نتائج البحث - "Vicente, Astrid"

1

دورية أكاديمية

Gene Variants Involved in Nonsense-Mediated mRNA Decay Suggest a Role in Autism Spectrum Disorder

المؤلفون: Marques, Ana Rita, Santos, João Xavier, Martiniano, Hugo, Vilela, Joana, Rasga, Célia, Romão, Luísa, Vicente, Astrid Moura

مصطلحات موضوعية: Autism Spectrum Disorder, Nonsense-mediated mRNA decay, Single Nucleotide Variants, Copy Number Variants, Perturbações do Desenvolvimento Infantil e Saúde Mental, Autismo, Expressão Génica, Genómica Funcional e Estrutural

العلاقة: info:eu-repo/grantAgreement/FCT/6817 - DCRRNI ID/UIDB%2F04046%2F2020/PT; info:eu-repo/grantAgreement/FCT/6817 - DCRRNI ID/UIDP%2F04046%2F2020/PT; info:eu-repo/grantAgreement/FCT/OE/PD%2FBD%2F113773%2F2015/PT; info:eu-repo/grantAgreement/FCT/OE/PD%2FBD%2F114386%2F2016/PT; info:eu-repo/grantAgreement/FCT/OE/PD%2FBD%2F131390%2F2017/PT; https://www.mdpi.com/2227-9059/10/3/665Test; Biomedicines. 2022 Mar 13;10(3):665. doi:10.3390/biomedicines10030665; http://hdl.handle.net/10400.18/8290Test

الإتاحة: https://doi.org/10.3390/biomedicines10030665Test
http://hdl.handle.net/10400.18/8290Test

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النص الكامل

2

دورية أكاديمية

Recurrent duplications of the annexin A1 gene (ANXA1) in autism spectrum disorders

المصدر: Molecular Autism. 5(1)

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/7324t29tTest

View record in eScholarship

3

دورية أكاديمية

Recurrent duplications of the annexin A1 gene (ANXA1) in autism spectrum disorders

مصطلحات موضوعية: ANXA1, Autism, Brain homeostasis, Copy number variants, Duplication, Glucocorticoids

العلاقة: http://hdl.handle.net/10316/109509Test

الإتاحة: https://doi.org/10.1186/2040-2392-5-28Test
http://hdl.handle.net/10316/109509Test

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النص الكامل

4

دورية أكاديمية

Convergence of Genes and Cellular Pathways Dysregulated in Autism Spectrum Disorders

المؤلفون: Pinto, Dalila, Delaby, Elsa, Merico, Daniele, Barbosa, Mafalda, Merikangas, Alison, Klei, Lambertus, Thiruvahindrapuram, Bhooma, Xu, Xiao, Ziman, Robert, Wang, Zhuozhi, Vorstman, Jacob A. S., Thompson, Ann, Regan, Regina, Pilorge, Marion, Pellecchia, Giovanna, Pagnamenta, Alistair T., Oliveira, Barbara, Marshall, Christian R., Magalhaes, Tiago R., Lowe, Jennifer K., Howe, Jennifer L., Griswold, Anthony J., Gilbert, John, Duketis, Eftichia, Dombroski, Beth A., De Jonge, Maretha V., Cuccaro, Michael, Crawford, Emily L., Correia, Catarina T., Conroy, Judith, Conceicao, Ines C., Chiocchetti, Andreas G., Casey, Jillian P., Cai, Guiqing, Cabrol, Christelle, Bolshakova, Nadia, Bacchelli, Elena, Anney, Richard, Gallinger, Steven, Cotterchio, Michelle, Casey, Graham, Zwaigenbaum, Lonnie, Wittemeyer, Kerstin, Wing, Kirsty, Wallace, Simon, van Engeland, Herman, Tryfon, Ana, Thomson, Susanne, Soorya, Latha, Roge, Bernadette, Roberts, Wendy, Poustka, Fritz, Mouga, Susana, Minshew, Nancy, McInnes, L. Alison, McGrew, Susan G., Lord, Catherine, Leboyer, Marion, Le Couteur, Ann S., Kolevzon, Alexander, Gonzalez, Patricia Jimenez, Jacob, Suma, Holt, Richard, Guter, Stephen, Green, Jonathan, Green, Andrew, Gillberg, Christopher, Fernandez, Bridget A., Duque, Frederico, Delorme, Richard, Dawson, Geraldine, Chaste, Pauline, Cafe, Catia, Brennan, Sean, Bourgeron, Thomas, Bolton, Patrick F., Boelte, Sven, Bernier, Raphael, Baird, Gillian, Bailey, Anthony J., Anagnostou, Evdokia, Almeida, Joana, Wijsman, Ellen M., Vieland, Veronica J., Vicente, Astrid M., Schellenberg, Gerard D., Pericak-Vance, Margaret, Paterson, Andrew D., Parr, Jeremy R., Oliveira, Guiomar, Nurnberger, John I., Monaco, Anthony P., Maestrini, Elena, Klauck, Sabine M., Hakonarson, Hakon, Haines, Jonathan L., Geschwind, Daniel H., Freitag, Christine M., Folstein, Susan E., Ennis, Sean, Coon, Hilary, Battaglia, Agatino, Szatmari, Peter, Sutcliffe, James S., Hallmayer, Joachim, Gill, Michael, Cook, Edwin H., Buxbaum, Joseph D., Devlin, Bernie, Gallagher, Louise, Betancur, Catalina, Scherer, Stephen W.

المصدر: Pinto , D , Delaby , E , Merico , D , Barbosa , M , Merikangas , A , Klei , L , Thiruvahindrapuram , B , Xu , X , Ziman , R , Wang , Z , Vorstman , J A S , Thompson , A , Regan , R , Pilorge , M , Pellecchia , G , Pagnamenta , A T , Oliveira , B , Marshall , C R , Magalhaes , T R , Lowe , J K , Howe , J L , Griswold , A J , Gilbert , J ....

مصطلحات موضوعية: DE-NOVO MUTATIONS, COPY NUMBER VARIANTS, GENOME-WIDE ASSOCIATION, FRAGILE-X-SYNDROME, INTELLECTUAL DISABILITY, STRUCTURAL VARIATION, PHENOTYPE ONTOLOGY, DELETIONS, DUPLICATIONS, RISK