Zobrazeno 1 - 10
of 38
pro vyhledávání: '"genetics [Chromosomes, Human]"'
Autor:
Pablo García-González, Itziar de Rojas, Sonia Moreno-Grau, Laura Montrreal, Raquel Puerta, Emilio Alarcón-Martín, Inés Quintela, Adela Orellana, Victor Andrade, Pamela V. Martino Adami, Stefanie Heilmann-Heimbach, Pilar Gomez-Garre, María Teresa Periñán, Ignacio Alvarez, Monica Diez-Fairen, Raul Nuñez Llaves, Claudia Olivé Roig, Guillermo Garcia-Ribas, Manuel Menéndez-González, Carmen Martínez, Miquel Aguilar, Mariateresa Buongiorno, Emilio Franco-Macías, Maria Eugenia Saez, Amanda Cano, Maria J. Bullido, Luis Miguel Real, Eloy Rodríguez-Rodríguez, Jose Luís Royo, Victoria Álvarez, Pau Pastor, Gerard Piñol-Ripoll, Pablo Mir, Miguel Calero Lara, Miguel Medina Padilla, Pascual Sánchez-Juan, Angel Carracedo, Sergi Valero, Isabel Hernandez, Lluis Tàrraga, Alfredo Ramirez, Mercé Boada, Agustín Ruiz
Publikováno v:
Scopus
International journal of molecular sciences 24(2), 898 (2023). doi:10.3390/ijms24020898
International Journal of Molecular Sciences; Volume 24; Issue 2; Pages: 898
International journal of molecular sciences 24(2), 898 (2023). doi:10.3390/ijms24020898
International Journal of Molecular Sciences; Volume 24; Issue 2; Pages: 898
Artículo escrito por un elevado número de autores, solo se referencian el que aparece en primer lugar, los autores pertenecientes a la UAM y el nombre del grupo de colaboración, si lo hubiere
Mosaic loss of chromosome Y (mLOY) is a common age
Mosaic loss of chromosome Y (mLOY) is a common age
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cc5a6cd85c1f056cbba6ec71cff05a39
http://hdl.handle.net/10651/68106
http://hdl.handle.net/10651/68106
Autor:
Bruce Pike, Masaki Fukunaga, Erik G. Jönsson, Robin M. Murray, Abdel Abdellaoui, Christopher R.K. Ching, Simon E. Fisher, Henry Brodaty, James Rucker, Gary Donohoe, Robin Bülow, Greig I. de Zubicaray, Stefan Johansson, Katrin Amunts, Katharina Wittfeld, Arvid Lundervold, Vincent Frouin, Ida E Sønderby, Tetyana Zayats, Carlos Prieto, Vince D. Calhoun, Anders M. Dale, Hilleke E. Hulshoff Pol, Tomáš Paus, Lars Nyberg, David C. Glahn, Benedicto Crespo-Facorro, Nicholas B. Blackburn, Gunter Schumann, Thomas Espeseth, Lars T. Westlye, Loes M. Olde Loohuis, Dan J. Stein, Dorret I. Boomsma, Dennis van der Meer, Stefan Ehrlich, Stephanie Le Hellard, Elena Shumskaya, Tiago Reis Marques, Manon Bernard, Nicholas G. Martin, Jan Haavik, Rachel M. Brouwer, Simone Ciufolini, Marta Di Forti, Shareefa Dalvie, Perminder S. Sachdev, Oleksandr Frei, Emma Knowles, Samuel R. Mathias, Else Eising, Ingrid Agartz, Clara Moreau, Nicola J. Armstrong, Dennis van 't Ent, Norman Delanty, Christian K. Tamnes, Evangelos Vassos, Marianne Bernadette van den Bree, Christiane Jockwitz, Magnus O. Ulfarsson, Katie L. McMahon, Allan F. McRae, Thomas W. Mühleisen, Peter R. Schofield, Sarah E. Medland, Hreinn Stefansson, David Edmund Johannes Linden, Céline S. Reinbold, Sanjay M. Sisodiya, Wei Wen, Paul M. Thompson, Jouke-Jan Hottenga, Paola Dazzan, Kari Stefansson, Alexander Teumer, Eco J. C. de Geus, Per Hoffmann, Neda Jahanshad, Jingyu Liu, Joanne E. Curran, Juan M. Peralta, Laurena Holleran, Ana I. Silva, Asta Håberg, Thomas Gareau, Karen A. Mather, Srdjan Djurovic, Lachlan T. Strike, Anbupalam Thalamuthu, Hans J. Grabe, Ryota Hashimoto, Tormod Fladby, Manon H.J. Hillegers, Tobias Kaufmann, Masataka Kikuchi, Jan Egil Nordvik, Zdenka Pausova, Omar Gustafsson, Gianpiero L. Cavalleri, Margaret J. Wright, Nynke A. Groenewold, Wiepke Cahn, Astri J. Lundervold, Michael John Owen, Diana Tordesillas-Gutiérrez, Sven Cichon, Sonja M C de Zwarte, Torgeir Moberget, Vidar M. Steen, John Blangero, Derek W. Morris, Roel A. Ophoff, Derrek P. Hibar, Andrew J. Schork, Anouk den Braber, Jayne Y. Hehir-Kwa, G. Bragi Walters, Micael Andersson, Sigrid Botne Sando, Joanne L. Doherty, Aiden Corvin, Sébastien Jacquemont, Erin Burke Quinlan, John B.J. Kwok, Anne Uhlmann, David Ames, Jean Shin, Svenja Caspers, Sylvane Desrivières, Ole A. Andreassen, Masashi Ikeda
Publikováno v:
JAMA Psychiatry, 77(4), 420-430. American Medical Association
JAMA Psychiatry
JAMA psychiatry 77(4), 420 (2020). doi:10.1001/jamapsychiatry.2019.3779
Digital.CSIC. Repositorio Institucional del CSIC
instname
JAMA psychiatry 77(4), 420-430 (2020). doi:10.1001/jamapsychiatry.2019.3779
JAMA Psychiatry, 77, 4, pp. 420-430
van der Meer, D, Abdellaoui, A, Boomsma, D I, de Geus, E J C, den Braber, A, Hottenga, J-J, van 't Ent, D, Andreassen, O A & Writing Committee for the ENIGMA-CNV Working Group 2020, ' Association of Copy Number Variation of the 15q11.2 BP1-BP2 Region With Cortical and Subcortical Morphology and Cognition ', JAMA Psychiatry, vol. 77, no. 4, pp. 420-430 . https://doi.org/10.1001/jamapsychiatry.2019.3779
JAMA Psychiatry, 77, 420-430
van der Meer, D, Sønderby, I E, Kaufmann, T, Walters, G B, Abdellaoui, A, Ames, D, Amunts, K, Andersson, M, Armstrong, N J, Bernard, M, Blackburn, N B, Blangero, J, Boomsma, D I, Brodaty, H, Brouwer, R M, Bülow, R, Cahn, W, Calhoun, V D, Caspers, S, Cavalleri, G L, Ching, C R K, Cichon, S, Ciufolini, S, Corvin, A, Crespo-Facorro, B, Curran, J E, Dalvie, S, Dazzan, P, de Geus, E J C, de Zubicaray, G I, de Zwarte, S M C, Delanty, N, den Braber, A, Desrivieres, S, di Forti, M, Doherty, J L, Donohoe, G, Ehrlich, S, Eising, E, Espeseth, T, Fisher, S E, Fladby, T, Frei, O, Frouin, V, Fukunaga, M, Gareau, T, Glahn, D C, Grabe, H J, Groenewold, N A, Gústafsson, Ó, Haavik, J, Haberg, A K, Hashimoto, R, Hehir-Kwa, J Y, Hibar, D P, Hillegers, M H J, Hoffmann, P, Holleran, L, Hottenga, J-J, Hulshoff Pol, H E, Ikeda, M, Jacquemont, S B, Jahanshad, N, Jockwitz, C, Johansson, S, Jönsson, E G, Kikuchi, M, Knowles, E E M, Kwok, J B, le Hellard, S, Linden, D E J, Liu, J, Lundervold, A, Lundervold, A J, Martin, N G, Mather, K A, Mathias, S R, McMahon, K L, McRae, A F, Medland, S E, Moberget, T, Moreau, C, Morris, D W, Mühleisen, T W, Murray, R M, Nordvik, J E, Nyberg, L, Olde Loohuis, L M, Ophoff, R A, Owen, M J, Paus, T, Pausova, Z, Peralta, J M, Pike, B, Prieto, C, Quinlan, E B, Reinbold, C L S, Reis Marques, T, Rucker, J J H, Sachdev, P S, Sando, S B, Schofield, P R, Schork, A J, Schumann, G, Shin, J, Shumskaya, E, Silva, A I, Sisodiya, S M, Steen, V M, Stein, D J, Strike, L T, Tamnes, C K, Teumer, A, Thalamuthu, A, Tordesillas-Gutiérrez, D, Uhlmann, A, Úlfarsson, M Ö, van 't Ent, D, van den Bree, M B M, Vassos, E, Wen, W, Wittfeld, K, Wright, M J, Zayats, T, Dale, A M, Djurovic, S, Agartz, I, Westlye, L T, Stefánsson, H, Stefánsson, K R, Thompson, P M & Andreassen, O A 2020, ' Association of Copy Number Variation of the 15q11.2 BP1-BP2 Region with Cortical and Subcortical Morphology and Cognition ', JAMA Psychiatry, vol. 77, no. 4, pp. 420-430 . https://doi.org/10.1001/jamapsychiatry.2019.3779
JAMA Psychiatry
JAMA psychiatry 77(4), 420 (2020). doi:10.1001/jamapsychiatry.2019.3779
Digital.CSIC. Repositorio Institucional del CSIC
instname
JAMA psychiatry 77(4), 420-430 (2020). doi:10.1001/jamapsychiatry.2019.3779
JAMA Psychiatry, 77, 4, pp. 420-430
van der Meer, D, Abdellaoui, A, Boomsma, D I, de Geus, E J C, den Braber, A, Hottenga, J-J, van 't Ent, D, Andreassen, O A & Writing Committee for the ENIGMA-CNV Working Group 2020, ' Association of Copy Number Variation of the 15q11.2 BP1-BP2 Region With Cortical and Subcortical Morphology and Cognition ', JAMA Psychiatry, vol. 77, no. 4, pp. 420-430 . https://doi.org/10.1001/jamapsychiatry.2019.3779
JAMA Psychiatry, 77, 420-430
van der Meer, D, Sønderby, I E, Kaufmann, T, Walters, G B, Abdellaoui, A, Ames, D, Amunts, K, Andersson, M, Armstrong, N J, Bernard, M, Blackburn, N B, Blangero, J, Boomsma, D I, Brodaty, H, Brouwer, R M, Bülow, R, Cahn, W, Calhoun, V D, Caspers, S, Cavalleri, G L, Ching, C R K, Cichon, S, Ciufolini, S, Corvin, A, Crespo-Facorro, B, Curran, J E, Dalvie, S, Dazzan, P, de Geus, E J C, de Zubicaray, G I, de Zwarte, S M C, Delanty, N, den Braber, A, Desrivieres, S, di Forti, M, Doherty, J L, Donohoe, G, Ehrlich, S, Eising, E, Espeseth, T, Fisher, S E, Fladby, T, Frei, O, Frouin, V, Fukunaga, M, Gareau, T, Glahn, D C, Grabe, H J, Groenewold, N A, Gústafsson, Ó, Haavik, J, Haberg, A K, Hashimoto, R, Hehir-Kwa, J Y, Hibar, D P, Hillegers, M H J, Hoffmann, P, Holleran, L, Hottenga, J-J, Hulshoff Pol, H E, Ikeda, M, Jacquemont, S B, Jahanshad, N, Jockwitz, C, Johansson, S, Jönsson, E G, Kikuchi, M, Knowles, E E M, Kwok, J B, le Hellard, S, Linden, D E J, Liu, J, Lundervold, A, Lundervold, A J, Martin, N G, Mather, K A, Mathias, S R, McMahon, K L, McRae, A F, Medland, S E, Moberget, T, Moreau, C, Morris, D W, Mühleisen, T W, Murray, R M, Nordvik, J E, Nyberg, L, Olde Loohuis, L M, Ophoff, R A, Owen, M J, Paus, T, Pausova, Z, Peralta, J M, Pike, B, Prieto, C, Quinlan, E B, Reinbold, C L S, Reis Marques, T, Rucker, J J H, Sachdev, P S, Sando, S B, Schofield, P R, Schork, A J, Schumann, G, Shin, J, Shumskaya, E, Silva, A I, Sisodiya, S M, Steen, V M, Stein, D J, Strike, L T, Tamnes, C K, Teumer, A, Thalamuthu, A, Tordesillas-Gutiérrez, D, Uhlmann, A, Úlfarsson, M Ö, van 't Ent, D, van den Bree, M B M, Vassos, E, Wen, W, Wittfeld, K, Wright, M J, Zayats, T, Dale, A M, Djurovic, S, Agartz, I, Westlye, L T, Stefánsson, H, Stefánsson, K R, Thompson, P M & Andreassen, O A 2020, ' Association of Copy Number Variation of the 15q11.2 BP1-BP2 Region with Cortical and Subcortical Morphology and Cognition ', JAMA Psychiatry, vol. 77, no. 4, pp. 420-430 . https://doi.org/10.1001/jamapsychiatry.2019.3779
ENIGMA-CNV Working Group: van der Meer, Dennis; Sonderby, Ida E; Kaufmann, Tobias; Walters, G Bragi; Abdellaoui, Abdel; Ames, David; Amunts, Katrin; Andersson, Micael; Armstrong, Nicola J; Bernard, Manon; Blackburn, Nicholas B; Blangero, John; Boomsm
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a9e1370615c6bae221f0c55617c009c1
https://doi.org/10.1001/jamapsychiatry.2019.3779
https://doi.org/10.1001/jamapsychiatry.2019.3779
Autor:
Alexandre Reymond, Borja Rodriguez-Herreros, Stefan Ehrlich, Tiago Reis Marques, Roberto Roiz-Santiañez, Barbara Franke, Henry Brodaty, Ryota Hashimoto, Tobias Kaufmann, Thomas Gareau, Gary Donohoe, Masataka Kikuchi, David Ames, Greig I. de Zubicaray, Vince D. Calhoun, Zdenka Pausova, Anouk den Braber, Laurena Holleran, Katharina Wittfeld, Roel A. Ophoff, G. Bragi Walters, Sandra Martin-Brevet, Karen A. Mather, Dan J. Stein, Costin Leu, Rachel M. Brouwer, Norman Delanty, Nicholas G. Martin, Arvid Lundervold, Jean Shin, Geneviève Richard, Dorret I. Boomsma, Gudrun A. Jonsdottir, Emma Knowles, Margie Wright, Magnus O. Ulfarsson, Yunpeng Wang, Thomas W. Mühleisen, Vincent Frouin, Andrew J. Schork, Peter R. Schofield, Michael Andersson, Katrin Amunts, Hans J. Grabe, Wei Wen, Manon Bernard, James Rucker, Anbu Thalamuthu, Hans-Richard Brattbak, Joanne E. Curran, Hidenaga Yamamori, Bruce Pike, Brenda W.J.H. Penninx, Derek W. Morris, Masaki Fukunaga, Aiden Corvin, René S. Kahn, John Blangero, Yuri Milaneschi, Nynke A. Groenewold, Mark McCormack, Allan F. McRae, Clara Moreau, Gunter Schumann, Robin M. Murray, Bogdan Draganski, Simone Ciufolini, Carlos Prieto, Diana Tordesillas-Gutiérrez, Astri J. Lundervold, Sinead Kelly, Simon E. Fisher, Erik G. Jönsson, Stefan Johansson, Neda Jahanshad, Elena Shumskaya, Christopher D. Whelan, Tomáš Paus, Evangelos Vassos, Tetyana Zayats, Sébastien Jacquemont, Benedicto Crespo-Facorro, Erin Burke Quinlan, Anja Vaskinn, Ingrid Agartz, Knut K. Kolskår, Robin Bülow, Alexander Teumer, Sven Cichon, Neeltje E.M. van Haren, Jayne Y. Hehir-Kwa, Anders M. Dale, Nhat Trung Doan, Stephanie Le Hellard, John B.J. Kwok, Lars Nyberg, Sigrid Botne Sando, Omar Gustafsson, Gianpiero L. Cavalleri, Andreas Heinz, Ida E Sønderby, Sonja M C de Zwarte, Hreinn Stefansson, Derrek P. Hibar, Daniel Quintana, Vidar M. Steen, Jouke-Jan Hottenga, Paola Dazzan, David C. Glahn, Shareefa Dalvie, Lars T. Westlye, Nicholas B. Blackburn, Loes M. Olde Loohuis, Kari Stefansson, Dennis van der Meer, Lianne Schmaal, Anne Uhlmann, Nicola J. Armstrong, Stacy Steinberg, Christiane Jockwitz, Jarek Rokicki, Hilleke E Hulshoff, Sanjay M. Sisodiya, Anne-Marthe Sanders, Jan Haavik, Perminder S. Sachdev, Asta Håberg, Samuel R. Mathias, Dennis van 't Ent, Torill Ueland, Per Hoffmann, Terry L. Jernigan, Abdel Abdellaoui, Svenja Caspers, Sylvane Desrivières, Ole A. Andreassen, Masashi Ikeda, Paul M. Thompson, Eco J. C. de Geus, Céline S. Reinbold, Jingyu Liu, Juan M. Peralta, Sara Pudas, Jan Egil Nordvik, Srdjan Djurovic, David Mothersill, Lachlan T. Strike, Chi-Hua Chen, Jessica A. Turner, Manon H.J. Hillegers, Thomas Espeseth, Janita Bralten, Katie L. McMahon
Publikováno v:
Molecular Psychiatry
2020, ' Dose response of the 16p11.2 distal copy number variant on intracranial volume and basal ganglia ', Molecular Psychiatry, vol. 25, no. 3, pp. 584-602 . https://doi.org/10.1038/s41380-018-0118-1
Molecular Psychiatry, 25, 584-602. Nature Publishing Group
Molecular Psychiatry, 25, 3, pp. 584-602
Molecular psychiatry, vol. 25, no. 3, pp. 584-602
Molecular Psychiatry, 25, 584-602
Molecular Psychiatry, 25(3), 584-602. Nature Publishing Group
Molecular Psychiatry, 25, pp. 584-602
Molecular psychiatry 25(3), 584-602 (2020). doi:10.1038/s41380-018-0118-1
Sønderby, I E, Andreassen, O A, Abdellaoui, A, Boomsma, D I, de Geus, E JC, den Braber, A, Hottenga, J J, W J H Penninx, B, Milaneschi, Y, van t Ent, D & ENIGMA-CNV working group 2020, ' Dose response of the 16p11.2 distal copy number variant on intracranial volume and basal ganglia ', Molecular Psychiatry, vol. 25, pp. 584-602 . https://doi.org/10.1038/s41380-018-0118-1
ENIGMA-CNV working group 2020, ' Dose response of the 16p11.2 distal copy number variant on intracranial volume and basal ganglia ', Molecular Psychiatry, vol. 25, no. 3, pp. 584-602 . https://doi.org/10.1038/s41380-018-0118-1
2020, ' Dose response of the 16p11.2 distal copy number variant on intracranial volume and basal ganglia ', Molecular Psychiatry, vol. 25, no. 3, pp. 584-602 . https://doi.org/10.1038/s41380-018-0118-1
Molecular Psychiatry, 25, 584-602. Nature Publishing Group
Molecular Psychiatry, 25, 3, pp. 584-602
Molecular psychiatry, vol. 25, no. 3, pp. 584-602
Molecular Psychiatry, 25, 584-602
Molecular Psychiatry, 25(3), 584-602. Nature Publishing Group
Molecular Psychiatry, 25, pp. 584-602
Molecular psychiatry 25(3), 584-602 (2020). doi:10.1038/s41380-018-0118-1
Sønderby, I E, Andreassen, O A, Abdellaoui, A, Boomsma, D I, de Geus, E JC, den Braber, A, Hottenga, J J, W J H Penninx, B, Milaneschi, Y, van t Ent, D & ENIGMA-CNV working group 2020, ' Dose response of the 16p11.2 distal copy number variant on intracranial volume and basal ganglia ', Molecular Psychiatry, vol. 25, pp. 584-602 . https://doi.org/10.1038/s41380-018-0118-1
ENIGMA-CNV working group 2020, ' Dose response of the 16p11.2 distal copy number variant on intracranial volume and basal ganglia ', Molecular Psychiatry, vol. 25, no. 3, pp. 584-602 . https://doi.org/10.1038/s41380-018-0118-1
Publisher's version (útgefin grein)
Carriers of large recurrent copy number variants (CNVs) have a higher risk of developing neurodevelopmental disorders. The 16p11.2 distal CNV predisposes carriers to e.g., autism spectrum disorder and schizop
Carriers of large recurrent copy number variants (CNVs) have a higher risk of developing neurodevelopmental disorders. The 16p11.2 distal CNV predisposes carriers to e.g., autism spectrum disorder and schizop
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8892573af184bdde7b49c9035bbb920d
https://doi.org/10.1038/s41380-018-0118-1
https://doi.org/10.1038/s41380-018-0118-1
Autor:
Sarah Jesse, Jan Philipp Delling, Michael Schön, Tobias M Boeckers, Albert Ludolph, Makbule Senel
Publikováno v:
International Journal of Molecular Sciences
International journal of molecular sciences 22(5), 2311-(2021). doi:10.3390/ijms22052311
International Journal of Molecular Sciences, Vol 22, Iss 2311, p 2311 (2021)
International journal of molecular sciences 22(5), 2311-(2021). doi:10.3390/ijms22052311
International Journal of Molecular Sciences, Vol 22, Iss 2311, p 2311 (2021)
Phelan McDermid syndrome (PMcD) is a neurogenetic disease associated with haploinsufficiency of the SHANK3 gene due to a spectrum of anomalies in the terminal region of the long arm of chromosome 22. SHANK3 is the abbreviation for SH3 domain and anky
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::fa28aed9b4bc7c3c433de629e7ebee62
http://europepmc.org/articles/PMC7956287
http://europepmc.org/articles/PMC7956287
Autor:
Clifton L. Dalgard, Ruth Chia, Claire Troakes, Steve M. Gentleman, Yaroslau Compta, John C. van Swieten, Owen A. Ross, Ellen Gelpi, Michele T.M. Hu, Alistair Church, James B. Rowe, Alex Rajput, Sonja W. Scholz, Raffaele Ferrari, Liana S. Rosenthal, Regina H. Reynolds, Sigrun Roeber, Thomas T. Warner, Jinhui Ding, Leslie W. Ferguson, Cornelis Blauwendraat, Edwin Jabbari, Kieren Allinson, Safa Al-Sarraj, P. Nigel Leigh, Thomas Arzberger, J. Raphael Gibbs, Gesine Respondek, Huw R. Morris, Rebecca R. Valentino, Maryam Shoai, Christopher Morris, Kin Y. Mok, Christopher Kobylecki, Mark R. Cookson, Adam L. Boxer, Janice L. Holton, Zane Jaunmuktane, Alexander Gerhard, Armin Giese, Coralie Viollet, David J. Burn, Dennis W. Dickson, Bryan J. Traynor, Nicola Pavese, Shunsuke Koga, Olga Pletnikova, Günter U. Höglinger, John Hardy, David Murphy, Tamas Revesz, Alexander Pantelyat, Andrew J. Lees, Juan C. Troncoso, Mina Ryten, Manuela Tan
Publikováno v:
The lancet / Neurology 20(2), 107-116 (2021). doi:10.1016/S1474-4422(20)30394-X
Summary Background The genetic basis of variation in the progression of primary tauopathies has not been determined. We aimed to identify genetic determinants of survival in progressive supranuclear palsy (PSP). Methods In stage one of this two stage
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::57ef99c4d1bc3d87ec7074cf3ccfcb9b
https://www.repository.cam.ac.uk/handle/1810/316564
https://www.repository.cam.ac.uk/handle/1810/316564
Autor:
Peter Vajkoczy, Leonille Schweizer, Franziska Eckert, Katharina Filipski, David Kaul, Georgios Ntoulias, Ulrich Schüller, Arend Koch, Frank L. Heppner, Felix Thierfelder, Julia Onken, Hee-Yeong Kim, Sven-Axel May, Patrick N. Harter, Dominic Edelmann, Michael Müther, David Capper, Christian Thomas, Carola Geiler, Werner Paulus, Martin Hasselblatt, Malte Träger, Alexandra Förster, Patrick Soschinski, Jens Schittenhelm, Walter Stummer
Publikováno v:
Acta neuropathologica 141(6), 959-970 (2021). doi:10.1007/s00401-021-02300-8
Acta Neuropathologica
Acta Neuropathologica
Subependymomas are benign tumors characteristically encountered in the posterior fossa of adults that show distinct epigenetic profiles assigned to the molecular group “subependymoma, posterior fossa” (PFSE) of the recently established DNA methyl
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::404c70d44576d8d840dcefd5f3d59eec
https://doi.org/10.17169/refubium-39497
https://doi.org/10.17169/refubium-39497
Autor:
Jesse, Sarah, Müller, Hans‐Peter, Schoen, Michael, Asoglu, Harun, Bockmann, Juergen, Huppertz, Hans‐Juergen, Rasche, Volker, Ludolph, Albert C., Boeckers, Tobias M., Kassubek, Jan
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 7, Iss 1, Pp 46-58 (2020)
Annals of Clinical and Translational Neurology
Annals of Clinical and Translational Neurology 7(1), 46-58 (2019). doi:10.1002/acn3.50959
Annals of Clinical and Translational Neurology
Annals of Clinical and Translational Neurology 7(1), 46-58 (2019). doi:10.1002/acn3.50959
Objective Heterozygous SHANK3 mutations or partial deletions of the long arm of chromosome 22, also known as Phelan–McDermid syndrome, result in a syndromic form of the autism spectrum as well as in global developmental delay, intellectual disabili
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::890d464721db1e01600b653e2d75b2fd
Publikováno v:
Journal of neurology 266(3), 775-776 (2019). doi:10.1007/s00415-019-09182-7
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::00071256b390b35323a74015fd35263e
https://doi.org/10.1007/s00415-019-09182-7
https://doi.org/10.1007/s00415-019-09182-7
Autor:
Fernando Rivadeneira, M. Arfan Ikram, Jens Wiltfang, Frank Hentschel, Monique M.B. Breteler, Frank Jessen, Reinhard Heun, Peter J. Koudstaal, Oliver Peters, Eckart Rüther, Heike Kölsch, Albert Hofman, Johannes Kornhuber, Elisabeth M. C. Schrijvers, Wolfgang Maier, Martin Dichgans, Cornelia M. van Duijn, André G. Uitterlinden, Steffi G. Riedel-Heller, Hendrik van den Bussche, Britta Schürmann
Publikováno v:
Stroke, 43(2), 315-319. Lippincott Williams & Wilkins
Stroke 43(2), 315-319 (2012). doi:10.1161/STROKEAHA.111.628768
Stroke 43(2), 315-319 (2012). doi:10.1161/STROKEAHA.111.628768
Background and Purpose— Most studies investigating the genetics of dementia have focused on Alzheimer disease, but little is known about the genetics of vascular dementia. The aim of our study was to identify new loci associated with vascular demen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::55280d7424ae19920dafdb42ee0893f2
https://pure.eur.nl/en/publications/b39ac087-3f29-4998-bac5-5823ea8e4c0b
https://pure.eur.nl/en/publications/b39ac087-3f29-4998-bac5-5823ea8e4c0b
Autor:
Julie A. Marsh, Meike W. Vernooij, Nicholas J. Timpson, Linda S. Adair, Maksim Struchalin, Kelly S. Benke, Alex P. Zijdenbos, Wiro J. Niessen, Dexter Hadley, André Scherag, Niina Siitonen, Johannes Hedebrand, Helena Schmidt, Iona Y. Millwood, Emily Oken, David S. Knopman, James F. Wilson, H. Rob Taal, Henri A. Vrooman, Karen L. Mohlke, Myriam Fornage, Vilmundur Gudnason, Leslie A. Lange, Sigurdur Sigurdsson, Maria M. Groen-Blokhuis, Diane J. Catellier, Stefan Ropele, Seang Mei Saw, Sylvain Sebert, Alexa S. Beiser, Lyle J. Palmer, Claudia Flexeder, Paul Elliott, George Davey Smith, John W. Holloway, Michel G. Nivard, Mike A. Nalls, Albert V. Smith, Cyrus Cooper, E Zeggini, Terho Lehtimäki, Struan F.A. Grant, Virpi Lindi, Romy Gaillard, B. Gwen Windham, Dennis O. Mook-Kanamori, Claus Holst, Timo A. Lakka, Stéphanie Debette, Liang Kee Goh, Ewan R. Pearson, Tamara B. Harris, Momoko Horikoshi, Jeffrey C. Murray, Mirna Kirin, M. Arfan Ikram, George V. Dedoussis, Anita L. DeStefano, Clifford R. Jack, Alex Lewin, Reedik Maggi, Vincent W. V. Jaddoe, Haukur Gudnason, Hakon Hakonarson, Thomas H. Mosley, Alina Rodriguez, Sudha Seshadri, William M. Meeks, Philip A. Wolf, Gonneke Willemsen, B. Valcarcel, Anke Hinney, Eric A.P. Steegers, Lenore J. Launer, Elina Hyppönen, Lachlan J. M. Coin, Elisabeth Thiering, Mustafa Atalay, W. T. Longstreth, Thorkild I. A. Sørensen, André G. Uitterlinden, Christel M. Middeldorp, Matthew W. Gillman, Ken K. Ong, Oliver S. P. Davis, Monique M.B. Breteler, Wei Ang, Ulla Sovio, Tuomas O. Kilpeläinen, Ioanna Ntalla, Marjo-Riitta Järvelin, Aad van der Lugt, Cornelia M. van Duijn, Cecilia M. Lindgren, Rany M. Salem, Laura H. Coker, Craig E. Pennell, Fernando Rivadeneira, Thomas S. Price, Charles DeCarli, Dorret I. Boomsma, Ellen Aagaard Nohr, Diane Berry, Rhoda Au, Yik Y. Teo, Ville Huikari, Jouke-Jan Hottenga, Matthew Kowgier, Joachim Heinrich, Nienke E. Bergen, Beate St Pourcain, Reinhold Schmidt, C Power, Kalliope Panoutsopoulou, Olli T. Raitakari, Albert Hofman, Mark I. McCarthy, Joel N. Hirschhorn, Olli Simell, Claire M. A. Haworth, Mark A. van Buchem, Anna-Liisa Hartikainen, Berthold Hocher, Debbie A Lawlor, Jennifer Pararajasingham, Toos C. E. M. van Beijsterveldt, David P. Strachan, Hanna Maaria Lakka, Timothy M. Frayling
Publikováno v:
Nature Genetics
Nature Genetics, 44(5), 539
Ikram, M A, Fornage, M, Smith, A V, Seshadri, S, Schmidt, R, Debette, S, Vrooman, H A, Sigurdsson, S, Ropele, S, Taal, H R, Mook-Kanamori, D O, Coker, L H, Longstreth, W T, Niessen, W J, DeStefano, A L, Beiser, A, Zijdenbos, A P, Struchalin, M, Jack, C R, Rivadeneira, F, Uitterlinden, A G, Knopman, D S, Hartikainen, A-L, Pennell, C E, Thiering, E, Steegers, E A P, Hakonarson, H, Heinrich, J, Palmer, L J, Jarvelin, M-R, McCarthy, M I, Grant, S F A, St Pourcain, B, Timpson, N J, Smith, G D, Sovio, U, Nalls, M A, Au, R, Hofman, A, Gudnason, H, van der Lugt, A, Harris, T B, Meeks, W M, Vernooij, M W, van Buchem, M A, Catellier, D, Jaddoe, V W V, Gudnason, V & Windham, B G & Wilson, J F 2012, ' Common variants at 6q22 and 17q21 are associated with intracranial volume ', Nature Genetics, vol. 44, no. 5, pp. 539-+ . https://doi.org/10.1038/ng.2245
Nature Genetics, 44(5), 539-544. Nature Publishing Group
Nature Genetics; Vol 44
Nature Genetics, 44(5), 539-+. Nature Publishing Group
Arfan Ikram, M, Fornage, M, Smith, A V, Seshadri, S, Schmidt, R, Debette, S, Vrooman, H A, Sigurdsson, S, Ropele, S, Taal, H R, Mook-Kanamori, D O, Coker, L H, Longstreth, J W T, Niessen, W J, DeStefano, A L, Beiser, A, Zijdenbos, A P, Struchalin, M, Jack, C R, Rivadeneira, F, Uitterlinden, A G, Knopman, D S, Hartikainen, A-L, Pennell, C E, Thiering, E, Steegers, E A P, Hakonarson, H, Heinrich, J, Palmer, L J, Jarvelin, M-R, McCarthy, M I, Grant, S F A, St Pourcain, B, Timpson, N J, Smith, G D, Sovio, U, van Beijsterveldt, C E M, Groen-Blokhuis, M M, Hottenga, J J, Middeldorp, C M, Nivard, M G, Willemsen, G, Boomsma, D I, Nalls, M A, Au, R, Hofman, A, Gudnason, H, van der Lugt, A, Harris, T B, Meeks, W M, Vernooij, M W, van Buchem, M A, Catellier, D, Jaddoe, V W V, Gudnason, V, Windham, B G, Wolf, P A, van Duijn, C M, Mosley, T H, Schmidt, H, Launer, L J, Breteler, M M B & DeCarli, C S 2012, ' Common variants at 6q22 and 17q21 are associated with intracranial volume ', Nature Genetics, vol. 44, no. 5, pp. 539-544 . https://doi.org/10.1038/ng.2245
Nature genetics 44(5), 539-544 (2012). doi:10.1038/ng.2245
Nature Genetics, 44(5), 539
Ikram, M A, Fornage, M, Smith, A V, Seshadri, S, Schmidt, R, Debette, S, Vrooman, H A, Sigurdsson, S, Ropele, S, Taal, H R, Mook-Kanamori, D O, Coker, L H, Longstreth, W T, Niessen, W J, DeStefano, A L, Beiser, A, Zijdenbos, A P, Struchalin, M, Jack, C R, Rivadeneira, F, Uitterlinden, A G, Knopman, D S, Hartikainen, A-L, Pennell, C E, Thiering, E, Steegers, E A P, Hakonarson, H, Heinrich, J, Palmer, L J, Jarvelin, M-R, McCarthy, M I, Grant, S F A, St Pourcain, B, Timpson, N J, Smith, G D, Sovio, U, Nalls, M A, Au, R, Hofman, A, Gudnason, H, van der Lugt, A, Harris, T B, Meeks, W M, Vernooij, M W, van Buchem, M A, Catellier, D, Jaddoe, V W V, Gudnason, V & Windham, B G & Wilson, J F 2012, ' Common variants at 6q22 and 17q21 are associated with intracranial volume ', Nature Genetics, vol. 44, no. 5, pp. 539-+ . https://doi.org/10.1038/ng.2245
Nature Genetics, 44(5), 539-544. Nature Publishing Group
Nature Genetics; Vol 44
Nature Genetics, 44(5), 539-+. Nature Publishing Group
Arfan Ikram, M, Fornage, M, Smith, A V, Seshadri, S, Schmidt, R, Debette, S, Vrooman, H A, Sigurdsson, S, Ropele, S, Taal, H R, Mook-Kanamori, D O, Coker, L H, Longstreth, J W T, Niessen, W J, DeStefano, A L, Beiser, A, Zijdenbos, A P, Struchalin, M, Jack, C R, Rivadeneira, F, Uitterlinden, A G, Knopman, D S, Hartikainen, A-L, Pennell, C E, Thiering, E, Steegers, E A P, Hakonarson, H, Heinrich, J, Palmer, L J, Jarvelin, M-R, McCarthy, M I, Grant, S F A, St Pourcain, B, Timpson, N J, Smith, G D, Sovio, U, van Beijsterveldt, C E M, Groen-Blokhuis, M M, Hottenga, J J, Middeldorp, C M, Nivard, M G, Willemsen, G, Boomsma, D I, Nalls, M A, Au, R, Hofman, A, Gudnason, H, van der Lugt, A, Harris, T B, Meeks, W M, Vernooij, M W, van Buchem, M A, Catellier, D, Jaddoe, V W V, Gudnason, V, Windham, B G, Wolf, P A, van Duijn, C M, Mosley, T H, Schmidt, H, Launer, L J, Breteler, M M B & DeCarli, C S 2012, ' Common variants at 6q22 and 17q21 are associated with intracranial volume ', Nature Genetics, vol. 44, no. 5, pp. 539-544 . https://doi.org/10.1038/ng.2245
Nature genetics 44(5), 539-544 (2012). doi:10.1038/ng.2245
During aging, intracranial volume remains unchanged and represents maximally attained brain size, while various interacting biological phenomena lead to brain volume loss. Consequently, intracranial volume and brain volume in late life reflect differ
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::62d6054f0dfc1871406dd0e078ab45e5