Sfoglia per Rivista
Keratin 13 point mutation underlies hereditary mucosal epithela disorder, white sponge nevus
1995-01-01 Richard, G.; DE LAURENZI, Vincenzo; Didona, B.; Bale, S. J. COMPTON J. G.
Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies.
2009-01-01 Bielas, Sl; Silhavy, Jl; Brancati, Francesco; Kisseleva, Mv; Al Gazali, L; Sztriha, L; Bayoumi, Ra; Zaki, Ms; Abdel Aleem, A; Rosti, Ro; Kayserili, H; Swistun, D; Scott, Lc; Bertini, E; Boltshauser, E; Fazzi, E; Travaglini, L; Field, Sj; Gayral, S; Jacoby, M; Schurmans, S; Dallapiccola, B; Majerus, Pw; Valente, Em; Gleeson, Jg
Mutations in PYCR1 cause cutis laxa with progeroid features.
2009-01-01 Reversade, B; Escande Beillard, N; Dimopoulou, A; Fischer, B; Chng, Sc; Li, Y; Shboul, M; Tham, Py; Kayserili, H; Al Gazali, L; Shahwan, M; Brancati, Francesco; Lee, H; O'Connor, Bd; Schmidt von Kegler, M; Merriman, B; Nelson, Sf; Masri, A; Alkazaleh, F; Guerra, D; Ferrari, P; Nanda, A; Rajab, A; Markie, D; Gray, M; Nelson, J; Grix, A; Sommer, A; Savarirayan, R; Janecke, Ar; Steichen, E; Sillence, D; Hausser, I; Budde, B; Nürnberg, G; Nürnberg, P; Seemann, P; Kunkel, D; Zambruno, G; Dallapiccola, B; Schuelke, M; Robertson, S; Hamamy, H; Wollnik, B; Van Maldergem, L; Mundlos, S; Kornak, U.
Mutations in the CEP290 gene, encoding a centrosomal protein, cause pleiotropic forms of Joubert Syndrome.
2006-01-01 Valente, Em; Silhavy, Jl; Brancati, Francesco; Barrano, G; Krishnaswami, Sr; Castori, M; Lancaster, Ma; Boltshauser, E; Boccone, L; AL GAZALI, L; Fazzi, E; Signorini, S; Louie, Cm; Bellacchio, E; Bertini, E; DALLA PICCOLA, B; Jg, Gleeson
Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes.
2010-01-01 Valente, Em; Logan, Cv; Mougou Zerelli, S; Lee, Jh; Silhavy, Jl; Brancati, Francesco; Iannicelli, M; Travaglini, L; Romani, S; Illi, B; Adams, M; Szymanska, K; Mazzotta, A; Lee, Je; Tolentino, Jc; Swistun, D; Salpietro, Cd; Fede, C; Gabriel, S; Russ, C; Cibulskis, K; Sougnez, C; Hildebrandt, F; Otto, Ea; Held, S; Diplas, Bh; Davis, Ee; Mikula, M; Strom, Cm; Ben Zeev, B; Lev, D; Sagie, Tl; Michelson, M; Yaron, Y; Krause, A; Boltshauser, E; Elkhartoufi, N; Roume, J; Shalev, S; Munnich, A; Saunier, S; Inglehearn, C; Saad, A; Alkindy, A; Thomas, S; Vekemans, M; Dallapiccola, B; Katsanis, N; Johnson, Ca; Attié Bitach, T; Gleeson, Jg
Sjögren-Larsson Syndrome is caused by mutations in the fatty aldehyde dehydrogenase gene
1996-01-01 DE LAURENZI, Vincenzo; Rogers, R. R.; Hamrock, D. J.; Marekov, L. N.; Steinert, P. M.; Compton, J. G.; Markova, N.; Rizzo, W. B.
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.
Titolo | Data di pubblicazione | Autore(i) | File |
---|---|---|---|
Keratin 13 point mutation underlies hereditary mucosal epithela disorder, white sponge nevus | 1995 | Richard, G.; DE LAURENZI, Vincenzo; Didona, B.; Bale, S. J. COMPTON J. G. | |
Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies. | 2009 | Bielas, Sl; Silhavy, Jl; Brancati, Francesco; Kisseleva, Mv; Al Gazali, L; Sztriha, L; Bayoumi, Ra; Zaki, Ms; Abdel Aleem, A; Rosti, Ro; Kayserili, H; Swistun, D; Scott, Lc; Bertini, E; Boltshauser, E; Fazzi, E; Travaglini, L; Field, Sj; Gayral, S; Jacoby, M; Schurmans, S; Dallapiccola, B; Majerus, Pw; Valente, Em; Gleeson, Jg | |
Mutations in PYCR1 cause cutis laxa with progeroid features. | 2009 | Reversade, B; Escande Beillard, N; Dimopoulou, A; Fischer, B; Chng, Sc; Li, Y; Shboul, M; Tham, Py; Kayserili, H; Al Gazali, L; Shahwan, M; Brancati, Francesco; Lee, H; O'Connor, Bd; Schmidt von Kegler, M; Merriman, B; Nelson, Sf; Masri, A; Alkazaleh, F; Guerra, D; Ferrari, P; Nanda, A; Rajab, A; Markie, D; Gray, M; Nelson, J; Grix, A; Sommer, A; Savarirayan, R; Janecke, Ar; Steichen, E; Sillence, D; Hausser, I; Budde, B; Nürnberg, G; Nürnberg, P; Seemann, P; Kunkel, D; Zambruno, G; Dallapiccola, B; Schuelke, M; Robertson, S; Hamamy, H; Wollnik, B; Van Maldergem, L; Mundlos, S; Kornak, U. | |
Mutations in the CEP290 gene, encoding a centrosomal protein, cause pleiotropic forms of Joubert Syndrome. | 2006 | Valente, Em; Silhavy, Jl; Brancati, Francesco; Barrano, G; Krishnaswami, Sr; Castori, M; Lancaster, Ma; Boltshauser, E; Boccone, L; AL GAZALI, L; Fazzi, E; Signorini, S; Louie, Cm; Bellacchio, E; Bertini, E; DALLA PICCOLA, B; Jg, Gleeson | |
Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes. | 2010 | Valente, Em; Logan, Cv; Mougou Zerelli, S; Lee, Jh; Silhavy, Jl; Brancati, Francesco; Iannicelli, M; Travaglini, L; Romani, S; Illi, B; Adams, M; Szymanska, K; Mazzotta, A; Lee, Je; Tolentino, Jc; Swistun, D; Salpietro, Cd; Fede, C; Gabriel, S; Russ, C; Cibulskis, K; Sougnez, C; Hildebrandt, F; Otto, Ea; Held, S; Diplas, Bh; Davis, Ee; Mikula, M; Strom, Cm; Ben Zeev, B; Lev, D; Sagie, Tl; Michelson, M; Yaron, Y; Krause, A; Boltshauser, E; Elkhartoufi, N; Roume, J; Shalev, S; Munnich, A; Saunier, S; Inglehearn, C; Saad, A; Alkindy, A; Thomas, S; Vekemans, M; Dallapiccola, B; Katsanis, N; Johnson, Ca; Attié Bitach, T; Gleeson, Jg | |
Sjögren-Larsson Syndrome is caused by mutations in the fatty aldehyde dehydrogenase gene | 1996 | DE LAURENZI, Vincenzo; Rogers, R. R.; Hamrock, D. J.; Marekov, L. N.; Steinert, P. M.; Compton, J. G.; Markova, N.; Rizzo, W. B. | |
Small cell carcinoma of the ovary, hypercalcemic type, displays frequent inactivating germline and somatic mutations in SMARCA4 | 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. |
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