Sfoglia per Rivista NATURE GENETICS
Osteoclast-poor human osteopetrosis due to mutations in RANKL
2007-01-01 Sobacchi, C; Frattini, A; Guerrini, M. M.; Abinun, M; Pangrazio, A; Susani, L; Bredius, R; Mancini, G; Cant, A; Bishop, N; Grabowski, P; DEL FATTORE, A; Messina, C; Errigo, G; Coxon, F. P.; Scott, D. I.; Teti, ANNA MARIA; Rogers, M. J.; Vezzoni, P; Villa, A; Helfrich, M. H.
Rare missense variants in POT1 predispose to familial cutaneous malignant melanoma
2014-01-01 Shi, J; Yang, Xr; Ballew, B; Rotunno, M; Calista, D; Fargnoli, MARIA CONCETTA; Ghiorzo, P; Bressac de Paillerets, B; Nagore, E; Avril, Mf; Caporaso, Ne; Mcmaster, Ml; Cullen, M; Wang, Z; Zhang, X; NCI DCEG Cancer Sequencing Working, Group; NCI DCEG Cancer Genomics Research, Laboratory; French Familial Melanoma Study, Group; Bruno, W; Pastorino, L; Queirolo, P; Banuls Roca, J; Garcia Casado, Z; Vaysse, A; Mohamdi, H; Riazalhosseini, Y; Foglio, M; Jouenne, F; Hua, X; Hyland, Pl; Yin, J; Vallabhaneni, H; Chai, W; Minghetti, P; Pellegrini, C; Ravichandran, S; Eggermont, A; Lathrop, M; Peris, K; Scarra, Gb; Landi, G; Savage, Sa; Sampson, Jn; He, J; Yeager, M; Goldin, Lr; Demenais, F; Chanock, Sj; Tucker, Ma; Goldstein, Am; Liu, Y; Landi, M. T.
Small cell carcinoma of the ovary, hypercalcemic type, displays frequent inactivating germline and somatic mutations in SMARCA4
2014-01-01 Ramos, P.; Karnezis, A. N.; Craig, D. W.; Sekulic, A.; Russell, M. L.; Hendricks, W. P. D.; Corneveaux, J. J.; Barrett, M. T.; Shumansky, K.; Yang, Y.; Shah, S. P.; Prentice, L. M.; Marra, M. A.; Kiefer, J.; Zismann, V. L.; Mceachron, T. A.; Salhia, B.; Prat, J.; D'Angelo, E.; Clarke, B. A.; Pressey, J. G.; Farley, J. H.; Anthony, S. P.; Roden, R. B. S.; Cunliffe, H. E.; Huntsman, D. G.; Trent, J. M.
A variant in FTO shows association with melanoma risk not due to BMI
2013-01-01 Iles, Mm; Law, Mh; Stacey, Sn; Han, J; Fang, S; Pfeiffer, R; Harland, M; Macgregor, S; Taylor, Jc; Aben, Kk; Akslen, La; Avril, Mf; Azizi, E; Bakker, B; Benediktsdottir, Kr; Bergman, W; Scarrà, Gb; Brown, Km; Calista, D; Chaudru, V; Fargnoli, MARIA CONCETTA; Cust, Ae; Demenais, F; de Waal, Ac; Dębniak, T; Elder, De; Friedman, E; Galan, P; Ghiorzo, P; Gillanders, Em; Goldstein, Am; Gruis, Na; Hansson, J; Helsing, P; Hočevar, M; Höiom, V; Hopper, Jl; Ingvar, C; Janssen, M; Jenkins, Ma; Kanetsky, Pa; Kiemeney, La; Lang, J; Lathrop, Gm; Leachman, S; Lee, Je; Lubiński, J; Mackie, Rm; Mann, Gj; Martin, Ng; Mayordomo, Ji; Molven, A; Mulder, S; Nagore, E; Novaković, S; Okamoto, I; Olafsson, Jh; Olsson, H; Pehamberger, H; Peris, Ketty; Grasa, Mp; Planelles, D; Puig, S; Puig Butille, Ja; Randerson Moor, J; Requena, C; Rivoltini, L; Rodolfo, M; Santinami, M; Sigurgeirsson, B; Snowden, H; Song, F; Sulem, P; Thorisdottir, K; Tuominen, R; Van Belle, P; van der Stoep, N; van Rossum, Mm; Wei, Q; Wendt, J; Zelenika, D; Zhang, M; Landi, Mt; Thorleifsson, G; Bishop, Dt; Amos, Ci; Hayward, Nk; Stefansson, K; Bishop, Ja; Barrett, Jh; Genomel, Consortium; Q., Mega; Amfs, Investigators
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| Osteoclast-poor human osteopetrosis due to mutations in RANKL | 1-gen-2007 | Sobacchi, C; Frattini, A; Guerrini, M. M.; Abinun, M; Pangrazio, A; Susani, L; Bredius, R; Mancini, G; Cant, A; Bishop, N; Grabowski, P; DEL FATTORE, A; Messina, C; Errigo, G; Coxon, F. P.; Scott, D. I.; Teti, ANNA MARIA; Rogers, M. J.; Vezzoni, P; Villa, A; Helfrich, M. H. | |
| Rare missense variants in POT1 predispose to familial cutaneous malignant melanoma | 1-gen-2014 | Shi, J; Yang, Xr; Ballew, B; Rotunno, M; Calista, D; Fargnoli, MARIA CONCETTA; Ghiorzo, P; Bressac de Paillerets, B; Nagore, E; Avril, Mf; Caporaso, Ne; Mcmaster, Ml; Cullen, M; Wang, Z; Zhang, X; NCI DCEG Cancer Sequencing Working, Group; NCI DCEG Cancer Genomics Research, Laboratory; French Familial Melanoma Study, Group; Bruno, W; Pastorino, L; Queirolo, P; Banuls Roca, J; Garcia Casado, Z; Vaysse, A; Mohamdi, H; Riazalhosseini, Y; Foglio, M; Jouenne, F; Hua, X; Hyland, Pl; Yin, J; Vallabhaneni, H; Chai, W; Minghetti, P; Pellegrini, C; Ravichandran, S; Eggermont, A; Lathrop, M; Peris, K; Scarra, Gb; Landi, G; Savage, Sa; Sampson, Jn; He, J; Yeager, M; Goldin, Lr; Demenais, F; Chanock, Sj; Tucker, Ma; Goldstein, Am; Liu, Y; Landi, M. T. | |
| Small cell carcinoma of the ovary, hypercalcemic type, displays frequent inactivating germline and somatic mutations in SMARCA4 | 1-gen-2014 | Ramos, P.; Karnezis, A. N.; Craig, D. W.; Sekulic, A.; Russell, M. L.; Hendricks, W. P. D.; Corneveaux, J. J.; Barrett, M. T.; Shumansky, K.; Yang, Y.; Shah, S. P.; Prentice, L. M.; Marra, M. A.; Kiefer, J.; Zismann, V. L.; Mceachron, T. A.; Salhia, B.; Prat, J.; D'Angelo, E.; Clarke, B. A.; Pressey, J. G.; Farley, J. H.; Anthony, S. P.; Roden, R. B. S.; Cunliffe, H. E.; Huntsman, D. G.; Trent, J. M. | |
| A variant in FTO shows association with melanoma risk not due to BMI | 1-gen-2013 | Iles, Mm; Law, Mh; Stacey, Sn; Han, J; Fang, S; Pfeiffer, R; Harland, M; Macgregor, S; Taylor, Jc; Aben, Kk; Akslen, La; Avril, Mf; Azizi, E; Bakker, B; Benediktsdottir, Kr; Bergman, W; Scarrà, Gb; Brown, Km; Calista, D; Chaudru, V; Fargnoli, MARIA CONCETTA; Cust, Ae; Demenais, F; de Waal, Ac; Dębniak, T; Elder, De; Friedman, E; Galan, P; Ghiorzo, P; Gillanders, Em; Goldstein, Am; Gruis, Na; Hansson, J; Helsing, P; Hočevar, M; Höiom, V; Hopper, Jl; Ingvar, C; Janssen, M; Jenkins, Ma; Kanetsky, Pa; Kiemeney, La; Lang, J; Lathrop, Gm; Leachman, S; Lee, Je; Lubiński, J; Mackie, Rm; Mann, Gj; Martin, Ng; Mayordomo, Ji; Molven, A; Mulder, S; Nagore, E; Novaković, S; Okamoto, I; Olafsson, Jh; Olsson, H; Pehamberger, H; Peris, Ketty; Grasa, Mp; Planelles, D; Puig, S; Puig Butille, Ja; Randerson Moor, J; Requena, C; Rivoltini, L; Rodolfo, M; Santinami, M; Sigurgeirsson, B; Snowden, H; Song, F; Sulem, P; Thorisdottir, K; Tuominen, R; Van Belle, P; van der Stoep, N; van Rossum, Mm; Wei, Q; Wendt, J; Zelenika, D; Zhang, M; Landi, Mt; Thorleifsson, G; Bishop, Dt; Amos, Ci; Hayward, Nk; Stefansson, K; Bishop, Ja; Barrett, Jh; Genomel, Consortium; Q., Mega; Amfs, Investigators |
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