Lekanne dit Deprez RH - Search Results

1

Large next-generation sequencing gene panels in genetic heart disease: yield of pathogenic variants and variants of unknown significance.

van Lint FHM, Mook ORF, Alders M, Bikker H, Lekanne Dit Deprez RH, Christiaans I. van Lint FHM, et al. Among authors: lekanne dit deprez rh. Neth Heart J. 2019 Jun;27(6):304-309. doi: 10.1007/s12471-019-1250-5. Neth Heart J. 2019. PMID: 30847666 Free PMC article.

2

Large next-generation sequencing gene panels in genetic heart disease: challenges in clinical practice.

Christiaans I, Mook ORF, Alders M, Bikker H, Lekanne Dit Deprez RH. Christiaans I, et al. Among authors: lekanne dit deprez rh. Neth Heart J. 2019 Jun;27(6):299-303. doi: 10.1007/s12471-019-1251-4. Neth Heart J. 2019. PMID: 30847665 Free PMC article.

3

Lamin A/C mutation is independently associated with an increased risk of arterial and venous thromboembolic complications.

van Rijsingen IA, Bakker A, Azim D, Hermans-van Ast JF, van der Kooi AJ, van Tintelen JP, van den Berg MP, Christiaans I, Lekanne Dit Deprez RH, Wilde AA, Zwinderman AH, Meijers JC, Grootemaat AE, Nieuwland R, Pinto YM, Pinto-Sietsma SJ. van Rijsingen IA, et al. Among authors: lekanne dit deprez rh. Int J Cardiol. 2013 Sep 20;168(1):472-7. doi: 10.1016/j.ijcard.2012.09.118. Epub 2012 Oct 14. Int J Cardiol. 2013. PMID: 23073275 Free article.

4

Phospholamban R14del mutation in patients diagnosed with dilated cardiomyopathy or arrhythmogenic right ventricular cardiomyopathy: evidence supporting the concept of arrhythmogenic cardiomyopathy.

van der Zwaag PA, van Rijsingen IA, Asimaki A, Jongbloed JD, van Veldhuisen DJ, Wiesfeld AC, Cox MG, van Lochem LT, de Boer RA, Hofstra RM, Christiaans I, van Spaendonck-Zwarts KY, Lekanne dit Deprez RH, Judge DP, Calkins H, Suurmeijer AJ, Hauer RN, Saffitz JE, Wilde AA, van den Berg MP, van Tintelen JP. van der Zwaag PA, et al. Among authors: lekanne dit deprez rh. Eur J Heart Fail. 2012 Nov;14(11):1199-207. doi: 10.1093/eurjhf/hfs119. Epub 2012 Jul 20. Eur J Heart Fail. 2012. PMID: 22820313 Free PMC article.

5

A novel autosomal dominant condition consisting of congenital heart defects and low atrial rhythm maps to chromosome 9q.

van de Meerakker JB, van Engelen K, Mathijssen IB, Lekanne dit Deprez RH, Lam J, Wilde AA, Baars MJ, Mannens MM, Mulder BJ, Moorman AF, Postma AV. van de Meerakker JB, et al. Among authors: lekanne dit deprez rh. Eur J Hum Genet. 2011 Jul;19(7):820-6. doi: 10.1038/ejhg.2011.33. Epub 2011 Mar 9. Eur J Hum Genet. 2011. PMID: 21386876 Free PMC article.

6

Recurrent and founder mutations in the Netherlands: mutation p.K217del in troponin T2, causing dilated cardiomyopathy.

Otten E, Lekanne Dit Deprez RH, Weiss MM, van Slegtenhorst M, Joosten M, van der Smagt JJ, de Jonge N, Kerstjens-Frederikse WS, Roofthooft MT, Balk AH, van den Berg MP, Ruiter JS, van Tintelen JP. Otten E, et al. Among authors: lekanne dit deprez rh. Neth Heart J. 2010 Oct;18(10):478-85. doi: 10.1007/BF03091819. Neth Heart J. 2010. PMID: 20978592 Free PMC article.

7

ABCB4 deficiency: A family saga of early onset cholelithiasis, sclerosing cholangitis and cirrhosis and a novel mutation in the ABCB4 gene.

Denk GU, Bikker H, Lekanne Dit Deprez RH, Terpstra V, van der Loos C, Beuers U, Rust C, Pusl T. Denk GU, et al. Among authors: lekanne dit deprez rh. Hepatol Res. 2010 Sep;40(9):937-41. doi: 10.1111/j.1872-034X.2010.00698.x. Hepatol Res. 2010. PMID: 20887599

8

Novel tools for extraction and validation of disease-related mutations applied to Fabry disease.

Kuipers R, van den Bergh T, Joosten HJ, Lekanne dit Deprez RH, Mannens MM, Schaap PJ. Kuipers R, et al. Among authors: lekanne dit deprez rh. Hum Mutat. 2010 Sep;31(9):1026-32. doi: 10.1002/humu.21317. Hum Mutat. 2010. PMID: 20629180

9

Ventricular fibrillation in MYH7-related hypertrophic cardiomyopathy before onset of ventricular hypertrophy.

Christiaans I, Lekanne dit Deprez RH, van Langen IM, Wilde AA. Christiaans I, et al. Among authors: lekanne dit deprez rh. Heart Rhythm. 2009 Sep;6(9):1366-9. doi: 10.1016/j.hrthm.2009.04.029. Epub 2009 May 4. Heart Rhythm. 2009. PMID: 19539541 No abstract available.

10

Gene symbol: GLA.

Spanu C, Lekanne dit Deprez RH, Groener JE, Nita CC. Spanu C, et al. Among authors: lekanne dit deprez rh. Hum Genet. 2007 Apr;121(2):295. Hum Genet. 2007. PMID: 17598215 No abstract available.

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