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Page 1
A mutation update for the FLNC gene in myopathies and cardiomyopathies.
Verdonschot JAJ, Vanhoutte EK, Claes GRF, Helderman-van den Enden ATJM, Hoeijmakers JGJ, Hellebrekers DMEI, de Haan A, Christiaans I, Lekanne Deprez RH, Boen HM, van Craenenbroeck EM, Loeys BL, Hoedemaekers YM, Marcelis C, Kempers M, Brusse E, van Waning JI, Baas AF, Dooijes D, Asselbergs FW, Barge-Schaapveld DQCM, Koopman P, van den Wijngaard A, Heymans SRB, Krapels IPC, Brunner HG. Verdonschot JAJ, et al. Among authors: vanhoutte ek. Hum Mutat. 2020 Jun;41(6):1091-1111. doi: 10.1002/humu.24004. Epub 2020 Mar 20. Hum Mutat. 2020. PMID: 32112656 Free PMC article. Review.
Clinical impact of re-evaluating genes and variants implicated in dilated cardiomyopathy.
Stroeks SLVM, Hellebrekers DMEI, Claes GRF, Tayal U, Krapels IPC, Vanhoutte EK, van den Wijngaard A, Henkens MTHM, Ware JS, Heymans SRB, Brunner HG, Verdonschot JAJ. Stroeks SLVM, et al. Among authors: vanhoutte ek. Genet Med. 2021 Nov;23(11):2186-2193. doi: 10.1038/s41436-021-01255-1. Epub 2021 Jun 30. Genet Med. 2021. PMID: 34194005 Free PMC article.
Prevalence of Pathogenic Gene Mutations and Prognosis Do Not Differ in Isolated Left Ventricular Dysfunction Compared With Dilated Cardiomyopathy.
Hazebroek MR, Krapels I, Verdonschot J, van den Wijngaard A, Vanhoutte E, Hoos M, Snijders L, van Montfort L, Witjens M, Dennert R, Crijns HJGM, Brunner-La Rocca HP, Brunner HG, Heymans S. Hazebroek MR, et al. Circ Heart Fail. 2018 Mar;11(3):e004682. doi: 10.1161/CIRCHEARTFAILURE.117.004682. Circ Heart Fail. 2018. PMID: 29540472
Implications of Genetic Testing in Dilated Cardiomyopathy.
Verdonschot JAJ, Hazebroek MR, Krapels IPC, Henkens MTHM, Raafs A, Wang P, Merken JJ, Claes GRF, Vanhoutte EK, van den Wijngaard A, Heymans SRB, Brunner HG. Verdonschot JAJ, et al. Among authors: vanhoutte ek. Circ Genom Precis Med. 2020 Oct;13(5):476-487. doi: 10.1161/CIRCGEN.120.003031. Epub 2020 Sep 3. Circ Genom Precis Med. 2020. PMID: 32880476
Metabolic Profiling Associates with Disease Severity in Nonischemic Dilated Cardiomyopathy.
Verdonschot JAJ, Wang P, Van Bilsen M, Hazebroek MR, Merken JJ, Vanhoutte EK, Henkens MTHM, Van Den Wijngaard A, Glatz JFC, Krapels IPC, Brunner HG, Heymans SRB, Bierau J. Verdonschot JAJ, et al. Among authors: vanhoutte ek. J Card Fail. 2020 Mar;26(3):212-222. doi: 10.1016/j.cardfail.2019.09.004. Epub 2019 Sep 18. J Card Fail. 2020. PMID: 31541741 Free article.
Mutations in PDLIM5 are rare in dilated cardiomyopathy but are emerging as potential disease modifiers.
Verdonschot JAJ, Robinson EL, James KN, Mohamed MW, Claes GRF, Casas K, Vanhoutte EK, Hazebroek MR, Kringlen G, Pasierb MM, van den Wijngaard A, Glatz JFC, Heymans SRB, Krapels IPC, Nahas S, Brunner HG, Szklarczyk R. Verdonschot JAJ, et al. Among authors: vanhoutte ek. Mol Genet Genomic Med. 2020 Feb;8(2):e1049. doi: 10.1002/mgg3.1049. Epub 2019 Dec 27. Mol Genet Genomic Med. 2020. PMID: 31880413 Free PMC article.
Optimizing temperature threshold testing in small-fiber neuropathy.
Bakkers M, Faber CG, Reulen JP, Hoeijmakers JG, Vanhoutte EK, Merkies IS. Bakkers M, et al. Among authors: vanhoutte ek. Muscle Nerve. 2015 Jun;51(6):870-6. doi: 10.1002/mus.24473. Epub 2015 Jan 10. Muscle Nerve. 2015. PMID: 25290248
Gain of function Naν1.7 mutations in idiopathic small fiber neuropathy.
Faber CG, Hoeijmakers JG, Ahn HS, Cheng X, Han C, Choi JS, Estacion M, Lauria G, Vanhoutte EK, Gerrits MM, Dib-Hajj S, Drenth JP, Waxman SG, Merkies IS. Faber CG, et al. Among authors: vanhoutte ek. Ann Neurol. 2012 Jan;71(1):26-39. doi: 10.1002/ana.22485. Epub 2011 Jun 22. Ann Neurol. 2012. PMID: 21698661 Clinical Trial.
Impairment measures versus inflammatory RODS in GBS and CIDP: a responsiveness comparison.
Vanhoutte EK, Draak TH, Gorson KC, van Nes SI, Hoeijmakers JG, Van der Pol WL, Notermans NC, Lewis RA, Nobile-Orazio E, Léger JM, Van den Bergh PY, Lauria G, Bril V, Katzberg H, Lunn MP, Pouget J, van der Kooi AJ, Hahn AF, van Doorn PA, Cornblath DR, van den Berg LH, Faber CG, Merkies IS; PeriNomS Study Group. Vanhoutte EK, et al. J Peripher Nerv Syst. 2015 Sep;20(3):289-95. doi: 10.1111/jns.12118. J Peripher Nerv Syst. 2015. PMID: 26114893
The diagnostic yield of whole-exome sequencing targeting a gene panel for hearing impairment in The Netherlands.
Zazo Seco C, Wesdorp M, Feenstra I, Pfundt R, Hehir-Kwa JY, Lelieveld SH, Castelein S, Gilissen C, de Wijs IJ, Admiraal RJ, Pennings RJ, Kunst HP, van de Kamp JM, Tamminga S, Houweling AC, Plomp AS, Maas SM, de Koning Gans PA, Kant SG, de Geus CM, Frints SG, Vanhoutte EK, van Dooren MF, van den Boogaard MH, Scheffer H, Nelen M, Kremer H, Hoefsloot L, Schraders M, Yntema HG. Zazo Seco C, et al. Among authors: vanhoutte ek. Eur J Hum Genet. 2017 Feb;25(3):308-314. doi: 10.1038/ejhg.2016.182. Epub 2016 Dec 21. Eur J Hum Genet. 2017. PMID: 28000701 Free PMC article.
62 results