Sfoglia per Rivista NATURE GENETICS
AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis.
2010-01-01 Louie, Cm; Caridi, G; Lopes, Vs; Brancati, F; Kispert, A; Lancaster, Ma; Schlossman, Am; Otto, Ea; Leitges, M; Groene H., J; Lopez, I; Gudiseva, Hv; O'Toole, Jf; Vallespin, E; Ayyagari, R; Ayuso, C; Cremers, Fpm; den Hollander, Ai; Koenekoop, Rk; Dallapiccola, B; Ghiggeri, Gm; Hildebrandt, F; Valente, Enza Maria; Williams, Ds; Gleeson, J. G.
Autosomal recessive limb-girdle muscular dystrophy, LGMD2F, is caused by a mutation in the delta-sarcoglycan gene.
1996-01-01 Nigro, V; de Sá Moreira, E; Piluso, G; Vainzof, M; Belsito, A; Politano, L; Puca, Annibale Alessandro; Passos Bueno, Mr; Zatz, M.
CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium.
2012-01-01 Lee, Je; Silhavy, Jl; Zaki, Ms; Schroth, J; Bielas, Sl; Marsh, Se; Olvera, J; Brancati, F; Iannicelli, M; Ikegami, K; Schlossman, Am; Merriman, B; Attié Bitach, T; Logan, Cv; Glass, Ia; Cluckey, A; Louie, Cm; Lee, Jh; Raynes, Hr; Rapin, I; Castroviejo, Ip; Setou, M; Barbot, C; Boltshauser, E; Nelson, Sf; Hildebrandt, F; Johnson, Ca; Doherty, Da; Valente, Enza Maria; Gleeson, J. G.
Epilepsy and brain abnormalities in mice lacking the Otx1 gene.
1996-01-01 Acampora, D; Mazan, S; Avantaggiato, V; Barone, Paolo; Tuorto, F; Lallemand, Y; Brûlet, P; Simeone, A.
Genetic identification of cell types underlying brain complex traits yields insights into the etiology of Parkinson’s disease
2020-01-01 Bryois, J.; Skene, N. G.; Hansen, T. F.; Kogelman, L. J. A.; Watson, H. J.; Liu, Z.; Adan, R.; Alfredsson, L.; Ando, T.; Andreassen, O.; Baker, J.; Bergen, A.; Berrettini, W.; Birgegard, A.; Boden, J.; Boehm, I.; Boni, C.; Boraska Perica, V.; Brandt, H.; Breen, G.; Bryois, J.; Buehren, K.; Bulik, C.; Burghardt, R.; Cassina, M.; Cichon, S.; Clementi, M.; Coleman, J.; Cone, R.; Courtet, P.; Crawford, S.; Crow, S.; Crowley, J.; Danner, U.; Davis, O.; de Zwaan, M.; Dedoussis, G.; Degortes, D.; Desocio, J.; Dick, D.; Dikeos, D.; Dina, C.; Dmitrzak-Weglarz, M.; Docampo Martinez, E.; Duncan, L.; Egberts, K.; Ehrlich, S.; Escaramis, G.; Esko, T.; Estivill, X.; Farmer, A.; Favaro, A.; Fernandez-Aranda, F.; Fichter, M.; Fischer, K.; Focker, M.; Foretova, L.; Forstner, A.; Forzan, M.; Franklin, C.; Gallinger, S.; Gaspar, H.; Giegling, I.; Giuranna, J.; Giusti-Rodriquez, P.; Gonidakis, F.; Gordon, S.; Gorwood, P.; Gratacos Mayora, M.; Grove, J.; Guillaume, S.; Guo, Y.; Hakonarson, H.; Halmi, K.; Hanscombe, K.; Hatzikotoulas, K.; Hauser, J.; Hebebrand, J.; Helder, S.; Henders, A.; Herms, S.; Herpertz-Dahlmann, B.; Herzog, W.; Hinney, A.; Horwood, L. J.; Hubel, C.; Huckins, L.; Hudson, J.; Imgart, H.; Inoko, H.; Janout, V.; Jimenez-Murcia, S.; Johnson, C.; Jordan, J.; Julia, A.; Jureus, A.; Kalsi, G.; Kaminska, D.; Kaplan, A.; Kaprio, J.; Karhunen, L.; Karwautz, A.; Kas, M.; Kaye, W.; Kennedy, J.; Kennedy, M.; Keski-Rahkonen, A.; Kiezebrink, K.; Kim, Y. -R.; Kirk, K.; Klareskog, L.; Klump, K.; Knudsen, G. P.; La Via, M.; Landen, M.; Larsen, J.; Le Hellard, S.; Leppa, V.; Levitan, R.; Li, D.; Lichtenstein, P.; Lilenfeld, L.; Lin, B. D.; Lissowska, J.; Luykx, J.; Magistretti, P.; Maj, M.; Mannik, K.; Marsal, S.; Marshall, C.; Martin, N.; Mattheisen, M.; Mattingsdal, M.; Mcdevitt, S.; Mcguffin, P.; Medland, S.; Metspalu, A.; Meulenbelt, I.; Micali, N.; Mitchell, J.; Mitchell, K.; Monteleone, P.; Monteleone, A. M.; Montgomery, G.; Mortensen, P. B.; Munn-Chernoff, M.; Nacmias, B.; Navratilova, M.; Norring, C.; Ntalla, I.; Olsen, C.; Ophoff, R.; O'Toole, J.; Padyukov, L.; Palotie, A.; Pantel, J.; Papezova, H.; Parker, R.; Pearson, J.; Pedersen, N.; Petersen, L.; Pinto, D.; Purves, K.; Rabionet, R.; Raevuori, A.; Ramoz, N.; Reichborn-Kjennerud, T.; Ricca, V.; Ripatti, S.; Ripke, S.; Ritschel, F.; Roberts, M.; Rotondo, A.; Rujescu, D.; Rybakowski, F.; Santonastaso, P.; Scherag, A.; Scherer, S.; Schmidt, U.; Schork, N.; Schosser, A.; Seitz, J.; Slachtova, L.; Slagboom, P. E.; Slof-Op 't Landt, M.; Slopien, A.; Sorbi, S.; Strober, M.; Stuber, G.; Sullivan, P.; Swiatkowska, B.; Szatkiewicz, J.; Tachmazidou, I.; Tenconi, E.; Thornton, L.; Tortorella, A.; Tozzi, F.; Treasure, J.; Tsitsika, A.; Tyszkiewicz-Nwafor, M.; Tziouvas, K.; van Elburg, A.; van Furth, E.; Wade, T.; Wagner, G.; Walton, E.; Watson, H.; Werge, T.; Whiteman, D.; Widen, E.; Woodside, D. B.; Yao, S.; Yilmaz, Z.; Zeggini, E.; Zerwas, S.; Zipfel, S.; Anttila, V.; Artto, V.; Belin, A. C.; de Boer, I.; Boomsma, D. I.; Borte, S.; Chasman, D. I.; Cherkas, L.; Christensen, A. F.; Cormand, B.; Cuenca-Leon, E.; Davey-Smith, G.; Dichgans, M.; van Duijn, C.; Esko, T.; Esserlind, A. L.; Ferrari, M.; Frants, R. R.; Freilinger, T.; Furlotte, N.; Gormley, P.; Griffiths, L.; Hamalainen, E.; Hansen, T. F.; Hiekkala, M.; Ikram, M. A.; Ingason, A.; Jarvelin, M. -R.; Kajanne, R.; Kallela, M.; Kaprio, J.; Kaunisto, M.; Kogelman, L. J. A.; Kubisch, C.; Kurki, M.; Kurth, T.; Launer, L.; Lehtimaki, T.; Lessel, D.; Ligthart, L.; Litterman, N.; Maagdenberg, A.; Macaya, A.; Malik, R.; Mangino, M.; Mcmahon, G.; Muller-Myhsok, B.; Neale, B. M.; Northover, C.; Nyholt, D. R.; Olesen, J.; Palotie, A.; Palta, P.; Pedersen, L.; Pedersen, N.; Posthuma, D.; Pozo-Rosich, P.; Pressman, A.; Raitakari, O.; Schurks, M.; Sintas, C.; Stefansson, K.; Stefansson, H.; Steinberg, S.; Strachan, D.; Terwindt, G.; Vila-Pueyo, M.; Wessman, M.; Winsvold, B. S.; Zhao, H.; Zwart, J. A.; Agee, M.; Alipanahi, B.; Auton, A.; Bell, R.; Bryc, K.; Elson, S.; Fontanillas, P.; Furlotte, N.; Heilbron, K.; Hinds, D.; Huber, K.; Kleinman, A.; Litterman, N.; Mccreight, J.; Mcintyre, M.; Mountain, J.; Noblin, E.; Northover, C.; Pitts, S.; Sathirapongsasuti, J.; Sazonova, O.; Shelton, J.; Shringarpure, S.; Tian, C.; Tung, J.; Vacic, V.; Wilson, C.; Brueggeman, L.; Breen, G.; Bulik, C. M.; Arenas, E.; Hjerling-Leffler, J.; Sullivan, P. F.
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 |
|---|---|---|---|
| AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis. | 1-gen-2010 | Louie, Cm; Caridi, G; Lopes, Vs; Brancati, F; Kispert, A; Lancaster, Ma; Schlossman, Am; Otto, Ea; Leitges, M; Groene H., J; Lopez, I; Gudiseva, Hv; O'Toole, Jf; Vallespin, E; Ayyagari, R; Ayuso, C; Cremers, Fpm; den Hollander, Ai; Koenekoop, Rk; Dallapiccola, B; Ghiggeri, Gm; Hildebrandt, F; Valente, Enza Maria; Williams, Ds; Gleeson, J. G. | |
| Autosomal recessive limb-girdle muscular dystrophy, LGMD2F, is caused by a mutation in the delta-sarcoglycan gene. | 1-gen-1996 | Nigro, V; de Sá Moreira, E; Piluso, G; Vainzof, M; Belsito, A; Politano, L; Puca, Annibale Alessandro; Passos Bueno, Mr; Zatz, M. | |
| CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium. | 1-gen-2012 | Lee, Je; Silhavy, Jl; Zaki, Ms; Schroth, J; Bielas, Sl; Marsh, Se; Olvera, J; Brancati, F; Iannicelli, M; Ikegami, K; Schlossman, Am; Merriman, B; Attié Bitach, T; Logan, Cv; Glass, Ia; Cluckey, A; Louie, Cm; Lee, Jh; Raynes, Hr; Rapin, I; Castroviejo, Ip; Setou, M; Barbot, C; Boltshauser, E; Nelson, Sf; Hildebrandt, F; Johnson, Ca; Doherty, Da; Valente, Enza Maria; Gleeson, J. G. | |
| Epilepsy and brain abnormalities in mice lacking the Otx1 gene. | 1-gen-1996 | Acampora, D; Mazan, S; Avantaggiato, V; Barone, Paolo; Tuorto, F; Lallemand, Y; Brûlet, P; Simeone, A. | |
| Genetic identification of cell types underlying brain complex traits yields insights into the etiology of Parkinson’s disease | 1-gen-2020 | Bryois, J.; Skene, N. G.; Hansen, T. F.; Kogelman, L. J. A.; Watson, H. J.; Liu, Z.; Adan, R.; Alfredsson, L.; Ando, T.; Andreassen, O.; Baker, J.; Bergen, A.; Berrettini, W.; Birgegard, A.; Boden, J.; Boehm, I.; Boni, C.; Boraska Perica, V.; Brandt, H.; Breen, G.; Bryois, J.; Buehren, K.; Bulik, C.; Burghardt, R.; Cassina, M.; Cichon, S.; Clementi, M.; Coleman, J.; Cone, R.; Courtet, P.; Crawford, S.; Crow, S.; Crowley, J.; Danner, U.; Davis, O.; de Zwaan, M.; Dedoussis, G.; Degortes, D.; Desocio, J.; Dick, D.; Dikeos, D.; Dina, C.; Dmitrzak-Weglarz, M.; Docampo Martinez, E.; Duncan, L.; Egberts, K.; Ehrlich, S.; Escaramis, G.; Esko, T.; Estivill, X.; Farmer, A.; Favaro, A.; Fernandez-Aranda, F.; Fichter, M.; Fischer, K.; Focker, M.; Foretova, L.; Forstner, A.; Forzan, M.; Franklin, C.; Gallinger, S.; Gaspar, H.; Giegling, I.; Giuranna, J.; Giusti-Rodriquez, P.; Gonidakis, F.; Gordon, S.; Gorwood, P.; Gratacos Mayora, M.; Grove, J.; Guillaume, S.; Guo, Y.; Hakonarson, H.; Halmi, K.; Hanscombe, K.; Hatzikotoulas, K.; Hauser, J.; Hebebrand, J.; Helder, S.; Henders, A.; Herms, S.; Herpertz-Dahlmann, B.; Herzog, W.; Hinney, A.; Horwood, L. J.; Hubel, C.; Huckins, L.; Hudson, J.; Imgart, H.; Inoko, H.; Janout, V.; Jimenez-Murcia, S.; Johnson, C.; Jordan, J.; Julia, A.; Jureus, A.; Kalsi, G.; Kaminska, D.; Kaplan, A.; Kaprio, J.; Karhunen, L.; Karwautz, A.; Kas, M.; Kaye, W.; Kennedy, J.; Kennedy, M.; Keski-Rahkonen, A.; Kiezebrink, K.; Kim, Y. -R.; Kirk, K.; Klareskog, L.; Klump, K.; Knudsen, G. P.; La Via, M.; Landen, M.; Larsen, J.; Le Hellard, S.; Leppa, V.; Levitan, R.; Li, D.; Lichtenstein, P.; Lilenfeld, L.; Lin, B. D.; Lissowska, J.; Luykx, J.; Magistretti, P.; Maj, M.; Mannik, K.; Marsal, S.; Marshall, C.; Martin, N.; Mattheisen, M.; Mattingsdal, M.; Mcdevitt, S.; Mcguffin, P.; Medland, S.; Metspalu, A.; Meulenbelt, I.; Micali, N.; Mitchell, J.; Mitchell, K.; Monteleone, P.; Monteleone, A. M.; Montgomery, G.; Mortensen, P. B.; Munn-Chernoff, M.; Nacmias, B.; Navratilova, M.; Norring, C.; Ntalla, I.; Olsen, C.; Ophoff, R.; O'Toole, J.; Padyukov, L.; Palotie, A.; Pantel, J.; Papezova, H.; Parker, R.; Pearson, J.; Pedersen, N.; Petersen, L.; Pinto, D.; Purves, K.; Rabionet, R.; Raevuori, A.; Ramoz, N.; Reichborn-Kjennerud, T.; Ricca, V.; Ripatti, S.; Ripke, S.; Ritschel, F.; Roberts, M.; Rotondo, A.; Rujescu, D.; Rybakowski, F.; Santonastaso, P.; Scherag, A.; Scherer, S.; Schmidt, U.; Schork, N.; Schosser, A.; Seitz, J.; Slachtova, L.; Slagboom, P. E.; Slof-Op 't Landt, M.; Slopien, A.; Sorbi, S.; Strober, M.; Stuber, G.; Sullivan, P.; Swiatkowska, B.; Szatkiewicz, J.; Tachmazidou, I.; Tenconi, E.; Thornton, L.; Tortorella, A.; Tozzi, F.; Treasure, J.; Tsitsika, A.; Tyszkiewicz-Nwafor, M.; Tziouvas, K.; van Elburg, A.; van Furth, E.; Wade, T.; Wagner, G.; Walton, E.; Watson, H.; Werge, T.; Whiteman, D.; Widen, E.; Woodside, D. B.; Yao, S.; Yilmaz, Z.; Zeggini, E.; Zerwas, S.; Zipfel, S.; Anttila, V.; Artto, V.; Belin, A. C.; de Boer, I.; Boomsma, D. I.; Borte, S.; Chasman, D. I.; Cherkas, L.; Christensen, A. F.; Cormand, B.; Cuenca-Leon, E.; Davey-Smith, G.; Dichgans, M.; van Duijn, C.; Esko, T.; Esserlind, A. L.; Ferrari, M.; Frants, R. R.; Freilinger, T.; Furlotte, N.; Gormley, P.; Griffiths, L.; Hamalainen, E.; Hansen, T. F.; Hiekkala, M.; Ikram, M. A.; Ingason, A.; Jarvelin, M. -R.; Kajanne, R.; Kallela, M.; Kaprio, J.; Kaunisto, M.; Kogelman, L. J. A.; Kubisch, C.; Kurki, M.; Kurth, T.; Launer, L.; Lehtimaki, T.; Lessel, D.; Ligthart, L.; Litterman, N.; Maagdenberg, A.; Macaya, A.; Malik, R.; Mangino, M.; Mcmahon, G.; Muller-Myhsok, B.; Neale, B. M.; Northover, C.; Nyholt, D. R.; Olesen, J.; Palotie, A.; Palta, P.; Pedersen, L.; Pedersen, N.; Posthuma, D.; Pozo-Rosich, P.; Pressman, A.; Raitakari, O.; Schurks, M.; Sintas, C.; Stefansson, K.; Stefansson, H.; Steinberg, S.; Strachan, D.; Terwindt, G.; Vila-Pueyo, M.; Wessman, M.; Winsvold, B. S.; Zhao, H.; Zwart, J. A.; Agee, M.; Alipanahi, B.; Auton, A.; Bell, R.; Bryc, K.; Elson, S.; Fontanillas, P.; Furlotte, N.; Heilbron, K.; Hinds, D.; Huber, K.; Kleinman, A.; Litterman, N.; Mccreight, J.; Mcintyre, M.; Mountain, J.; Noblin, E.; Northover, C.; Pitts, S.; Sathirapongsasuti, J.; Sazonova, O.; Shelton, J.; Shringarpure, S.; Tian, C.; Tung, J.; Vacic, V.; Wilson, C.; Brueggeman, L.; Breen, G.; Bulik, C. M.; Arenas, E.; Hjerling-Leffler, J.; Sullivan, P. F. | |
| 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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