Publications by authors named "Anna Fernández"

64Publications

The effects of cohousing model on people's health and wellbeing: a scoping review.

Public Health Rev 2020 6;41:22. Epub 2020 Oct 6.

Agència de Salut Pública de Barcelona, Pl. Lesseps 1, 08023 Barcelona, Spain.

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October 2020

De Novo Variants in LMNB1 Cause Pronounced Syndromic Microcephaly and Disruption of Nuclear Envelope Integrity.

Am J Hum Genet 2020 10 9;107(4):753-762. Epub 2020 Sep 9.

Center for Human Genetics, University Hospitals Leuven, Herestraat 49, 3000 Leuven, Belgium; Laboratory for the Genetics of Cognition, Department of Human Genetics, KU Leuven, Herestraat 49, 3000 Leuven, Belgium. Electronic address:

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October 2020

Impacts of Compost Bedded Pack Barns on the Welfare and Comfort of Dairy Cows.

Animals (Basel) 2020 Mar 4;10(3). Epub 2020 Mar 4.

Animal Nutrition and Welfare Service, Department of Animal and Food Science, Facultat de Veterinària, Universitat Autònoma de Barcelona, Bellaterra, 08193 Barcelona, Spain.

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March 2020

Validation of an in Vitro Mismatch Repair Assay Used in the Functional Characterization of Mismatch Repair Variants.

J Mol Diagn 2020 03 25;22(3):376-385. Epub 2019 Dec 25.

Hereditary Cancer Program, the Catalan Institute of Oncology (ICO), Hereditary Cancer Group, Molecular Mechanisms and Experimental Therapy in Oncology Program, Institut d'Investigació Biomèdica de Bellvitge (IDIBELL), Ciber Oncología (CIBERONC) Instituto Salud Carlos III, L'Hospitalet de Llobregat, Barcelona, Spain. Electronic address:

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March 2020

Highly sensitive MLH1 methylation analysis in blood identifies a cancer patient with low-level mosaic MLH1 epimutation.

Clin Epigenetics 2019 11 28;11(1):171. Epub 2019 Nov 28.

Hereditary Cancer Program, Catalan Institute of Oncology, Institut d'Investigació Biomèdica de Bellvitge (IDIBELL), ONCOBELL Program, Av. Gran Via de l'Hospitalet, 199-203, 08908 L' Hospitalet de Llobregat, Barcelona, Spain.

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November 2019

Primary constitutional MLH1 epimutations: a focal epigenetic event.

Br J Cancer 2018 10 4;119(8):978-987. Epub 2018 Oct 4.

Hereditary Cancer Program, Catalan Institute of Oncology-Bellvitge Biomedical Research Institute (ICO-IDIBELL),ONCOBELL, CIBERONC, Av.Gran Via de l'Hospitalet 199-203, L'Hospitalet de Llobregat, 08908, Barcelona, Spain.

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October 2018

Molecular autopsy in a cohort of infants died suddenly at rest.

Forensic Sci Int Genet 2018 11 31;37:54-63. Epub 2018 Jul 31.

Cardiovascular Genetics Center, University of Girona-IDIBGI, Girona, Spain; Medical Science Department, School of Medicine, University of Girona, Girona, Spain; Centro de Investigación Biomédica en Red de Enfermedades Cardiovasculares (CIBERCV), Spain; Cardiology Service, Hospital Josep Trueta, Girona, Spain. Electronic address:

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November 2018

Sudden Arrhythmic Death During Exercise: A Post-Mortem Genetic Analysis.

Sports Med 2017 Oct;47(10):2101-2115

Cardiovascular Genetics Center, Institut d'Investigació Biomèdica Girona (IDIBGI), University of Girona, C/Dr Castany s/n, Parc Hospitalari Martí i Julià (M-2), Salt, 17190, Girona, Spain.

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October 2017

Mitochondrial GSH replenishment as a potential therapeutic approach for Niemann Pick type C disease.

Redox Biol 2017 04 20;11:60-72. Epub 2016 Nov 20.

Cell Death and Proliferation, Institute of Biomedical Research of Barcelona (IIBB), CSIC, Barcelona, Spain; Liver Unit, Hospital Clinic I Provincial de Barcelona, IDIBAPS and CIBERehd, Barcelona, Spain; Research Center for ALPD, Keck School of Medicine, University of Southern California, Los Angeles, CA, United States. Electronic address:

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April 2017

Modulation of Autophagy by Sorafenib: Effects on Treatment Response.

Front Pharmacol 2016 8;7:151. Epub 2016 Jun 8.

Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas (CIBERehd)León, Spain; Institute of Biomedicine (IBIOMED), University of LeónLeón, Spain.

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July 2016

Sudden infant death syndrome caused by cardiac arrhythmias: only a matter of genes encoding ion channels?

Int J Legal Med 2016 Mar 12;130(2):415-20. Epub 2016 Feb 12.

Cardiovascular Genetics Center, University of Girona-IDIBGI, Girona, Spain.

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March 2016

Identification of blood meals in field captured sand flies by a PCR-RFLP approach based on cytochrome b gene.

Acta Trop 2015 Dec 3;152:96-102. Epub 2015 Sep 3.

Unidad de Entomología Médica, Servicio de Parasitología, Centro Nacional de Microbiología, Instituto de Salud Carlos III, Ctra. Majadahonda-Pozuelo s/n, 28220 Majadahonda, Madrid, Spain. Electronic address:

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December 2015

Melatonin and endoplasmic reticulum stress: relation to autophagy and apoptosis.

J Pineal Res 2015 Oct 9;59(3):292-307. Epub 2015 Aug 9.

Institute of Biomedicine (IBIOMED), University of León, León, Spain.

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October 2015

Determining the pathogenicity of genetic variants associated with cardiac channelopathies.

Sci Rep 2015 Jan 22;5:7953. Epub 2015 Jan 22.

1] Cardiovascular Genetics Center, Institut d'Investigació Biomèdica de Girona (IDIBGI) and Universitat de Girona (UdG), Girona, Spain [2] Medical Science Department, School of Medicine, University of Girona, Girona, Spain [3] Cardiology Service, Hospital Josep Trueta, Girona, Spain.

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January 2015

Risk factors for the onset of panic and generalised anxiety disorders in the general adult population: a systematic review of cohort studies.

J Affect Disord 2014 Oct 19;168:337-48. Epub 2014 Jun 19.

Unidad de Investigación, del Distrito Sanitario de Atención Primaria Málaga-Guadalhorce, Spain; Red de Investigación en Actividades Preventivas y Promoción de la Salud, ISCIII (redIAPP), Spain; Instituto de Investigación Biomédica de Málaga (IBIMA), Spain; Centro de Salud El Palo, Servicio Andaluz de Salud, Spain; Departamento de Medicina Preventiva y Salud Pública, Universidad de Málaga, Campus de Teatinos, 29071 Málaga, Spain. Electronic address:

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October 2014

ASMase regulates autophagy and lysosomal membrane permeabilization and its inhibition prevents early stage non-alcoholic steatohepatitis.

J Hepatol 2014 Nov 16;61(5):1126-34. Epub 2014 Jun 16.

Department of Cell Death and Proliferation, IIBB-CSIC, Barcelona, Spain; Liver Unit, IDIBAPS Hospital Clinic de Barcelona and CIBEREHD, Barcelona, Spain; Southern California Research Center for ALPD and Cirrhosis, Keck School of Medicine, University of Southern California, Los Angeles, CA, United States. Electronic address:

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November 2014

Endoplasmic reticulum stress mediates amyloid β neurotoxicity via mitochondrial cholesterol trafficking.

Am J Pathol 2014 Jul 9;184(7):2066-81. Epub 2014 May 9.

Department of Cell Death and Proliferation, Biomedical Research Institute of Barcelona - Higher Council for Scientific Research (IIBB-CSIC), Barcelona, Spain; Liver Unit, Hospital Clinic, Institute of Biomedical Research August Pi i Sunyer (IDIBAPS), the Center for Biomedical Research in Hepatic and Digestive Diseases (CIBEREHD), Barcelona, Spain. Electronic address:

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July 2014

Reg3β deficiency impairs pancreatic tumor growth by skewing macrophage polarization.

Cancer Res 2013 Sep 18;73(18):5682-94. Epub 2013 Jul 18.

Authors' Affiliations: Gastroenterology Department, Hospital Clinic of Barcelona, Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas (CIBEREHD), IDIBAPS, Barcelona, Catalonia; Experimental Pathology Department, IIBB-CSIC, Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas (CIBEREHD), Barcelona, Catalonia, Spain; and Centre de Recherche en Cancérologie de Marseille (CRCM), Unité 1068, Marseille, France.

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September 2013

APP/PS1 mice overexpressing SREBP-2 exhibit combined Aβ accumulation and tau pathology underlying Alzheimer's disease.

Hum Mol Genet 2013 Sep 6;22(17):3460-76. Epub 2013 May 6.

Department of Cell Death and Proliferation, IIBB-CSIC, Barcelona 08036, Spain.

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September 2013

Association of childhood adversities with the first onset of mental disorders in Spain: results from the ESEMeD project.

Soc Psychiatry Psychiatr Epidemiol 2013 Mar 8;48(3):371-84. Epub 2012 Aug 8.

Parc Sanitari Sant Joan de Déu, Fundació Sant Joan de Déu, Dr. Antoni Pujades, 42, 08830, Sant Boi de Llobregat, Barcelona, Spain.

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March 2013

MLH1 methylation screening is effective in identifying epimutation carriers.

Eur J Hum Genet 2012 Dec 4;20(12):1256-64. Epub 2012 Jul 4.

Hereditary Cancer Program, Catalan Institute of Oncology, ICO-IDIBELL, L'Hospitalet de Llobregat, Barcelona, Spain.

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December 2012

Life sciences domain analysis model.

J Am Med Inform Assoc 2012 Nov-Dec;19(6):1095-102. Epub 2012 Jun 28.

Division of Biomedical Statistics and Informatics, Department of Health Sciences Research, Mayo Clinic, Rochester, Minnesota, USA.

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April 2013

Adjustment disorders in primary care: prevalence, recognition and use of services.

Br J Psychiatry 2012 Aug 10;201:137-42. Epub 2012 May 10.

Parc Sanitari Sant Joan de Déu, Research and Development Unit, Fundació Sant Joan de Déu, Dr Antoni Pujadas 42, Sant Boi de Llobregat, Barcelona, Spain.

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August 2012

Recognition of anxiety disorders by the general practitioner: results from the DASMAP study.

Gen Hosp Psychiatry 2012 May-Jun;34(3):227-33. Epub 2012 Feb 16.

Research and Development Unit, Parc Sanitari Sant Joan de Déu, Fundació Sant Joan de Déu, Barcelona, Spain.

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September 2012

Why a pathology image should not be considered as a radiology image.

J Pathol Inform 2011 14;2:26. Epub 2011 Jun 14.

Department of Pathology,University of Michigan, University of Michigan Health System, M4233A Medical Science I, 1301 Catherine, Ann Arbor, Michigan 48109-0602, USA.

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November 2011

The caBIG® Life Science Business Architecture Model.

Bioinformatics 2011 May 29;27(10):1429-35. Epub 2011 Mar 29.

Department of Medicine, Hematology/Oncology, Dan L. Duncan Cancer Center, Baylor College of Medicine, Houston, TX 77030, USA.

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May 2011

Costs of depression in Catalonia (Spain).

J Affect Disord 2011 Jul 12;132(1-2):130-8. Epub 2011 Mar 12.

Asociación Científica PSICOST, Cádiz, Spain.

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July 2011

Specific contribution of methionine and choline in nutritional nonalcoholic steatohepatitis: impact on mitochondrial S-adenosyl-L-methionine and glutathione.

J Biol Chem 2010 Jun 15;285(24):18528-36. Epub 2010 Apr 15.

Liver Unit, Centro de Investigaciones Biomédicas Esther Koplowitz, Instituto Malalties Digestivas i Metaboliques, Hospital Clínic i Provincial, 08036 Barcelona, Spain.

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June 2010

Burden of chronic physical conditions and mental disorders in primary care.

Br J Psychiatry 2010 Apr;196(4):302-9

Sant Joan de Déu-SSM, Fundació Sant Joan de Déu, Research and Development Unit, Dr. Antoni Pujadas, 42, 08830 Sant Boi de Llobregat, Barcelona, Spain.

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April 2010

Mitochondria, cholesterol and amyloid beta peptide: a dangerous trio in Alzheimer disease.

J Bioenerg Biomembr 2009 Oct;41(5):417-23

Liver Unit and Centro de Investigaciones Biomédicas Esther Koplowitz, IMDiM, Hospital Clínic i Provincial and CIBEREHD, IDIBAPS, and Department of Cell Death and Proliferation, Instituto Investigaciones Biomédicas de Barcelona, Consejo Superior de Investigaciones Científicas, Barcelona, Spain.

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October 2009

Mitochondrial cholesterol loading exacerbates amyloid beta peptide-induced inflammation and neurotoxicity.

J Neurosci 2009 May;29(20):6394-405

Department of Cell Death and Proliferation, Institut d'Investigacions Biomèdiques de Barcelona, Consejo Superior de Investigaciones Científicas and Unidad de Hepatología, Hospital Clinic i Provincial, 08036 Barcelona, Spain.

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May 2009

Mitochondrial S-adenosyl-L-methionine transport is insensitive to alcohol-mediated changes in membrane dynamics.

Alcohol Clin Exp Res 2009 Jul 9;33(7):1169-80. Epub 2009 Apr 9.

Liver Unit and Centro de Investigaciones Biomédicas Esther Koplowitz, Instituto Investigaciones Biomédicas de Barcelona, Consejo Superior de Investigaciones Científicas, Barcelona, Spain.

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July 2009

Enhanced free cholesterol, SREBP-2 and StAR expression in human NASH.

J Hepatol 2009 Apr 14;50(4):789-96. Epub 2009 Jan 14.

Centro de Investigaciones Biomédicas Esther Koplowitz, IMDiM, Hospital Clínic i Provincial and CIBEREHD, IDIBAPS, Department of Cell Death and Proliferation, Instituto Investigaciones Biomédicas de Barcelona, Spain.

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April 2009

Enhanced free cholesterol, SREBP-2 and StAR expression in human NASH.

J Hepatol 2009 Apr 14;50(4):789-96. Epub 2009 Jan 14.

Centro de Investigaciones Biomédicas Esther Koplowitz, IMDiM, Hospital Clínic i Provincial and CIBEREHD, IDIBAPS, Department of Cell Death and Proliferation, Instituto Investigaciones Biomédicas de Barcelona, Spain.

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April 2009

Cholesterol and sphingolipids in alcohol-induced liver injury.

J Gastroenterol Hepatol 2008 Mar;23 Suppl 1:S9-15

Center for Biomedical Research Esther Koplowitz, IMDiM, Hospital Clinic and CIBEREHD, Institute of Biomedical Research August Pi i Sunyer, Department of Cell Death and Proliferation, Institute of Biomedical Research, Barcelona, Spain.

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March 2008

Mechanism of mitochondrial glutathione-dependent hepatocellular susceptibility to TNF despite NF-kappaB activation.

Gastroenterology 2008 May 31;134(5):1507-20. Epub 2008 Jan 31.

Liver Unit and Centro de Investigaciones Biomédicas Esther Koplowitz, IMDiM, Hospital Clínic i Provincial, and CIBEREHD, IDIBAPS, Barcelona, Spain.

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May 2008

Adequacy of antidepressant treatment in Spanish primary care: a naturalistic six-month follow-up study.

Psychiatr Serv 2008 Jan;59(1):78-83

Department of Research and Development, Sant Joan de Deu-SSM, Carrer Dr Antoni Pujades, 42 Sant Boi de Llobregat, Barcelona, Spain.

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January 2008

Adequacy of antidepressant treatment in Spanish primary care: a naturalistic six-month follow-up study.

Psychiatr Serv 2008 Jan;59(1):78-83

Department of Research and Development, Sant Joan de Deu-SSM, Carrer Dr Antoni Pujades, 42 Sant Boi de Llobregat, Barcelona, Spain.

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January 2008

Mitochondrial free cholesterol loading sensitizes to TNF- and Fas-mediated steatohepatitis.

Cell Metab 2006 Sep;4(3):185-98

Liver Unit, Institut de Malalties Digestives, Hospital Clínic i Provincial, Instituto Investigaciones Biomédicas August Pi i Sunyer (IDIBAPS), Consejo Superior de Investigaciones Científicas, Barcelona, Spain.

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September 2006

Synthetic elevation beamforming and image acquisition capabilities using an 8 x 128 1.75D array.

IEEE Trans Ultrason Ferroelectr Freq Control 2003 Jan;50(1):40-57

Department of Biomedical Engineering, Duke University, Durham, NC 27708, USA.

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January 2003