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498 results

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Page 1
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: brunner hg. 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.
Identification of pathogenic gene variants in small families with intellectually disabled siblings by exome sequencing.
Schuurs-Hoeijmakers JH, Vulto-van Silfhout AT, Vissers LE, van de Vondervoort II, van Bon BW, de Ligt J, Gilissen C, Hehir-Kwa JY, Neveling K, del Rosario M, Hira G, Reitano S, Vitello A, Failla P, Greco D, Fichera M, Galesi O, Kleefstra T, Greally MT, Ockeloen CW, Willemsen MH, Bongers EM, Janssen IM, Pfundt R, Veltman JA, Romano C, Willemsen MA, van Bokhoven H, Brunner HG, de Vries BB, de Brouwer AP. Schuurs-Hoeijmakers JH, et al. Among authors: brunner hg. J Med Genet. 2013 Dec;50(12):802-11. doi: 10.1136/jmedgenet-2013-101644. Epub 2013 Oct 11. J Med Genet. 2013. PMID: 24123876
Hypertrophic remodelling in cardiac regulatory myosin light chain (MYL2) founder mutation carriers.
Claes GR, van Tienen FH, Lindsey P, Krapels IP, Helderman-van den Enden AT, Hoos MB, Barrois YE, Janssen JW, Paulussen AD, Sels JW, Kuijpers SH, van Tintelen JP, van den Berg MP, Heesen WF, Garcia-Pavia P, Perrot A, Christiaans I, Salemink S, Marcelis CL, Smeets HJ, Brunner HG, Volders PG, van den Wijngaard A. Claes GR, et al. Among authors: brunner hg. Eur Heart J. 2016 Jun 14;37(23):1815-22. doi: 10.1093/eurheartj/ehv522. Epub 2015 Oct 24. Eur Heart J. 2016. PMID: 26497160
Rare novel variants in the ZIC3 gene cause X-linked heterotaxy.
Paulussen AD, Steyls A, Vanoevelen J, van Tienen FH, Krapels IP, Claes GR, Chocron S, Velter C, Tan-Sindhunata GM, Lundin C, Valenzuela I, Nagy B, Bache I, Maroun LL, Avela K, Brunner HG, Smeets HJ, Bakkers J, van den Wijngaard A. Paulussen AD, et al. Among authors: brunner hg. Eur J Hum Genet. 2016 Dec;24(12):1783-1791. doi: 10.1038/ejhg.2016.91. Epub 2016 Jul 13. Eur J Hum Genet. 2016. PMID: 27406248 Free PMC article.
Propionic acidemia as a cause of adult-onset dilated cardiomyopathy.
Riemersma M, Hazebroek MR, Helderman-van den Enden ATJM, Salomons GS, Ferdinandusse S, Brouwers MCGJ, van der Ploeg L, Heymans S, Glatz JFC, van den Wijngaard A, Krapels IPC, Bierau J, Brunner HG. Riemersma M, et al. Among authors: brunner hg. Eur J Hum Genet. 2017 Nov;25(11):1195-1201. doi: 10.1038/ejhg.2017.127. Epub 2017 Aug 30. Eur J Hum Genet. 2017. PMID: 28853722 Free PMC article.
Titin cardiomyopathy leads to altered mitochondrial energetics, increased fibrosis and long-term life-threatening arrhythmias.
Verdonschot JAJ, Hazebroek MR, Derks KWJ, Barandiarán Aizpurua A, Merken JJ, Wang P, Bierau J, van den Wijngaard A, Schalla SM, Abdul Hamid MA, van Bilsen M, van Empel VPM, Knackstedt C, Brunner-La Rocca HP, Brunner HG, Krapels IPC, Heymans SRB. Verdonschot JAJ, et al. Among authors: brunner la rocca hp, brunner hg. Eur Heart J. 2018 Mar 7;39(10):864-873. doi: 10.1093/eurheartj/ehx808. Eur Heart J. 2018. PMID: 29377983
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. Among authors: brunner la rocca hp, brunner hg. Circ Heart Fail. 2018 Mar;11(3):e004682. doi: 10.1161/CIRCHEARTFAILURE.117.004682. Circ Heart Fail. 2018. PMID: 29540472
Toward clinical and molecular understanding of pathogenic variants in the ZBTB18 gene.
van der Schoot V, de Munnik S, Venselaar H, Elting M, Mancini GMS, Ravenswaaij-Arts CMA, Anderlid BM, Brunner HG, Stevens SJC. van der Schoot V, et al. Among authors: brunner hg. Mol Genet Genomic Med. 2018 May;6(3):393-400. doi: 10.1002/mgg3.387. Epub 2018 Mar 24. Mol Genet Genomic Med. 2018. PMID: 29573576 Free PMC article.
1 in 38 individuals at risk of a dominant medically actionable disease.
Haer-Wigman L, van der Schoot V, Feenstra I, Vulto-van Silfhout AT, Gilissen C, Brunner HG, Vissers LELM, Yntema HG. Haer-Wigman L, et al. Among authors: brunner hg. Eur J Hum Genet. 2019 Feb;27(2):325-330. doi: 10.1038/s41431-018-0284-2. Epub 2018 Oct 5. Eur J Hum Genet. 2019. PMID: 30291343 Free PMC article.
Assessment of fibroblast nuclear morphology aids interpretation of LMNA variants.
van Tienen FHJ, Lindsey PJ, Kamps MAF, Krapels IP, Ramaekers FCS, Brunner HG, van den Wijngaard A, Broers JLV. van Tienen FHJ, et al. Among authors: brunner hg. Eur J Hum Genet. 2019 Mar;27(3):389-399. doi: 10.1038/s41431-018-0294-0. Epub 2018 Nov 12. Eur J Hum Genet. 2019. PMID: 30420677 Free PMC article.
498 results