; Zenciroglu, A; Beken, S; Piras, R; Dilli, D; Aydin, B; Chiappe, F; Okumus, N; Crisponi, Laura | GENETIC COUNSELING | - |
| Determination and stability of gonadal sex | 1-gen-2010 | Schlessinger, D; Garcia Ortiz, Je; Forabosco, A; Uda, M; Crisponi, Laura; Pelosi, E. | JOURNAL OF ANDROLOGY | - |
| Determination and stability of sex | 1-gen-2007 | Ottolenghi, C; Uda, M; Crisponi, Laura; Omari, S; Cao, A; Forabosco, A; Schlessinger, D. | BIOESSAYS | - |
| Differential secretion of the mutated protein is a major component affecting phenotypic severity in CRLF1-associated disorders | 1-gen-2011 | Herholz, J; Meloni, A; Marongiu, Mara; Chiappe, F; Deiana, M; Herrero, Cr; Zampino, G; Hamamy, H; Zalloum, Y; Waaler, Pe; Crisponi, G; Crisponi, Laura; Rutsch, F. | EUROPEAN JOURNAL OF HUMAN GENETICS | - |
| Expanding the Mutational Spectrum of CRLF1 in Crisponi/CISS1 Syndrome | 1-gen-2014 | Piras, R; Chiappe, F; Torraca, Il; Buers, I; Usala, G; Angius, A; Akin, Ma; Basel Vanagaite, L; Benedicenti, F; Chiodin, E; El Assy, O; Feingold Zadok, M; Guibert, J; Kamien, B; Kasapkara, Cs; Kılıç, E; Boduroğlu, K; Kurtoglu, S; Manzur, Ay; Onal, Ee; Paderi, E; Roche, Ch; Tümer, L; Unal, S; Utine, Ge; Zanda, G; Zankl, A; Zampino, G; Crisponi, G; Crisponi, Laura; Rutsch, F. | HUMAN MUTATION | - |
| Foxl2 disruption causes mouse ovarian failure by pervasive blockage of follicle development | 1-gen-2004 | Uda, M; Ottolenghi, C; Crisponi, Laura; Garcia, Je; Deiana, M; Kimber, W; Forabosco, A; Cao, A; Schlessinger, D; Pilia, G. | HUMAN MOLECULAR GENETICS | - |
| FOXL2 inactivation by a translocation 171 kb away: analysis of 500 kb of chromosome 3 for candidate long-range regulatory sequences | 1-gen-2004 | Crisponi, Laura; Uda, M; Deiana, M; Loi, A; Nagaraja, R; Chiappe, F; Schlessinger, D; Cao, A; Pilia, G. | GENOMICS | - |