de Coo IF - Search Results

1

Isolated case of mental retardation and ataxia due to a de novo mitochondrial T8993G mutation.

de Coo IF, Smeets HJ, Gabreëls FJ, Arts N, van Oost BA. de Coo IF, et al. Am J Hum Genet. 1996 Mar;58(3):636-8. Am J Hum Genet. 1996. PMID: 8644724 Free PMC article. No abstract available.

2

Additional mitochondrial DNA mutations may explain extra-ocular involvement in LHON.

Spruijt L, Hoogendijk JE, Hendrickx AT, de Coo IF, Doevendans PA, de Jong PT, Spliet WG, Kroes H, Smeets HJ. Spruijt L, et al. Among authors: de coo if, de jong pt. Am J Med Genet A. 2006 Jul 1;140(13):1478-81. doi: 10.1002/ajmg.a.31324. Am J Med Genet A. 2006. PMID: 16770803 No abstract available.

3

A mitochondrial tRNA(Val) gene mutation (G1642A) in a patient with mitochondrial myopathy, lactic acidosis, and stroke-like episodes.

de Coo IF, Sistermans EA, de Wijs IJ, Catsman-Berrevoets C, Busch HF, Scholte HR, de Klerk JB, van Oost BA, Smeets HJ. de Coo IF, et al. Among authors: de wijs ij, de klerk jb. Neurology. 1998 Jan;50(1):293-5. doi: 10.1212/wnl.50.1.293. Neurology. 1998. PMID: 9443499

4

Identification of an X-chromosomal locus and haplotype modulating the phenotype of a mitochondrial DNA disorder.

Hudson G, Keers S, Yu-Wai-Man P, Griffiths P, Huoponen K, Savontaus ML, Nikoskelainen E, Zeviani M, Carrara F, Horvath R, Karcagi V, Spruijt L, de Coo IF, Smeets HJ, Chinnery PF. Hudson G, et al. Among authors: de coo if. Am J Hum Genet. 2005 Dec;77(6):1086-91. doi: 10.1086/498176. Epub 2005 Oct 11. Am J Hum Genet. 2005. PMID: 16380918 Free PMC article.

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. Among authors: de coo if, de die smulders ce. 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

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

7

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.

8

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.

9

PGD and heteroplasmic mitochondrial DNA point mutations: a systematic review estimating the chance of healthy offspring.

Hellebrekers DM, Wolfe R, Hendrickx AT, de Coo IF, de Die CE, Geraedts JP, Chinnery PF, Smeets HJ. Hellebrekers DM, et al. Among authors: de coo if, de die ce. Hum Reprod Update. 2012 Jul;18(4):341-9. doi: 10.1093/humupd/dms008. Epub 2012 Mar 28. Hum Reprod Update. 2012. PMID: 22456975 Review.

10

A PCR test for progressive external ophthalmoplegia and Kearns-Sayre syndrome on DNA from blood samples.

De Coo IF, Gussinklo T, Arts PJ, Van Oost BA, Smeets HJ. De Coo IF, et al. J Neurol Sci. 1997 Jul;149(1):37-40. doi: 10.1016/s0022-510x(97)05366-5. J Neurol Sci. 1997. PMID: 9168163

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