Zobrazeno 1 - 10
of 14
pro vyhledávání: '"Kaneva, R."'
Autor:
Justice, CM, Musolf, AM, Cuellar, A, Lattanzi, W, Simeonov, E, Kaneva, R, Paschall, J, Cunningham, M, Wilkie, AOM, Wilson, AF, Romitti, PA, Boyadjiev, SA
Publikováno v:
Genes; Volume 13; Issue 5; Pages: 816
Craniosynostosis (CS) is a major birth defect in which one or more skull sutures fuse prematurely. We previously performed a genome-wide association study (GWAS) for sagittal non-syndromic CS (sNCS), identifying associations downstream from BMP2 on 2
Akademický článek
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Autor:
Zuber, V., Bettella, F., Witoelar, A.W., Andreassen, O.A., Mills, I.G., Urbanucci, A., Eeles, R.A., Easton, D.F., Kote-Jarai, Z., Al Olama, A.A., Benlloch, S., Muir, K., Giles, G.G., Wiklund, F., Grönberg, H., Haiman, C.A., Schleutker, J., Weischer, M., Travis, R.C., Neal, D., Pharoah, P., Khaw, K.T., Stanford, J.L., Blot, W.J., Thibodeau, S.N., Maier, C., Kibel, A.S., Cybulski, C., Cannon-Albright, L., Brenner, H., Park, J., Kaneva, R., Batra, J., Teixeira, M.R., Pandha, H., Chenevix-Trench, G., Humphreys, M.K., Hung, R.J., Han, Y., Brennan, P., Bickeböller, H., Rosenberger, A., Houlston, R.S., Caporaso, N., Landi, M.T., Heinrich, J., Risch, A., Wu, X., Ye, Y., Christiani, D.C., Amos, C.I., Michailidou, K., Bolla, M.K., Wang, Q., Berchuck, A., Antoniou, A.C., McGuffog, L., Couch, F.J., Offit, K., Dennis, J., Dunning, A.M., Lee, A., Dicks, E., Luccarini, C., Benítez, J., González-Neira, A., Simard, J., Tessier, D.C., Bacot, F., Vincent, D., Laboissiere, S.
Publikováno v:
Zuber, V, Bettella, F, Witoelar, A, Andreassen, O A, Mills, I G, Urbanucci, A & PRACTICAL Consortium 2017, ' Bromodomain protein 4 discriminates tissue-specific super-enhancers containing disease-specific susceptibility loci in prostate and breast cancer ', BMC Genomics, vol. 18, no. 1, pp. 270 . https://doi.org/10.1186/s12864-017-3620-y
BMC Genomics 18:270 (2017)
BMC Genomics
BMC Genomics 18:270 (2017)
BMC Genomics
Background Epigenetic information can be used to identify clinically relevant genomic variants single nucleotide polymorphisms (SNPs) of functional importance in cancer development. Super-enhancers are cell-specific DNA elements, acting to determine
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::133f15c80a2e8e02e0caa94528d115e8
https://doi.org/10.1186/s12864-017-3620-y
https://doi.org/10.1186/s12864-017-3620-y
Autor:
Møller, R.S., Weber, Y.G., Klitten, L.L., Trucks, H., Muhle, H., Kunz, W.S., Mefford, H.C., Franke, A., Kautza, M., Wolf, P., Dennig, D., Schreiber, S., Rückert, I.M., Wichmann, H.E., Ernst, J.P., Schurmann, C., Grabe, H.J., Tommerup, N., Stephani, U., Lerche, H., Hjalgrim, H., Helbig, I., Sander, T., Zimprich, F., Mörzinger, M., Feucht, M., Suls, A., Weckhuysen, S., Claes, L., Deprez, L., Smets, K., Van Dyck, T., Deconinck, T., De Jonghe, P., Velizarova, R., Dimova, P., Radionova, M., Tournev, I., Kancheva, D., Kaneva, R., Jordanova, A., Kjelgaard, D.B., Lehesjoki, A.E., Siren, A., Baulac, S., Leguern, E., Von Spiczak, S., Ostertag, P., Leber, M., Leu, C., Toliat, M.R., Nürnberg, P., Hempelmann, A., Rüschendorf, F., Elger, C.E., Kleefuß Lie, A.A., Surges, R., Gaus, V., Janz, D., Schmitz, B., Klein, K.M., Reif, P.S., Oertel, W.H., Hamer, H.M., Rosenow, F., Becker, F., Marini, C., Guerrini, R., Mei, D., Norci, V., Zara, F., Striano, P., Robbiano, A., Pezzella, M., Bianchi, A., Gambardella, A., Tinuper, P., La Neve, A., Capovilla, G., Vigliano, P., Crichiutti, G., Vanadia, F., Vignoli, A., Coppola, A., Striano, S., Giallonardo, M.T., Franceschetti, S., Belcastro, V., Benna, P., Coppola, G., De Palo, A., Ferlazzo, E., Vecchi, M., Martinelli, V., Bisulli, F., Beccaria, F., Del Giudice, E., Mancardi, M., Stranci, G., Scabar, A., Gobbi, G., Giordano, I., Koeleman, B.P.C., De Kovel, C., Lindhout, D., De Haan, G.J., Ozbeck, U., Bebek, N., Baykan, B., Ozdemir, O., Ugur, S., Kocasoy Orhan, E., Yücesan, E., Cine, N., Gokyigit, A., Gurses, C., Gul, G., Yapici, Z., Ozkara, C., Caglayan, H., Yalcin, O., Yalcin, D., Turkdogan, D., Dizdarer, G., Agan, K.
Publikováno v:
Epilepsia
Møller, R S, YG, W, Klitten, L L, H, T, H, M, WS, K, HC, M, A, F, M, K, P, W, D, D, S, S, IM, R, HE, W, JP, E, C, S, HJ, G, N, T, U, S, H, L, Hjalgrim, H, I, H & T, S 2013, ' Exon-disrupting deletions of NRXN1 in idiopathic generalized epilepsy ', Epilepsia, vol. 54, no. 2, pp. 256-264 . https://doi.org/10.1111/epi.12078
Epilepsia 54, 256-264 (2013)
Møller, R S, YG, W, Klitten, L L, H, T, H, M, WS, K, HC, M, A, F, M, K, P, W, D, D, S, S, IM, R, HE, W, JP, E, C, S, HJ, G, N, T, U, S, H, L, Hjalgrim, H, I, H & T, S 2013, ' Exon-disrupting deletions of NRXN1 in idiopathic generalized epilepsy ', Epilepsia, vol. 54, no. 2, pp. 256-264 . https://doi.org/10.1111/epi.12078
Epilepsia 54, 256-264 (2013)
Summary Purpose Neurexins are neuronal adhesion molecules located in the presynaptic terminal, where they interact with postsynaptic neuroligins to form a transsynaptic complex required for efficient neurotransmission in the brain. Recently, deletion
Autor:
Gusev, A, Shi, H, Kichaev, G, Pomerantz, M, Li, F, Long, HW, Ingles, SA, Kittles, RA, Strom, SS, Rybicki, BA, Nemesure, B, Isaacs, WB, Zheng, W, Pettaway, CA, Yeboah, ED, Tettey, Y, Biritwum, RB, Adjei, AA, Tay, E, Truelove, A, Niwa, S, Chokkalingam, AP, John, EM, Murphy, AB, Signorello, LB, Carpten, J, Leske, MC, Wu, S-Y, Hennis, AJM, Neslund-Dudas, C, Hsing, AW, Chu, L, Goodman, PJ, Klein, EA, Witte, JS, Casey, G, Kaggwa, S, Cook, MB, Stram, DO, Blot, WJ, Eeles, RA, Easton, D, Kote-Jarai, Z, Al Olama, AA, Benlloch, S, Muir, K, Giles, GG, Southey, MC, Fitzgerald, LM, Gronberg, H, Wiklund, F, Aly, M, Henderson, BE, Schleutker, J, Wahlfors, T, Tammela, TLJ, Nordestgaard, BG, Key, TJ, Travis, RC, Neal, DE, Donovan, JL, Hamdy, FC, Pharoah, P, Pashayan, N, Khaw, K-T, Stanford, JL, Thibodeau, SN, McDonnell, SK, Schaid, DJ, Maier, C, Vogel, W, Luedeke, M, Herkommer, K, Kibel, AS, Cybulski, C, Wokolorczyk, D, Kluzniak, W, Cannon-Albright, L, Teerlink, C, Brenner, H, Dieffenbach, AK, Arndt, V, Park, JY, Sellers, TA, Lin, H-Y, Slavov, C, Kaneva, R, Mitev, V, Batra, J, Spurdle, A, Clements, JA, Teixeira, MR, Pandha, HS, Michael, A, Paulo, P, Maia, S, Kierzek, A, Conti, DV, Albanes, D, Berg, C, Berndt, SI, Campa, D, Crawford, ED, Diver, WR, Gapstur, SM, Gaziano, JM, Giovannucci, E, Hoover, R, Hunter, DJ, Johansson, M, Kraft, P, Le Marchand, L, Lindstrom, S, Navarro, C, Overvad, K, Riboli, E, Siddiq, A, Stevens, VL, Trichopoulos, D, Vineis, P, Yeager, M, Trynka, G, Raychaudhuri, S, Schumacher, FR, Price, AL, Freedman, ML, Haiman, CA, Pasaniuc, B, Cook, M, Guy, M, Govindasami, K, Leongamornlert, D, Sawyer, EJ, Wilkinson, R, Saunders, EJ, Tymrakiewicz, M, Dadaev, T, Morgan, A, Fischer, C, Hazel, S, Livni, N, Lophatananon, A, Pedersen, J, Hopper, JL, Adolfson, J, Stattin, P, Johansson, J-E, Cavalli-Bjoerkman, C, Karlsson, A, Broms, M, Auvinen, A, Kujala, P, Maeaettaenen, L, Murtola, T, Taari, K, Weischer, M, Nielsen, SF, Klarskov, P, Roder, A, Iversen, P, Wallinder, H, Tillmans, L, Riska, S, Wang, L, Rinckleb, A, Lubiski, J, Stegmaier, C, Pow-Sang, J, Park, H, Radlein, S, Rincon, M, Haley, J, Zachariah, B, Kachakova, D, Popov, E, Mitkova, A, Vlahova, A, Dikov, T, Christova, S, Heathcote, P, Wood, G, Malone, G, Saunders, K, Eckert, A, Yeadon, T, Kerr, K, Collins, A, Turner, M, Srinivasan, S, Kedda, M-A, Alexander, K, Omara, T, Wu, H, Henrique, R, Pinto, P, Santos, J, Barros-Silva, J
Publikováno v:
Gusev, A, Shi, H, Kichaev, G, Pomerantz, M, Li, F, Long, H W, Ingles, S A, Kittles, R A, Strom, S S, Rybicki, B A, Nemesure, B, Isaacs, W B, Zheng, W, Pettaway, C A, Yeboah, E D, Tettey, Y, Biritwum, R B, Adjei, A A, Tay, E, Truelove, A, Niwa, S, Chokkalingam, A P, John, E M, Murphy, A B, Signorello, L B, Carpten, J, Leske, M C, Wu, S-Y, Hennis, A J M, Neslund-Dudas, C, Hsing, A W, Chu, L, Goodman, P J, Klein, E A, Witte, J S, Casey, G, Kaggwa, S, Cook, M B, Stram, D O, Blot, W J, Eeles, R A, Easton, D, Kote-Jarai, ZS, Al Olama, A A, Benlloch, S, Muir, K, Giles, G G, Southey, M C, Fitzgerald, L M, Overvad, K & PRACTICAL consortium 2016, ' Atlas of prostate cancer heritability in European and African-American men pinpoints tissue-specific regulation ', Nature Communications, vol. 7, pp. 10979 . https://doi.org/10.1038/ncomms10979
Nature Communications
Nature Communications, Vol 7, Iss 1, Pp 1-13 (2016)
Gusev, A, Shi, H, Kichaev, G, Pomerantz, M, Li, F, Long, H W, Ingles, S A, Kittles, R A, Strom, S S, Rybicki, B A, Nemesure, B, Isaacs, W B, Zheng, W, Pettaway, C A, Yeboah, E D, Tettey, Y, Biritwum, R B, Adjei, A A, Tay, E, Truelove, A, Niwa, S, Chokkalingam, A P, John, E M, Murphy, A B, Signorello, L B, Carpten, J, Leske, M C, Wu, S-Y, Hennis, A J M, Neslund-Dudas, C, Hsing, A W, Chu, L, Goodman, P J, Klein, E A, Witte, J S, Casey, G, Kaggwa, S, Cook, M B, Stram, D O, Blot, W J, Eeles, R A, Easton, D, Kote-Jarai, ZS, Al Olama, A A, Benlloch, S, Muir, K, Giles, G G, Southey, M C, Fitzgerald, L M, Raychaudhuri, S & PRACTICAL Consortium 2016, ' Atlas of prostate cancer heritability in European and African-American men pinpoints tissue-specific regulation ', Nature Communications, vol. 7, 10979 . https://doi.org/10.1038/ncomms10979
Gusev, A, Shi, H, Kichaev, G, Pomerantz, M, Li, F, Long, H W, Ingles, S A, Kittles, R A, Strom, S S, Rybicki, B A, Nemesure, B, Isaacs, W B, Zheng, W, Pettaway, C A, Yeboah, E D, Tettey, Y, Biritwum, R B, Adjei, A A, Tay, E, Truelove, A, Niwa, S, Chokkalingam, A P, John, E M, Murphy, A B, Signorello, L B, Carpten, J, Leske, M C, Wu, S Y, Hennis, A J M, Neslund-Dudas, C, Hsing, A W, Chu, L, Goodman, P J, Klein, E A, Witte, J S, Casey, G, Kaggwa, S, Cook, M B, Stram, D O, Blot, W J, Eeles, R A, Easton, D, Kote-Jarai, Z, Al Olama, A A, Benlloch, S, Muir, K, Giles, G G, Southey, M C, Fitzgerald, L M, Gronberg, H, Wiklund, F, Aly, M, Henderson, B E, Schleutker, J, Wahlfors, T, Tammela, T L J, Nordestgaard, B G, Key, T J, Travis, R C, Neal, D E, Donovan, J L, Hamdy, F C, Pharoah, P, Pashayan, N, Khaw, K T, Stanford, J L, Thibodeau, S N, McDonnell, S K, Schaid, D J, Maier, C, Vogel, W, Luedeke, M, Herkommer, K, Kibel, A S, Cybulski, C, Wokolorczyk, D, Kluzniak, W, Cannon-Albright, L, Teerlink, C, Brenner, H, Dieffenbach, A K, Arndt, V, Park, J Y, Sellers, T A, Lin, H Y, Slavov, C, Kaneva, R, Mitev, V, Batra, J, Spurdle, A, Clements, J A, Teixeira, M R, Pandha, H, Michael, A, Paulo, P, Maia, S, Kierzek, A, Conti, D V, Albanes, D, Berg, C, Berndt, S I, Campa, D, Crawford, E D, Diver, W R, Gapstur, S M, Gaziano, J M, Giovannucci, E, Hoover, R, Hunter, D J, Johansson, M, Kraft, P, Le Marchand, L, Lindström, S, Navarro, C, Overvad, K, Riboli, E, Siddiq, A, Stevens, V L, Trichopoulos, D, Vineis, P, Yeager, M, Trynka, G, Raychaudhuri, S, Schumacher, F R, Price, A L, Freedman, M L, Haiman, C A & Pasaniuc, B 2016, ' Atlas of prostate cancer heritability in European and African-American men pinpoints tissue-specific regulation ', Nature Communications, vol. 7, 10979 . https://doi.org/10.1038/ncomms10979
Nature Communications
Nature Communications, Vol 7, Iss 1, Pp 1-13 (2016)
Gusev, A, Shi, H, Kichaev, G, Pomerantz, M, Li, F, Long, H W, Ingles, S A, Kittles, R A, Strom, S S, Rybicki, B A, Nemesure, B, Isaacs, W B, Zheng, W, Pettaway, C A, Yeboah, E D, Tettey, Y, Biritwum, R B, Adjei, A A, Tay, E, Truelove, A, Niwa, S, Chokkalingam, A P, John, E M, Murphy, A B, Signorello, L B, Carpten, J, Leske, M C, Wu, S-Y, Hennis, A J M, Neslund-Dudas, C, Hsing, A W, Chu, L, Goodman, P J, Klein, E A, Witte, J S, Casey, G, Kaggwa, S, Cook, M B, Stram, D O, Blot, W J, Eeles, R A, Easton, D, Kote-Jarai, ZS, Al Olama, A A, Benlloch, S, Muir, K, Giles, G G, Southey, M C, Fitzgerald, L M, Raychaudhuri, S & PRACTICAL Consortium 2016, ' Atlas of prostate cancer heritability in European and African-American men pinpoints tissue-specific regulation ', Nature Communications, vol. 7, 10979 . https://doi.org/10.1038/ncomms10979
Gusev, A, Shi, H, Kichaev, G, Pomerantz, M, Li, F, Long, H W, Ingles, S A, Kittles, R A, Strom, S S, Rybicki, B A, Nemesure, B, Isaacs, W B, Zheng, W, Pettaway, C A, Yeboah, E D, Tettey, Y, Biritwum, R B, Adjei, A A, Tay, E, Truelove, A, Niwa, S, Chokkalingam, A P, John, E M, Murphy, A B, Signorello, L B, Carpten, J, Leske, M C, Wu, S Y, Hennis, A J M, Neslund-Dudas, C, Hsing, A W, Chu, L, Goodman, P J, Klein, E A, Witte, J S, Casey, G, Kaggwa, S, Cook, M B, Stram, D O, Blot, W J, Eeles, R A, Easton, D, Kote-Jarai, Z, Al Olama, A A, Benlloch, S, Muir, K, Giles, G G, Southey, M C, Fitzgerald, L M, Gronberg, H, Wiklund, F, Aly, M, Henderson, B E, Schleutker, J, Wahlfors, T, Tammela, T L J, Nordestgaard, B G, Key, T J, Travis, R C, Neal, D E, Donovan, J L, Hamdy, F C, Pharoah, P, Pashayan, N, Khaw, K T, Stanford, J L, Thibodeau, S N, McDonnell, S K, Schaid, D J, Maier, C, Vogel, W, Luedeke, M, Herkommer, K, Kibel, A S, Cybulski, C, Wokolorczyk, D, Kluzniak, W, Cannon-Albright, L, Teerlink, C, Brenner, H, Dieffenbach, A K, Arndt, V, Park, J Y, Sellers, T A, Lin, H Y, Slavov, C, Kaneva, R, Mitev, V, Batra, J, Spurdle, A, Clements, J A, Teixeira, M R, Pandha, H, Michael, A, Paulo, P, Maia, S, Kierzek, A, Conti, D V, Albanes, D, Berg, C, Berndt, S I, Campa, D, Crawford, E D, Diver, W R, Gapstur, S M, Gaziano, J M, Giovannucci, E, Hoover, R, Hunter, D J, Johansson, M, Kraft, P, Le Marchand, L, Lindström, S, Navarro, C, Overvad, K, Riboli, E, Siddiq, A, Stevens, V L, Trichopoulos, D, Vineis, P, Yeager, M, Trynka, G, Raychaudhuri, S, Schumacher, F R, Price, A L, Freedman, M L, Haiman, C A & Pasaniuc, B 2016, ' Atlas of prostate cancer heritability in European and African-American men pinpoints tissue-specific regulation ', Nature Communications, vol. 7, 10979 . https://doi.org/10.1038/ncomms10979
Although genome-wide association studies have identified over 100 risk loci that explain ∼33% of familial risk for prostate cancer (PrCa), their functional effects on risk remain largely unknown. Here we use genotype data from 59,089 men of Europea
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::83d19c292435b64970087e6ff6ee9690
http://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-122103
http://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-122103
Autor:
Steffens, M., Leu, C., Ruppert, A., Zara, F., Striano, P., Robbiano, A., Capovilla, G., Tinuper, P., Gambardella, A., Bianchi, A., La neve, A., Crichiutti, G., de kovel, C. G., Trenité, D. K. -N., de haan, G., Lindhout, D., Gaus, V., Schmitz, B., Janz, D., Weber, Y. G., Becker, F., Lerche, H., Steinhoff, B. J., Kleefuß-Lie, A. A., Kunz, W. S., Surges, R., Elger, C. E., Muhle, H., Von spiczak, S., Ostertag, P., Helbig, I., Stephani, U., Møller, R. S., Hjalgrim, H., Dibbens, L. M., Bellows, S., Oliver, K., Mullen, S., Scheffer, I. E., Berkovic, S. F., Everett, K. V., Gardiner, M. R., Marini, Chiara, Guerrini, R., Lehesjoki, A., Siren, A., Guipponi, M., Malafosse, A., Thomas, P., Nabbout, R., Baulac, S., Leguern, E., Guerrero, R., Serratosa, J. M., Reif, P. S., Rosenow, F., Mörzinger, M., Feucht, M., Zimprich, F., Kapser, C., Schankin, C. J., Suls, A., Smets, K., De jonghe, P., Jordanova, A., Caglayan, H., Yapici, Z., Yalcin, D. A., Baykan, B., Bebek, N., Ozbek, U., Gieger, C., Wichmann, H., Balschun, T., Ellinghaus, D., Franke, A., Meesters, C., Becker, T., Wienker, T. F., Hempelmann, A., Schulz, H., Rüschendorf, F., Leber, M., Pauck, S. M., Trucks, H., Toliat, M. R., Nürnberg, P., Avanzini, G., Koeleman, B. P., Sander, T., Weckhuysen, S., Claes, L., Deprez, L., Van Dyck, T., Deconinck, T., De Jonghe, P., Velizarova, R., Dimova, P., Radionova, M., Tournev, I., Kancheva, D., Kaneva, R., Lehesjoki, A. -E., von Spiczak, S., Martin Klein, K., Oertel, W. H., Hamer, H. M., Marini, C., Mei, D., Norci, V., Pezzella, M., La Neve, A., Vigliano, P., Vanadia, F., Vignoli, A., Coppola, A., Striano, S., Egeo, G., Teresa Giallonardo, M., Franceschetti, S., Belcastro, V., Benna, P., Coppola, G., De Palo, A., Ferlazzo, E., Vecchi, M., Martinelli, V., Bisulli, F., Beccaria, F., Del Giudice, E., Mancardi, M., Stranci, G., Scabar, A., Gobbi, G., Giordano, I., de Haan, G. -J., Giraldez, B. G., Ozbeck, U., Ozdemir, O., Ugur, S., Kocasoy-Orhan, E., Yücesan, E., Cine, N., Gokyigit, A., Gurses, C., Gul, G., Ozkara, C., Yalcin, O., Turkdogan, D., Dizdarer, G., Agan, K.
Publikováno v:
Hum. Mol. Genet. 21, 5359-5372 (2012)
Human molecular genetics
Human molecular genetics 21(24), 5359-5372 (2012). doi:10.1093/hmg/dds373
Human Molecular Genetics
Steffens, M, Leu, C, Ruppert, A K, Zara, F, Striano, P, Robbiano, A, Capovilla, G, Tinuper, P, Gambardella, A, Bianchi, A, La Neve, A, Crichiutti, G, de Kovel, C G F, Trenite, D K N, de Haan, G J, Lindhout, D, Gaus, V, Schmitz, B, Janz, D, Weber, Y G, Becker, F, Lerche, H, Steinhoff, B J, Kleefuss-Lie, A A, Kunz, W S, Surges, R, Elger, C E, Muhle, H, von Spiczak, S, Ostertag, P, Helbig, I, Stephani, U, Moller, R S, Hjalgrim, H, Dibbens, L M, Bellows, S, Oliver, K, Mullen, S, Scheffer, I E, Berkovic, S F, Everett, K V, Gardiner, M R, Marini, C, Guerrini, R, Lehesjoki, A E, Siren, A K, Guipponi, M, Malafosse, A, Thomas, P, Nabbout, R, Baulac, S, Leguern, E, Guerrero, R, Serratosa, J M, Reif, P S, Rosenow, F, Morzinger, M, Feucht, M, Zimprich, F, Kapser, C, Schankin, C J, Suls, A, Smets, K, De Jonghe, P, Jordanova, A, Caglayan, H, Yapici, Z, Yalcin, D A, Baykan, B, Bebek, N, Ozbek, U, Gieger, C, Wichmann, H E, Balschun, T, Ellinghaus, D, Franke, A, Meesters, C, Becker, T, Wienker, T F, Hempelmann, A, Schulz, H, Ruschendorf, F, Leber, M, Pauck, S M, Trucks, H, Toliat, M R, Nurnberg, P, Avanzini, G, Koeleman, B P C, Sander, T, Consortium, E & Consortium, E 2012, ' Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32 ', Human Molecular Genetics, vol. 21, no. 24, pp. 5359-5372 . https://doi.org/10.1093/hmg/dds373
Human molecular genetics
Human molecular genetics 21(24), 5359-5372 (2012). doi:10.1093/hmg/dds373
Human Molecular Genetics
Steffens, M, Leu, C, Ruppert, A K, Zara, F, Striano, P, Robbiano, A, Capovilla, G, Tinuper, P, Gambardella, A, Bianchi, A, La Neve, A, Crichiutti, G, de Kovel, C G F, Trenite, D K N, de Haan, G J, Lindhout, D, Gaus, V, Schmitz, B, Janz, D, Weber, Y G, Becker, F, Lerche, H, Steinhoff, B J, Kleefuss-Lie, A A, Kunz, W S, Surges, R, Elger, C E, Muhle, H, von Spiczak, S, Ostertag, P, Helbig, I, Stephani, U, Moller, R S, Hjalgrim, H, Dibbens, L M, Bellows, S, Oliver, K, Mullen, S, Scheffer, I E, Berkovic, S F, Everett, K V, Gardiner, M R, Marini, C, Guerrini, R, Lehesjoki, A E, Siren, A K, Guipponi, M, Malafosse, A, Thomas, P, Nabbout, R, Baulac, S, Leguern, E, Guerrero, R, Serratosa, J M, Reif, P S, Rosenow, F, Morzinger, M, Feucht, M, Zimprich, F, Kapser, C, Schankin, C J, Suls, A, Smets, K, De Jonghe, P, Jordanova, A, Caglayan, H, Yapici, Z, Yalcin, D A, Baykan, B, Bebek, N, Ozbek, U, Gieger, C, Wichmann, H E, Balschun, T, Ellinghaus, D, Franke, A, Meesters, C, Becker, T, Wienker, T F, Hempelmann, A, Schulz, H, Ruschendorf, F, Leber, M, Pauck, S M, Trucks, H, Toliat, M R, Nurnberg, P, Avanzini, G, Koeleman, B P C, Sander, T, Consortium, E & Consortium, E 2012, ' Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32 ', Human Molecular Genetics, vol. 21, no. 24, pp. 5359-5372 . https://doi.org/10.1093/hmg/dds373
Genetic generalized epilepsies (GGEs) have a lifetime prevalence of 0.3\% and account for 20-30\% of all epilepsies. Despite their high heritability of 80\%, the genetic factors predisposing to GGEs remain elusive. To identify susceptibility variants
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https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e8d0be9096c311acc412ed337b76d9e6
https://hdl.handle.net/1959.8/125338
https://hdl.handle.net/1959.8/125338
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