Maria Brion

Maria Brion

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Maria Brion

Maria Brion

Publications by authors named "Maria Brion"

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A Novel Calsequestrin 2 Deletion Causing Catecholaminergic Polymorphic Ventricular Tachycardia and Sudden Cardiac Death.

Rev Esp Cardiol (Engl Ed) 2019 Aug 20;72(8):681-683. Epub 2018 Aug 20.

Xenética Cardiovascular, Instituto de Investigación Sanitaria de Santiago de Compostela, Complexo Hospitalario Universitario de Santiago de Compostela, Santiago de Compostela, A Coruña, Spain; Servicio de Cardiología, Hospital Clínico Universitario de Santiago de Compostela-SERGAS, Instituto de Investigación Sanitaria de Santiago de Compostela (IDIS), Centro de Investigación Biomédica en Red de Enfermedades Cardiovasculares (CIBERCV), Santiago de Compostela, A Coruña, Spain; Grupo de Medicina Xenómica, Instituto de Investigación Sanitaria de Santiago de Compostela -Universidade de Santiago de Compostela- Fundación Pública Galega de Medicina Xenómica, Santiago de Compostela, A Coruña, Spain. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S18855857183031
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http://dx.doi.org/10.1016/j.rec.2018.07.005DOI Listing
August 2019

Innovative Strategies in Heart Failure: Present and Future.

Arch Med Res 2018 11 31;49(8):558-567. Epub 2018 Dec 31.

Departamento de Cardiología, Hospital Universitario Santiago de Compostela, Santiago de Compostela, España; Instituto para el Desarrollo e Integración de la Salud, Santiago de Compostela, España; Centro de Investigación Biomédica en Red de Enfermedades Cardiovasculares, Madrid, España. Electronic address:

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http://dx.doi.org/10.1016/j.arcmed.2018.12.011DOI Listing
November 2018

Relationship between fibrillin-1 genotype and severity of cardiovascular involvement in Marfan syndrome.

Heart 2017 11 3;103(22):1795-1799. Epub 2017 May 3.

Servei de Cardiologia, Unitat de Marfan, Hospital Universitari, Vall d'Hebron, Universitat Autònoma de Barcelona, CIBERCV, Barcelona, Spain.

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http://dx.doi.org/10.1136/heartjnl-2016-310631DOI Listing
November 2017

Postmortem genetic testing should be recommended in sudden cardiac death cases due to thoracic aortic dissection.

Int J Legal Med 2017 Sep 8;131(5):1211-1219. Epub 2017 Apr 8.

Xenética de Enfermidades Cardiovasculares e Oftalmolóxicas, Instituto de Investigación Sanitaria de Santiago de Compostela, Complexo Hospitalario Universitario de Santiago de Compostela, Santiago de Compostela, Spain.

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http://dx.doi.org/10.1007/s00414-017-1583-9DOI Listing
September 2017

Medico-legal perspectives on sudden cardiac death in young athletes.

Int J Legal Med 2017 Mar 21;131(2):393-409. Epub 2016 Sep 21.

Cardiovascular Genetics Center, Gencardio Institut d'Investigacions Biomèdiques de Girona (IDIBGI), Girona, Spain.

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http://dx.doi.org/10.1007/s00414-016-1452-yDOI Listing
March 2017

PRKG1 and genetic diagnosis of early-onset thoracic aortic disease.

Eur J Clin Invest 2016 Sep 18;46(9):787-94. Epub 2016 Aug 18.

Xenética de Enfermidades Cardiovasculares e Oftalmolóxicas, Instituto de Investigación Sanitaria de Santiago de Compostela, Complexo Hospitalario Universitario de Santiago de Compostela, Santiago de Compostela, A Coruña, Spain.

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http://dx.doi.org/10.1111/eci.12662DOI Listing
September 2016

Resequencing and association analysis of coding regions at twenty candidate genes suggest a role for rare risk variation at AKAP9 and protective variation at NRXN1 in schizophrenia susceptibility.

J Psychiatr Res 2015 Jul-Aug;66-67:38-44. Epub 2015 Apr 22.

Instituto de Investigación Sanitaria (IDIS) de Santiago de Compostela, Complexo Hospitalario Universitario de Santiago (CHUS), Servizo Galego de Saúde (SERGAS), Santiago de Compostela, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.jpsychires.2015.04.013DOI Listing
February 2016

The relationship between surname frequency and Y chromosome variation in Spain.

Eur J Hum Genet 2016 Jan 22;24(1):120-8. Epub 2015 Apr 22.

Human Evolutionary Genetics Group, Department of Zoology, University of Oxford, Oxford, UK.

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http://dx.doi.org/10.1038/ejhg.2015.75DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4795233PMC
January 2016

Broad-based molecular autopsy: a potential tool to investigate the involvement of subtle cardiac conditions in sudden unexpected death in infancy and early childhood.

Arch Dis Child 2015 Oct 13;100(10):952-6. Epub 2015 Aug 13.

Xenética de Enfermidades Cardiovasculares, Instituto de Investigación Sanitaria de Santiago, Red de Investigación Cardiovascular (RIC), Santiago De Compostela, Spain Grupo de Medicina Xenómica, University of Santiago de Compostela, Santiago de Compostela, Spain Fundación Pública Galega de Medicina Xenómica, SERGAS, Santiago de Compostela, Spain.

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http://dx.doi.org/10.1136/archdischild-2015-308200DOI Listing
October 2015

Association between SNPs of Metalloproteinases and Prostaglandin F2α Receptor Genes and Latanoprost Response in Open-Angle Glaucoma.

Ophthalmology 2015 May 19;122(5):1040-8.e4. Epub 2015 Feb 19.

Instituto de Oftalmobiologia Aplicada, IOBA, Universidad de Valladolid, Valladolid, Spain; Hospital Clinico Universitario de Valladolid, Valladolid, Spain.

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http://dx.doi.org/10.1016/j.ophtha.2014.12.038DOI Listing
May 2015

Predicting proliferative vitreoretinopathy: temporal and external validation of models based on genetic and clinical variables.

Br J Ophthalmol 2015 Jan 29;99(1):41-8. Epub 2014 Jul 29.

Medicina Xenómica, Complexo Hospitalario Universitario de Santiago, IDIS, Santiago de Compostela, Spain University of Santiago de Compostela, Galician Public Foundation for Genomic Medicine, CIBERER, Santiago de Compostela, Spain.

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http://dx.doi.org/10.1136/bjophthalmol-2014-305263DOI Listing
January 2015

Next generation sequencing challenges in the analysis of cardiac sudden death due to arrhythmogenic disorders.

Electrophoresis 2014 Nov 6;35(21-22):3111-6. Epub 2014 Aug 6.

Grupo de Xenética de enfermidades cardiovasculares e oftalmolóxicas, IDIS, RIC Santiago de Compostela, Spain; Fundación Pública Galega de Medicina Xenómica, SERGAS, Santiago de Compostela, Spain.

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http://dx.doi.org/10.1002/elps.201400148DOI Listing
November 2014

Whole exome sequencing for the identification of a new mutation in TGFB2 involved in a familial case of non-syndromic aortic disease.

Clin Chim Acta 2014 Nov 19;437:88-92. Epub 2014 Jul 19.

Xenética de enfermidades cardiovasculares e oftalmolóxicas, Instituto de Investigación Sanitaria de Santiago de Compostela, Complexo Hospitalario Universitario de Santiago de Compostela, 15706 Santiago de Compostela, A Coruña, Spain; Grupo de Medicina Xenómica IDIS-USC, Fundación Pública Galega de Medicina Xenómica, 15706 Santiago de Compostela, A Coruña, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.cca.2014.07.016DOI Listing
November 2014

Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization.

Authors:
Dan E Arking Sara L Pulit Lia Crotti Pim van der Harst Patricia B Munroe Tamara T Koopmann Nona Sotoodehnia Elizabeth J Rossin Michael Morley Xinchen Wang Andrew D Johnson Alicia Lundby Daníel F Gudbjartsson Peter A Noseworthy Mark Eijgelsheim Yuki Bradford Kirill V Tarasov Marcus Dörr Martina Müller-Nurasyid Annukka M Lahtinen Ilja M Nolte Albert Vernon Smith Joshua C Bis Aaron Isaacs Stephen J Newhouse Daniel S Evans Wendy S Post Daryl Waggott Leo-Pekka Lyytikäinen Andrew A Hicks Lewin Eisele David Ellinghaus Caroline Hayward Pau Navarro Sheila Ulivi Toshiko Tanaka David J Tester Stéphanie Chatel Stefan Gustafsson Meena Kumari Richard W Morris Åsa T Naluai Sandosh Padmanabhan Alexander Kluttig Bernhard Strohmer Andrie G Panayiotou Maria Torres Michael Knoflach Jaroslav A Hubacek Kamil Slowikowski Soumya Raychaudhuri Runjun D Kumar Tamara B Harris Lenore J Launer Alan R Shuldiner Alvaro Alonso Joel S Bader Georg Ehret Hailiang Huang W H Linda Kao James B Strait Peter W Macfarlane Morris Brown Mark J Caulfield Nilesh J Samani Florian Kronenberg Johann Willeit J Gustav Smith Karin H Greiser Henriette Meyer Zu Schwabedissen Karl Werdan Massimo Carella Leopoldo Zelante Susan R Heckbert Bruce M Psaty Jerome I Rotter Ivana Kolcic Ozren Polašek Alan F Wright Maura Griffin Mark J Daly David O Arnar Hilma Hólm Unnur Thorsteinsdottir Joshua C Denny Dan M Roden Rebecca L Zuvich Valur Emilsson Andrew S Plump Martin G Larson Christopher J O'Donnell Xiaoyan Yin Marco Bobbo Adamo P D'Adamo Annamaria Iorio Gianfranco Sinagra Angel Carracedo Steven R Cummings Michael A Nalls Antti Jula Kimmo K Kontula Annukka Marjamaa Lasse Oikarinen Markus Perola Kimmo Porthan Raimund Erbel Per Hoffmann Karl-Heinz Jöckel Hagen Kälsch Markus M Nöthen Marcel den Hoed Ruth J F Loos Dag S Thelle Christian Gieger Thomas Meitinger Siegfried Perz Annette Peters Hanna Prucha Moritz F Sinner Melanie Waldenberger Rudolf A de Boer Lude Franke Pieter A van der Vleuten Britt Maria Beckmann Eimo Martens Abdennasser Bardai Nynke Hofman Arthur A M Wilde Elijah R Behr Chrysoula Dalageorgou John R Giudicessi Argelia Medeiros-Domingo Julien Barc Florence Kyndt Vincent Probst Alice Ghidoni Roberto Insolia Robert M Hamilton Stephen W Scherer Jeffrey Brandimarto Kenneth Margulies Christine E Moravec Fabiola del Greco M Christian Fuchsberger Jeffrey R O'Connell Wai K Lee Graham C M Watt Harry Campbell Sarah H Wild Nour E El Mokhtari Norbert Frey Folkert W Asselbergs Irene Mateo Leach Gerjan Navis Maarten P van den Berg Dirk J van Veldhuisen Manolis Kellis Bouwe P Krijthe Oscar H Franco Albert Hofman Jan A Kors André G Uitterlinden Jacqueline C M Witteman Lyudmyla Kedenko Claudia Lamina Ben A Oostra Gonçalo R Abecasis Edward G Lakatta Antonella Mulas Marco Orrú David Schlessinger Manuela Uda Marcello R P Markus Uwe Völker Harold Snieder Timothy D Spector Johan Ärnlöv Lars Lind Johan Sundström Ann-Christine Syvänen Mika Kivimaki Mika Kähönen Nina Mononen Olli T Raitakari Jorma S Viikari Vera Adamkova Stefan Kiechl Maria Brion Andrew N Nicolaides Bernhard Paulweber Johannes Haerting Anna F Dominiczak Fredrik Nyberg Peter H Whincup Aroon D Hingorani Jean-Jacques Schott Connie R Bezzina Erik Ingelsson Luigi Ferrucci Paolo Gasparini James F Wilson Igor Rudan Andre Franke Thomas W Mühleisen Peter P Pramstaller Terho J Lehtimäki Andrew D Paterson Afshin Parsa Yongmei Liu Cornelia M van Duijn David S Siscovick Vilmundur Gudnason Yalda Jamshidi Veikko Salomaa Stephan B Felix Serena Sanna Marylyn D Ritchie Bruno H Stricker Kari Stefansson Laurie A Boyer Thomas P Cappola Jesper V Olsen Kasper Lage Peter J Schwartz Stefan Kääb Aravinda Chakravarti Michael J Ackerman Arne Pfeufer Paul I W de Bakker Christopher Newton-Cheh

Nat Genet 2014 Aug 22;46(8):826-36. Epub 2014 Jun 22.

1] Center for Human Genetic Research, Massachusetts General Hospital, Boston, Massachusetts, USA. [2] Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, Massachusetts, USA. [3] Harvard Medical School, Boston, Massachusetts, USA. [4] Cardiovascular Research Center, Massachusetts General Hospital, Boston, Massachusetts, USA. [5].

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http://dx.doi.org/10.1038/ng.3014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4124521PMC
August 2014

Involvement of LCA5 in Leber congenital amaurosis and retinitis pigmentosa in the Spanish population.

Ophthalmology 2014 Jan 18;121(1):399-407. Epub 2013 Oct 18.

Department of Genetics, IIS - Fundación Jiménez Díaz, Madrid, Spain; Centre for Biomedical Network Research on Rare Diseases, ISCIII, Valencia, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.ophtha.2013.08.028DOI Listing
January 2014

Sarcomeric gene mutations in sudden infant death syndrome (SIDS).

Forensic Sci Int 2012 Jun 22;219(1-3):278-81. Epub 2012 Feb 22.

Genetics of Cardiovascular and Ophthalmologic Diseases, Hospital-University Complex of Santiago (CHUS), Santiago de Compostela, Spain.

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http://dx.doi.org/10.1016/j.forsciint.2012.01.018DOI Listing
June 2012

Increased clopidogrel response is associated with ABCC3 expression: a pilot study.

Clin Chim Acta 2012 Feb 20;413(3-4):417-21. Epub 2011 Oct 20.

Faculty of Pharmaceutical Science, Department of Clinical and Toxicological Analyses, University of Sao Paulo, Sao Paulo, Brazil.

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http://dx.doi.org/10.1016/j.cca.2011.10.018DOI Listing
February 2012

Prevalence of HCM and long QT syndrome mutations in young sudden cardiac death-related cases.

Int J Legal Med 2011 Jul 16;125(4):565-72. Epub 2011 Apr 16.

Genetics of Cardiovascular and Ophthalmologic Diseases, Hospital-University Complex of Santiago (CHUS), Santiago de Compostela, Spain.

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http://www.springerlink.com/index/q6p3711168770w27.pdf
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http://link.springer.com/content/pdf/10.1007/s00414-011-0572
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http://link.springer.com/10.1007/s00414-011-0572-7
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http://dx.doi.org/10.1007/s00414-011-0572-7DOI Listing
July 2011

A new approach to long QT syndrome mutation detection by Sequenom MassARRAY system.

Electrophoresis 2010 May;31(10):1648-55

Genomics Medicine Group, Galician Foundation of Genomic Medicine and University of Santiago de Compostela, CIBERER Santiago de Compostela, Spain.

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http://dx.doi.org/10.1002/elps.201000022DOI Listing
May 2010

Genetic variants near TIMP3 and high-density lipoprotein-associated loci influence susceptibility to age-related macular degeneration.

Proc Natl Acad Sci U S A 2010 Apr 12;107(16):7401-6. Epub 2010 Apr 12.

Center for Statistical Genetics, Biostatistics, University of Michigan, Ann Arbor, MI 48109, USA.

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http://dx.doi.org/10.1073/pnas.0912702107DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2867722PMC
April 2010

Development of predictive models of proliferative vitreoretinopathy based on genetic variables: the Retina 4 project.

Invest Ophthalmol Vis Sci 2009 May 20;50(5):2384-90. Epub 2008 Dec 20.

Department of Ophthalmology, University of Valladolid, IOBA (Institute for Research in Ophthalmobiology), Valladolid, Spain.

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http://dx.doi.org/10.1167/iovs.08-2670DOI Listing
May 2009

The genetic male component of two South-Western Colombian populations.

Forensic Sci Int Genet 2009 Mar 8;3(2):e59-61. Epub 2008 Aug 8.

Pediatrics Department, College of Medicine, University of Cauca, Popayán, Colombia.

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http://dx.doi.org/10.1016/j.fsigen.2008.06.006DOI Listing
March 2009

Molecular genetics of sudden cardiac death.

Forensic Sci Int 2008 Nov 7;182(1-3):1-12. Epub 2008 Nov 7.

Institute of Legal Medicine, University of Santiago de Compostela, Spain.

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http://dx.doi.org/10.1016/j.forsciint.2008.09.013DOI Listing
November 2008

Phylogenetic evidence for multiple independent duplication events at the DYS19 locus.

Forensic Sci Int Genet 2007 Dec 20;1(3-4):287-90. Epub 2007 Jul 20.

Department of Zoology, University of Oxford, Tinbergen Building, South Parks Road, OX1 3PS Oxford, UK.

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http://dx.doi.org/10.1016/j.fsigen.2007.06.001DOI Listing
December 2007

Autosomal microsatellite data from Northwestern Colombia.

Forensic Sci Int 2006 Jul 15;160(2-3):217-20. Epub 2005 Jul 15.

Institute of Biology, Faculty of Exact and Natural Sciences, University of Antioquia, Medellín, Colombia.

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http://linkinghub.elsevier.com/retrieve/pii/S037907380500340
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http://dx.doi.org/10.1016/j.forsciint.2005.05.034DOI Listing
July 2006

SNPs in forensic genetics: a review on SNP typing methodologies.

Forensic Sci Int 2005 Nov 11;154(2-3):181-94. Epub 2005 Jan 11.

Institute of Legal Medicine, University of Santiago de Compostela, San Francisco s/n, Spain.

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http://dx.doi.org/10.1016/j.forsciint.2004.10.020DOI Listing
November 2005

Y chromosome SNP analysis using the single-base extension: a hierarchical multiplex design.

Authors:
María Brión

Methods Mol Biol 2005 ;297:229-42

Institute of Legal Medicine, Faculty of Medicine, University of Santiago de Compostela, Santiago de Compostela, Galicia, Spain.

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April 2005

Nineteen autosomal microsatellite data from Antioquia (Colombia).

Forensic Sci Int 2004 Jun;143(1):69-71

Forensic Genetics, Biology Departament, Faculty of Exact and Natural Sciences, University of Antioquia, Medellín, Colombia.

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http://dx.doi.org/10.1016/j.forsciint.2004.01.007DOI Listing
June 2004

Y-chromosome STR-haplotype typing in El Salvador.

Forensic Sci Int 2004 May;142(1):45-9

Facultad de Medicina, Instituto de Medicina Legal, University of Santiago de Compostela, C/San Francisco s/n, 15782 Santiago de Compostela, Galicia, Spain.

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http://dx.doi.org/10.1016/j.forsciint.2004.02.004DOI Listing
May 2004

Micro-geographical differentiation in Northern Iberia revealed by Y-chromosomal DNA analysis.

Gene 2004 Mar;329:17-25

Institute of Legal Medicine, University of Santiago de Compostela, San Francisco s/n., 15782 Santiago de Compostela, Spain.

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http://dx.doi.org/10.1016/j.gene.2003.12.035DOI Listing
March 2004

Duplications of the Y-chromosome specific loci P25 and 92R7 and forensic implications.

Forensic Sci Int 2004 Mar;140(2-3):241-50

Department of Forensic Genetics, Institute of Forensic Medicine, University of Copenhagen, 11 Frederik V's Vej, DK-2100 Copenhagen, Denmark.

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http://dx.doi.org/10.1016/j.forsciint.2003.11.035DOI Listing
March 2004

Population data of Galicia (NW Spain) on the new Y-STRs DYS437, DYS438, DYS439, GATA A10, GATA A7.1, GATA A7.2, GATA C4 and GATA H4.

Forensic Sci Int 2003 Jan;131(2-3):220-4

Faculty of Medicine, Institute of Legal Medicine, University of Santiago de Compostela, C/San Francisco s/n, 15782 Santiago de Compostela, Galicia, Spain.

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January 2003

Point mutations in the flanking regions of the Y-chromosome specific STRs DYS391, DYS437 and DYS438.

Int J Legal Med 2002 Dec 30;116(6):322-6. Epub 2002 Oct 30.

IPATIMUP, Instituto de Patologia e Imunologia Molecular da Universidade do Porto, Rua Dr Roberto Frias s/n, 4200-465 Porto, Portugal.

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http://dx.doi.org/10.1007/s00414-002-0310-2DOI Listing
December 2002

Genetic data on eight STRs (D5S818, D7S820, F13B, LPL, TH01, TPOX, VWA31, CSF1PO) from a Colombian population.

Forensic Sci Int 2002 Oct;129(3):216-8

Human Genetics Laboratory, Faculty of Medicine, University of Cauca, Cauca, Colombia.

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October 2002

STR data for the AmpFlSTR Profiler Plus loci from Greece.

Forensic Sci Int 2002 May;126(3):265-6

Faculty of Medicine, Institute of Legal Medicine, University of Santiago de Compostela, C/ San Francisco s/n, Spain.

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May 2002