Zobrazeno 1 - 10
of 62
pro vyhledávání: '"Fernandez, TV"'
Autor:
State, Matthew, Sanders, Stephan, Murdoch, JD, Gupta, AR, Sanders, SJ, Walker, MF, Keaney, J, Fernandez, TV, Murtha, MT, Anyanwu, S, Ober, GT, Raubeson, MJ
Publikováno v:
State, Matthew; Sanders, Stephan; Murdoch, JD; Gupta, AR; Sanders, SJ; Walker, MF; et al.(2015). No Evidence for Association of Autism with Rare Heterozygous Point Mutations in Contactin-Associated Protein-Like 2 (CNTNAP2), or in Other Contactin-Associated Proteins or Contactins. UC San Francisco: Retrieved from: http://www.escholarship.org/uc/item/2n49t4x4
© 2015 Murdoch et al.Contactins and Contactin-Associated Proteins, and Contactin-Associated Protein-Like 2 (CNTNAP2) in particular, have been widely cited as autism risk genes based on findings from homozygosity mapping, molecular cytogenetics, copy
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od_______325::1e68f9842f60a80854df863b5aa584ab
http://www.escholarship.org/uc/item/2n49t4x4
http://www.escholarship.org/uc/item/2n49t4x4
Autor:
State, Matthew, Gupta, AR, Pirruccello, M, Cheng, F, Kang, HJ, Fernandez, TV, Baskin, JM, Choi, M, Liu, L, Ercan-Sencicek, AG, Murdoch, JD
Publikováno v:
State, Matthew; Gupta, AR; Pirruccello, M; Cheng, F; Kang, HJ; Fernandez, TV; et al.(2014). Rare deleterious mutations of the gene EFR3A in autism spectrum disorders. UC San Francisco: Retrieved from: http://www.escholarship.org/uc/item/1zm007vs
Background: Whole-exome sequencing studies in autism spectrum disorder (ASD) have identified de novo mutations in novel candidate genes, including the synaptic gene Eighty-five Requiring 3A (EFR3A). EFR3A is a critical component of a protein complex
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od_______325::a0c7f3c96697970e323aa40f2add57b2
http://www.escholarship.org/uc/item/1zm007vs
http://www.escholarship.org/uc/item/1zm007vs
Autor:
State, Matthew, Dietrich, A, Fernandez, TV, King, RA, State, MW, Tischfield, JA, Hoekstra, PJ, Heiman, GA
Publikováno v:
State, Matthew; Dietrich, A; Fernandez, TV; King, RA; State, MW; Tischfield, JA; et al.(2014). The Tourette International Collaborative Genetics (TIC Genetics) study, finding the genes causing Tourette syndrome: objectives and methods. UC San Francisco: Retrieved from: http://www.escholarship.org/uc/item/76050727
Tourette syndrome (TS) is a neuropsychiatric disorder characterized by recurrent motor and vocal tics, often accompanied by obsessive-compulsive disorder and/or attention-deficit/hyperactivity disorder. While the evidence for a genetic contribution i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od_______325::c1311bfd874abf206b645fd6b780ba5f
http://www.escholarship.org/uc/item/76050727
http://www.escholarship.org/uc/item/76050727
Autor:
Scharf, JM, Yu, D, Mathews, CA, Neale, BM, Stewart, SE, Fagerness, JA, Evans, P, Gamazon, E, Edlund, CK, Service, SK, Tikhomirov, A, Osiecki, L, Illmann, C, Pluzhnikov, A, Konkashbaev, A, Davis, LK, Han, B, Crane, J, Moorjani, P, Crenshaw, AT, Parkin, MA, Reus, VI, Lowe, TL, Rangel-Lugo, M, Chouinard, S, Dion, Y, Girard, S, Cath, DC, Smit, JH, King, RA, Fernandez, TV, Leckman, JF, Kidd, KK, Kidd, JR, Pakstis, AJ, State, MW, Herrera, LD, Romero, R, Fournier, E, Sandor, P, Barr, CL, Phan, N, Gross-Tsur, V, Benarroch, F, Pollak, Y, Budman, CL, Bruun, RD, Erenberg, G, Naarden, AL, Lee, PC, Weiss, N, Kremeyer, B, Berrío, GB, Campbell, DD, Cardona Silgado, JC, Ochoa, WC, Mesa Restrepo, SC, Muller, H, Valencia Duarte, AV, Lyon, GJ, Leppert, M, Morgan, J, Weiss, R, Grados, MA, Anderson, K, Davarya, S, Singer, H
Publikováno v:
Scharf, JM; Yu, D; Mathews, CA; Neale, BM; Stewart, SE; Fagerness, JA; et al.(2013). Genome-wide association study of Tourette's syndrome. Molecular Psychiatry, 18(6), 721-728. doi: 10.1038/mp.2012.69. UCLA: Retrieved from: http://www.escholarship.org/uc/item/5ns0t7vw
Tourette's syndrome (TS) is a developmental disorder that has one of the highest familial recurrence rates among neuropsychiatric diseases with complex inheritance. However, the identification of definitive TS susceptibility genes remains elusive. He
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od_______325::0343aaa28dd8b3d307bd05f11e31c7f5
http://www.escholarship.org/uc/item/5ns0t7vw
http://www.escholarship.org/uc/item/5ns0t7vw
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Copy number variation in obsessive-compulsive disorder and tourette syndrome: a cross-disorder study
Autor:
McGrath, Lauren M, Yu, Dongmei, Marshall, Christian, Davis, Lea K, Thiruvahindrapuram, Bhooma, Li, Bingbin, Cappi, Carolina, Gerber, Gloria, Wolf, Aaron, Schroeder, Frederick A, Osiecki, Lisa, O'Dushlaine, Colm, Kirby, Andrew, Illmann, Cornelia, Haddad, Stephen, Gallagher, Patience, Fagerness, Jesen A, Barr, Cathy L, Bellodi, Laura, Benarroch, Fortu, Bienvenu, O Joseph, Black, Donald W, Bloch, Michael H, Bruun, Ruth D, Budman, Cathy L, Camarena, Beatriz, Cath, Danielle C, Cavallini, Maria C, Chouinard, Sylvain, Coric, Vladimir, Cullen, Bernadette, Delorme, Richard, Denys, Damiaan, Derks, Eske M, Dion, Yves, Rosário, Maria C, Eapen, Valsama, Evans, Patrick, Falkai, Peter, Fernandez, Thomas V, Garrido, Helena, Geller, Daniel, Grabe, Hans J, Grados, Marco A, Greenberg, Benjamin D, Gross-Tsur, Varda, Grünblatt, Edna, Heiman, Gary A, Hemmings, Sian M J, Herrera, Luis D, Hounie, Ana G, Jankovic, Joseph, Kennedy, James L, King, Robert A, Kurlan, Roger, Lanzagorta, Nuria, Leboyer, Marion, Leckman, James F, Lennertz, Leonhard, Lochner, Christine, Lowe, Thomas L, Lyon, Gholson J, Macciardi, Fabio, Maier, Wolfgang, McCracken, James T, McMahon, William, Murphy, Dennis L, Naarden, Allan L, Neale, Benjamin M, Nurmi, Erika, Pakstis, Andrew J, Pato, Michele T, Pato, Carlos N, Piacentini, John, Pittenger, Christopher, Pollak, Yehuda, Reus, Victor I, Richter, Margaret A, Riddle, Mark, Robertson, Mary M, Rosenberg, David, Rouleau, Guy A, Ruhrmann, Stephan, Sampaio, Aline S, Samuels, Jack, Sandor, Paul, Sheppard, Brooke, Singer, Harvey S, Smit, Jan H, Stein, Dan J, Tischfield, Jay A, Vallada, Homero, Veenstra-VanderWeele, Jeremy, Walitza, Susanne, Wang, Ying, Wendland, Jens R, Shugart, Yin Yao, Miguel, Euripedes C, Nicolini, Humberto, Oostra, Ben A, Moessner, Rainald, Wagner, Michael, Ruiz-Linares, Andres, Heutink, Peter, Nestadt, Gerald, Freimer, Nelson, Petryshen, Tracey, Posthuma, Danielle, Jenike, Michael A, Cox, Nancy J, Hanna, Gregory L, Brentani, Helena, Scherer, Stephen W, Arnold, Paul D, Stewart, S Evelyn, Mathews, Carol A, Knowles, James A, Cook, Edwin H, Pauls, David L, Wang, Kai, Scharf, Jeremiah M, Leerstoel Hout, Sub String Theory Cosmology and ElemPart, Experimental psychopathology
Publikováno v:
Journal of the American Academy of Child and Adolescent Psychiatry, 53(8), 910-919. Elsevier Ltd.
Journal of the American Academy of Child and Adolescent Psychiatry 53(8), 910-919 (2014). doi:10.1016/j.jaac.2014.04.022
Journal of the American Academy of Child and Adolescent Psychiatry, 53(8), 910-919. Elsevier Limited
Journal of the American Academy of Child and Adolescent Psychiatry, 53(8), 910. Elsevier Limited
Journal of the American Academy of Child and Adolescent Psychiatry, 53(8), 910-9. Elsevier B.V.
McGrath, L M, Yu, D, Marshall, C, Davis, L K, Thiruvahindrapuram, B, Li, B, Cappi, C, Gerber, G, Wolf, A, Schroeder, F A, Osiecki, L, O'Dushlaine, C, Kirby, A, Illmann, C, Haddad, S, Gallagher, P, Fagerness, J A, Barr, C L, Bellodi, L, Benarroch, F, Bienvenu, O J, Black, D W, Bloch, M H, Bruun, R D, Budman, C L, Camarena, B, Cath, D C, Cavallini, M C, Chouinard, S, Coric, V, Cullen, B, Delorme, R, Denys, D, Derks, E M, Dion, Y, Rosário, M C, Eapen, V, Evans, P, Falkai, P, Fernandez, T V, Garrido, H, Geller, D, Grabe, H J, Grados, M A, Greenberg, B D, Gross-Tsur, V, Grünblatt, E, Heiman, G A, Hemmings, S M, Herrera, L D, Hounie, A G, Jankovic, J, Kennedy, J L, King, R A, Kurlan, R, Lanzagorta, N, Leboyer, M, Leckman, J F, Lennertz, L, Lochner, C, Lowe, T L, Lyon, G J, Macciardi, F, Maier, W, McCracken, J T, McMahon, W, Murphy, D L, Naarden, A L, Neale, B M, Nurmi, E, Pakstis, A J, Pato, M T, Piacentini, J, Pittenger, C, Pollak, Y, Reus, V I, Richter, M A, Riddle, M, Robertson, M M, Rosenberg, D, Rouleau, G A, Ruhrmann, S, Sampaio, A S, Samuels, J, Sandor, P, Sheppard, B, Singer, H S, Smit, J H, Stein, D J, Tischfield, J A, Vallada, H, Veenstra-Vanderweele, J, Walitza, S, Wang, Y, Wendland, J R, Shugart, Y Y, Miguel, E C, Nicolini, H, Oostra, B A, Moessner, R, Wagner, M, Ruiz-Linares, A, Heutink, P, Nestadt, G, Freimer, N, Petryshen, T, Posthuma, D, Jenike, M A, Cox, N J, Hanna, G L, Brentani, H, Scherer, S W, Arnold, P D, Stewart, S E, Mathews, C A, Knowles, J A, Cook, E H, Pauls, D L, Wang, K & Scharf, J M 2014, ' Copy number variation in obsessive-compulsive disorder and tourette syndrome: a cross-disorder study. ', Journal of the American Academy of Child and Adolescent Psychiatry, vol. 53, no. 8, pp. 910-919 . https://doi.org/10.1016/j.jaac.2014.04.022
Journal of the American Academy of Child and Adolescent Psychiatry 53(8), 910-919 (2014). doi:10.1016/j.jaac.2014.04.022
Journal of the American Academy of Child and Adolescent Psychiatry, 53(8), 910-919. Elsevier Limited
Journal of the American Academy of Child and Adolescent Psychiatry, 53(8), 910. Elsevier Limited
Journal of the American Academy of Child and Adolescent Psychiatry, 53(8), 910-9. Elsevier B.V.
McGrath, L M, Yu, D, Marshall, C, Davis, L K, Thiruvahindrapuram, B, Li, B, Cappi, C, Gerber, G, Wolf, A, Schroeder, F A, Osiecki, L, O'Dushlaine, C, Kirby, A, Illmann, C, Haddad, S, Gallagher, P, Fagerness, J A, Barr, C L, Bellodi, L, Benarroch, F, Bienvenu, O J, Black, D W, Bloch, M H, Bruun, R D, Budman, C L, Camarena, B, Cath, D C, Cavallini, M C, Chouinard, S, Coric, V, Cullen, B, Delorme, R, Denys, D, Derks, E M, Dion, Y, Rosário, M C, Eapen, V, Evans, P, Falkai, P, Fernandez, T V, Garrido, H, Geller, D, Grabe, H J, Grados, M A, Greenberg, B D, Gross-Tsur, V, Grünblatt, E, Heiman, G A, Hemmings, S M, Herrera, L D, Hounie, A G, Jankovic, J, Kennedy, J L, King, R A, Kurlan, R, Lanzagorta, N, Leboyer, M, Leckman, J F, Lennertz, L, Lochner, C, Lowe, T L, Lyon, G J, Macciardi, F, Maier, W, McCracken, J T, McMahon, W, Murphy, D L, Naarden, A L, Neale, B M, Nurmi, E, Pakstis, A J, Pato, M T, Piacentini, J, Pittenger, C, Pollak, Y, Reus, V I, Richter, M A, Riddle, M, Robertson, M M, Rosenberg, D, Rouleau, G A, Ruhrmann, S, Sampaio, A S, Samuels, J, Sandor, P, Sheppard, B, Singer, H S, Smit, J H, Stein, D J, Tischfield, J A, Vallada, H, Veenstra-Vanderweele, J, Walitza, S, Wang, Y, Wendland, J R, Shugart, Y Y, Miguel, E C, Nicolini, H, Oostra, B A, Moessner, R, Wagner, M, Ruiz-Linares, A, Heutink, P, Nestadt, G, Freimer, N, Petryshen, T, Posthuma, D, Jenike, M A, Cox, N J, Hanna, G L, Brentani, H, Scherer, S W, Arnold, P D, Stewart, S E, Mathews, C A, Knowles, J A, Cook, E H, Pauls, D L, Wang, K & Scharf, J M 2014, ' Copy number variation in obsessive-compulsive disorder and tourette syndrome: a cross-disorder study. ', Journal of the American Academy of Child and Adolescent Psychiatry, vol. 53, no. 8, pp. 910-919 . https://doi.org/10.1016/j.jaac.2014.04.022
Objective Obsessive-compulsive disorder (OCD) and Tourette syndrome (TS) are heritable neurodevelopmental disorders with a partially shared genetic etiology. This study represents the first genome-wide investigation of large (>500 kb), rare (
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::089641c96efdc66b8e2e624528389faf
https://www.zora.uzh.ch/id/eprint/97769/
https://www.zora.uzh.ch/id/eprint/97769/