Zobrazeno 1 - 10
of 14
pro vyhledávání: '"Patricia Jiménez González"'
Publikováno v:
Health Services Research & Managerial Epidemiology, Vol 6 (2019)
Objectives: Autism spectrum disorder (ASD) is underdiagnosed in children from minority and low socioeconomic status families, and reports indicate that parental “lack of awareness” of symptoms is a factor, which implicates the adoption of the cat
Externí odkaz:
https://doaj.org/article/156f3423a7e74e88930198228b2bf9e2
Autor:
Marcela Esquivel Pla, Silvia Monge, Kathryn Castelle, Patricia Jiménez González, Eliana R. Manghi, Eduardo Fournier, Pamela Bondy, Alison Mclnnes, Marietha Fallas Delgado
Publikováno v:
Psicología Iberoamericana. 14:46-57
Autor:
Rebeca Vindas-Smith, Andrey Sequeira-Cordero, Isabel Castro-Volio, Patricia Jiménez-González, Patricia Cuenca, Manuel Saborío-Rocafort, Marietha Fallas, Melissa Vásquez
Publikováno v:
Revista Mexicana de Neurociencia, vol.23(2), pp.51-56.
Kérwá
Universidad de Costa Rica
instacron:UCR
Kérwá
Universidad de Costa Rica
instacron:UCR
Objective: We aimed to determine the distribution of intermediate and expanded FMR1 alleles in Costa Rican individuals diagnosed with autism. Materials and methods: A total of 212 autism spectrum disorder (ASD) cases of Costa Rican individuals and 94
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::195eb4f078ba1a1cf8f451d6f73a932d
https://www.revmexneurociencia.com/frame_esp.php?id=171
https://www.revmexneurociencia.com/frame_esp.php?id=171
Publikováno v:
Journal of Autism and Developmental Disorders. 48:361-376
Sociodemographic factors have long been associated with disparities in autism spectrum disorder (ASD) diagnosis. Studies that identified spatial clustering of cases have suggested the importance of information about ASD moving through social networks
Autor:
Christine Stevens, Michael E. Zwick, Deepthi Rajagopalan, Mara Parellada, David J. Cutler, Li-San Wang, Norio Ozaki, Jinlu Cai, Lauren A. Weiss, Patricia Jiménez González, Jeffrey C. Barrett, Silvia De Rubeis, Helena Kilpinen, Alexander Kolevzon, Timothy W. Yu, Michael John Owen, Geraldine Dawson, Martin Schulte-Rüther, Jeremy R. Parr, Aarno Palotie, Eftichia Duketis, Lambertus Klei, Irene Lee, Bridget A. Fernandez, Aniko Sabo, Matthew W. State, Sarah Curran, Lucy Crooks, Chad M. Schafer, Avi Ma'ayan, Stephen Sanders, Evan T. Geller, Monica Biscaldi, Stephen W. Scherer, Christopher S. Poultney, Mark J. Daly, Patrick Bolton, Kaija Puura, Maria H. Chahrour, Michael Gill, Li Liu, Louise Gallagher, Ryan K. C. Yuen, Jack A. Kosmicki, Abraham Reichenberg, Christine M. Freitag, Shaun Purcell, Andreas G. Chiocchetti, Peter Szatmari, Sabine M. Klauck, Shih-Chen Fu, Christian R. Marshall, Joseph D. Buxbaum, Tarjinder Singh, Bernie Devlin, Chiao-Feng Lin, A. Ercument Cicek, Karola Rehnström, Pamela Sklar, Otto Valladares, Michael Sachse, Terho Lehtimäki, R. Sean Hill, Arthur P. Goldberg, A. Jeremy Willsey, Jing Lei, Branko Aleksic, Menachem Fromer, Yan Kou, Jessica M. Brownfeld, Annette Voran, Kathryn Roeder, Gerard D. Schellenberg, David Skuse, Thomas Lehner, Hilary Coon, Benjamin M. Neale, Iuliana Ionita-Laza, Kristiina Tammimies, Stephen J. Guter, Christopher A. Walsh, James S. Sutcliffe, Xin-Xin He, Alison L. McInnes, Emily L. Crawford, Nicholas G. Campbell, Angel Carracedo, R. Susan Walker, Edwin H. Cook, Kaitlin E. Samocha, Christina M. Hultman
Publikováno v:
Nature
The genetic architecture of autism spectrum disorder involves the interplay of common and rare variants and their impact on hundreds of genes. Using exome sequencing, here we show that analysis of rare coding variation in 3,871 autism cases and 9,937
Autor:
Joana Almeida, Christian R. Marshall, Hakon Hakonarson, Bárbara Oliveira, Anthony J. Griswold, Jacob A. S. Vorstman, Bhooma Thiruvahindrapuram, Suma Jacob, Judith Conroy, Alistair T. Pagnamenta, Christelle Cabrol, Jeremy R. Parr, Daniel H. Geschwind, Nancy J. Minshew, Xiao Xu, Richard Anney, Sven Bölte, Zhuozhi Wang, Emily L. Crawford, Elsa Delaby, Margaret A. Pericak-Vance, Joachim Hallmayer, Jonathan L. Haines, Dalila Pinto, Susana Mouga, Alexander Kolevzon, Elena Bacchelli, Frederico Duque, Bernie Devlin, Latha Soorya, Cátia Café, Kirsty Wing, Jennifer K. Lowe, Ana Tryfon, Stephen J. Guter, Geraldine Dawson, Tiago R. Magalhaes, Anthony J. Bailey, Michael Gill, Peter Szatmari, Steven Gallinger, Marion Pilorge, James S. Sutcliffe, Bridget A. Fernandez, Herman van Engeland, Catalina Betancur, Guiomar Oliveira, Andrew Green, Eftichia Duketis, Bernadette Rogé, Ann Le Couteur, Evdokia Anagnostou, Michelle Cotterchio, Daniele Merico, Giovanna Pellecchia, Jonathan Green, Regina Regan, Jillian P. Casey, Guiqing Cai, Gerard D. Schellenberg, Jennifer L. Howe, Elena Maestrini, Andrew D. Paterson, L. Alison McInnes, Patrick Bolton, Edwin H. Cook, Richard Delorme, Lambertus Klei, Thomas Bourgeron, Gillian Baird, Christine M. Freitag, Beth A. Dombroski, Andreas G. Chiocchetti, Sabine M. Klauck, Susan E. Folstein, Mafalda Barbosa, Anthony P. Monaco, Marion Leboyer, Nadia Bolshakova, Fritz Poustka, Richard Holt, Kerstin Wittemeyer, Wendy Roberts, Lonnie Zwaigenbaum, Louise Gallagher, Susan G. McGrew, Joseph D. Buxbaum, Graham Casey, Simon Wallace, Catherine Lord, Sean Brennan, Robert Ziman, Alison K. Merikangas, John I. Nurnberger, Christopher Gillberg, Ellen M. Wijsman, Astrid M. Vicente, Inȇs C. Conceição, Sean Ennis, Patricia Jiménez González, Hilary Coon, Raphael Bernier, John R. Gilbert, Ann P. Thompson, Susanne Thomson, Agatino Battaglia, Maretha de Jonge, Michael L. Cuccaro, Catarina Correia, Veronica J. Vieland, Stephen W. Scherer, Pauline Chaste
Publikováno v:
American Journal of Human Genetics
American Journal of Human Genetics, Elsevier (Cell Press), 2014, 94 (5), pp.677-694. ⟨10.1016/j.ajhg.2014.03.018⟩
American Journal of Human Genetics, 2014, 94 (5), pp.677-694. ⟨10.1016/j.ajhg.2014.03.018⟩
American Journal of Human Genetics, Elsevier (Cell Press), 2014, 94 (5), pp.677-694. ⟨10.1016/j.ajhg.2014.03.018⟩
American Journal of Human Genetics, 2014, 94 (5), pp.677-694. ⟨10.1016/j.ajhg.2014.03.018⟩
International audience; 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 contr
Publikováno v:
Healthplace. 35
In the U.S., children with autism spectrum disorder (ASD) have been found to live in spatial clusters. Studies have suggested that the clustering is caused by social or environmental factors, but determining the cause of the clustering is difficult i
Publikováno v:
Archivos de bronconeumologia. 51(10)
Publikováno v:
Archivos de Bronconeumología. 51:481-482
Autor:
Joseph D. Buxbaum, Catalina Betancur, Alisa Nakamine, Hakon Hakonarson, Lisa Edelmann, Elina R Manghi, Marietha Fallas, Patricia Jiménez González, Tracy Brandt, Joseph T. Glessner, L. Alison McInnes, Marion Pilorge
Publikováno v:
Molecular Autism
Molecular Autism, BioMed Central, 2010, 1 (5), 12 p. ⟨10.1186/2040-2392-1-5⟩
Molecular Autism, 2010, 1 (5), 12 p. ⟨10.1186/2040-2392-1-5⟩
Molecular Autism, Vol 1, Iss 1, p 5 (2010)
Molecular Autism, BioMed Central, 2010, 1 (5), 12 p. ⟨10.1186/2040-2392-1-5⟩
Molecular Autism, 2010, 1 (5), 12 p. ⟨10.1186/2040-2392-1-5⟩
Molecular Autism, Vol 1, Iss 1, p 5 (2010)
Background The 15q24 microdeletion syndrome has been recently described as a recurrent, submicroscopic genomic imbalance found in individuals with intellectual disability, typical facial appearance, hypotonia, and digital and genital abnormalities. G
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c0ea2e48bf9834c9aebe1d484c6ae85b
https://www.hal.inserm.fr/inserm-00622567
https://www.hal.inserm.fr/inserm-00622567