Zobrazeno 1 - 10
of 290
pro vyhledávání: '"Scherer, S W"'
Akademický článek
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Autor:
Leclerc, D., Wilson, A., Dumas, R., Gafuik, C., Song, D., Watkins, D., Heng, H. H. Q., Rommens, J. M., Scherer, S. W., Rosenblatt, D. S., Gravel, R. A.
Publikováno v:
Proceedings of the National Academy of Sciences of the United States of America, 1998 Mar . 95(6), 3059-3064.
Externí odkaz:
https://www.jstor.org/stable/44797
Autor:
J. M., Fu, Satterstrom, F. K., Peng, M., Brand, H., Collins, R. L., Dong, S., Wamsley, B., Klei, L., Wang, L., Hao, S. P., Stevens, C. R., Cusick, C., Babadi, M., Banks, E., Collins, B., Dodge, S., Gabriel, S. B., Gauthier, L., Lee, S. K., Liang, L., Ljungdahl, A., Mahjani, B., Sloofman, L., Smirnov, A. N., Barbosa, M., Betancur, C., Brusco, A., Chung, B. H. Y., Cook, E. H., Cuccaro, M. L., Domenici, E., Ferrero, G. B., Gargus, J. J., Herman, G. E., Hertz-Picciotto, I., Maciel, P., Manoach, D. S., Passos-Bueno, M. R., Persico, A., Renieri, A., Sutcliffe, J. S., Tassone, F., Trabetti, E., Campos, G., Cardaropoli, S., Carli, D., Chan, M. C. Y., Fallerini, C., Giorgio, E., Girardi, A. C., Hansen-Kiss, E., Lee, S. L., Lintas, C., Ludena, Y., Nguyen, R., Pavinato, L., Pericak-Vance, M., Pessah, I. N., Schmidt, R. J., Smith, M., Costa, C. I. S., Trajkova, S., Wang, J. Y. T., M. H. C., Yu, Aleksic, B., Artomov, M., Benetti, E., Biscaldi-Schafer, M., Borglum, A. D., Carracedo, A., Chiocchetti, A. G., Coon, H., Doan, R. N., Fernandez-Prieto, M., Freitag, C. M., Gerges, S., Guter, S., Hougaard, D. M., Hultman, C. M., Jacob, S., Kaartinen, M., Kolevzon, A., Kushima, I., Lehtimaki, T., Rizzo, C. L., Maltman, N., Manara, M., Meiri, G., Menashe, I., Miller, J., Minshew, N., Mosconi, M., Ozaki, N., Palotie, A., Parellada, M., Puura, K., Reichenberg, A., Sandin, S., Scherer, S. W., Schlitt, S., Schmitt, L., Schneider-Momm, K., Siper, P. M., Suren, P., Sweeney, J. A., Teufel, K., del Pilar Trelles, M., Weiss, L. A., Yuen, R., Cutler, D. J., De Rubeis, S., Buxbaum, J. D., Daly, M. J., Devlin, B., Roeder, K., Sanders, S. J., Talkowski, M. E.
Publikováno v:
Nature genetics, vol 54, iss 9
Nature Genetics
Nature Genetics, 2022, 54 (9), pp.1320-1331. ⟨10.1038/s41588-022-01104-0⟩
Nat Genet
Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP
Nature Genetics
Nature Genetics, 2022, 54 (9), pp.1320-1331. ⟨10.1038/s41588-022-01104-0⟩
Nat Genet
Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP
International audience; Some individuals with autism spectrum disorder (ASD) carry functional mutations rarely observed in the general population. We explored the genes disrupted by these variants from joint analysis of protein-truncating variants (P
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e272fcce2991b63297b66fd9e9849ad8
http://hdl.handle.net/11562/1073647
http://hdl.handle.net/11562/1073647
Autor:
Davies, R. W., Fiksinski, A. M., Breetvelt, E. J., Williams, N. M., Hooper, S. R., Monfeuga, T., Bassett, A. S., Owen, M. J., Gur, R. E., Morrow, B. E., McDonald-McGinn, D. M., Swillen, A., Chow, E. W. C., van den Bree, M., Emanuel, B. S., Vermeesch, J. R., van Amelsvoort, T., Arango, C., Armando, M., Campbell, L. E., Cubells, J. F., Eliez, S., Garcia-Minaur, S., Gothelf, D., Kates, W. R., Murphy, K. C., Murphy, C. M., Murphy, D. G., Philip, N., Repetto, G. M., Shashi, V., Simon, T. J., Suner, D. H., Vicari, Stefano, Scherer, S. W., Epstein, M. P., Warren, S. T., Morrison, S., Chawner, S., Vingerhoets, C., Breckpot, J., Vergaelen, E., Vogels, A., Monks, S., Prasad, S. E., Sandini, C., Schneider, M., Maeder, J., Fraguas, D., Evers, R., Tassone, F., Morey-Canyelles, J., Ousley, O. Y., Antshel, K. M., Fremont, W., Fritsch, R., Ornstein, C., Daly, E. M., Costain, G. A., Boot, E., Heung, T., Crowley, T. B., Zackai, E. H., Calkins, M. E., Gur, R. C., Mccabe, K. L., Busa, T., Schoch, K., Pontillo, M., Duijff, S. N., Kahn, R. S., Houben, Mariasofia, Kushan, L., Jalbrzikowski, M., Carmel, M., Mekori-Domachevsky, E., Michaelovsky, E., Weinberger, R., Bearden, C. E., Vorstman, J. A. S.
Publikováno v:
Nature Medicine
Nature Medicine, Nature Publishing Group, 2020, 26 (12), pp.1912-1918. ⟨10.1038/s41591-020-1103-1⟩
Nature Medicine, Vol. 26, No 12 (2020) pp. 1912-1918
Nat Med
Nature medicine, vol 26, iss 12
Nature Medicine, 26(12), 1912-1918. Nature Publishing Group
Nature Medicine, Nature Publishing Group, 2020, 26 (12), pp.1912-1918. ⟨10.1038/s41591-020-1103-1⟩
Nature Medicine, Vol. 26, No 12 (2020) pp. 1912-1918
Nat Med
Nature medicine, vol 26, iss 12
Nature Medicine, 26(12), 1912-1918. Nature Publishing Group
The 22q11.2 deletion syndrome (22q11DS) is associated with a 20-25% risk of schizophrenia. In a cohort of 962 individuals with 22q11DS, we examined the shared genetic basis between schizophrenia and schizophrenia-related early trajectory phenotypes:
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fd71ba11a4a1d3c5766546a6d0c18ebb
https://hal-amu.archives-ouvertes.fr/hal-03222249
https://hal-amu.archives-ouvertes.fr/hal-03222249
Akademický článek
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Akademický článek
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Autor:
Huckins, L. M., Hatzikotoulas, K., Curtis, C., Esko, T., Espeseth, T., Estivill, X., Favaro, A., Fernández-Aranda, F., Fichter, M. M., Finan, C., Fischer, K., Floyd, J. A. B., Foretova, L., Rhodes, D., Forzan, M., Franklin, C. S., Gallinger, S., Gambaro, G., Gaspar, H. A., Giegling, I., Gonidakis, F., Gorwood, P., Gratacos, M., Guillaume, S., Moens, J., Guo, Y., Hakonarson, H., Halmi, K. A., Hauser, J., Hebebrand, J., Helder, S., Herms, S., Herpertz-Dahlmann, B., Herzog, W., Kalsi, G., Hilliard, C. E., Hinney, A., Hübel, C., Hudson, J. I., Huemer, J., Inoko, H., Janout, V., Jiménez-Murcia, S., Johnson, C., Dempster, D., Julià, A., Juréus, A., Kaminska, D., Kaplan, A. S., Kaprio, J., Karhunen, L., Karwautz, A., Kas, M. J. H., Kaye, W., Leung, R., Kennedy, J. L., Keski-Rahkonen, A., Kiezebrink, K., Klareskog, L., Klump, K. L., Knudsen, G. P. S., Koeleman, B. P. C., Koubek, D., La Via, M. C., Landén, M., Keohane, A., Le Hellard, S., Levitan, R. D., Li, D., Lichtenstein, P., Lilenfeld, L., Lissowska, J., Lundervold, A., Magistretti, P., Maj, M., Mannik, K., Burghardt, R., Marsal, S., Martin, N., Mattingsdal, M., McDevitt, S., McGuffin, P., Merl, E., Metspalu, A., Meulenbelt, I., Micali, N., Mitchell, J., Ehrlich, S., Mitchell, K., Monteleone, P., Monteleone, A. M., Mortensen, P., Munn-Chernoff, M. A., Navratilova, M., Nilsson, I., Norring, C., Ntalla, I., Ophoff, R. A., O'Toole, J. K., Palotie, A., Pante, J., Papezova, H., Pinto, D., Rabionet, R., Raevuori, A., Rajewski, A., Ramoz, N., Rayner, N. W., Southam, L., Reichborn-Kjennerud, T., Ripatti, S., Roberts, M., Rotondo, A., Rujescu, D., Rybakowski, F., Santonastaso, P., Scherag, A., Scherer, S. W., Schmidt, U., Ludolph, A., Schork, N. J., Schosser, A., Slachtova, L., Sladek, R., Slagboom, P. E., Slof-Op 't Landt, M. C. T., Slopien, A., Soranzo, N., Steen, V. M., Walton, E., Strengman, E., Strober, M., Sullivan, P. F., Szatkiewicz, J. P., Szeszenia-Dabrowska, N., Tachmazidou, I., Tenconi, E., Thornton, L. M., Tortorella, A., Tozzi, F., Deloukas, P., Treasure, J., Tsitsika, A., Tziouvas, K., van Elburg, A. A., van Furth, E. F., Wagner, G., Watson, H., Wichmann, H-E, Widen, E., Hofman, A., Woodside, D. B., Yanovski, J., Yao, S., Yilmaz, Z., Zeggini, E., Zerwas, S., Zipfel, S., Palta, P., van Rooij, F. J. A., Stirrups, K., Adan, R., Boni, C., Cone, R., Dedoussis, G., van Furth, E., Hudson, J., Kas, M., Keski-Rahonen, A., Steinberg, J., Knudsen, G-P, Raevuori, A. H., Aguilera-McKay, F., van Elburg, A., Consortium, Eating Disorder Working Group of the Psychiatric Genomics, Collier, D. A., Breen, G., Bulik, C. M., Adan, R. A. H., Alfredsson, L., Ando, T., Andreassen, O. A., Aschauer, H., Baker, J. H., Barrett, J. C., Bencko, V., Bergen, A. W., Berrettini, W. H., Birgegard, A., Boraska Perica, V., Brandt, H., Carlberg, L., Cassina, M., Cichon, S., Clementi, M., Cohen-Woods, S., Coleman, J., Cone, R. D., Gunasinghe, C., Courtet, P., Crawford, S., Crow, S., Crowley, J., Danner, U. N., Davis, O. S. P., de Zwaan, M., Degortes, D., DeSocio, J. E., Romero, A., Dick, D. M., Dikeos, D., Dina, C., Ding, B., Dmitrzak-Weglarz, M., Docampo, E., Duncan, L., Egberts, K., Escaramís, G.
Publikováno v:
Molecular Psychiatry
Molecular Psychiatry, 2017, ⟨10.1038/mp.2017.88⟩
Huckins, L M, Hatzikotoulas, K, Southam, L, Thornton, L M, Steinberg, J, Aguilera-McKay, F, Treasure, J, Schmidt, U, Gunasinghe, C, Romero, A, Rhodes, D, Moens, J, Kalsi, G, Dempster, D, Leung, R, Keohane, A, Burghardt, R, Ehrlich, S, Hebebrand, J, Hinney, A, Ludolph, A, Walton, E, Deloukas, P, Hofman, A, Palotie, A, Palta, P, van Rooij, F J A, Stirrups, K, Adan, R, Boni, C, Cone, R, Dedoussis, G, van Furth, E, Gonidakis, F, Gorwood, P, Hudson, J, Kaprio, J, Kas, M, Keski-Rahonen, A, Kiezebrink, K, Knudsen, G-P, Slof-Op 't Landt, M C T, Maj, M, Monteleone, A M, Monteleone, P, Raevuori, A H, Reichborn-Kjennerud, T, Tozzi, F, Tsitsika, A, van Elburg, A 2017, ' Investigation of common, low-frequency and rare genome-wide variation in anorexia nervosa ', Molecular Psychiatry, vol. 23, no. 5, pp. 1169-1180 . https://doi.org/10.1038/mp.2017.88
Molecular psychiatry 23, 1169–1180 (2018). doi:10.1038/mp.2017.88
Molecular Psychiatry, 23(5), 1169. Nature Publishing Group
Molecular Psychiatry, 23, 1169. Nature Publishing Group
Molecular Psychiatry, 23(5), 1169-1180. Nature Publishing Group
Molecular Psychiatry, 23, 1169-1180. Nature Publishing Group
Molecular Psychiatry, 2017, ⟨10.1038/mp.2017.88⟩
Huckins, L M, Hatzikotoulas, K, Southam, L, Thornton, L M, Steinberg, J, Aguilera-McKay, F, Treasure, J, Schmidt, U, Gunasinghe, C, Romero, A, Rhodes, D, Moens, J, Kalsi, G, Dempster, D, Leung, R, Keohane, A, Burghardt, R, Ehrlich, S, Hebebrand, J, Hinney, A, Ludolph, A, Walton, E, Deloukas, P, Hofman, A, Palotie, A, Palta, P, van Rooij, F J A, Stirrups, K, Adan, R, Boni, C, Cone, R, Dedoussis, G, van Furth, E, Gonidakis, F, Gorwood, P, Hudson, J, Kaprio, J, Kas, M, Keski-Rahonen, A, Kiezebrink, K, Knudsen, G-P, Slof-Op 't Landt, M C T, Maj, M, Monteleone, A M, Monteleone, P, Raevuori, A H, Reichborn-Kjennerud, T, Tozzi, F, Tsitsika, A, van Elburg, A 2017, ' Investigation of common, low-frequency and rare genome-wide variation in anorexia nervosa ', Molecular Psychiatry, vol. 23, no. 5, pp. 1169-1180 . https://doi.org/10.1038/mp.2017.88
Molecular psychiatry 23, 1169–1180 (2018). doi:10.1038/mp.2017.88
Molecular Psychiatry, 23(5), 1169. Nature Publishing Group
Molecular Psychiatry, 23, 1169. Nature Publishing Group
Molecular Psychiatry, 23(5), 1169-1180. Nature Publishing Group
Molecular Psychiatry, 23, 1169-1180. Nature Publishing Group
Anorexia nervosa (AN) is a complex neuropsychiatric disorder presenting with dangerously low body weight, and a deep and persistent fear of gaining weight. To date, only one genome-wide significant locus associated with AN has been identified. We per
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dd57029a7529c469de6d0d109da8ba87
https://hal.archives-ouvertes.fr/hal-01742112
https://hal.archives-ouvertes.fr/hal-01742112
Autor:
Mithal, Priyanjali, Simmons, Pamela, Cornelissen, Tessa, Wong, Horace, Pillai Riddell, Rebecca, McMurtry, C. Meghan, Burry, Lisa, Stephens, Derek, Lou, Anna, Nicolson, R., Georgiades, S., Szatmari, P., Anagnostou, E., Scherer, S. W., Choufani, S., Brudno, M., Weksberg, R.
Publikováno v:
Canadian Journal of Pain
article-version (VoR) Version of Record
Paediatrics Publications
article-version (VoR) Version of Record
Paediatrics Publications
Background Clinicians commonly advise patients to look away from the needle during vaccinations; however, this recommendation is not evidence based. Aim The aim of this study was to determine whether looking at the needle versus looking away affects
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a510f0709f857bc64b66d2fc3f53354f
https://hdl.handle.net/10214/21401
https://hdl.handle.net/10214/21401
Akademický článek
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Autor:
Boraska, V., Franklin, C. S., Floyd, J. A. B., Thornton, L. M., Huckins, L. M., Southam, L., Rayner, N. W., Tachmazidou, I., Klump, K. L., Treasure, J., Lewis, C. M., Schmidt, U., Tozzi, F., Kiezebrink, K., Hebebrand, J., Gorwood, P., Adan, R. A. H., Kas, M. J. H., Favaro, Angela, Santonastaso, Paolo, Fernández Aranda, F., Gratacos, M., Rybakowski, F., Dmitrzak Weglarz, M., Kaprio, J., Keski Rahkonen, A., Raevuori, A., Van Furth, E. F., Slof Op 't Landt, M. C. T., Hudson, J. I., Reichborn Kjennerud, T., Knudsen, G. P. S., Monteleone, P., Kaplan, A. S., Karwautz, A., Hakonarson, H., Berrettini, W. H., Guo, Y., Li, D., Schork, N. J., Komaki, G., Ando, T., Inoko, H., Esko, T., Fischer, K., Männik, K., Metspalu, A., Baker, J. H., Cone, R. D., Dackor, J., Desocio, J. E., Hilliard, C. E., O'Toole, J. K., Pantel, J., Szatkiewicz, J. P., Taico, C., Zerwas, S., Trace, S. E., Davis, O. S. P., Helder, S., Bühren, K., Burghardt, R., de Zwaan, M., Egberts, K., Ehrlich, S., Herpertz Dahlmann, B., Herzog, W., Imgart, H., Scherag, A., Scherag, S., Zipfel, S., Boni, C., Ramoz, N., Versini, A., Brandys, M. K., Danner, U. N., de Kovel, C., Hendriks, J., Koeleman, B. P. C., Ophoff, R. A., Strengman, E., van Elburg, A. A., Bruson, Alice, Clementi, Maurizio, Degortes, Daniela, Forzan, Monica, Tenconi, Elena, Docampo, E., Escaramís, G., Jiménez Murcia, S., Lissowska, J., Rajewski, A., Szeszenia Dabrowska, N., Slopien, A., Hauser, J., Karhunen, L., Meulenbelt, I., Slagboom, P. E., Tortorella, A., Maj, M., Dedoussis, G., Dikeos, D., Gonidakis, F., Tziouvas, K., Tsitsika, A., Papezova, H., Slachtova, L., Martaskova, D., Kennedy, J. L., Levitan, R. D., Yilmaz, Z., Huemer, J., Koubek, D., Merl, E., Wagner, G., Lichtenstein, P., Breen, G., Cohen Woods, S., Farmer, A., Mcguffin, P., Cichon, S., Giegling, I., Herms, S., Rujescu, D., Schreiber, S., Wichmann, H. E., Dina, C., Sladek, R., Gambaro, G., Soranzo, N., Julia, A., Marsal, S., Rabionet, R., Gaborieau, V., Dick, D. M., Palotie, A., Ripatti, S., Widén, E., Andreassen, O. A., Espeseth, T., Lundervold, A., Reinvang, I., Steen, V. M., Le Hellard, S., Mattingsdal, M., Ntalla, I., Bencko, V., Foretova, L., Janout, V., Navratilova, M., Gallinger, S., Pinto, D., Scherer, S. W., Aschauer, H., Carlberg, L., Schosser, A., Alfredsson, L., Ding, B., Klareskog, L., Padyukov, L., Courtet, P., Guillaume, S., Jaussent, I., Finan, C., Kalsi, G., Roberts, M., Logan, D. W., Peltonen, L., Ritchie, G. R. S., Barrett, J. C., Anderson, Carl A., Barrett, Jeffrey C., Floyd, James A. B., Franklin, Christopher S., Ralph, Mcginnis, Nicole, Soranzo, Eleftheria, Zeggini, Jennifer, Sambrook, Jonathan, Stephens, Ouwehand, Willem H., Mcardle, Wendy L., Ring, Susan M., Strachan, David P., Graeme, Alexander, Bulik, Cynthia M., Collier, David A., Conlon, Peter J., Anna, Dominiczak, Audrey, Duncanson, Adrian, Hill, Cordelia, Langford, Graham, Lord, Maxwell, Alexander P., Linda, Morgan, Leena, Peltonen, Sandford, Richard N., Neil, Sheerin, Vannberg, Fredrik O., Hannah, Blackburn, Wei Min Chen, Sarah, Edkins, Mathew, Gillman, Emma, Gray, Hunt, Sarah E., Suna Onengut Gumuscu, Simon, Potter, Rich, Stephen S., Douglas, Simpkin, Pamela, Whittaker, Estivill, X., Hinney, A., Sullivan, P. F., Collier, D. A., Zeggini, E., Bulik, C. M.
Publikováno v:
Dipòsit Digital de la UB
Universidad de Barcelona
Molecular Psychiatry, 19(10), 1085-1094
Molecular Psychiatry, vol. 19, no. 10, pp. 1085-1094
Molecular Psychiatry, 19(10), 1085. Nature Publishing Group
Universidad de Barcelona
Molecular Psychiatry, 19(10), 1085-1094
Molecular Psychiatry, vol. 19, no. 10, pp. 1085-1094
Molecular Psychiatry, 19(10), 1085. Nature Publishing Group
Anorexia nervosa (AN) is a complex and heritable eating disorder characterized by dangerously low body weight. Neither candidate gene studies nor an initial genome-wide association study (GWAS) have yielded significant and replicated results. We perf
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::46c74b95f9d63779c8bc250c5baa14fe
http://hdl.handle.net/11386/4579678
http://hdl.handle.net/11386/4579678