Brink PA - Search Results

1

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

Hedley PL, Jørgensen P, Schlamowitz S, Wangari R, Moolman-Smook J, Brink PA, Kanters JK, Corfield VA, Christiansen M. Hedley PL, et al. Among authors: brink pa. Hum Mutat. 2009 Nov;30(11):1486-511. doi: 10.1002/humu.21106. Hum Mutat. 2009. PMID: 19862833 Review.

2

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

Hedley PL, Durrheim GA, Hendricks F, Goosen A, Jespersgaard C, Støvring B, Pham TT, Christiansen M, Brink PA, Corfield VA. Hedley PL, et al. Among authors: brink pa. Cardiovasc J Afr. 2013 Jul;24(6):231-7. doi: 10.5830/CVJA-2013-032. Cardiovasc J Afr. 2013. PMID: 24217263 Free PMC article.

3

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

de Villiers CP, van der Merwe L, Crotti L, Goosen A, George AL Jr, Schwartz PJ, Brink PA, Moolman-Smook JC, Corfield VA. de Villiers CP, et al. Among authors: brink pa. Circ Cardiovasc Genet. 2014 Oct;7(5):599-606. doi: 10.1161/CIRCGENETICS.113.000580. Epub 2014 Aug 2. Circ Cardiovasc Genet. 2014. PMID: 25087618 Free PMC article.

4

Identification of a novel Ala797Thr mutation in exon 21 of the beta-myosin heavy chain gene in hypertrophic cardiomyopathy.

Moolman JC, Brink PA, Corfield VA. Moolman JC, et al. Among authors: brink pa. Hum Mutat. 1995;6(2):197-8. doi: 10.1002/humu.1380060219. Hum Mutat. 1995. PMID: 7581410 No abstract available.

5

A gene locus for progressive familial heart block type II (PFHBII) maps to chromosome 1q32.2-q32.3.

Fernandez P, Moolman-Smook J, Brink P, Corfield V. Fernandez P, et al. Hum Genet. 2005 Oct;118(1):133-7. doi: 10.1007/s00439-005-0029-5. Epub 2005 Oct 28. Hum Genet. 2005. PMID: 16086176

6

Identification of a new missense mutation at Arg403, a CpG mutation hotspot, in exon 13 of the beta-myosin heavy chain gene in hypertrophic cardiomyopathy.

Moolman JC, Brink PA, Corfield VA. Moolman JC, et al. Among authors: brink pa. Hum Mol Genet. 1993 Oct;2(10):1731-2. doi: 10.1093/hmg/2.10.1731. Hum Mol Genet. 1993. PMID: 8268932 No abstract available.

7

The origins of hypertrophic cardiomyopathy-causing mutations in two South African subpopulations: a unique profile of both independent and founder events.

Moolman-Smook JC, De Lange WJ, Bruwer EC, Brink PA, Corfield VA. Moolman-Smook JC, et al. Among authors: brink pa. Am J Hum Genet. 1999 Nov;65(5):1308-20. doi: 10.1086/302623. Am J Hum Genet. 1999. PMID: 10521296 Free PMC article.

8

Mendelian-inherited heart disease: a gateway to understanding mechanisms in heart disease Update on work done at the University of Stellenbosch.

Brink PA, Moolman-Smook JC, Corfield VA. Brink PA, et al. Cardiovasc J Afr. 2009 Jan-Feb;20(1):57-63. Cardiovasc J Afr. 2009. PMID: 19287818 Free PMC article. Review.

9

Phenotypic variability and unusual clinical severity of congenital long-QT syndrome in a founder population.

Brink PA, Crotti L, Corfield V, Goosen A, Durrheim G, Hedley P, Heradien M, Geldenhuys G, Vanoli E, Bacchini S, Spazzolini C, Lundquist AL, Roden DM, George AL Jr, Schwartz PJ. Brink PA, et al. Circulation. 2005 Oct 25;112(17):2602-10. doi: 10.1161/CIRCULATIONAHA.105.572453. Circulation. 2005. PMID: 16246960

10

Genetic variation in angiotensin-converting enzyme 2 gene is associated with extent of left ventricular hypertrophy in hypertrophic cardiomyopathy.

van der Merwe L, Cloete R, Revera M, Heradien M, Goosen A, Corfield VA, Brink PA, Moolman-Smook JC. van der Merwe L, et al. Among authors: brink pa. Hum Genet. 2008 Aug;124(1):57-61. doi: 10.1007/s00439-008-0524-6. Epub 2008 Jun 17. Hum Genet. 2008. PMID: 18560893 Free PMC article.

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