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239 results for Estivill,+Xavier

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ArticlesPeer ReviewedFull Text
Copy Number Variants and Common Disorders: Filling the Gaps and Exploring Complexity in Genome-Wide Association Studies
Author / Creator:Estivill, Xavier ; Armengol, Lluís
Publisher:United States: Public Library of Science
Journal title:PLoS genetics, 2007-10, Vol.3 (10), p.e190-1799
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Genome-wide meta-analysis identifies multiple novel associations and ethnic heterogeneity of psoriasis susceptibility
Author / Creator:Yin, Xianyong ; Low, Hui Qi ; Wang, Ling ; Li, Yonghong ; Ellinghaus, Eva ; Han, Jiali ; Estivill, Xavier ; Sun, Liangdan ; Zuo, Xianbo ; Shen, Changbing ; Zhu, Caihong ; Zhang, Anping ; Sanchez, Fabio ; Padyukov, Leonid ; Catanese, Joseph J. ; Krueger, Gerald G. ; Duffin, Kristina Callis ; Mucha, Sören ; Weichenthal, Michael ; Weidinger, Stephan ; Lieb, Wolfgang ; Foo, Jia Nee ; Li, Yi ; Sim, Karseng ; Liany, Herty ; Irwan, Ishak ; Teo, Yikying ; Theng, Colin T. S. ; Gupta, Rashmi ; Bowcock, Anne ; De Jager, Philip L. ; Qureshi, Abrar A. ; de Bakker, Paul I. W. ; Seielstad, Mark ; Liao, Wilson ; Ståhle, Mona ; Franke, Andre ; Zhang, Xuejun ; Liu, Jianjun
Publisher:London: Nature Publishing Group UK
Journal title:Nature communications, 2015-04, Vol.6 (1), p.6916-6916, Article 6916
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Circulating miRNAs, isomiRs and small RNA clusters in human plasma and breast milk
Author / Creator:Rubio, Mercedes ; Bustamante, Mariona ; Hernandez-Ferrer, Carles ; Fernandez-Orth, Dietmar ; Pantano, Lorena ; Sarria, Yaris ; Piqué-Borras, Maria ; Vellve, Kilian ; Agramunt, Silvia ; Carreras, Ramon ; Estivill, Xavier ; Gonzalez, Juan R. ; Mayor, Alfredo
Publisher:United States: Public Library of Science
Journal title:PloS one, 2018-03, Vol.13 (3), p.e0193527-e0193527
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Multi-omics signatures of the human early life exposome
Author / Creator:Maitre, Léa ; Bustamante, Mariona ; Hernández-Ferrer, Carles ; Thiel, Denise ; Lau, Chung-Ho E. ; Siskos, Alexandros P. ; Vives-Usano, Marta ; Ruiz-Arenas, Carlos ; Pelegrí-Sisó, Dolors ; Robinson, Oliver ; Mason, Dan ; Wright, John ; Cadiou, Solène ; Slama, Rémy ; Heude, Barbara ; Casas, Maribel ; Sunyer, Jordi ; Papadopoulou, Eleni Z. ; Gutzkow, Kristine B. ; Andrusaityte, Sandra ; Grazuleviciene, Regina ; Vafeiadi, Marina ; Chatzi, Leda ; Sakhi, Amrit K. ; Thomsen, Cathrine ; Tamayo, Ibon ; Nieuwenhuijsen, Mark ; Urquiza, Jose ; Borràs, Eva ; Sabidó, Eduard ; Quintela, Inés ; Carracedo, Ángel ; Estivill, Xavier ; Coen, Muireann ; González, Juan R. ; Keun, Hector C. ; Vrijheid, Martine
Publisher:London: Nature Publishing Group UK
Journal title:Nature communications, 2022-11, Vol.13 (1), p.7024-18, Article 7024
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ArticlesPeer ReviewedFull Text
miRTrace reveals the organismal origins of microRNA sequencing data
Author / Creator:Kang, Wenjing ; Eldfjell, Yrin ; Fromm, Bastian ; Estivill, Xavier ; Biryukova, Inna ; Friedländer, Marc R.
Publisher:England: BioMed Central Ltd
Journal title:Genome Biology, 2018-12, Vol.19 (1), p.213-213, Article 213
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Changes in the stool and oropharyngeal microbiome in obsessive-compulsive disorder
Author / Creator:Domènech, Laura ; Willis, Jesse ; Alemany-Navarro, Maria ; Morell, Marta ; Real, Eva ; Escaramís, Geòrgia ; Bertolín, Sara ; Sánchez Chinchilla, Daniel ; Balcells, Susanna ; Segalàs, Cinto ; Estivill, Xavier ; Menchón, Jose M. ; Gabaldón, Toni ; Alonso, Pino ; Rabionet, Raquel
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2022-01, Vol.12 (1), p.1448-1448, Article 1448
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Copy number variants and genetic traits: closer to the resolution of phenotypic to genotypic variability
Author / Creator:Beckmann, Jacques S. ; Estivill, Xavier ; Antonarakis, Stylianos E.
Publisher:London: Nature Publishing Group UK
Journal title:Nature reviews. Genetics, 2007-08, Vol.8 (8), p.639-646
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Severe Autoinflammatory Manifestations and Antibody Deficiency Due to Novel Hypermorphic PLCG2 Mutations
Author / Creator:Martín-Nalda, Andrea ; Fortuny, Claudia ; Rey, Lourdes ; Bunney, Tom D. ; Alsina, Laia ; Esteve-Solé, Ana ; Bull, Daniel ; Anton, Maria Carmen ; Basagaña, María ; Casals, Ferran ; Deyá, Angela ; García-Prat, Marina ; Gimeno, Ramon ; Juan, Manel ; Martinez-Banaclocha, Helios ; Martinez-Garcia, Juan J ; Mensa-Vilaró, Anna ; Rabionet, Raquel ; Martin-Begue, Nieves ; Rudilla, Francesc ; Yagüe, Jordi ; Estivill, Xavier ; García-Patos, Vicente ; Pujol, Ramon M. ; Soler-Palacín, Pere ; Katan, Matilda ; Pelegrín, Pablo ; Colobran, Roger ; Vicente, Asun ; Arostegui, Juan I.
Publisher:New York: Springer US
Journal title:Journal of clinical immunology, 2020-10, Vol.40 (7), p.987-1000
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Evidence for the biogenesis of more than 1,000 novel human microRNAs
Author / Creator:Friedländer, Marc R ; Lizano, Esther ; Houben, Anna JS ; Bezdan, Daniela ; Báñez-Coronel, Mónica ; Kudla, Grzegorz ; Mateu-Huertas, Elisabet ; Kagerbauer, Birgit ; González, Justo ; Chen, Kevin C ; LeProust, Emily M ; Martí, Eulàlia ; Estivill, Xavier
Publisher:England: BioMed Central Ltd
Journal title:Genome Biology (Online Edition), 2014-04, Vol.15 (4), p.R57-R57, Article R57
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Biallelic loss-of-function LACC1/FAMIN Mutations Presenting as Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Author / Creator:Rabionet, Raquel ; Remesal, Agustín ; Mensa-Vilaró, Anna ; Murías, Sara ; Alcobendas, Rosa ; González-Roca, Eva ; Ruiz-Ortiz, Estibaliz ; Antón, Jordi ; Iglesias, Estibaliz ; Modesto, Consuelo ; Comas, David ; Puig, Anna ; Drechsel, Oliver ; Ossowski, Stephan ; Yagüe, Jordi ; Merino, Rosa ; Estivill, Xavier ; Arostegui, Juan I.
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2019-03, Vol.9 (1), p.4579, Article 4579
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ArticlesPeer ReviewedFull Text
Targeting CAG repeat RNAs reduces Huntington’s disease phenotype independently of huntingtin levels
Author / Creator:Rué, Laura ; Bañez-Coronel, Mónica ; Creus-Muncunill, Jordi ; Giralt, Albert ; Alcalá-Vida, Rafael ; Mentxaka, Gartze ; Kagerbauer, Birgit ; Zomeño-Abellán, M. Teresa ; Aranda, Zeus ; Venturi, Veronica ; Pérez-Navarro, Esther ; Estivill, Xavier ; Martí, Eulàlia
Publisher:United States: American Society for Clinical Investigation
Journal title:The Journal of clinical investigation, 2016-11, Vol.126 (11), p.4319-4330
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A highly expressed miR-101 isomiR is a functional silencing small RNA
Author / Creator:Llorens, Franc ; Bañez-Coronel, Mónica ; Pantano, Lorena ; del Río, Jose Antonio ; Ferrer, Isidre ; Estivill, Xavier ; Martí, Eulàlia
Publisher:England: BioMed Central Ltd
Journal title:BMC genomics, 2013-02, Vol.14 (1), p.104-104, Article 104
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Identification of autosomal cis expression quantitative trait methylation (cis eQTMs) in children’s blood
Author / Creator:Ruiz-Arenas, Carlos ; Hernandez-Ferrer, Carles ; Vives-Usano, Marta ; Marí, Sergi ; Quintela, Ines ; Mason, Dan ; Cadiou, Solène ; Casas, Maribel ; Andrusaityte, Sandra ; Gutzkow, Kristine Bjerve ; Vafeiadi, Marina ; Wright, John ; Lepeule, Johanna ; Grazuleviciene, Regina ; Chatzi, Leda ; Carracedo, Ángel ; Estivill, Xavier ; Marti, Eulàlia ; Escaramís, Geòrgia ; Vrijheid, Martine ; González, Juan R ; Bustamante, Mariona
Publisher:England: eLife Sciences Publications Ltd
Journal title:eLife, 2022-03, Vol.11
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Genome sequencing data analysis for rare disease gene discovery
Author / Creator:Umlai, Umm-Kulthum Ismail ; Bangarusamy, Dhinoth Kumar ; Estivill, Xavier ; Jithesh, Puthen Veettil
Publisher:England: Oxford University Press
Journal title:Briefings in bioinformatics, 2022-01, Vol.23 (1)
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Association of Irisin with Fat Mass, Resting Energy Expenditure, and Daily Activity in Conditions of Extreme Body Mass Index
Author / Creator:Pardo, María ; Crujeiras, Ana B. ; Amil, María ; Aguera, Zaida ; Jiménez-Murcia, Susana ; Baños, Rosa ; Botella, Cristina ; de la Torre, Rafael ; Estivill, Xavier ; Fagundo, Ana B. ; Fernández-Real, Jose M. ; Fernández-García, José C. ; Fruhbeck, Gema ; Gómez-Ambrosi, Javier ; Rodríguez, Roser ; Tinahones, Francisco J. ; Fernández-Aranda, Fernando ; Casanueva, Felipe F.
Publisher:Cairo, Egypt: Hindawi Limiteds
Journal title:International Journal of Endocrinology, 2014-01, Vol.2014 (2014), p.949-957-200
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A Pathogenic Mechanism in Huntington's Disease Involves Small CAG-Repeated RNAs with Neurotoxic Activity
Author / Creator:Bañez-Coronel, Mónica ; Porta, Silvia ; Kagerbauer, Birgit ; Mateu-Huertas, Elisabet ; Pantano, Lorena ; Ferrer, Isidre ; Guzmán, Manuel ; Estivill, Xavier ; Martí, Eulàlia
Publisher:United States: Public Library of Science
Journal title:PLoS genetics, 2012-02, Vol.8 (2), p.e1002481
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Tying malaria and microRNAs: from the biology to future diagnostic perspectives
Author / Creator:Rubio, Mercedes ; Bassat, Quique ; Estivill, Xavier ; Mayor, Alfredo
Publisher:England: BioMed Central Ltd
Journal title:Malaria journal, 2016-03, Vol.15 (1), p.167-167, Article 167
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Global variation in copy number in the human genome
Author / Creator:Redon, Richard ; Ishikawa, Shumpei ; Fitch, Karen R. ; Feuk, Lars ; Perry, George H. ; Andrews, T. Daniel ; Fiegler, Heike ; Shapero, Michael H. ; Carson, Andrew R. ; Chen, Wenwei ; Cho, Eun Kyung ; Dallaire, Stephanie ; Freeman, Jennifer L. ; González, Juan R. ; Gratacòs, Mònica ; Huang, Jing ; Kalaitzopoulos, Dimitrios ; Komura, Daisuke ; MacDonald, Jeffrey R. ; Marshall, Christian R. ; Mei, Rui ; Montgomery, Lyndal ; Nishimura, Kunihiro ; Okamura, Kohji ; Shen, Fan ; Somerville, Martin J. ; Tchinda, Joelle ; Valsesia, Armand ; Woodwark, Cara ; Yang, Fengtang ; Zhang, Junjun ; Zerjal, Tatiana ; Zhang, Jane ; Armengol, Lluis ; Conrad, Donald F. ; Estivill, Xavier ; Tyler-Smith, Chris ; Carter, Nigel P. ; Aburatani, Hiroyuki ; Lee, Charles ; Jones, Keith W. ; Scherer, Stephen W. ; Hurles, Matthew E.
Publisher:London: Nature Publishing Group UK
Journal title:Nature, 2006-11, Vol.444 (7118), p.444-454
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Genetic Variants of the FADS Gene Cluster and ELOVL Gene Family, Colostrums LC-PUFA Levels, Breastfeeding, and Child Cognition
Author / Creator:Morales, Eva ; Bustamante, Mariona ; Gonzalez, Juan Ramon ; Guxens, Monica ; Torrent, Maties ; Mendez, Michelle ; Garcia-Esteban, Raquel ; Julvez, Jordi ; Forns, Joan ; Vrijheid, Martine ; Molto-Puigmarti, Carolina ; Lopez-Sabater, Carmen ; Estivill, Xavier ; Sunyer, Jordi
Publisher:United States: Public Library of Science
Journal title:PloS one, 2011-02, Vol.6 (2), p.e17181-e17181
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Targeted next-generation sequencing in steroid-resistant nephrotic syndrome: mutations in multiple glomerular genes may influence disease severity
Author / Creator:Bullich, Gemma ; Trujillano, Daniel ; Santín, Sheila ; Ossowski, Stephan ; Mendizábal, Santiago ; Fraga, Gloria ; Madrid, Álvaro ; Ariceta, Gema ; Ballarín, José ; Torra, Roser ; Estivill, Xavier ; Ars, Elisabet
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2015-09, Vol.23 (9), p.1192-1199
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Copy Number Variants and Common Disorders: Filling the Gaps and Exploring Complexity in Genome-Wide Association Studies

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Genome-wide meta-analysis identifies multiple novel associations and ethnic heterogeneity of psoriasis susceptibility

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Circulating miRNAs, isomiRs and small RNA clusters in human plasma and breast milk

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Multi-omics signatures of the human early life exposome

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miRTrace reveals the organismal origins of microRNA sequencing data

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Changes in the stool and oropharyngeal microbiome in obsessive-compulsive disorder

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Copy number variants and genetic traits: closer to the resolution of phenotypic to genotypic variability

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Severe Autoinflammatory Manifestations and Antibody Deficiency Due to Novel Hypermorphic PLCG2 Mutations

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Evidence for the biogenesis of more than 1,000 novel human microRNAs

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Biallelic loss-of-function LACC1/FAMIN Mutations Presenting as Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis

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Targeting CAG repeat RNAs reduces Huntington’s disease phenotype independently of huntingtin levels

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A highly expressed miR-101 isomiR is a functional silencing small RNA

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Identification of autosomal cis expression quantitative trait methylation (cis eQTMs) in children’s blood

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Genome sequencing data analysis for rare disease gene discovery

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Association of Irisin with Fat Mass, Resting Energy Expenditure, and Daily Activity in Conditions of Extreme Body Mass Index

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A Pathogenic Mechanism in Huntington's Disease Involves Small CAG-Repeated RNAs with Neurotoxic Activity

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Tying malaria and microRNAs: from the biology to future diagnostic perspectives

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Global variation in copy number in the human genome

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Genetic Variants of the FADS Gene Cluster and ELOVL Gene Family, Colostrums LC-PUFA Levels, Breastfeeding, and Child Cognition

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Targeted next-generation sequencing in steroid-resistant nephrotic syndrome: mutations in multiple glomerular genes may influence disease severity

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