Deprez RHL - Search Results

1

Untargeted Metabolomics Identifies Potential Hypertrophic Cardiomyopathy Biomarkers in Carriers of MYBPC3 Founder Variants.

Jansen M, Schuldt M, van Driel BO, Schmidt AF, Christiaans I, van der Crabben SN, Hoedemaekers YM, Dooijes D, Jongbloed JDH, Boven LG, Deprez RHL, Wilde AAM, Jans JJM, van der Velden J, de Boer RA, van Tintelen JP, Asselbergs FW, Baas AF. Jansen M, et al. Among authors: deprez rhl. Int J Mol Sci. 2023 Feb 17;24(4):4031. doi: 10.3390/ijms24044031. Int J Mol Sci. 2023. PMID: 36835444 Free PMC article.

2

Terminal osseous dysplasia with pigmentary defects and cardiomyopathy caused by a novel FLNA variant.

Rumping L, Wessels MW, Postma AV, van Schuppen J, van Slegtenhorst MA, Saris JJ, van Tintelen JP, Robertson SP, Alders M, Maas SM, Deprez RHL. Rumping L, et al. Among authors: deprez rhl. Am J Med Genet A. 2021 Dec;185(12):3814-3820. doi: 10.1002/ajmg.a.62417. Epub 2021 Jul 13. Am J Med Genet A. 2021. PMID: 34254723 Free PMC article.

3

Atlas of the clinical genetics of human dilated cardiomyopathy.

Haas J, Frese KS, Peil B, Kloos W, Keller A, Nietsch R, Feng Z, Müller S, Kayvanpour E, Vogel B, Sedaghat-Hamedani F, Lim WK, Zhao X, Fradkin D, Köhler D, Fischer S, Franke J, Marquart S, Barb I, Li DT, Amr A, Ehlermann P, Mereles D, Weis T, Hassel S, Kremer A, King V, Wirsz E, Isnard R, Komajda M, Serio A, Grasso M, Syrris P, Wicks E, Plagnol V, Lopes L, Gadgaard T, Eiskjær H, Jørgensen M, Garcia-Giustiniani D, Ortiz-Genga M, Crespo-Leiro MG, Deprez RH, Christiaans I, van Rijsingen IA, Wilde AA, Waldenstrom A, Bolognesi M, Bellazzi R, Mörner S, Bermejo JL, Monserrat L, Villard E, Mogensen J, Pinto YM, Charron P, Elliott P, Arbustini E, Katus HA, Meder B. Haas J, et al. Eur Heart J. 2015 May 7;36(18):1123-35a. doi: 10.1093/eurheartj/ehu301. Epub 2014 Aug 27. Eur Heart J. 2015. PMID: 25163546

4

A systematic review on screening for Fabry disease: prevalence of individuals with genetic variants of unknown significance.

van der Tol L, Smid BE, Poorthuis BJ, Biegstraaten M, Deprez RH, Linthorst GE, Hollak CE. van der Tol L, et al. J Med Genet. 2014 Jan;51(1):1-9. doi: 10.1136/jmedgenet-2013-101857. Epub 2013 Aug 6. J Med Genet. 2014. PMID: 23922385 Review.

5

Early cerebral manifestations in a young female with Fabry disease with skewed X-inactivation.

Bouwman MG, Rombach SM, Linthorst GE, Poorthuis BJ, Deprez RH, Aerts JM, Wijburg FA. Bouwman MG, et al. Clin Genet. 2011 Nov;80(5):500-2. doi: 10.1111/j.1399-0004.2011.01643.x. Clin Genet. 2011. PMID: 22243051 No abstract available.

6

Clinical utility gene card for: hypertrophic cardiomyopathy (type 1-14).

Pinto YM, Wilde AA, van Rijsingen IA, Christiaans I, Deprez RH, Elliott PM. Pinto YM, et al. Eur J Hum Genet. 2011 Aug;19(8). doi: 10.1038/ejhg.2010.243. Epub 2011 Jan 26. Eur J Hum Genet. 2011. PMID: 21267010 Free PMC article. No abstract available.

7

Increased cardiac workload by closure of the ductus arteriosus leads to hypertrophy and apoptosis rather than to hyperplasia in the late fetal period.

van den Hoff MJ, Deprez RH, Ruijter JM, de Boer PA, Tesink-Taekema S, Buffing AA, Lamers WH, Moorman AF. van den Hoff MJ, et al. Naunyn Schmiedebergs Arch Pharmacol. 2004 Sep;370(3):193-202. doi: 10.1007/s00210-004-0955-0. Epub 2004 Aug 31. Naunyn Schmiedebergs Arch Pharmacol. 2004. PMID: 15340773

8

Assumption-free analysis of quantitative real-time polymerase chain reaction (PCR) data.

Ramakers C, Ruijter JM, Deprez RH, Moorman AF. Ramakers C, et al. Neurosci Lett. 2003 Mar 13;339(1):62-6. doi: 10.1016/s0304-3940(02)01423-4. Neurosci Lett. 2003. PMID: 12618301

9

Non-radioactive in situ detection of mRNA in ES cell-derived cardiomyocytes and in the developing heart.

Fijnvandraat AC, De Boer PA, Deprez RH, Moorman AF. Fijnvandraat AC, et al. Microsc Res Tech. 2002 Sep 1;58(5):387-94. doi: 10.1002/jemt.10154. Microsc Res Tech. 2002. PMID: 12226808

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