Sfoglia per Autore
Successful treatment of cold-induced sweating in Crisponi syndrome and its possible mechanism of action
2010-01-01 Herholz, J; Crisponi, Laura; Mallick, Bn; Rutsch, F.
Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies
2010-01-01 Elks, Ce; Perry, Jrb; Sulem, P; Chasman, Di; Franceschini, N; He, Cy; Lunetta, Kl; Visser, Ja; Byrne, Em; Cousminer, Dl; Gudbjartsson, Df; Esko, T; Feenstra, B; Hottenga, Jj; Koller, Dl; Kutalik, Z; Lin, P; Mangino, M; Marongiu, Mara; Mcardle, Pf; Smith, Av; Stolk, L; Van Wingerden, Sh; Zhao, Jh; Albrecht, E; Corre, T; Ingelsson, E; Hayward, C; Magnusson, Pke; Smith, En; Ulivi, S; Warrington, Nm; Zgaga, L; Alavere, H; Amin, N; Aspelund, T; Bandinelli, S; Barroso, I; Berenson, Gs; Bergmann, S; Blackburn, H; Boerwinkle, E; Buring, Je; Busonero, Fabio; Campbell, H; Chanock, Sj; Chen, W; Cornelis, Mc; Couper, D; Coviello, Ad; D'Adamo, P; de Faire, U; de Geus, Ejc; Deloukas, P; Doring, A; Smith, Gd; Easton, Df; Eiriksdottir, G; Emilsson, V; Eriksson, J; Ferrucci, L; Folsom, Ar; Foroud, T; Garcia, M; Gasparini, P; Geller, F; Gieger, C; Gudnason, V; Hall, P; Hankinson, Se; Ferreli, L; Heath, Ac; Hernandez, Dg; Hofman, A; Hu, Fb; Illig, T; Jarvelin, Mr; Johnson, Ad; Karasik, D; Khaw, Kt; Kiel, Dp; Kilpelainen, To; Kolcic, I; Kraft, P; Launer, Lj; Laven, Jse; Li, Sx; Liu, Jj; Levy, D; Martin, Ng; Mcardle, Wl; Melbye, M; Mooser, V; Murray, Jc; Murray, Ss; Nalls, Ma; Navarro, P; Nelis, M; Ness, Ar; Northstone, K; Oostra, Ba; Peacock, M; Palmer, Lj; Palotie, A; Pare, G; Parker, An; Pedersen, Nl; Peltonen, L; Pennell, Ce; Pharoah, P; Polasek, O; Plump, As; Pouta, A; Porcu, E; Rafnar, T; Rice, Jp; Ring, Sm; Rivadeneira, F; Rudan, I; Sala, C; Salomaa, V; Sanna, S; Schlessinger, D; Schork, Nj; Scuteri, A; Segre, Av; Shuldiner, Ar; Soranzo, N; Sovio, U; Srinivasan, Sr; Strachan, Dp; Tammesoo, Ml; Tikkanen, E; Toniolo, D; Tsui, K; Tryggvadottir, L; Tyrer, J; Uda, M; van Dam, Rm; van Meurs, Jbj; Vollenweider, P; Waeber, G; Wareham, Nj; Waterworth, Dm; Weedon, Mn; Wichmann, He; Willemsen, G; Wilson, Jf; Wright, Af; Young, L; Zhai, Gj; Zhuang, Wv; Bierut, Lj; Boomsma, Di; Boyd, Ha; Crisponi, Laura; Demerath, Ew; van Duijn, Cm; Econs, Mj; Harris, Tb; Hunter, Dj; Loos, Rjf; Metspalu, A; Montgomery, Gw; Ridker, Pm; Spector, Td; Streeten, Ea; Stefansson, K; Thorsteinsdottir, U; Uitterlinden, Ag; Widen, E; Murabito, Jm; Ong, Kk; Murray, A.
Determination and stability of gonadal sex
2010-01-01 Schlessinger, D; Garcia Ortiz, Je; Forabosco, A; Uda, M; Crisponi, Laura; Pelosi, E.
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.
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.
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.
Variants in MTNR1B influence fasting glucose levels
2009-01-01 Prokopenko, I; Langenberg, C; Florez, Jc; Saxena, R; Soranzo, N; Thorleifsson, G; Loos, Rj; Manning, Ak; Jackson, Au; Aulchenko, Y; Potter, Sc; Erdos, Mr; Sanna, S; Hottenga, Jj; Wheeler, E; Kaakinen, M; Lyssenko, V; Chen, Wm; Ahmadi, K; Beckmann, Js; Bergman, Rn; Bochud, M; Bonnycastle, Ll; Buchanan, Ta; Cao, A; Cervino, A; Coin, L; Collins, Fs; Crisponi, Laura; de Geus, Ej; Dehghan, A; Deloukas, P; Doney, As; Elliott, P; Freimer, N; Gateva, V; Herder, C; Hofman, A; Hughes, Te; Hunt, S; Illig, T; Inouye, M; Isomaa, B; Johnson, T; Kong, A; Krestyaninova, M; Kuusisto, J; Laakso, M; Lim, N; Lindblad, U; Lindgren, Cm; Mccann, Ot; Mohlke, Kl; Morris, Ad; Naitza, S; Orrù, M; Palmer, Cn; Pouta, A; Randall, J; Rathmann, W; Saramies, J; Scheet, P; Scott, Lj; Scuteri, A; Sharp, S; Sijbrands, E; Smit, Jh; Song, K; Steinthorsdottir, V; Stringham, Hm; Tuomi, T; Tuomilehto, J; Uitterlinden, Ag; Voight, Bf; Waterworth, D; Wichmann, He; Willemsen, G; Witteman, Jc; Yuan, X; Zhao, Jh; Zeggini, E; Schlessinger, D; Sandhu, M; Boomsma, Di; Uda, M; Spector, Td; Penninx, Bw; Altshuler, D; Vollenweider, P; Jarvelin, Mr; Lakatta, E; Waeber, G; Fox, Cs; Peltonen, L; Groop, Lc; Mooser, V; Cupples, La; Thorsteinsdottir, U; Boehnke, M; Barroso, I; Van Duijn, C; Dupuis, J; Watanabe, Rm; Stefansson, K; Mccarthy, Mi; Wareham, Nj; Meigs, Jb; Abecasis, Gr
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.
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
Genome-wide association study shows BCL11A associated with persistent fetal hemoglobin and amelioration of the phenotype of beta-thalassemia
2008-01-01 Uda, M; Galanello, R; Sanna, S; Lettre, G; Sankaran, Vg; Chen, W; Usala, G; Busonero, Fabio; Maschio, A; Albai, G; Piras, Mg; Sestu, N; Lai, S; Dei, M; Mulas, A; Crisponi, Laura; Naitza, S; Asunis, I; Deiana, M; Nagaraja, R; Perseu, L; Satta, Stefania; Cipollina, Md; Sollaino, C; Moi, Paolo; Hirschhorn, Jn; Orkin, Sh; Abecasis, Gr; Schlessinger, D; Cao, A.
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
Two patients with balanced translocations and autistic disorder: CSMD3 as a candidate gene for autism found in their common 8q23 breakpoint area
2008-01-01 Floris, C; Rassu, S; Boccone, L; Gasperini, D; Cao, A; Crisponi, Laura
Phosphodiesterase 8B gene variants are associated with serum TSH levels and thyroid function
2008-01-01 Arnaud Lopez, L; Usala, G; Ceresini, G; Mitchell, Bd; Pilia, Mg; Piras, Mg; Sestu, N; Maschio, A; Busonero, Fabio; Albai, G; Dei, M; Lai, S; Mulas, A; Crisponi, Laura; Tanaka, T; Bandinelli, S; Guralnik, Jm; Loi, A; Balaci, L; Sole, G; Prinzis, A; Mariotti, Stefano; Shuldiner, Ar; Cao, A; Schlessinger, D; Uda, M; Abecasis, Gr; Nagaraja, R; Sanna, S; Naitza, S.
Transcriptional control of ovarian development in somatic cells
2007-01-01 Ottolenghi, C; Colombino, M; Crisponi, Laura; Cao, A; Forabosco, A; Schlessinger, D; Uda, M.
Determination and stability of sex
2007-01-01 Ottolenghi, C; Uda, M; Crisponi, Laura; Omari, S; Cao, A; Forabosco, A; Schlessinger, D.
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.
IRAK-M is involved in the pathogenesis of early-onset persistent asthma
2007-01-01 Balaci, Lenuta; Spada, Mc; Olla, N; Sole, G; Loddo, L; Anedda, Francesca; Naitza, S; Zuncheddu, Ma; Maschio, A; Altea, D; Uda, M; Pilia, S; Sanna, S; Masala, M; Crisponi, Laura; Fattori, M; Devoto, M; Doratiotto, Silvia; Rassu, S; Mereu, S; Giua, E; Cadeddu, Ng; Atzeni, R; Pelosi, U; Corrias, A; Perra, R; Torrazza, Pl; Pirina, P; Ginesu, F; Marcias, S; Schintu, Mg; Del Giacco, Gs; Manconi, PAOLO EMILIO; Malerba, G; Bisognin, A; Trabetti, E; Boner, A; Pescollderungg, L; Pignatti, Pf; Schlessinger, D; Cao, A; Pilia, G.
Foxl2 is required for commitment to ovary differentiation
2005-01-01 Ottolenghi, C; Omari, S; Garcia Ortiz, Je; Uda, M; Crisponi, Laura; Forabosco, A; Pilia, G; Schlessinger, D.
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.
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.
| Titolo | Data di pubblicazione | Autore(i) | Rivista | Editore |
|---|---|---|---|---|
| Successful treatment of cold-induced sweating in Crisponi syndrome and its possible mechanism of action | 1-gen-2010 | Herholz, J; Crisponi, Laura; Mallick, Bn; Rutsch, F. | DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY | - |
| Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies | 1-gen-2010 | Elks, Ce; Perry, Jrb; Sulem, P; Chasman, Di; Franceschini, N; He, Cy; Lunetta, Kl; Visser, Ja; Byrne, Em; Cousminer, Dl; Gudbjartsson, Df; Esko, T; Feenstra, B; Hottenga, Jj; Koller, Dl; Kutalik, Z; Lin, P; Mangino, M; Marongiu, Mara; Mcardle, Pf; Smith, Av; Stolk, L; Van Wingerden, Sh; Zhao, Jh; Albrecht, E; Corre, T; Ingelsson, E; Hayward, C; Magnusson, Pke; Smith, En; Ulivi, S; Warrington, Nm; Zgaga, L; Alavere, H; Amin, N; Aspelund, T; Bandinelli, S; Barroso, I; Berenson, Gs; Bergmann, S; Blackburn, H; Boerwinkle, E; Buring, Je; Busonero, Fabio; Campbell, H; Chanock, Sj; Chen, W; Cornelis, Mc; Couper, D; Coviello, Ad; D'Adamo, P; de Faire, U; de Geus, Ejc; Deloukas, P; Doring, A; Smith, Gd; Easton, Df; Eiriksdottir, G; Emilsson, V; Eriksson, J; Ferrucci, L; Folsom, Ar; Foroud, T; Garcia, M; Gasparini, P; Geller, F; Gieger, C; Gudnason, V; Hall, P; Hankinson, Se; Ferreli, L; Heath, Ac; Hernandez, Dg; Hofman, A; Hu, Fb; Illig, T; Jarvelin, Mr; Johnson, Ad; Karasik, D; Khaw, Kt; Kiel, Dp; Kilpelainen, To; Kolcic, I; Kraft, P; Launer, Lj; Laven, Jse; Li, Sx; Liu, Jj; Levy, D; Martin, Ng; Mcardle, Wl; Melbye, M; Mooser, V; Murray, Jc; Murray, Ss; Nalls, Ma; Navarro, P; Nelis, M; Ness, Ar; Northstone, K; Oostra, Ba; Peacock, M; Palmer, Lj; Palotie, A; Pare, G; Parker, An; Pedersen, Nl; Peltonen, L; Pennell, Ce; Pharoah, P; Polasek, O; Plump, As; Pouta, A; Porcu, E; Rafnar, T; Rice, Jp; Ring, Sm; Rivadeneira, F; Rudan, I; Sala, C; Salomaa, V; Sanna, S; Schlessinger, D; Schork, Nj; Scuteri, A; Segre, Av; Shuldiner, Ar; Soranzo, N; Sovio, U; Srinivasan, Sr; Strachan, Dp; Tammesoo, Ml; Tikkanen, E; Toniolo, D; Tsui, K; Tryggvadottir, L; Tyrer, J; Uda, M; van Dam, Rm; van Meurs, Jbj; Vollenweider, P; Waeber, G; Wareham, Nj; Waterworth, Dm; Weedon, Mn; Wichmann, He; Willemsen, G; Wilson, Jf; Wright, Af; Young, L; Zhai, Gj; Zhuang, Wv; Bierut, Lj; Boomsma, Di; Boyd, Ha; Crisponi, Laura; Demerath, Ew; van Duijn, Cm; Econs, Mj; Harris, Tb; Hunter, Dj; Loos, Rjf; Metspalu, A; Montgomery, Gw; Ridker, Pm; Spector, Td; Streeten, Ea; Stefansson, K; Thorsteinsdottir, U; Uitterlinden, Ag; Widen, E; Murabito, Jm; Ong, Kk; Murray, A. | NATURE GENETICS | - |
| 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 | - |
| 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 | - |
| 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 | - |
| 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 | - |
| Variants in MTNR1B influence fasting glucose levels | 1-gen-2009 | Prokopenko, I; Langenberg, C; Florez, Jc; Saxena, R; Soranzo, N; Thorleifsson, G; Loos, Rj; Manning, Ak; Jackson, Au; Aulchenko, Y; Potter, Sc; Erdos, Mr; Sanna, S; Hottenga, Jj; Wheeler, E; Kaakinen, M; Lyssenko, V; Chen, Wm; Ahmadi, K; Beckmann, Js; Bergman, Rn; Bochud, M; Bonnycastle, Ll; Buchanan, Ta; Cao, A; Cervino, A; Coin, L; Collins, Fs; Crisponi, Laura; de Geus, Ej; Dehghan, A; Deloukas, P; Doney, As; Elliott, P; Freimer, N; Gateva, V; Herder, C; Hofman, A; Hughes, Te; Hunt, S; Illig, T; Inouye, M; Isomaa, B; Johnson, T; Kong, A; Krestyaninova, M; Kuusisto, J; Laakso, M; Lim, N; Lindblad, U; Lindgren, Cm; Mccann, Ot; Mohlke, Kl; Morris, Ad; Naitza, S; Orrù, M; Palmer, Cn; Pouta, A; Randall, J; Rathmann, W; Saramies, J; Scheet, P; Scott, Lj; Scuteri, A; Sharp, S; Sijbrands, E; Smit, Jh; Song, K; Steinthorsdottir, V; Stringham, Hm; Tuomi, T; Tuomilehto, J; Uitterlinden, Ag; Voight, Bf; Waterworth, D; Wichmann, He; Willemsen, G; Witteman, Jc; Yuan, X; Zhao, Jh; Zeggini, E; Schlessinger, D; Sandhu, M; Boomsma, Di; Uda, M; Spector, Td; Penninx, Bw; Altshuler, D; Vollenweider, P; Jarvelin, Mr; Lakatta, E; Waeber, G; Fox, Cs; Peltonen, L; Groop, Lc; Mooser, V; Cupples, La; Thorsteinsdottir, U; Boehnke, M; Barroso, I; Van Duijn, C; Dupuis, J; Watanabe, Rm; Stefansson, K; Mccarthy, Mi; Wareham, Nj; Meigs, Jb; Abecasis, Gr | NATURE 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 | - |
| 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 | - |
| Genome-wide association study shows BCL11A associated with persistent fetal hemoglobin and amelioration of the phenotype of beta-thalassemia | 1-gen-2008 | Uda, M; Galanello, R; Sanna, S; Lettre, G; Sankaran, Vg; Chen, W; Usala, G; Busonero, Fabio; Maschio, A; Albai, G; Piras, Mg; Sestu, N; Lai, S; Dei, M; Mulas, A; Crisponi, Laura; Naitza, S; Asunis, I; Deiana, M; Nagaraja, R; Perseu, L; Satta, Stefania; Cipollina, Md; Sollaino, C; Moi, Paolo; Hirschhorn, Jn; Orkin, Sh; Abecasis, Gr; Schlessinger, D; Cao, A. | PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA | - |
| 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 | - |
| Two patients with balanced translocations and autistic disorder: CSMD3 as a candidate gene for autism found in their common 8q23 breakpoint area | 1-gen-2008 | Floris, C; Rassu, S; Boccone, L; Gasperini, D; Cao, A; Crisponi, Laura | EUROPEAN JOURNAL OF HUMAN GENETICS | - |
| Phosphodiesterase 8B gene variants are associated with serum TSH levels and thyroid function | 1-gen-2008 | Arnaud Lopez, L; Usala, G; Ceresini, G; Mitchell, Bd; Pilia, Mg; Piras, Mg; Sestu, N; Maschio, A; Busonero, Fabio; Albai, G; Dei, M; Lai, S; Mulas, A; Crisponi, Laura; Tanaka, T; Bandinelli, S; Guralnik, Jm; Loi, A; Balaci, L; Sole, G; Prinzis, A; Mariotti, Stefano; Shuldiner, Ar; Cao, A; Schlessinger, D; Uda, M; Abecasis, Gr; Nagaraja, R; Sanna, S; Naitza, S. | AMERICAN JOURNAL OF HUMAN GENETICS | - |
| Transcriptional control of ovarian development in somatic cells | 1-gen-2007 | Ottolenghi, C; Colombino, M; Crisponi, Laura; Cao, A; Forabosco, A; Schlessinger, D; Uda, M. | SEMINARS IN REPRODUCTIVE MEDICINE | - |
| Determination and stability of sex | 1-gen-2007 | Ottolenghi, C; Uda, M; Crisponi, Laura; Omari, S; Cao, A; Forabosco, A; Schlessinger, D. | BIOESSAYS | - |
| 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 | - |
| IRAK-M is involved in the pathogenesis of early-onset persistent asthma | 1-gen-2007 | Balaci, Lenuta; Spada, Mc; Olla, N; Sole, G; Loddo, L; Anedda, Francesca; Naitza, S; Zuncheddu, Ma; Maschio, A; Altea, D; Uda, M; Pilia, S; Sanna, S; Masala, M; Crisponi, Laura; Fattori, M; Devoto, M; Doratiotto, Silvia; Rassu, S; Mereu, S; Giua, E; Cadeddu, Ng; Atzeni, R; Pelosi, U; Corrias, A; Perra, R; Torrazza, Pl; Pirina, P; Ginesu, F; Marcias, S; Schintu, Mg; Del Giacco, Gs; Manconi, PAOLO EMILIO; Malerba, G; Bisognin, A; Trabetti, E; Boner, A; Pescollderungg, L; Pignatti, Pf; Schlessinger, D; Cao, A; Pilia, G. | AMERICAN JOURNAL OF HUMAN GENETICS | - |
| Foxl2 is required for commitment to ovary differentiation | 1-gen-2005 | Ottolenghi, C; Omari, S; Garcia Ortiz, Je; Uda, M; Crisponi, Laura; Forabosco, A; Pilia, G; Schlessinger, D. | 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 | - |
| 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 | - |
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