Zobrazeno 1 - 10
of 44
pro vyhledávání: '"Dizdarer, G."'
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f28b2c1214290af446602634cc925bb7
https://doi.org/10.1111/epi.12078
https://doi.org/10.1111/epi.12078
Publikováno v:
Scopus-Elsevier
ResearcherID
ResearcherID
We describe the clinical features of Robinow syndrome in the children of four Turkish couples. All the patients had cardinal features of this condition, such as short stature, frontal bossing, hypertelorism, short upturned nose with anteverted nares,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::485b2953655a65a004271751bb328c79
https://doi.org/10.1111/j.1399-0004.1997.tb02552.x
https://doi.org/10.1111/j.1399-0004.1997.tb02552.x
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.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______3730::d69e96eecbd84898c88329182e75b03c
http://hdl.handle.net/11588/722578
http://hdl.handle.net/11588/722578
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e8d0be9096c311acc412ed337b76d9e6
https://hdl.handle.net/1959.8/125338
https://hdl.handle.net/1959.8/125338
Autor:
Dibbens, Lm, Mullen, S, Helbig, I, Mefford, Hc, Bayly, Ma, Bellows, S, Leu, C, Trucks, H, Obermeier, T, Wittig, M, Franke, A, Caglayan, H, Yapici, Z, Sander, T, Eichler, Ee, Scheffer, Ie, Mulley, Jc, Berkovic, Sf, De Jonghe, P, Suls, A, Hjalgrim, H, Madsen, Jm, Møller, Rs, Lehesjoki, Ae, Siren, A, Gaus, V, Janz, D, Schmitz, B, Elger, Ce, Hallmann, K, Kleefuß-Lie, Aa, Kunz, Ws, Raabe, A, Muhle, H, Ostertag, P, von Spiczak, S, Stephani, U, Lerche, H, Weber, Yg, Striano, P, Zara, F, Marini, C, Brilstra, Eh, Kastelijn-Nolst, Trenité, Koeleman, D, Bpc, de Kovel, Cgf, Lindhout, D, Swinkels, Mem, Yalcin, O, Baykan, B, Turkdogan, D, Dizdarer, G, Ozkara, C, Lee, Y, Müller-Quernheim, J, Fölster-Holst, R, Hofmann, S, Nebel, A., Schreiber, S, Schürmann, M, Rodriguez, E, Weidinger, S, Baurecht, H, Lie, Ba, Boberg, Km, Karlsen, Th.
Publikováno v:
Human molecular genetics
Dibbens, L M, Mullen, S, Helbig, I, Mefford, H C, Bayly, M A, Bellows, S, Leu, C, Trucks, H, Obermeier, T, Wittig, M, Franke, A, Caglayan, H, Yapici, Z, EPICURE Consortium, Sander, T, Eichler, E E, Scheffer, I E, Mulley, J C, Berkovic, S F & Møller, R S 2009, ' Familial and sporadic 15q13.3 microdeletions in idiopathic generalized epilepsy : precedent for disorders with complex inheritance ', Human Molecular Genetics, vol. 18, no. 19, pp. 3626-31 . https://doi.org/10.1093/hmg/ddp311
Dibbens, L M, Mullen, S, Helbig, I, Mefford, H C, Bayly, M A, Bellows, S, Leu, C, Trucks, H, Obermeier, T, Wittig, M, Franke, A, Caglayan, H, Yapici, Z, EPICURE Consortium, Sander, T, Eichler, E E, Scheffer, I E, Mulley, J C, Berkovic, S F & Møller, R S 2009, ' Familial and sporadic 15q13.3 microdeletions in idiopathic generalized epilepsy : precedent for disorders with complex inheritance ', Human Molecular Genetics, vol. 18, no. 19, pp. 3626-31 . https://doi.org/10.1093/hmg/ddp311
Microdeletion at chromosomal position 15q13.3 has been described in intellectual disability, autism spectrum disorders, schizophrenia and recently in idiopathic generalized epilepsy (IGE). Using independent IGE cohorts, we first aimed to confirm the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0cb5ead900b636337d02d9ce1deb538d
https://hdl.handle.net/10067/818860151162165141
https://hdl.handle.net/10067/818860151162165141
Autor:
Ülgenalp A., Giray Ö., Bora E., Hizli T., Kurul S., Sagin-Saylam G., Karasoy H., Uran N., Dizdarer G., Tütüncüoglu S., Dirik E., Özkınay F., Erçal D.
PubMed ID: 15641267
We carried out molecular deletion analysis on 142 patients with Duchenne/Becker muscular dystrophy which covered 25 exons of the dystrophin gene. We also evaluated the results by comparing with the clinical findings and examp
We carried out molecular deletion analysis on 142 patients with Duchenne/Becker muscular dystrophy which covered 25 exons of the dystrophin gene. We also evaluated the results by comparing with the clinical findings and examp
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::bb0c9c5a818f7dede01f9218d3572422
https://avesis.deu.edu.tr/publication/details/9558fffa-6cc8-4831-973e-6cb5ca161c10/oai
https://avesis.deu.edu.tr/publication/details/9558fffa-6cc8-4831-973e-6cb5ca161c10/oai
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