de Coo IF - Search Results

1

Increased risk for cardiorespiratory failure associated with the A3302G mutation in the mitochondrial DNA encoded tRNALeu(UUR) gene.

van den Bosch BJ, de Coo IF, Hendrickx AT, Busch HF, de Jong G, Scholte HR, Smeets HJ. van den Bosch BJ, et al. Among authors: de coo if, de jong g. Neuromuscul Disord. 2004 Oct;14(10):683-8. doi: 10.1016/j.nmd.2004.06.004. Neuromuscul Disord. 2004. PMID: 15351426

2

A novel mitochondrial m.4414T>C MT-TM gene variant causing progressive external ophthalmoplegia and myopathy.

Hellebrekers DMEI, Blakely EL, Hendrickx ATM, Hardy SA, Hopton S, Falkous G, de Coo IFM, Smeets HJM, van der Beek NME, Taylor RW. Hellebrekers DMEI, et al. Neuromuscul Disord. 2019 Sep;29(9):693-697. doi: 10.1016/j.nmd.2019.08.005. Epub 2019 Aug 21. Neuromuscul Disord. 2019. PMID: 31488384 Free article.

3

Transmission and prenatal diagnosis of the T9176C mitochondrial DNA mutation.

Jacobs LJ, de Coo IF, Nijland JG, Galjaard RJ, Los FJ, Schoonderwoerd K, Niermeijer MF, Geraedts JP, Scholte HR, Smeets HJ. Jacobs LJ, et al. Among authors: de coo if. Mol Hum Reprod. 2005 Mar;11(3):223-8. doi: 10.1093/molehr/gah152. Epub 2005 Feb 11. Mol Hum Reprod. 2005. PMID: 15709156

4

Chip-based mtDNA mutation screening enables fast and reliable genetic diagnosis of OXPHOS patients.

van Eijsden RG, Gerards M, Eijssen LM, Hendrickx AT, Jongbloed RJ, Wokke JH, Hintzen RQ, Rubio-Gozalbo ME, De Coo IF, Briem E, Tiranti V, Smeets HJ. van Eijsden RG, et al. Among authors: de coo if. Genet Med. 2006 Oct;8(10):620-7. doi: 10.1097/01.gim.0000237782.94878.05. Genet Med. 2006. PMID: 17079878 Free article.

5

Riboflavin-responsive oxidative phosphorylation complex I deficiency caused by defective ACAD9: new function for an old gene.

Gerards M, van den Bosch BJ, Danhauser K, Serre V, van Weeghel M, Wanders RJ, Nicolaes GA, Sluiter W, Schoonderwoerd K, Scholte HR, Prokisch H, Rötig A, de Coo IF, Smeets HJ. Gerards M, et al. Among authors: de coo if. Brain. 2011 Jan;134(Pt 1):210-9. doi: 10.1093/brain/awq273. Epub 2010 Oct 7. Brain. 2011. PMID: 20929961

6

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: de coo if, de die smulders ce. 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.

7

Whole exome sequencing reveals a homozygous C1QBP deletion as the cause of progressive external ophthalmoplegia and multiple mtDNA deletions.

Guo L, Govindaraj P, Kievit M, de Coo IFM, Gerards M, Hellebrekers DMEI, Stassen APM, Gayathri N, Taly AB, Sankaran BP, Smeets HJM. Guo L, et al. Neuromuscul Disord. 2021 Sep;31(9):859-864. doi: 10.1016/j.nmd.2021.06.014. Epub 2021 Jul 4. Neuromuscul Disord. 2021. PMID: 34419324 Free article.

8

Pearson syndrome and the role of deletion dimers and duplications in the mtDNA.

Jacobs LJ, Jongbloed RJ, Wijburg FA, de Klerk JB, Geraedts JP, Nijland JG, Scholte HR, de Coo IF, Smeets HJ. Jacobs LJ, et al. Among authors: de coo if, de klerk jb. J Inherit Metab Dis. 2004;27(1):47-55. doi: 10.1023/B:BOLI.0000016601.49372.18. J Inherit Metab Dis. 2004. PMID: 14970745

9

The transmission of OXPHOS disease and methods to prevent this.

Jacobs LJ, de Wert G, Geraedts JP, de Coo IF, Smeets HJ. Jacobs LJ, et al. Among authors: de coo if, de wert g. Hum Reprod Update. 2006 Mar-Apr;12(2):119-36. doi: 10.1093/humupd/dmi042. Epub 2005 Sep 30. Hum Reprod Update. 2006. PMID: 16199488 Review.

10

Mutations in the ND5 subunit of complex I of the mitochondrial DNA are a frequent cause of oxidative phosphorylation disease.

Blok MJ, Spruijt L, de Coo IF, Schoonderwoerd K, Hendrickx A, Smeets HJ. Blok MJ, et al. Among authors: de coo if. J Med Genet. 2007 Apr;44(4):e74. doi: 10.1136/jmg.2006.045716. J Med Genet. 2007. PMID: 17400793 Free PMC article.

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