Sfoglia per Rivista NATURE GENETICS
Heterozygous mutations of the kinesin KIF21A in congenital fibrosis of the extraocular muscles type 1 (CFEOM1).
2003-01-01 Yamada, K; Andrews, C; Chan, Wm; Mckeown, Ca; Magli, Adriano; de Berardinis, T; Loewenstein, A; Lazar, M; O'Keefe, M; Letson, R; London, A; Ruttum, M; Matsumoto, N; Saito, N; Morris, L; Del Monte, M; Johnson, Rh; Uyama, E; Houtman, Wa; de Vries, B; Carlow, Tj; Hart, Bl; Krawiecki, N; Shoffner, J; Vogel, Mc; Katowitz, J; Goldstein, Sm; Levin, Av; Sener, Ec; Ozturk, Bt; Akarsu, An; Brodsky, Mc; Hanisch, F; Cruse, Rp; Zubcov, Aa; Robb, Rm; Roggenkäemper, P; Gottlob, I; Kowal, L; Battu, R; Traboulsi, Ei; Franceschini, P; Newlin, A; Demer, Jl; Engle, E. C.
Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome.
2006-01-01 Valente, Enza Maria; Silhavy, Jl; Brancati, F; Barrano, G; Krishnaswami, Sr; Castori, M; Lancaster, Ma; Boltshauser, E; Boccone, L; Al Gazali, L; Fazzi, E; Signorini, S; Louie, Cm; Bellacchio, E; Related Disorders Study Group, Ij; Bertini, E; Dallapiccola, B; Gleeson, Jg
Mutations in the inositol polyphosphate-5-phosphatase E gene link phosphatidyl inositol signaling to the ciliopathies
2009-01-01 Bielas, S; Silhavy, Jl; Brancati, F; Kisseleva, Mv; Al Gazali, L; Sztriha, L; Bayoumi, Ra; Zaki, Ms; Abdel Aleem, A; Rosti, O; 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, Enza Maria; Gleeson, Jg
Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes.
2010-01-01 Valente, Enza Maria; Logan, Cv; Mougou Zerelli, S; Lee, Jh; Silhavy, Jl; Brancati, F; 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, J. G.
Mutations in ZBTB20 cause Primrose syndrome.
2014-01-01 Cordeddu, V; Redeker, B; Stellacci, E; Jongejan, A; Fragale, A; Bradley, Te; Anselmi, M; Ciolfi, A; Cecchetti, S; Muto, V; Bernardini, L; Azage, M; Carvalho, Dr; Espay, Aj; Male, A; Molin, Am; Posmyk, R; Battisti, C; Casertano, A; Melis, D; van Kampen, A; Baas, F; Mannens, Mm; Bocchinfuso, G; Stella, L; Tartaglia, M; Hennekam, Rc
Transcriptional regulator PRDM12 is essential for human pain perception
2015-01-01 Chen, Ya Chun; Auer Grumbach, Michaela; Matsukawa, Shinya; Zitzelsberger, Manuela; Themistocleous, Andreas C; Strom, Tim M; Samara, Chrysanthi; Moore, Adrian W; Cho, Lily Ting Yin; Young, Gareth T; Weiss, Caecilia; Schabhüttl, Maria; Stucka, Rolf; Schmid, Annina B; Parman, Yesim; Graul Neumann, Luitgard; Heinritz, Wolfram; Passarge, Eberhard; Watson, Rosemarie M; Hertz, Jens Michael; Moog, Ute; Baumgartner, Manuela; Valente, Enza Maria; Pereira, Diego; Restrepo, Carlos M; Katona, Istvan; Dusl, Marina; Stendel, Claudia; Wieland, Thomas; Stafford, Fay; Reimann, Frank; von Au, Katja; Finke, Christian; Willems, Patrick J; Nahorski, Michael S; Shaikh, Samiha S; Carvalho, Ofélia P; Nicholas, Adeline K; Karbani, Gulshan; Mcaleer, Maeve A; Cilio, Maria Roberta; Mchugh, John C; Murphy, Sinead M; Irvine, Alan D; Jensen, Uffe Birk; Windhager, Reinhard; Weis, Joachim; Bergmann, Carsten; Rautenstrauss, Bernd; Baets, Jonathan; De Jonghe, Peter; Reilly, Mary M; Kropatsch, Regina; Kurth, Ingo; Chrast, Roman; Michiue, Tatsuo; Bennett, David L. H; Woods, C. Geoffrey; Senderek, Jan
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| Heterozygous mutations of the kinesin KIF21A in congenital fibrosis of the extraocular muscles type 1 (CFEOM1). | 1-gen-2003 | Yamada, K; Andrews, C; Chan, Wm; Mckeown, Ca; Magli, Adriano; de Berardinis, T; Loewenstein, A; Lazar, M; O'Keefe, M; Letson, R; London, A; Ruttum, M; Matsumoto, N; Saito, N; Morris, L; Del Monte, M; Johnson, Rh; Uyama, E; Houtman, Wa; de Vries, B; Carlow, Tj; Hart, Bl; Krawiecki, N; Shoffner, J; Vogel, Mc; Katowitz, J; Goldstein, Sm; Levin, Av; Sener, Ec; Ozturk, Bt; Akarsu, An; Brodsky, Mc; Hanisch, F; Cruse, Rp; Zubcov, Aa; Robb, Rm; Roggenkäemper, P; Gottlob, I; Kowal, L; Battu, R; Traboulsi, Ei; Franceschini, P; Newlin, A; Demer, Jl; Engle, E. C. | |
| Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome. | 1-gen-2006 | Valente, Enza Maria; Silhavy, Jl; Brancati, F; Barrano, G; Krishnaswami, Sr; Castori, M; Lancaster, Ma; Boltshauser, E; Boccone, L; Al Gazali, L; Fazzi, E; Signorini, S; Louie, Cm; Bellacchio, E; Related Disorders Study Group, Ij; Bertini, E; Dallapiccola, B; Gleeson, Jg | |
| Mutations in the inositol polyphosphate-5-phosphatase E gene link phosphatidyl inositol signaling to the ciliopathies | 1-gen-2009 | Bielas, S; Silhavy, Jl; Brancati, F; Kisseleva, Mv; Al Gazali, L; Sztriha, L; Bayoumi, Ra; Zaki, Ms; Abdel Aleem, A; Rosti, O; 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, Enza Maria; Gleeson, Jg | |
| Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes. | 1-gen-2010 | Valente, Enza Maria; Logan, Cv; Mougou Zerelli, S; Lee, Jh; Silhavy, Jl; Brancati, F; 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, J. G. | |
| Mutations in ZBTB20 cause Primrose syndrome. | 1-gen-2014 | Cordeddu, V; Redeker, B; Stellacci, E; Jongejan, A; Fragale, A; Bradley, Te; Anselmi, M; Ciolfi, A; Cecchetti, S; Muto, V; Bernardini, L; Azage, M; Carvalho, Dr; Espay, Aj; Male, A; Molin, Am; Posmyk, R; Battisti, C; Casertano, A; Melis, D; van Kampen, A; Baas, F; Mannens, Mm; Bocchinfuso, G; Stella, L; Tartaglia, M; Hennekam, Rc | |
| Transcriptional regulator PRDM12 is essential for human pain perception | 1-gen-2015 | Chen, Ya Chun; Auer Grumbach, Michaela; Matsukawa, Shinya; Zitzelsberger, Manuela; Themistocleous, Andreas C; Strom, Tim M; Samara, Chrysanthi; Moore, Adrian W; Cho, Lily Ting Yin; Young, Gareth T; Weiss, Caecilia; Schabhüttl, Maria; Stucka, Rolf; Schmid, Annina B; Parman, Yesim; Graul Neumann, Luitgard; Heinritz, Wolfram; Passarge, Eberhard; Watson, Rosemarie M; Hertz, Jens Michael; Moog, Ute; Baumgartner, Manuela; Valente, Enza Maria; Pereira, Diego; Restrepo, Carlos M; Katona, Istvan; Dusl, Marina; Stendel, Claudia; Wieland, Thomas; Stafford, Fay; Reimann, Frank; von Au, Katja; Finke, Christian; Willems, Patrick J; Nahorski, Michael S; Shaikh, Samiha S; Carvalho, Ofélia P; Nicholas, Adeline K; Karbani, Gulshan; Mcaleer, Maeve A; Cilio, Maria Roberta; Mchugh, John C; Murphy, Sinead M; Irvine, Alan D; Jensen, Uffe Birk; Windhager, Reinhard; Weis, Joachim; Bergmann, Carsten; Rautenstrauss, Bernd; Baets, Jonathan; De Jonghe, Peter; Reilly, Mary M; Kropatsch, Regina; Kurth, Ingo; Chrast, Roman; Michiue, Tatsuo; Bennett, David L. H; Woods, C. Geoffrey; Senderek, Jan |
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