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1.

RAB1A haploinsufficiency phenocopies the 2p14-p15 microdeletion and is associated with impaired neuronal differentiation.

Rios, Jonathan J; Li, Yang; Paria, Nandina; Bohlender, Ryan J; Huff, Chad; Rosenfeld, Jill A; Liu, Pengfei; Bi, Weimin; Haga, Kentaro; Fukuda, Mitsunori; Vashisth, Shayal; Kaur, Kiran; Chahrour, Maria H; Bober, Michael B; Duker, Angela L; Ladha, Farah A; Hanchard, Neil A; Atala, Kristhen; Khanshour, Anas M; Smith, Linsley; Wise, Carol A; Delgado, Mauricio R.

Am J Hum Genet; 110(12): 2103-2111, 2023 Dec 07.

Artículo en Inglés | MEDLINE | ID: mdl-37924809

2.

Evolution of Osteocrin as an activity-regulated factor in the primate brain.

Ataman, Bulent; Boulting, Gabriella L; Harmin, David A; Yang, Marty G; Baker-Salisbury, Mollie; Yap, Ee-Lynn; Malik, Athar N; Mei, Kevin; Rubin, Alex A; Spiegel, Ivo; Durresi, Ershela; Sharma, Nikhil; Hu, Linda S; Pletikos, Mihovil; Griffith, Eric C; Partlow, Jennifer N; Stevens, Christine R; Adli, Mazhar; Chahrour, Maria; Sestan, Nenad; Walsh, Christopher A; Berezovskii, Vladimir K; Livingstone, Margaret S; Greenberg, Michael E.

Nature; 539(7628): 242-247, 2016 11 10.

Artículo en Inglés | MEDLINE | ID: mdl-27830782

3.

The ubiquitin ligase UBE3B, disrupted in intellectual disability and absent speech, regulates metabolic pathways by targeting BCKDK.

Cheon, Solmi; Kaur, Kiran; Nijem, Nadine; Tuncay, Islam Oguz; Kumar, Pooja; Dean, Milan; Juusola, Jane; Guillen-Sacoto, Maria J; Bedoukian, Emma; Ierardi-Curto, Lynne; Kaplan, Paige; Schaefer, G Bradley; Mishra, Prashant; Chahrour, Maria H.

Proc Natl Acad Sci U S A; 116(9): 3662-3667, 2019 02 26.

Artículo en Inglés | MEDLINE | ID: mdl-30808755

4.

Synaptic, transcriptional and chromatin genes disrupted in autism.

De Rubeis, Silvia; He, Xin; Goldberg, Arthur P; Poultney, Christopher S; Samocha, Kaitlin; Cicek, A Erucment; Kou, Yan; Liu, Li; Fromer, Menachem; Walker, Susan; Singh, Tarinder; Klei, Lambertus; Kosmicki, Jack; Shih-Chen, Fu; Aleksic, Branko; Biscaldi, Monica; Bolton, Patrick F; Brownfeld, Jessica M; Cai, Jinlu; Campbell, Nicholas G; Carracedo, Angel; Chahrour, Maria H; Chiocchetti, Andreas G; Coon, Hilary; Crawford, Emily L; Curran, Sarah R; Dawson, Geraldine; Duketis, Eftichia; Fernandez, Bridget A; Gallagher, Louise; Geller, Evan; Guter, Stephen J; Hill, R Sean; Ionita-Laza, Juliana; Jimenz Gonzalez, Patricia; Kilpinen, Helena; Klauck, Sabine M; Kolevzon, Alexander; Lee, Irene; Lei, Irene; Lei, Jing; Lehtimäki, Terho; Lin, Chiao-Feng; Ma'ayan, Avi; Marshall, Christian R; McInnes, Alison L; Neale, Benjamin; Owen, Michael J; Ozaki, Noriio; Parellada, Mara.

Nature; 515(7526): 209-15, 2014 Nov 13.

Artículo en Inglés | MEDLINE | ID: mdl-25363760

5.

The ubiquitin proteasome pathway in neuropsychiatric disorders.

Cheon, Solmi; Dean, Milan; Chahrour, Maria.

Neurobiol Learn Mem; 165: 106791, 2019 11.

Artículo en Inglés | MEDLINE | ID: mdl-29398581

6.

PSMD12 haploinsufficiency in a neurodevelopmental disorder with autistic features.

Khalil, Raida; Kenny, Connor; Hill, R Sean; Mochida, Ganeshwaran H; Nasir, Ramzi; Partlow, Jennifer N; Barry, Brenda J; Al-Saffar, Muna; Egan, Chloe; Stevens, Christine R; Gabriel, Stacey B; Barkovich, A James; Ellison, Jay W; Al-Gazali, Lihadh; Walsh, Christopher A; Chahrour, Maria H.

Am J Med Genet B Neuropsychiatr Genet; 177(8): 736-745, 2018 12.

Artículo en Inglés | MEDLINE | ID: mdl-30421579

7.

Current Perspectives in Autism Spectrum Disorder: From Genes to Therapy.

Chahrour, Maria; O'Roak, Brian J; Santini, Emanuela; Samaco, Rodney C; Kleiman, Robin J; Manzini, M Chiara.

J Neurosci; 36(45): 11402-11410, 2016 11 09.

Artículo en Inglés | MEDLINE | ID: mdl-27911742

8.

The diverse genetic landscape of neurodevelopmental disorders.

Hu, Wen F; Chahrour, Maria H; Walsh, Christopher A.

Annu Rev Genomics Hum Genet; 15: 195-213, 2014.

Artículo en Inglés | MEDLINE | ID: mdl-25184530

9.

Dysfunction in GABA signalling mediates autism-like stereotypies and Rett syndrome phenotypes.

Chao, Hsiao-Tuan; Chen, Hongmei; Samaco, Rodney C; Xue, Mingshan; Chahrour, Maria; Yoo, Jong; Neul, Jeffrey L; Gong, Shiaoching; Lu, Hui-Chen; Heintz, Nathaniel; Ekker, Marc; Rubenstein, John L R; Noebels, Jeffrey L; Rosenmund, Christian; Zoghbi, Huda Y.

Nature; 468(7321): 263-9, 2010 Nov 11.

Artículo en Inglés | MEDLINE | ID: mdl-21068835

10.

Whole-exome sequencing and homozygosity analysis implicate depolarization-regulated neuronal genes in autism.

Chahrour, Maria H; Yu, Timothy W; Lim, Elaine T; Ataman, Bulent; Coulter, Michael E; Hill, R Sean; Stevens, Christine R; Schubert, Christian R; Greenberg, Michael E; Gabriel, Stacey B; Walsh, Christopher A.

PLoS Genet; 8(4): e1002635, 2012.

Artículo en Inglés | MEDLINE | ID: mdl-22511880

11.

Ube3a/E6AP is involved in a subset of MeCP2 functions.

Kim, Soeun; Chahrour, Maria; Ben-Shachar, Shay; Lim, Janghoo.

Biochem Biophys Res Commun; 437(1): 67-73, 2013 Jul 19.

Artículo en Inglés | MEDLINE | ID: mdl-23791832

12.

Genomic strategies to untangle the etiology of autism: A primer.

Vashisth, Shayal; Chahrour, Maria H.

Autism Res; 16(1): 31-39, 2023 01.

Artículo en Inglés | MEDLINE | ID: mdl-36415077

13.

A novel autism-associated UBLCP1 mutation impacts proteasome regulation/activity.

Soueid, Jihane; Hamze, Zeinab; Bedran, Joe; Chahrour, Maria; Boustany, Rose-Mary.

Transl Psychiatry; 13(1): 404, 2023 Dec 21.

Artículo en Inglés | MEDLINE | ID: mdl-38129378

14.

Disruption of the autism gene and chromatin regulator KDM5A alters hippocampal cell identity.

El Hayek, Lauretta; DeVries, Darlene; Gogate, Ashlesha; Aiken, Ariel; Kaur, Kiran; Chahrour, Maria H.

Sci Adv; 9(47): eadi0074, 2023 11 24.

Artículo en Inglés | MEDLINE | ID: mdl-37992166

15.

The genetics of autism spectrum disorder in an East African familial cohort.

Tuncay, Islam Oguz; DeVries, Darlene; Gogate, Ashlesha; Kaur, Kiran; Kumar, Ashwani; Xing, Chao; Goodspeed, Kimberly; Seyoum-Tesfa, Leah; Chahrour, Maria H.

Cell Genom; 3(7): 100322, 2023 Jul 12.

Artículo en Inglés | MEDLINE | ID: mdl-37492102

16.

Analysis of recent shared ancestry in a familial cohort identifies coding and noncoding autism spectrum disorder variants.

Tuncay, Islam Oguz; Parmalee, Nancy L; Khalil, Raida; Kaur, Kiran; Kumar, Ashwani; Jimale, Mohamed; Howe, Jennifer L; Goodspeed, Kimberly; Evans, Patricia; Alzghoul, Loai; Xing, Chao; Scherer, Stephen W; Chahrour, Maria H.

NPJ Genom Med; 7(1): 13, 2022 Feb 21.

Artículo en Inglés | MEDLINE | ID: mdl-35190550

17.

The story of Rett syndrome: from clinic to neurobiology.

Chahrour, Maria; Zoghbi, Huda Y.

Neuron; 56(3): 422-37, 2007 Nov 08.

Artículo en Inglés | MEDLINE | ID: mdl-17988628

18.

Mouse models of MeCP2 disorders share gene expression changes in the cerebellum and hypothalamus.

Ben-Shachar, Shay; Chahrour, Maria; Thaller, Christina; Shaw, Chad A; Zoghbi, Huda Y.

Hum Mol Genet; 18(13): 2431-42, 2009 Jul 01.

Artículo en Inglés | MEDLINE | ID: mdl-19369296

19.

A Brief Survey of Medical Practitioner Knowledge and Attitudes Regarding Autism Spectrum Disorder in Bahir Dar, Ethiopia.

Kissel, Abigail; Gebreyohanns, Mehari; Chahrour, Maria H.

Afr J Health Sci; 34(3): 364-373, 2021 Aug 11.

Artículo en Inglés | MEDLINE | ID: mdl-37920188

20.

Homozygous deletions implicate non-coding epigenetic marks in Autism spectrum disorder.

Schmitz-Abe, Klaus; Sanchez-Schmitz, Guzman; Doan, Ryan N; Hill, R Sean; Chahrour, Maria H; Mehta, Bhaven K; Servattalab, Sarah; Ataman, Bulent; Lam, Anh-Thu N; Morrow, Eric M; Greenberg, Michael E; Yu, Timothy W; Walsh, Christopher A; Markianos, Kyriacos.

Sci Rep; 10(1): 14045, 2020 08 20.

Artículo en Inglés | MEDLINE | ID: mdl-32820185

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