Sallevelt SC - Search Results

1

Mitochondrial DNA sequence characteristics modulate the size of the genetic bottleneck.

Wilson IJ, Carling PJ, Alston CL, Floros VI, Pyle A, Hudson G, Sallevelt SC, Lamperti C, Carelli V, Bindoff LA, Samuels DC, Wonnapinij P, Zeviani M, Taylor RW, Smeets HJ, Horvath R, Chinnery PF. Wilson IJ, et al. Among authors: sallevelt sc. Hum Mol Genet. 2016 Mar 1;25(5):1031-41. doi: 10.1093/hmg/ddv626. Epub 2016 Jan 5. Hum Mol Genet. 2016. PMID: 26740552 Free PMC article.

2

Preimplantation genetic diagnosis in mitochondrial DNA disorders: challenge and success.

Sallevelt SC, Dreesen JC, Drüsedau M, Spierts S, Coonen E, van Tienen FH, van Golde RJ, de Coo IF, Geraedts JP, de Die-Smulders CE, Smeets HJ. Sallevelt SC, et al. J Med Genet. 2013 Feb;50(2):125-32. doi: 10.1136/jmedgenet-2012-101172. J Med Genet. 2013. PMID: 23339111

3

Preventing the transmission of mitochondrial DNA disorders using prenatal or preimplantation genetic diagnosis.

Smeets HJ, Sallevelt SC, Dreesen JC, de Die-Smulders CE, de Coo IF. Smeets HJ, et al. Among authors: sallevelt sc. Ann N Y Acad Sci. 2015 Sep;1350:29-36. doi: 10.1111/nyas.12866. Epub 2015 Aug 27. Ann N Y Acad Sci. 2015. PMID: 26312584 Review.

4

Leigh syndrome: Resolving the clinical and genetic heterogeneity paves the way for treatment options.

Gerards M, Sallevelt SC, Smeets HJ. Gerards M, et al. Among authors: sallevelt sc. Mol Genet Metab. 2016 Mar;117(3):300-12. doi: 10.1016/j.ymgme.2015.12.004. Epub 2015 Dec 19. Mol Genet Metab. 2016. PMID: 26725255 Review.

5

De novo mtDNA point mutations are common and have a low recurrence risk.

Sallevelt SC, de Die-Smulders CE, Hendrickx AT, Hellebrekers DM, de Coo IF, Alston CL, Knowles C, Taylor RW, McFarland R, Smeets HJ. Sallevelt SC, et al. J Med Genet. 2017 Feb;54(2):73-83. doi: 10.1136/jmedgenet-2016-103876. Epub 2016 Jul 22. J Med Genet. 2017. PMID: 27450679 Free PMC article.

6

Rapid Resolution of Blended or Composite Multigenic Disease in Infants by Whole-Exome Sequencing.

Theunissen TEJ, Sallevelt SCEH, Hellebrekers DMEI, de Koning B, Hendrickx ATM, van den Bosch BJC, Kamps R, Schoonderwoerd K, Szklarczyk R, Mulder-Den Hartog ENM, de Coo IFM, Smeets HJM. Theunissen TEJ, et al. J Pediatr. 2017 Mar;182:371-374.e2. doi: 10.1016/j.jpeds.2016.12.032. Epub 2017 Jan 9. J Pediatr. 2017. PMID: 28081892

7

PGD for the m.14487 T>C mitochondrial DNA mutation resulted in the birth of a healthy boy.

Sallevelt SC, Dreesen JC, Drüsedau M, Hellebrekers DM, Paulussen AD, Coonen E, van Golde RJ, Geraedts JP, Gianaroli L, Magli MC, Zeviani M, Smeets HJ, de Die-Smulders CE. Sallevelt SC, et al. Hum Reprod. 2017 Mar 1;32(3):698-703. doi: 10.1093/humrep/dew356. Hum Reprod. 2017. PMID: 28122886

8

Novel SLC25A32 mutation in a patient with a severe neuromuscular phenotype.

Hellebrekers DMEI, Sallevelt SCEH, Theunissen TEJ, Hendrickx ATM, Gottschalk RW, Hoeijmakers JGJ, Habets DD, Bierau J, Schoonderwoerd KG, Smeets HJM. Hellebrekers DMEI, et al. Eur J Hum Genet. 2017 Jun;25(7):886-888. doi: 10.1038/ejhg.2017.62. Epub 2017 Apr 26. Eur J Hum Genet. 2017. PMID: 28443623 Free PMC article.

9

A comprehensive strategy for exome-based preconception carrier screening.

Sallevelt SCEH, de Koning B, Szklarczyk R, Paulussen ADC, de Die-Smulders CEM, Smeets HJM. Sallevelt SCEH, et al. Genet Med. 2017 May;19(5):583-592. doi: 10.1038/gim.2016.153. Epub 2016 Oct 27. Genet Med. 2017. PMID: 28492530 Free article.

10

Preimplantation genetic diagnosis for mitochondrial DNA mutations: analysis of one blastomere suffices.

Sallevelt SCEH, Dreesen JCFM, Coonen E, Paulussen ADC, Hellebrekers DMEI, de Die-Smulders CEM, Smeets HJM, Lindsey P. Sallevelt SCEH, et al. J Med Genet. 2017 Oct;54(10):693-697. doi: 10.1136/jmedgenet-2017-104633. Epub 2017 Jul 1. J Med Genet. 2017. PMID: 28668821

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