Sfoglia per Rivista NATURE GENETICS
A restricted spectrum of NRAS mutations causes Noonan syndrome.
2010-01-01 Cirstea, Ic; Kutsche, K; Dvorsky, R; Gremer, L; Carta, C; Horn, D; Roberts, Ae; Lepri, F; Merbitz Zahradnik, T; König, R; Kratz, Cp; Pantaleoni, F; Dentici, Ml; Joshi, Va; Kucherlapati, Rs; Mazzanti, L; Mundlos, S; Patton, Ma; Silengo, Mc; Rossi, C; Zampino, G; Digilio, C; Stuppia, Liborio; Seemanova, E; Pennacchio, La; Gelb, Bd; Dallapiccola, B; Wittinghofer, A; Ahmadian, Mr; Tartaglia, M; Zenker, M.
AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis.
2010-01-01 C. M., Louie; G., Caridi; V. S., Lopes; Brancati, Francesco; A., Kispert; M. A., Lancaster; A. M., Schlossman; E. A., Otto; M., Leitges; H., Gröne; I., Lopez; H. V., Gudiseva; J. F., O'Toole; E., Vallespin; R., Ayyagari; C., Ayuso; F. P., M.; A. I., Den; R. K., Koenekoop; B., Dallapiccola; G. M., Ghiggeri; F., Hildebrandt; E. M., Valente; D. S., Williams; J. G., Gleeson
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, Francesco; 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, Em; Gleeson, Jg
Erratum: Small cell carcinoma of the ovary, hypercalcemic type, displays frequent inactivating germline and somatic mutations in SMARCA4 (Nature Genetics (2014) 46 (427-429))
2014-01-01 Ramos, P.; Karnezis, A. N.; Craig, D. W.; Sekulic, A.; Russel, 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.
Genome-wide analysis of 53,400 people with irritable bowel syndrome highlights shared genetic pathways with mood and anxiety disorders
2021-01-01 Eijsbouts, C.; Zheng, T.; Kennedy, N. A.; Bonfiglio, F.; Anderson, C. A.; Moutsianas, L.; Holliday, J.; Shi, J.; Shringarpure, S.; Agee, M.; Aslibekyan, S.; Auton, A.; Bell, R. K.; Bryc, K.; Clark, S. K.; Elson, S. L.; Fletez-Brant, K.; Fontanillas, P.; Furlotte, N. A.; Gandhi, P. M.; Heilbron, K.; Hicks, B.; Hinds, D. A.; Huber, K. E.; Jewett, E. M.; Jiang, Y.; Kleinman, A.; Lin, K. -H.; Litterman, N. K.; Luff, M. K.; Mccreight, J. C.; Mcintyre, M. H.; Mcmanus, K. F.; Mountain, J. L.; Mozaffari, S. V.; Nandakumar, P.; Noblin, E. S.; Northover, C. A. M.; O'Connell, J.; Petrakovitz, A. A.; Pitts, S. J.; Poznik, G. D.; Sathirapongsasuti, J. F.; Shastri, A. J.; Shelton, J. F.; Tian, C.; Tung, J. Y.; Tunney, R. J.; Vacic, V.; Wang, X.; Zare, A. S.; Voda, A. -I.; Kashyap, P.; Chang, L.; Mayer, E.; Heitkemper, M.; Sayuk, G. S.; Ringel-Kulka, T.; Ringel, Y.; Chey, W. D.; Eswaran, S.; Merchant, J. L.; Shulman, R. J.; Bujanda, L.; Garcia-Etxebarria, K.; Dlugosz, A.; Lindberg, G.; Schmidt, P. T.; Karling, P.; Ohlsson, B.; Walter, S.; Faresjo, A. O.; Simren, M.; Halfvarson, J.; Portincasa, P.; Barbara, G.; Usai-Satta, P.; Neri, M.; Nardone, G.; Cuomo, R.; Galeazzi, F.; Bellini, M.; Latiano, A.; Houghton, L.; Jonkers, D.; Kurilshikov, A.; Weersma, R. K.; Netea, M.; Tesarz, J.; Gauss, A.; Goebel-Stengel, M.; Andresen, V.; Frieling, T.; Pehl, C.; Schaefert, R.; Niesler, B.; Lieb, W.; Hanevik, K.; Langeland, N.; Wensaas, K. -A.; Litleskare, S.; Gabrielsen, M. E.; Thomas, L.; Thijs, V.; Lemmens, R.; Van Oudenhove, L.; Wouters, M.; Farrugia, G.; Franke, A.; Hubenthal, M.; Abecasis, G.; Zawistowski, M.; Skogholt, A. H.; Ness-Jensen, E.; Hveem, K.; Esko, T.; Teder-Laving, M.; Zhernakova, A.; Camilleri, M.; Boeckxstaens, G.; Whorwell, P. J.; Spiller, R.; Mcvean, G.; D'Amato, M.; Jostins, L.; Parkes, M.
Genome-wide maps of recombination and chromosome segregation in human oocytes and embryos show selection for maternal recombination rates
2015-01-01 Ottolini, Christian S; Newnham, Louise; Capalbo, Antonio; Natesan, Senthilkumar A; Joshi, Hrishikesh A; Cimadomo, Danilo; Griffin, Darren K; Sage, Karen; Summers, Michael C; Thornhill, Alan R; Housworth, Elizabeth; Herbert, Alex D; Rienzi, Laura; Ubaldi, Filippo M; Handyside, Alan H; Hoffmann, Eva R
Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin
2008-01-01 Hennies, Hc; Kornak, U; Zhang, H; Egerer, J; Zhang, X; Seifert, W; Kühnisch, J; Budde, B; Nätebus, M; Brancati, Francesco; Wilcox, Wr; Müller, D; Kaplan, Pb; Rajab, A; Zampino, G; Fodale, V; Dallapiccola, B; Newman, W; Metcalfe, K; CLAYTON SMITH, J; Tassabehji, M; Steinmann, B; Barr, Fa; Nürnberg, P; Wieacker, P; Mundlos, S.
The Hippo effector YAP promotes resistance to RAF- and MEK-targeted cancer therapies
2015-01-01 Lin, Luping; Sabnis, Amit J; Chan, Elton; Olivas, Victor; Cade, Lindsay; Pazarentzos, Evangelos; Asthana, Saurabh; Neel, Dana; Yan, Jenny Jiacheng; Lu, Xinyuan; Pham, Luu; Wang, Mingxue M; Karachaliou, Niki; Cao, Maria Gonzalez; Manzano, Jose Luis; Ramirez, Jose Luis; Torres, Jose Miguel Sanchez; Buttitta, Fiamma; Rudin, Charles M; Collisson, Eric A; Algazi, Alain; Robinson, Eric; Osman, Iman; Muñoz-Couselo, Eva; Cortes, Javier; Frederick, Dennie T; Cooper, Zachary A; Mcmahon, Martin; Marchetti, Antonio; Rosell, Rafael; Flaherty, Keith T; Wargo, Jennifer A; Bivona, Trever G
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 |
|---|---|---|---|
| A restricted spectrum of NRAS mutations causes Noonan syndrome. | 2010 | Cirstea, Ic; Kutsche, K; Dvorsky, R; Gremer, L; Carta, C; Horn, D; Roberts, Ae; Lepri, F; Merbitz Zahradnik, T; König, R; Kratz, Cp; Pantaleoni, F; Dentici, Ml; Joshi, Va; Kucherlapati, Rs; Mazzanti, L; Mundlos, S; Patton, Ma; Silengo, Mc; Rossi, C; Zampino, G; Digilio, C; Stuppia, Liborio; Seemanova, E; Pennacchio, La; Gelb, Bd; Dallapiccola, B; Wittinghofer, A; Ahmadian, Mr; Tartaglia, M; Zenker, M. | |
| AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis. | 2010 | C. M., Louie; G., Caridi; V. S., Lopes; Brancati, Francesco; A., Kispert; M. A., Lancaster; A. M., Schlossman; E. A., Otto; M., Leitges; H., Gröne; I., Lopez; H. V., Gudiseva; J. F., O'Toole; E., Vallespin; R., Ayyagari; C., Ayuso; F. P., M.; A. I., Den; R. K., Koenekoop; B., Dallapiccola; G. M., Ghiggeri; F., Hildebrandt; E. M., Valente; D. S., Williams; J. G., Gleeson | |
| CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium. | 2012 | Lee, Je; Silhavy, Jl; Zaki, Ms; Schroth, J; Bielas, Sl; Marsh, Se; Olvera, J; Brancati, Francesco; 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, Em; Gleeson, Jg | |
| Erratum: Small cell carcinoma of the ovary, hypercalcemic type, displays frequent inactivating germline and somatic mutations in SMARCA4 (Nature Genetics (2014) 46 (427-429)) | 2014 | Ramos, P.; Karnezis, A. N.; Craig, D. W.; Sekulic, A.; Russel, 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. | |
| Genome-wide analysis of 53,400 people with irritable bowel syndrome highlights shared genetic pathways with mood and anxiety disorders | 2021 | Eijsbouts, C.; Zheng, T.; Kennedy, N. A.; Bonfiglio, F.; Anderson, C. A.; Moutsianas, L.; Holliday, J.; Shi, J.; Shringarpure, S.; Agee, M.; Aslibekyan, S.; Auton, A.; Bell, R. K.; Bryc, K.; Clark, S. K.; Elson, S. L.; Fletez-Brant, K.; Fontanillas, P.; Furlotte, N. A.; Gandhi, P. M.; Heilbron, K.; Hicks, B.; Hinds, D. A.; Huber, K. E.; Jewett, E. M.; Jiang, Y.; Kleinman, A.; Lin, K. -H.; Litterman, N. K.; Luff, M. K.; Mccreight, J. C.; Mcintyre, M. H.; Mcmanus, K. F.; Mountain, J. L.; Mozaffari, S. V.; Nandakumar, P.; Noblin, E. S.; Northover, C. A. M.; O'Connell, J.; Petrakovitz, A. A.; Pitts, S. J.; Poznik, G. D.; Sathirapongsasuti, J. F.; Shastri, A. J.; Shelton, J. F.; Tian, C.; Tung, J. Y.; Tunney, R. J.; Vacic, V.; Wang, X.; Zare, A. S.; Voda, A. -I.; Kashyap, P.; Chang, L.; Mayer, E.; Heitkemper, M.; Sayuk, G. S.; Ringel-Kulka, T.; Ringel, Y.; Chey, W. D.; Eswaran, S.; Merchant, J. L.; Shulman, R. J.; Bujanda, L.; Garcia-Etxebarria, K.; Dlugosz, A.; Lindberg, G.; Schmidt, P. T.; Karling, P.; Ohlsson, B.; Walter, S.; Faresjo, A. O.; Simren, M.; Halfvarson, J.; Portincasa, P.; Barbara, G.; Usai-Satta, P.; Neri, M.; Nardone, G.; Cuomo, R.; Galeazzi, F.; Bellini, M.; Latiano, A.; Houghton, L.; Jonkers, D.; Kurilshikov, A.; Weersma, R. K.; Netea, M.; Tesarz, J.; Gauss, A.; Goebel-Stengel, M.; Andresen, V.; Frieling, T.; Pehl, C.; Schaefert, R.; Niesler, B.; Lieb, W.; Hanevik, K.; Langeland, N.; Wensaas, K. -A.; Litleskare, S.; Gabrielsen, M. E.; Thomas, L.; Thijs, V.; Lemmens, R.; Van Oudenhove, L.; Wouters, M.; Farrugia, G.; Franke, A.; Hubenthal, M.; Abecasis, G.; Zawistowski, M.; Skogholt, A. H.; Ness-Jensen, E.; Hveem, K.; Esko, T.; Teder-Laving, M.; Zhernakova, A.; Camilleri, M.; Boeckxstaens, G.; Whorwell, P. J.; Spiller, R.; Mcvean, G.; D'Amato, M.; Jostins, L.; Parkes, M. | |
| Genome-wide maps of recombination and chromosome segregation in human oocytes and embryos show selection for maternal recombination rates | 2015 | Ottolini, Christian S; Newnham, Louise; Capalbo, Antonio; Natesan, Senthilkumar A; Joshi, Hrishikesh A; Cimadomo, Danilo; Griffin, Darren K; Sage, Karen; Summers, Michael C; Thornhill, Alan R; Housworth, Elizabeth; Herbert, Alex D; Rienzi, Laura; Ubaldi, Filippo M; Handyside, Alan H; Hoffmann, Eva R | |
| Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin | 2008 | Hennies, Hc; Kornak, U; Zhang, H; Egerer, J; Zhang, X; Seifert, W; Kühnisch, J; Budde, B; Nätebus, M; Brancati, Francesco; Wilcox, Wr; Müller, D; Kaplan, Pb; Rajab, A; Zampino, G; Fodale, V; Dallapiccola, B; Newman, W; Metcalfe, K; CLAYTON SMITH, J; Tassabehji, M; Steinmann, B; Barr, Fa; Nürnberg, P; Wieacker, P; Mundlos, S. | |
| The Hippo effector YAP promotes resistance to RAF- and MEK-targeted cancer therapies | 2015 | Lin, Luping; Sabnis, Amit J; Chan, Elton; Olivas, Victor; Cade, Lindsay; Pazarentzos, Evangelos; Asthana, Saurabh; Neel, Dana; Yan, Jenny Jiacheng; Lu, Xinyuan; Pham, Luu; Wang, Mingxue M; Karachaliou, Niki; Cao, Maria Gonzalez; Manzano, Jose Luis; Ramirez, Jose Luis; Torres, Jose Miguel Sanchez; Buttitta, Fiamma; Rudin, Charles M; Collisson, Eric A; Algazi, Alain; Robinson, Eric; Osman, Iman; Muñoz-Couselo, Eva; Cortes, Javier; Frederick, Dennie T; Cooper, Zachary A; Mcmahon, Martin; Marchetti, Antonio; Rosell, Rafael; Flaherty, Keith T; Wargo, Jennifer A; Bivona, Trever G | |
| 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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