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UFM1 founder mutation in the Roma population causes severe variant of Hypomyelination with Atrophy of the Basal ganglia and Cerebellum (H-ABC)

Autor: Hamilton, E. M., Bertini, E., Kalaydjieva, L., Morar, B., Dojcakova, D., Diodato, D., Wolf, N., Waisfisz, Q., Abbink, E., van der Knaap, M. S.

Publikováno v: European Journal of Neurology, 25, 31-32. Wiley-Blackwell
Hamilton, E M, Bertini, E, Kalaydjieva, L, Morar, B, Dojcakova, D, Diodato, D, Wolf, N, Waisfisz, Q, Abbink, E & van der Knaap, M S 2018, ' UFM1 founder mutation in the Roma population causes severe variant of Hypomyelination with Atrophy of the Basal ganglia and Cerebellum (H-ABC) ', European Journal of Neurology, vol. 25, pp. 31-32 .

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::1ebcd1e25bae4b042acfbc00dd2f6220
https://research.vumc.nl/en/publications/287eb9c5-23d2-4f44-84ef-d0cc93c09501

Associations between psychosis endophenotypes across brain functional, structural, and cognitive domains

Autor: Blakey R., Ranlund S., Zartaloudi E., Cahn W., Calafato S., Colizzi M., Crespo-Facorro B., Daniel C., Díez-Revuelta Á., Di Forti M., Group, Iyegbe C., Jablensky A., Jones R., Hall M.-H., Kahn R., Kalaydjieva L., Kravariti E., Lin K., McDonald C., McIntosh A.M., Peic, Picchioni M., Powell J., Presman A., Rujescu D., Schulze K., Shaikh M., Thygesen J.H., Toulopoulou T., Van Haren N., Van Os J., Walshe M., Wtccc2, Murray R.M., Bramon E.

Publikováno v: Psychological Medicine
Psychological Medicine, 48(8), 1325-1340. Cambridge University Press

BackgroundA range of endophenotypes characterise psychosis, however there has been limited work understanding if and how they are inter-related.MethodsThis multi-centre study includes 8754 participants: 2212 people with a psychotic disorder, 1487 una

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1505b3f8a116edb32c8f2c446e78e82f
https://hdl.handle.net/11693/49969

Partitioning heritability of regulatory and cell-type-specific variants across 11 common diseases

Autor: Gusev, A, Lee, Sh, SWE SCZ, Consortium, O'Dushlaine, Cgusev, Trynka, G, Finucane, H, Vilhjálmsson, Bj, Xu, H, Zang, C, Ripke, S, Bulik Sullivan, B, Stahl, E, Schizophrenia, Working, Neale, Bm, Corvin, A, Walters, Jt, Farh, Kh, Holmans, Pa, Lee, P, Collier, Da, Huang, H, Pers, Th, Agartz, I, Agerbo, E, Albus, M, Alexander, M, Amin, F, Bacanu, Sa, Begemann, M, Belliveau, Ra, Bene, J, Bergen, Se, Bevilacqua, E, Bigdeli, Tb, Black, Dw, Børglum, Ad, Bruggeman, R, Buccola, Ng, Buckner, Rl, Byerley, W, Cahn, W, Cai, G, Campion, D, Cantor, Rm, Carr, Vj, Carrera, N, Catts, Sv, Chambert, Kd, Chan, Rc, Chen, Ry, Chen, Ey, Cheng, W, Cheung, Ef, Chong, Sa, Cloninger, Cr, Cohen, D, Cohen, N, Cormican, P, Craddock, N, Crowley, Jj, Curtis, D, Davidson, M, Davis, Kl, Degenhardt, F, Del, Favero, Delisi, Le, Demontis, D, Dikeos, D, Dinan, T, Djurovic, S, Donohoe, G, Drapeau, E, Duan, J, Dudbridge, F, Durmishi, N, Eichhammer, P, Eriksson, J, Escott Price, V, Essioux, L, Fanous, Ah, Farrell, Ms, Frank, J, Franke, L, Freedman, R, Freimer, Nb, Friedl, M, Friedman, Ji, Fromer, M, Genovese, G, Georgieva, L, Gershon, Es, Giegling, I, Giusti Rodrguez, P, Godard, S, Goldstein, Ji, Golimbet, V, Gopal, S, Gratten, J, Grove, J, Haan, De, Hammer, C, Hamshere, Ml, Hansen, M, Hansen, T, Haroutunian, V, Hartmann, Am, Henskens, Fa, Herms, S, Hirschhorn, Jn, Hoffmann, P, Hofman, A, Hollegaard, Mv, Hougaard, Dm, Ikeda, M, Joa, I, Julià, A, Kahn, Rs, Kalaydjieva, L, Karachanak Yankova, S, Karjalainen, J, Kavanagh, D, Keller, Mc, Kelly, Bj, Kennedy, Jl, Khrunin, A, Kim, Y, Klovins, J, Knowles, Ja, Konte, B, Kucinskas, V, Kucinskiene, Za, Kuzelova Ptackova, H, Kähler, Ak, Laurent, C, Keong, Jl, Legge, Se, Lerer, B, Li, M, Li, T, Liang, Ky, Lieberman, J, Limborska, S, Loughland, Cm, Lubinski, J, Lnnqvist, J, Macek, M, Magnusson, Pk, Maher, Bs, Maier, W, Mallet, J, Marsal, S, Mattheisen, M, Mattingsdal, M, Mccarley, Rw, Mcdonald, C, Mcintosh, Am, Meier, S, Meijer, Cj, Melegh, B, Melle, I, Mesholam Gately, Ri, Metspalu, A, Michie, Pt, Milani, L, Milanova, V, Mokrab, Y, Morris, Dw, Mors, O, Mortensen, Pb, Murphy, Kc, Murray, Rm, Myin Germeys, I, Mller Myhsok, B, Nelis, M, Nenadic, I, Nertney, Da, Nestadt, G, Nicodemus, Kk, Nikitina Zake, L, Nisenbaum, L, Nordin, A, O'Callaghan, E, O'Dushlaine, C, O'Neill, Fa, Sy, Oh, Olincy, A, Olsen, L, Van, Os, Pantelis, C, Papadimitriou, Gn, Papiol, S, Parkhomenko, E, Pato, Mt, Paunio, T, Pejovic Milovancevic, M, Perkins, Do, Pietilinen, O, Pimm, J, Pocklington, Aj, Powell, J, Price, A, Pulver, Ae, Purcell, Sm, Quested, D, Rasmussen, Hb, Reichenberg, A, Reimers, Ma, Richards, Al, Roffman, Jl, Roussos, P, Ruderfer, Dm, Salomaa, V, Sanders, Ar, Schall, U, Schubert, Cr, Schulze, Tg, Schwab, Sg, Scolnick, Em, Scott, Rj, Seidman, Lj, Shi, J, Sigurdsson, E, Silagadze, T, Silverman, Jm, Sim, K, Slominsky, P, Smoller, Jw, Hc, So, Spencer, Cc, Stahl, Ea, Stefansson, H, Steinberg, S, Stogmann, E, Straub, Re, Strengman, E, Strohmaier, J, Stroup, Ts, Subramaniam, M, Suvisaari, J, Svrakic, Dm, Szatkiewicz, Jp, Sderman, E, Thirumalai, S, Toncheva, D, Tooney, Pa, Tosato, Sarah, Veijola, J, Waddington, J, Walsh, D, Wang, D, Wang, Q, Webb, Bt, Weiser, M, Wildenauer, Db, Williams, Nm, Williams, S, Witt, Sh, Wolen, Ar, Wong, Eh, Wormley, Bk, Jq, Wu, Hs, Xi, Zai, Cc, Zheng, X, Zimprich, F, Wray, Nr, Stefansson, K, Visscher, Pm, Adolfsson, R, Andreassen, Oa, Blackwood, Dh, Bramon, E, Buxbaum, Jd, Brglum, Ad, Cichon, S, Darvasi, A, Domenici, E, Ehrenreich, H, Esko, T, Gejman, Pv, Gill, M, Gurling, H, Hultman, Cm, Iwata, N, Jablensky, Av, Jönsson, Eg, Kendler, Ks, Kirov, G, Knight, J, Lencz, T, Levinson, Df, Qs, Li, Liu, J, Malhotra, Ak, Mccarroll, Sa, Mcquillin, A, Moran, Jl, Mowry, Bj, Nthen, Mm, Ophoff, Ra, Owen, Mj, Palotie, A, Pato, Cn, Petryshen, Tl, Posthuma, D, Rietschel, M, Riley, Bp, Rujescu, D, Sham, Pc, Sklar, P, Clair, St, Weinberger, Dr, Wendland, Jr, Werge, T, Daly, Mj, Sullivan, Pf, O'Donovan, Mc, Chambert, K, Akterin, S, Bergen, S, Ruderfer, D, Scolnick, E, Purcell, S, Mccarroll, S, Daly, M, Pasaniuc, B, Raychaudhuri, S, Price, Al

Publikováno v: American journal of human genetics, 95(5), 535-552. Cell Press
American Journal of Human Genetics, 95(5), 535-52. Cell Press
Gusev, A, Lee, S H, Trynka, G, Finucane, H, Vilhjálmsson, B J, Xu, H, Zang, C, Ripke, S, Bulik-Sullivan, B, Stahl, E, Kähler, A K, Hultman, C M, Purcell, S M, McCarroll, S A, Daly, M, Pasaniuc, B, Sullivan, P F, Neale, B M, Wray, N R, Raychaudhuri, S, Price, A L & Schizophrenia Working Group of the Psychiatric Genomics Consortium (Manuel Mattheisen and Jakob Grove, members) 2014, ' Partitioning Heritability of Regulatory and Cell-Type-Specific Variants across 11 Common Diseases ', American Journal of Human Genetics, vol. 95, no. 5, pp. 535-52 . https://doi.org/10.1016/j.ajhg.2014.10.004
Gusev, A, Lee, S H, Trynka, G, Finucane, H, Vilhjálmsson, B J, Xu, H, Zang, Z, Ripke, S, Bulik-Sullivan, B K, Stahl, E, Kähler, A K, Hultman, C M, Purcell, S M, McCarroll, S A, Daly, M, Pasaniuc, B, Sullivan, P F, Neale, B M, Wray, N R, Raychaudhuri, S & Price, A L 2014, ' Partitioning heritability of regulatory and cell-type-specific variants across 11 common diseases. ', American Journal of Human Genetics, vol. 95, no. 5, pp. 535-552 . https://doi.org/10.1016/j.ajhg.2014.10.004
The American Journal of Human Genetics
ResearcherID
American Journal of Human Genetics, 95(5), 535-552. Cell Press

Regulatory and coding variants are known to be enriched with associations identified by genome-wide association studies (GWASs) of complex disease, but their contributions to trait heritability are currently unknown. We applied variance-component met

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e29bdf4204020af869d2d95c2fb75871
https://cris.maastrichtuniversity.nl/en/publications/75c3ad86-f8fe-4e39-8084-1e7684a19e86

Further Evidence of Cystic Fibrosis Heterogeneity in Southern Europe

Autor: Kalaydjieva, L., Plageras, P., Horst, J.

Publikováno v: Human Heredity, 1991 Jan 01. 41(1), 65-67.

Externí odkaz: https://www.jstor.org/stable/45102649