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Consensus recommendations on Epilepsy in Phelan-McDermid syndrome.
de Coo IFM, Jesse S, Le TL, Sala C; European Phelan-McDermid syndrome consortium. de Coo IFM, et al. Eur J Med Genet. 2023 Jun;66(6):104746. doi: 10.1016/j.ejmg.2023.104746. Epub 2023 Mar 24. Eur J Med Genet. 2023. PMID: 36967043 Free article. Review.
Low mitochondrial DNA copy number in buffy coat DNA of primary open-angle glaucoma patients.
Vallbona-Garcia A, Hamers IHJ, van Tienen FHJ, Ochoteco-Asensio J, Berendschot TTJM, de Coo IFM, Benedikter BJ, Webers CAB, Smeets HJM, Gorgels TGMF. Vallbona-Garcia A, et al. Among authors: de coo ifm. Exp Eye Res. 2023 Jul;232:109500. doi: 10.1016/j.exer.2023.109500. Epub 2023 May 11. Exp Eye Res. 2023. PMID: 37178956 Free article.
Renal Phenotype in Mitochondrial Diseases: A Multicenter Study.
Parasyri M, Brandström P, Uusimaa J, Ostergaard E, Hikmat O, Isohanni P, Naess K, de Coo IFM, Nascimento Osorio A, Nuutinen M, Lindberg C, Bindoff LA, Tulinius M, Darin N, Sofou K. Parasyri M, et al. Among authors: de coo ifm. Kidney Dis (Basel). 2022 Jan 24;8(2):148-159. doi: 10.1159/000521148. eCollection 2022 Mar. Kidney Dis (Basel). 2022. PMID: 35527992 Free PMC article.
Phenotypic spectrum and clinical course of single large-scale mitochondrial DNA deletion disease in the paediatric population: a multicentre study.
Björkman K, Vissing J, Østergaard E, Bindoff LA, de Coo IFM, Engvall M, Hikmat O, Isohanni P, Kollberg G, Lindberg C, Majamaa K, Naess K, Uusimaa J, Tulinius M, Darin N. Björkman K, et al. Among authors: de coo ifm. J Med Genet. 2023 Jan;60(1):65-73. doi: 10.1136/jmedgenet-2021-108006. Epub 2021 Dec 6. J Med Genet. 2023. PMID: 34872991 Free PMC article.
Blood biomarkers for assessment of mitochondrial dysfunction: An expert review.
Hubens WHG, Vallbona-Garcia A, de Coo IFM, van Tienen FHJ, Webers CAB, Smeets HJM, Gorgels TGMF. Hubens WHG, et al. Among authors: de coo ifm. Mitochondrion. 2022 Jan;62:187-204. doi: 10.1016/j.mito.2021.10.008. Epub 2021 Nov 2. Mitochondrion. 2022. PMID: 34740866 Free article. Review.
Pathogenic SLIRP variants as a novel cause of autosomal recessive mitochondrial encephalomyopathy with complex I and IV deficiency.
Guo L, Engelen BPH, Hemel IMGM, de Coo IFM, Vreeburg M, Sallevelt SCEH, Hellebrekers DMEI, Jacobs EH, Sadeghi-Niaraki F, van Tienen FHJ, Smeets HJM, Gerards M. Guo L, et al. Among authors: de coo ifm. Eur J Hum Genet. 2021 Dec;29(12):1789-1795. doi: 10.1038/s41431-021-00947-1. Epub 2021 Aug 23. Eur J Hum Genet. 2021. PMID: 34426662 Free PMC article.
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. Among authors: de coo ifm. 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.
Plasma GDF-15 concentration is not elevated in open-angle glaucoma.
Hubens WHG, Kievit MT, Berendschot TTJM, de Coo IFM, Smeets HJM, Webers CAB, Gorgels TGMF. Hubens WHG, et al. Among authors: de coo ifm. PLoS One. 2021 May 28;16(5):e0252630. doi: 10.1371/journal.pone.0252630. eCollection 2021. PLoS One. 2021. PMID: 34048486 Free PMC article.
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