Zobrazeno 1 - 10
of 22
pro vyhledávání: '"Conceição, I.C"'
Autor:
Asif, M., Conceição, I.C., Kwiatkowska, K., Rasga, C., Café, Cátia, Sousa, L., Oliveira, G., Couto, M.F., Vicente, A.M.
Introduction: Autism Spectrum Disorder (ASD) is a frequent and complex neurodevelopmental disorder, characterized by impairments in social communication and repetitive behaviors and with a high male to female ratio: ~4:1. Genetic factors, including r
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______2016::70d41a5a5d4f297fda7478f3fd987def
https://hdl.handle.net/10400.18/3852
https://hdl.handle.net/10400.18/3852
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
https://hdl.handle.net/10400.18/3502
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
https://hdl.handle.net/10400.18/2471
Autor:
Asif, M., Conceição, I.C., Machado, C., Pereira, P., Café, C., Almeida, J., Mouga, S., Oliveira, G., Couto, F., Vicente, A.M.
Patients and parents were genotyped in the context of the Autism Genome Project Introduction: Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder of high complexity ASD is characterized by impaired social interaction and communication and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______2016::6bbb61ed6bcac360af089f885b18d236
https://hdl.handle.net/10400.18/2469
https://hdl.handle.net/10400.18/2469
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
https://hdl.handle.net/10400.18/2470
Akademický článek
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Autor:
Hadley, D., Wu, Z.L., Kao, C., Kini, A., Mohamed-Hadley, A., Thomas, K., Vazquez, L., Qiu, H., Mentch, F., Pellegrino, R., Kim, C., Connolly, J., Glessner, J., Hakonarson, H., Pinto, D., Merikangas, A., Klei, L., Vorstman, J.A., Thompson, A., Regan, R., Pagnamenta, A.T., Oliveira, B., Magalhaes, T.R., Gilbert, J., Duketis, E., De Jonge, M.V., Cuccaro, M., Correia, C.T., Conroy, J., Conceição, I.C., Chiocchetti, A.G., Casey, J.P., Bolshakova, N., Bacchelli, E., Anney, R., Zwaigenbaum, L., Wittemeyer, K., Wallace, S., Engeland, Hv, Soorya, L., Rogé, B., Roberts, W., Poustka, F., Mouga, S., Minshew, N., McGrew, S.G., Lord, C., Leboyer, M., Le Couteur, A.S., Kolevzon, A., Jacob, S., Guter, S., Green, J., Green, A., Gillberg, C., Fernandez, B.A., Duque, F., Delorme, R., Dawson, G., 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., Correia, C., Nurnberger, J.I., Monaco, A.P., Maestrini, E., Klauck, S.M., 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., Scherer, S.W.
Although multiple reports show that defective genetic networks underlie the aetiology of autism, few have translated into pharmacotherapeutic opportunities. Since drugs compete with endogenous small molecules for protein binding, many successful drug
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______2016::7c9ad66dc789cda80452a0b9b3f251cc
https://hdl.handle.net/10400.18/2440
https://hdl.handle.net/10400.18/2440
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
https://hdl.handle.net/10400.18/2278
Autor:
Oliveira, B.A., Correia, C.A., Conceição, I.C., Café, C., Almeida, J., Mouga, S., Duque, F., Oliveira, G., Vicente, A.M.
Copy Number Variants (CNVs) play an important role in susceptibility to ASD, often mediated by the deletion or duplication of genes involved in synaptic structure and function. Increasing evidence suggests a central role for defects in synaptic struc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______2016::c3eccd73bf5377f8539d56bf8940ae0e
https://hdl.handle.net/10400.18/1640
https://hdl.handle.net/10400.18/1640
Autor:
Oliveira, B.A., Conceição, I.C., Correia, C.A., Café, C., Almeida, J., Mouga, S., Duque, F., Oliveira, G., Vicente, A.M.
This work was supported by the fellowships SFRH/BD/79081/2011 to BO, SFRH/BPD/74739/2010 to ICC and SFRH/BPD/64281/2009 to CC from Fundação para a Ciência e a Tecnologia (FCT; Portugal). Copy Number Variants (CNVs) play an important role in suscep
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______2016::cc361a935d5590907791d80ff70fe839
https://hdl.handle.net/10400.18/1120
https://hdl.handle.net/10400.18/1120