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Genetic defects in mtDNA-encoded protein translation cause pediatric, mitochondrial cardiomyopathy with early-onset brain disease.
Kamps R, Szklarczyk R, Theunissen TE, Hellebrekers DMEI, Sallevelt SCEH, Boesten IB, de Koning B, van den Bosch BJ, Salomons GS, Simas-Mendes M, Verdijk R, Schoonderwoerd K, de Coo IFM, Vanoevelen JM, Smeets HJM. Kamps R, et al. Among authors: vanoevelen jm. Eur J Hum Genet. 2018 Apr;26(4):537-551. doi: 10.1038/s41431-017-0058-2. Epub 2018 Feb 13. Eur J Hum Genet. 2018. PMID: 29440775 Free PMC article.
Differences in Strength and Timing of the mtDNA Bottleneck between Zebrafish Germline and Non-germline Cells.
Otten AB, Theunissen TE, Derhaag JG, Lambrichs EH, Boesten IB, Winandy M, van Montfoort AP, Tarbashevich K, Raz E, Gerards M, Vanoevelen JM, van den Bosch BJ, Muller M, Smeets HJ. Otten AB, et al. Among authors: vanoevelen jm. Cell Rep. 2016 Jul 19;16(3):622-30. doi: 10.1016/j.celrep.2016.06.023. Epub 2016 Jun 30. Cell Rep. 2016. PMID: 27373161 Free article.
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. 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.
Specific MRI Abnormalities Reveal Severe Perrault Syndrome due to CLPP Defects.
Theunissen TE, Szklarczyk R, Gerards M, Hellebrekers DM, Mulder-Den Hartog EN, Vanoevelen J, Kamps R, de Koning B, Rutledge SL, Schmitt-Mechelke T, van Berkel CG, van der Knaap MS, de Coo IF, Smeets HJ. Theunissen TE, et al. Front Neurol. 2016 Nov 16;7:203. doi: 10.3389/fneur.2016.00203. eCollection 2016. Front Neurol. 2016. PMID: 27899912 Free PMC article.
Whole Exome Sequencing Is the Preferred Strategy to Identify the Genetic Defect in Patients With a Probable or Possible Mitochondrial Cause.
Theunissen TEJ, Nguyen M, Kamps R, Hendrickx AT, Sallevelt SCEH, Gottschalk RWH, Calis CM, Stassen APM, de Koning B, Mulder-Den Hartog ENM, Schoonderwoerd K, Fuchs SA, Hilhorst-Hofstee Y, de Visser M, Vanoevelen J, Szklarczyk R, Gerards M, de Coo IFM, Hellebrekers DMEI, Smeets HJM. Theunissen TEJ, et al. Front Genet. 2018 Oct 12;9:400. doi: 10.3389/fgene.2018.00400. eCollection 2018. Front Genet. 2018. PMID: 30369941 Free PMC article.
46 results