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Expression Profile of Circulating miRNAs in Autism Spectrum Disorders

Autor: Rodrigues, A.C., Conceição, I.C., Kwiatkowska, K., Picanço, I., Café, C., Almeida, J., Mouga, S., Enguita, F.J., Oliveira, G., Vicente, A.M.

Autism Spectrum Disorder (ASD) is a common disorder with an heterogeneous clinical presentation and unclear etiology. Rare, highly penetrant, variants explain approximately 20% of ASD genetic liability, while common genetic factors of low effect, whi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______2016::1d40a2f7d203f6f3339d8267fd939a29
https://hdl.handle.net/10400.18/3502

Differential diagnosis of Autism Spectrum Disorder (ASD) by CNV detection – can early diagnosis be improved?

Autor: Kwiatkowska, K., Conceição, I.C., Rodrigues, A.C., Picanço, I., Marques, I., Melo, J., Ferreira, S., Café, C., Almeida, J., Mouga, S., Oliveira, G., Vicente, A.M.

Autism Spectum Disorder (ASD) is an impairment in neurodevelopment that can be recognized in the first years of life. Symptoms are diverse and vary in severity, determining prognosis and influencing the integration in the community. ASD is characteri

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______2016::f7fb6c2875cf9593918f66f73317876e
https://hdl.handle.net/10400.18/2471

Expression Profile of Circulating miRNAs in Autism Spectrum Disorders Population sample

Autor: Conceição, I.C., Rodrigues, A.C., Kwiatkowska, K., Picanço, I., Café, C., Almeida, J., Mouga, S., Enguita, F.J., Oliveira, G., Vicente, A.M.

Autism Spectrum Disorder (ASD) is a common complex disorder, highly heterogeneous and with unclear etiology. While many different rare variants are known to be etiological factors for ASD, they don’t completely explain the genetic variance in this

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______2016::52394ceb8212064865ec40f7551a1b26
https://hdl.handle.net/10400.18/2470

Convergence of genes and cellular pathways dysregulated in autism spectrum disorders

Autor: Pinto, D., Delaby, E., Merico, D., Barbosa, M., Merikangas, A., Klei, L, Thiruvahindrapuram, B., Xu, X., Ziman, R., Wang, Z., Vorstman, J.A., Thompson, A., Regan, R., Pilorge, M., Pellecchia, G., Pagnamenta, A.T., Oliveira, B., Marshall, C.R., Magalhães, T.R., Lowe, J.K., Howe, J.L., Griswold, A.J., Gilbert, J., Duketis, E., Dombroski, B.A., De Jonge, M.V., Cuccaro, M., Crawford, E.L., Correia, C.T., Conroy, J., Conceição, I.C, Chiocchetti, A.G., Casey, J.P., Cai, G., Cabrol, C., Bolshakova, N., Bacchelli, E., Anney, R., Gallinger, S., Cotterchio, M., Casey, G., Zwaigenbaum, L., Wittemeyer, K., Wing, K., Wallace, S., van Engeland, H., Tryfon, A., Thomson, S., Soorya, L., Rogé, B., Roberts, W., Poustka, F., Mouga, S., Minshew, N., McInnes, L.A., McGrew, S.G., Lord, C., Leboyer, M., Le Couteur, A.S., Kolevzon, A., Jiménez González, P., Jacob, S., Holt, R., Guter, S., Green, J., Green, A., Gillberg, C., Fernandez, B.A., Duque, F., Delorme, R., Dawson, G., Chaste, P., Café, C., Brennan, S., Bourgeron, T., Bolton, P.F., Bölte, S., Bernier, R., Baird, G., Bailey, A.J., Anagnostou, E., Almeida, J., Wijsman, E.M., Vieland, V.J., Vicente, A.M., Schellenberg, G.D., Pericak-Vance, M., Paterson, A.D., Parr, J.R., Oliveira, G., Nurnberger, J.I., Monaco, A.P., Maestrini, E., Klauck, S.M., Hakonarson, H., Haines, J.L., Geschwind, D.H., Freitag, C.M., Folstein, S.E., Ennis, S., Coon, H., Battaglia, A., Szatmari, P., Sutcliffe, J.S., Hallmayer, J., Gill, M., Cook, E.H., Buxbaum, J.D., Devlin, B., Gallagher, L., Betancur, C.

Rare copy-number variation (CNV) is an important source of risk for autism spectrum disorders (ASDs). We analyzed 2,446 ASD-affected families and confirmed an excess of genic deletions and duplications in affected versus control groups (1.41-fold, p

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______2016::c37fd7d4251b1665133377b7ef550093
https://hdl.handle.net/10400.18/2278