dc.contributor | Vall d'Hebron Barcelona Hospital Campus |
dc.contributor.author | Urbizu, Aintzane |
dc.contributor.author | Garrett, Melanie E. |
dc.contributor.author | Soldano, Karen |
dc.contributor.author | Drechsel, Oliver |
dc.contributor.author | Loth, Dorothy |
dc.contributor.author | Marcé Grau, Anna |
dc.contributor.author | Poca Pastor, Ma Antonia |
dc.contributor.author | Macaya Ruíz, Alfons |
dc.contributor.author | Mestres Soler, Olga |
dc.date.accessioned | 2021-12-27T13:26:10Z |
dc.date.available | 2021-12-27T13:26:10Z |
dc.date.issued | 2021-05-11 |
dc.identifier.citation | Urbizu A, Garrett ME, Soldano K, Drechsel O, Loth D, Marcé-Grau A, et al. Rare functional genetic variants in COL7A1, COL6A5, COL1A2 and COL5A2 frequently occur in Chiari Malformation Type 1. PLoS One. 2021 May 11;16(5):e0251289. |
dc.identifier.issn | 1932-6203 |
dc.identifier.uri | https://hdl.handle.net/11351/6738 |
dc.description | Seqüenciació de gens; Genòmica; Imatges per ressonància magnètica |
dc.description.sponsorship | This work was supported by a grant from Conquer Chiari to AAK. Collection of the Chiari1000 study participants utilized in this study was supported by a grant from Conquer Chiari to FL at University of Akron. Collection of the Duke study participants utilized in this study was supported by a grant from the National Institutes of Health (NS063273). A.U. was the recipient of a Postdoctoral Fellowship from Fundación Ramón Areces (Spain). RL is the Executive Director of Conquer Chiari which provided some of the funding for this work. For the manuscript, he assisted with revising and editing the manuscript. The funders did have a role in study design, but had no role in data collection and analysis, decision to publish, or preparation of the manuscript. |
dc.language.iso | eng |
dc.publisher | Public Library Science |
dc.relation.ispartofseries | PLoS One;16(5) |
dc.rights | Attribution 4.0 International |
dc.rights.uri | http://creativecommons.org/licenses/by/4.0/ |
dc.source | Scientia |
dc.subject | Tub neural - Malformacions |
dc.subject | Genòmica |
dc.subject.mesh | Arnold-Chiari Malformation |
dc.subject.mesh | /genetics |
dc.subject.mesh | Genetic Variation |
dc.title | Rare functional genetic variants in COL7A1, COL6A5, COL1A2 and COL5A2 frequently occur in Chiari Malformation Type 1 |
dc.type | info:eu-repo/semantics/article |
dc.identifier.doi | 10.1371/journal.pone.0251289 |
dc.subject.decs | malformación de Arnold-Chiari |
dc.subject.decs | /genética |
dc.subject.decs | variación genética |
dc.relation.publishversion | https://doi.org/10.1371/journal.pone.0251289 |
dc.type.version | info:eu-repo/semantics/publishedVersion |
dc.audience | Professionals |
dc.contributor.organismes | Institut Català de la Salut |
dc.contributor.authoraffiliation | [Urbizu A] Duke Molecular Physiology Institute, Duke University Medical Center, Durham, NC, United States of America. Grup de Recerca en Neurologia Pediàtrica, Vall d’Hebron Institut de Recerca (VHIR), Barcelona, Spain. [Garrett ME, Soldano K] Duke Molecular Physiology Institute, Duke University Medical Center, Durham, NC, United States of America. [Drechsel O] Genomic and Epigenomic Variation in Disease Group, Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology, Barcelona, Spain. Universitat Pompeu Fabra, Barcelona, Spain. [Loth D] Department of Psychology, Conquer Chiari Research Center, University of Akron, Akron, OH, United States of America. [Marcé-Grau A, Macaya A] Grup de Recerca en Neurologia Pediàtrica, Vall d’Hebron Institut de Recerca (VHIR), Barcelona, Spain. [Mestres I Soler O] Unitat de Recerca en Neurotraumatologia i Neurocirurgia, Vall d’Hebron Institut de Recerca (VHIR), Barcelona, Spain. Universitat Autònoma de Barcelona, Bellaterra, Spain. [Poca MA] Unitat de Recerca en Neurotraumatologia i Neurocirurgia, Vall d’Hebron Institut de Recerca (VHIR), Barcelona, Spain. Universitat Autònoma de Barcelona, Bellaterra, Spain. Servei de Neurocirurgia, Vall d’Hebron Hospital Universitari, Barcelona, Spain. Universitat Autònoma de Barcelona, Bellaterra, Spain |
dc.identifier.pmid | 33974636 |
dc.identifier.wos | 000664626600028 |
dc.rights.accessrights | info:eu-repo/semantics/openAccess |