المؤلفون: Satterstrom, FK, Kosmicki, JA, Wang, JB, Breen, MS, De Rubeis, S, An, JY, Peng, MS, Collins, R, Grove, J, Klei, L, Stevens, C, Reichert, J, Mulhern, MS, Artomov, M, Gerges, S, Sheppard, B, Xu, XY, Bhaduri, A, Norman, U, Brand, H, Schwartz, G, Nguyen, R, Guerrero, EE, Dias, C, Betancur, C, Cook, EH, Gallagher, L, Gill, M, Sutcliffe, JS, Thurm, A, Zwick, ME, Borglum, AD, State, MW, Cicek, AE, Talkowski, ME, Cutler, DJ, Devlin, B, Sanders, SJ, Roeder, K, Daly, MJ, Buxbaum, JD, Aleksic, B, Anney, R, Barbosa, M, Bishop, S, Brusco, A, Bybjerg-Grauholm, J, Carracedo, A, Chan, MCY, Chiocchetti, AG, Chung, BHY, Coon, H, Cuccaro, ML, Curro, A, Dalla Bernardina, B, Doan, R, Domenici, E, Dong, S, Fallerini, C, Fernandez-Prieto, M, Ferrero, GB, Freitag, CM, Fromer, M, Gargus, JJ, Geschwind, D, Giorgio, E, Gonzalez-Penas, J, Guter, S, Halpern, D, Hansen-Kiss, E, He, X, Herman, GE, Hertz-Picciotto, I, Hougaard, DM, Hultman, CM, Ionita-Laza, I, Jacob, S, Jamison, J, Jugessur, A, Kaartinen, M, Knudsen, GP, Kolevzon, A, Kushima, I, Lee, SL, Lehtimaki, T, Lim, ET, Lintas, C, Lipkin, WI, Lopergolo, D, Lopes, F, Ludena, Y, Maciel, P, Magnus, P, Mahjani, B, Maltman, N, Manoach, DS, Meiri, G, Menashe, I, Miller, J, Minshew, N, Montenegro, EMS, Moreira, D, Morrow, EM, Mors, O, Mortensen, PB, Mosconi, M, Muglia, P, Neale, BM, Nordentoft, M, Ozaki, N, Palotie, A, Parellada, M, Passos-Bueno, MR, Pericak-Vance, M, Persico, AM, Pessah, I, Puura, K, Reichenberg, A, Renieri, A, Riberi, E, Robinson, EB, Samocha, KE, Sandin, S, Santangelo, SL, Schellenberg, G, Scherer, SW, Schlitt, S, Schmidt, R, Schmitt, L, Silva, IMW, Singh, T, Siper, PM, Smith, M, Soares, G, Stoltenberg, C, Suren, P, Susser, E, Sweeney, J, Szatmari, P, Tang, L, Tassone, F, Teufel, K, Trabetti, E, Trelles, MD, Walsh, CA, Weiss, LA, Werge, T, Werling, DM, Wigdor, EM, Wilkinson, E, Willsey, AJ, Yu, TW, Yu, MH, Yuen, R, Zachi, E, Agerbo, E, Als, TD, Appadurai, V, Baekvad-Hansen, M, Belliveau, R, Buil, A, Carey, CE, Cerrato, F, Chambert, K, Churchhouse, C, Dalsgaard, S, Demontis, D, Dumont, A, Goldstein, J, Hansen, CS, Hauberg, ME, Hollegaard, MV, Howrigan, DP, Huang, HL, Maller, J, Martin, AR, Martin, J, Mattheisen, M, Moran, J, Pallesen, J, Palmer, DS, Pedersen, CB, Pedersen, MG, Poterba, T, Poulsen, JB, Ripke, S, Schork, AJ, Thompson, WK, Turley, P, Walters, RK

المصدر: Cell. 180(3):568

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:142943094

المؤلفون: De Rubeis, S, He, X, Goldberg, AP, Poultney, CS, Samocha, K, Cicek, AE, Kou, Y, Liu, L, Fromer, M, Walker, S, Singh, T, Klei, L, Kosmicki, J, Fu, SC, Aleksic, B, Biscaldi, M, Bolton, PF, Brownfeld, JM, Cai, JL, Campbell, NG, Carracedo, A, Chahrour, MH, Chiocchetti, AG, Coon, H, Crawford, EL, Crooks, L, Curran, SR, Dawson, G, Duketis, E, Fernandez, BA, Gallagher, L, Geller, E, Guter, SJ, Hill, RS, Ionita-Laza, I, Gonzalez, PJ, Kilpinen, H, Klauck, SM, Kolevzon, A, Lee, I, Lei, J, Lehtimaki, T, Lin, CF, Ma'ayan, A, Marshall, CR, McInnes, AL, Neale, B, Owen, MJ, Ozaki, N, Parellada, M, Parr, JR, Purcell, S, Puura, K, Rajagopalan, D, Rehnstrom, K, Reichenberg, A, Sabo, A, Sachse, M, Sanders, SJ, Schafer, C, Schulte-Ruther, M, Skuse, D, Stevens, C, Szatmari, P, Tammimies, K, Valladares, O, Voran, A, Wang, LS, Weiss, LA, Willsey, AJ, Yu, TW, Yuen, RKC, Cook, EH, Freitag, CM, Gill, M, Hultman, CM, Lehner, T, Palotie, A, Schellenberg, GD, Skiar, P, State, MW, Sutcliffe, JS, Walsh, CA, Scherer, SW, Zwick, ME, Barrett, JC, Cutler, DJ, Roeder, K, Devlin, B, Daly, MJ, Buxbaum, JD

المصدر: Nature. 515(7526):209

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:130112455

المؤلفون: Denson, LA, Jurickova, I, Karns, R, Shaw, KA, Cutler, DJ, Okou, D, Alexander Valencia, C, Dodd, A, Mondal, K, Aronow, BJ, Haberman, Y, Linn, A, Price, A, Bezold, R, Lake, K, Jackson, K, Walters, TD, Griffiths, A, Baldassano, RN, Noe, JD, Hyams, JS, Crandall, WV, Kirschner, BS, Heyman, MB, Snapper, S, Guthery, SL, Dubinsky, MC, Leleiko, NS, Otley, AR, Xavier, RJ, Stevens, C, Daly, MJ, Zwick, ME, Kugathasan, S

المصدر: Inflammatory bowel diseases, vol 25, iss 3
Denson, LA; Jurickova, I; Karns, R; Shaw, KA; Cutler, DJ; Okou, D; et al.(2018). Genetic and Transcriptomic Variation Linked to Neutrophil Granulocyte-Macrophage Colony-Stimulating Factor Signaling in Pediatric Crohn's Disease.. Inflammatory bowel diseases. doi: 10.1093/ibd/izy265. UCSF: Retrieved from: http://www.escholarship.org/uc/item/9pw1s15v

مصطلحات موضوعية: Adult, Male, Adolescent, Neutrophils, Clinical Sciences, Crohn's Disease, Autoimmune Disease, Cytokine Receptor Common beta Subunit, Young Adult, Crohn Disease, Clinical Research, Receptors, Genetics, pediatric inflammatory bowel disease, Humans, 2.1 Biological and endogenous factors, whole-exome sequencing, Aetiology, Child, Preschool, STAT5, Gastroenterology & Hepatology, Inflammatory Bowel Disease, Granulocyte-Macrophage Colony-Stimulating Factor, Infant, neutrophil, GM-CSF, RNA sequencing, Prognosis, Case-Control Studies, Mutation, Female, Missense, Transcriptome, Digestive Diseases, Follow-Up Studies

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::3ff2148ee5ce136c1e832ebafd64c520
https://escholarship.org/uc/item/9pw1s15v

المؤلفون: Lim, Elaine T., Uddin, Mohammed, De Rubeis, Silvia, Chan, Yingleong, Kamumbu, Anne S., Zhang, Xiaochang, D'Gama, Alissa M., Kim, Sonia N., Hill, Robert Sean, Goldberg, Arthur P., Poultney, Christopher, Minshew, Nancy J., Kushima, Itaru, Aleksic, Branko, Ozaki, Norio, Parellada, Mara, Arango, Celso, Penzol, Maria J., Carracedo, Angel, Kolevzon, Alexander, Hultman, Christina M., Weiss, Lauren A., Fromer, Menachem, Chiocchetti, Andreas G., Freitag, Christine M., Church, George M., Scherer, Stephen W., Buxbaum, Joseph D., Walsh, Christopher A, Aleksic, B, Anney, R, Barbosa, M, Barrett, J, Betancur, C, Bishop, S, Brusco, A, Buxbaum, Jd, Carracedo, A, Chiocchetti, Ag, Chung, Bhy, Cook, E, Coon, H, Cutler, Dj, Daly, M, De Rubeis, S, Doan, R, Fernández-Prieto, M, Ferrero, Gb, Freitag, Cm, Fromer, M, Gargus, J, Geschwind, D, Gill, M, Gómez-Guerrero, L, Hansen-Kiss, E, He, X, Herman, G, Hertz-Picciotto, I, Hultman, C, Iliadou, B, Ionita-Laza, I, Jugessur, A, Knudsen, Gp, Kolevzon, A, Kosmicki, J, Kushima, I, Lee, Sl, Lehner, T, Lennertz, S, Lim, E, Maciel, P, Magnus, P, Manoach, D, Minshew, N, Morrow, E, Mulle, J, Neale, B, Ozaki, N, Palotie, A, Parellada, M, Passos-Bueno, Mr, Pericak-Vance, M, Persico, A, Pessah, I, Reichenberg, A, Reichert, J, Renieri, A, Robinson, E, Samocha, K, Sanders, S, Sandin, S, Santangelo, Sl, Satterstrom, K, Schafer, C, Schellenberg, G, Scherer, S, Senthil, G, Silva, M, Singh, T, Siper, Pm, Soares, G, Stevens, C, Stoltenberg, C, Surén, P, Sutcliffe, Js, Szatmari, P, Tassone, F, Thurm, A, Walsh, C, Weiss, L, Werling, D, Willsey, J, Xu, X, Yu, Tw, Yuen, R, Zwick, Me.

المساهمون: Howard Hughes Medical Institute [Boston] (HHMI), Howard Hughes Medical Institute (HHMI)-Harvard Medical School [Boston] (HMS), Boston Children's Hospital, Harvard Medical School [Boston] (HMS), Broad Institute of MIT and Harvard (BROAD INSTITUTE), Harvard Medical School [Boston] (HMS)-Massachusetts Institute of Technology (MIT)-Massachusetts General Hospital [Boston], Harvard University [Cambridge], Mohammed Bin Rashid University of Medicine and Health Sciences (MBRU), Icahn School of Medicine at Mount Sinai [New York] (MSSM), University of Pittsburgh (PITT), Pennsylvania Commonwealth System of Higher Education (PCSHE), Nagoya University, Hospital General Universitario 'Gregorio Marañón' [Madrid], Universidad Complutense de Madrid = Complutense University of Madrid [Madrid] (UCM), Centro de Investigación Biomédica en Red Salud Mental [Madrid] (CIBER-SAM), Universidade de Santiago de Compostela [Spain] (USC ), CIBER de Enfermedades Raras (CIBERER), Fundación Pública Galega Medicina Xenómica - SERGAS [Santiago de Compostela, Spain] (Grupo de Medicina Xenómica), CIBER de Enfermedades Raras (CIBERER)-Universidade de Santiago de Compostela [Spain] (USC ), King Abdulaziz University, Karolinska Institutet [Stockholm], University of California [San Francisco] (UCSF), University of California, Goethe-University Frankfurt am Main, Génétique de l'autisme = Genetics of Autism (NPS-01), Neurosciences Paris Seine (NPS), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut de Biologie Paris Seine (IBPS), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut de Biologie Paris Seine (IBPS), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), The Hospital for sick children [Toronto] (SickKids), University of Toronto, McLaughlin Centre for Population Health Risk Assessment, University of Ottawa [Ottawa], Autism Sequencing Consortium: Branko Aleksic, Richard Anney, Mafalda Barbosa, Jeffrey Barrett, Catalina Betancur, Somer Bishop, Alfredo Brusco, Joseph D Buxbaum, Angel Carracedo, Andreas G Chiocchetti, Brian H Y Chung, Edwin Cook, Hilary Coon, David J Cutler, Mark Daly, Silvia De Rubeis, Ryan Doan, Montserrat Fernández-Prieto, Giovanni Battista Ferrero, Christine M Freitag, Menachem Fromer, Jay Gargus, Dan Geschwind, Michael Gill, Lorena Gómez-Guerrero, Emily Hansen-Kiss, Xin He, Gail Herman, Irva Hertz-Picciotto, Christina Hultman, Bozenna Iliadou, Iuliana Ionita-Laza, Anil Jugessur, Gun Peggy Knudsen, Alexander Kolevzon, Jack Kosmicki, Itaru Kushima, S L Lee, Thomas Lehner, Savannah Lennertz, Elaine Lim, Patricia Maciel, Per Magnus, Dara Manoach, Nancy Minshew, Eric Morrow, Jennifer Mulle, Benjamin Neale, Norio Ozaki, Aarno Palotie, Mara Parellada, Maria Rita Passos-Bueno, Margaret Pericak-Vance, Antonio Persico, Isaac Pessah, Avi Reichenberg, Jennifer Reichert, Alessandra Renieri, Elise Robinson, Kaitlin Samocha, Stephan Sanders, Sven Sandin, Susan L Santangelo, Kyle Satterstrom, Chad Schafer, Gerry Schellenberg, Stephen Scherer, Geetha Senthil, Marisol Silva, Tarjinder Singh, Paige M Siper, Gabriela Soares, Christine Stevens, Camilla Stoltenberg, Pål Surén, James S Sutcliffe, Peter Szatmari, Flora Tassone, Audrey Thurm, Christopher Walsh, Lauren Weiss, Donna Werling, Jeremy Willsey, Xinyi Xu, Timothy W Yu, Ryan Yuen, Michael E Zwick., University of California [San Francisco] (UC San Francisco), University of California (UC), Neuroscience Paris Seine (NPS), Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS)-Institut de Biologie Paris Seine (IBPS), Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Betancur, Catalina

المصدر: Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
Nature Neuroscience
Nature Neuroscience, Nature Publishing Group, 2017, 20 (9), pp.1217-1224. ⟨10.1038/nn.4598⟩
Nature Neuroscience, 2017, 20 (9), pp.1217-1224. ⟨10.1038/nn.4598⟩
Nature neuroscience

مصطلحات موضوعية: 0301 basic medicine, Proband, Nonsynonymous substitution, Autism Spectrum Disorder, Databases, Genetic, Genetic Predisposition to Disease, Genetic Variation, Humans, Mosaicism, Mutation, Missense, Zygote, Neuroscience (all), Mutation, Missense, Epigenetics of autism, Biology, [SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics, medicine.disease_cause, Article, 03 medical and health sciences, Genetic variation, mental disorders, Databases, Genetic, medicine, Missense mutation, Heritability of autism, MESH: Genetic Variation, MESH: Databases, Genetic, Genetics, MESH: Autism Spectrum Disorder, MESH: Mutation, Missense, [SDV.GEN]Life Sciences [q-bio]/Genetics, MESH: Humans, General Neuroscience, MESH: Genetic Predisposition to Disease, medicine.disease, 030104 developmental biology, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Autism spectrum disorder, MESH: Zygote, MESH: Mosaicism

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ec4699aa2b3e33998a0424fa6605504e
http://hdl.handle.net/2318/1659858

المؤلفون: Wolf Minotti, Federica, Qiao, Y, Mondal, K, Trapani, Valentina, Wen, J, Carpenter, G, Wildin, R, Price, Em, Gibbons, Rj, Eichmeyer, J, Jiang, R, Dupont, B, Martell, S, Lewis, Sm, Robinson, Wp, O'Driscoll, M, Wolf, Fi, Zwick, Me, Rajcan Separovic, E.

مصطلحات موضوعية: Male, X-linked Nuclear Protein, Biology, medicine.disease_cause, Settore MED/03 - GENETICA MEDICA, DNA, Ribosomal, Exon, Genes, Duplicate, Gene duplication, Genetics, medicine, x-linked intellectual disability, Humans, Point Mutation, Exome, Cation Transport Proteins, Genetics (clinical), X chromosome, Exome sequencing, ATRX, Cytokinesis, Oligonucleotide Array Sequence Analysis, Mutation, Chromosomes, Human, X, X LINKED DISEASE, magnesium channels, Point mutation, Pruritus, DNA Helicases, Nuclear Proteins, Sequence Analysis, DNA, Syndrome, DNA Methylation, Introns, Pedigree, Phenotype, MAGNESIUM, Cancer research, Mental Retardation, X-Linked, Female

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6c5f7f82dc7cc18e6766d4cadc8ed234
http://hdl.handle.net/10807/56465

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