Publications by authors named "Paul A Brink"

35Publications

Generation of two human induced pluripotent stem cell (hiPSC) lines from a long QT syndrome South African founder population.

Stem Cell Res 2019 08 24;39:101510. Epub 2019 Jul 24.

Coronary Care Unit and Laboratory of Experimental Cardiology for Cell and Molecular Therapy, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy; Department of Molecular Medicine, Unit of Cardiology, Università degli studi di Pavia, Pavia, Italy; Department of Medicine, University of Cape Town, Cape Town, South Africa. Electronic address:

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http://dx.doi.org/10.1016/j.scr.2019.101510DOI Listing
August 2019

Generation of the human induced pluripotent stem cell (hiPSC) line PSMi007-A from a Long QT Syndrome type 1 patient carrier of two common variants in the NOS1AP gene.

Stem Cell Res 2019 04 6;36:101416. Epub 2019 Mar 6.

Coronary Care Unit and Laboratory of Experimental Cardiology for Cell and Molecular Therapy, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy.; Department of Molecular Medicine, Unit of Cardiology, Università degli studi di Pavia, Pavia, Italy.; Department of Medicine, University of Cape Town, Cape Town, South Africa. Electronic address:

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http://dx.doi.org/10.1016/j.scr.2019.101416DOI Listing
April 2019

Genetic Modifiers for the Long-QT Syndrome: How Important Is the Role of Variants in the 3' Untranslated Region of KCNQ1?

Circ Cardiovasc Genet 2016 Aug;9(4):330-9

From the Center for Cardiac Arrhythmias of Genetic Origin and Laboratory of Cardiovascular Genetics, IRCCS Istituto Auxologico Italiano, Milan (L.C., C.S., P.J.S.); Department of Molecular Medicine (L.C.) and Department of Public Health (M.C.M., C.M.), Unit of Biostatistics and Clinical Epidemiology, University of Pavia, Pavia; Department of Cardiovascular, Neural and Metabolic Sciences, San Luca Hospital IRCCS Istituto Auxologico Italiano, Milan, Italy (L.C., G.P.); Department of Medicine, Helsinki University Central Hospital and University of Helsinki, Helsinki, Finland (A.M.L., K.K.); Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany (E.M., P.L., T.M.); Department of Medicine and Surgery University of Milano-Bicocca, Milan, Italy (G.P.); Department of Internal Medicine, University of Stellenbosch, South Africa (M.H., A.G., P.A.B.); Institute of Human Genetics, Technische Universität München (T.M.); DZHK (German Centre for Cardiovascular Research), partner site Munich Heart Alliance, Munich, Germany (T.M.); and Heart and Lung Center, Helsinki University Central Hospital, Helsinki, Finland (H.S.).

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http://dx.doi.org/10.1161/CIRCGENETICS.116.001419DOI Listing
August 2016

Diagnostic disparity and identification of two TNNI3 gene mutations, one novel and one arising de novo, in South African patients with restrictive cardiomyopathy and focal ventricular hypertrophy.

Cardiovasc J Afr 2015 Mar-Apr;26(2):63-9

SA MRC Centre for Tuberculosis Research, DST/NRF Centre of Excellence for Biomedical Tuberculosis Research, Division of Molecular Biology and Human Genetics, Faculty of Medicine and Health Sciences, Stellenbosch University, Cape Town, South Africa.

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http://dx.doi.org/10.5830/CVJA-2015-019DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4815569PMC
February 2016

Autonomic control of heart rate and QT interval variability influences arrhythmic risk in long QT syndrome type 1.

J Am Coll Cardiol 2015 Feb;65(4):367-374

Center for Cardiac Arrhythmias of Genetic Origin and Laboratory of Cardiovascular Genetics, IRCCS Istituto Auxologico Italiano, Milan, Italy.

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http://dx.doi.org/10.1016/j.jacc.2014.11.015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4312415PMC
February 2015

AKAP9 is a genetic modifier of congenital long-QT syndrome type 1.

Circ Cardiovasc Genet 2014 Oct 2;7(5):599-606. Epub 2014 Aug 2.

From the Division of Molecular Biology and Human Genetics, Department of Biomedical Sciences, Faculty of Medicine and Health Sciences, Medical Research Council (MRC) Centre for Molecular and Cellular Biology, (C.P.d.V., L.v.d.M., J.C.M.-S., V.A.C.), and Department of Internal Medicine (A.G., P.A.B.), Stellenbosch University, Stellenbosch, South Africa; Department of Statistics, University of Western Cape, Bellville, South Africa (L.v.d.M.); IRCCS Istituto Auxologico Italiano, Center for Cardiac Arrhythmias of Genetic Origin and Laboratory of Cardiovascular Genetics, Milan, Italy (L.C., P.J.S.); Department of Molecular Medicine, University of Pavia, Pavia, Italy (L.C.); Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany (L.C.); and Departments of Medicine and Pharmacology, and Institute for Integrative Genomics, Vanderbilt University, Nashville, TN (A.L.G.).

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http://dx.doi.org/10.1161/CIRCGENETICS.113.000580DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4270884PMC
October 2014

From the editor's desk.

Authors:
Paul A Brink

Cardiovasc J Afr 2014 Mar-Apr;25(2):43

Department of Internal Medicine, Faculty of Health Sciences, University of Stellenbosch and Tygerberg Hospital, Tygerberg.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4026763PMC
February 2015

From the economics of TAVI and the pathophysiology of heart and vessel disease to metabolic disease in Africa and the developing world.

Authors:
Paul A Brink

Cardiovasc J Afr 2014 Jan-Feb;25(1)

Department of Internal Medicine, Faculty of Health Sciences, University of Stellenbosch and Tygerberg Hospital, Tygerberg.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3959181PMC
November 2014

Reflections on a range of cardiovascular issues.

Authors:
Paul A Brink

Cardiovasc J Afr 2013 Oct-Nov;24(9-10):343

Department of Internal Medicine, Faculty of Health Sciences, University of Stellenbosch and Tygerberg Hospital, Tygerberg.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3896101PMC
August 2014

Article visibility: journal impact factor and availability of full text in PubMed Central and open access.

Authors:
Paul A Brink

Cardiovasc J Afr 2013 Sep;24(8):295-6

Department of Internal Medicine, Faculty of Health Sciences, University of Stellenbosch and Tygerberg Hospital, Tygerberg.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3821054PMC
September 2013

Long QT syndrome in South Africa: the results of comprehensive genetic screening.

Cardiovasc J Afr 2013 Jul;24(6):231-7

US/MRC Centre for Molecular and Cellular Biology, Department of Biomedical Sciences, Faculty of Medicine and Health Sciences, University of Stellenbosch, South Africa.

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http://dx.doi.org/10.5830/CVJA-2013-032DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3772322PMC
July 2013

Genetic variation in angiotensin II type 2 receptor gene influences extent of left ventricular hypertrophy in hypertrophic cardiomyopathy independent of blood pressure.

J Renin Angiotensin Aldosterone Syst 2011 Sep 16;12(3):274-80. Epub 2010 Dec 16.

MRC Centre for Molecular and Cellular Biology, Department of Biomedical Sciences, University of Stellenbosch Health Sciences Faculty, Tygerberg, South Africa.

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http://dx.doi.org/10.1177/1470320310390725DOI Listing
September 2011

Of founder populations, long QT syndrome, and destiny.

Heart Rhythm 2009 Nov 3;6(11 Suppl):S25-33. Epub 2009 Sep 3.

Department of Internal Medicine, University of Stellenbosch, South Africa.

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http://dx.doi.org/10.1016/j.hrthm.2009.08.036DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2802718PMC
November 2009

The genetic basis of long QT and short QT syndromes: a mutation update.

Hum Mutat 2009 Nov;30(11):1486-511

Department of Clinical Biochemistry and Immunology, Statens Serum Institut, Copenhagen, Denmark.

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http://dx.doi.org/10.1002/humu.21106DOI Listing
November 2009

Does pregnancy increase cardiac risk for LQT1 patients with the KCNQ1-A341V mutation?

J Am Coll Cardiol 2006 Oct 14;48(7):1410-5. Epub 2006 Sep 14.

Department of Internal Medicine, University of Stellenbosch, Stellenbosch, South Africa.

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http://dx.doi.org/10.1016/j.jacc.2006.05.060DOI Listing
October 2006

Molecular genetics of cardiomyopathy: changing times, shifting paradigms.

Cardiovasc J S Afr 2003 May-Jun;14(3):145-55

US/MRC for Molecular and Cellular Biology, Faculty of Health Science, University of Stellenbosch, Tygerburg, South Africa.

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October 2003