Smeets HJM - Search Results

1

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: smeets hjm. 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.

2

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.

3

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

4

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. Neurology. 1998 Jan;50(1):293-5. doi: 10.1212/wnl.50.1.293. Neurology. 1998. PMID: 9443499

5

A 4-base pair deletion in the mitochondrial cytochrome b gene associated with parkinsonism/MELAS overlap syndrome.

De Coo IF, Renier WO, Ruitenbeek W, Ter Laak HJ, Bakker M, Schägger H, Van Oost BA, Smeets HJ. De Coo IF, et al. Ann Neurol. 1999 Jan;45(1):130-3. doi: 10.1002/1531-8249(199901)45:1<130::aid-art21>3.3.co;2-q. Ann Neurol. 1999. PMID: 9894888

6

Mutation analysis of the entire mitochondrial genome using denaturing high performance liquid chromatography.

van Den Bosch BJ, de Coo RF, Scholte HR, Nijland JG, van Den Bogaard R, de Visser M, de Die-Smulders CE, Smeets HJ. van Den Bosch BJ, et al. Nucleic Acids Res. 2000 Oct 15;28(20):E89. doi: 10.1093/nar/28.20.e89. Nucleic Acids Res. 2000. PMID: 11024191 Free PMC article.

7

Autosomal dominant Alport syndrome caused by a COL4A3 splice site mutation.

van der Loop FT, Heidet L, Timmer ED, van den Bosch BJ, Leinonen A, Antignac C, Jefferson JA, Maxwell AP, Monnens LA, Schröder CH, Smeets HJ. van der Loop FT, et al. Kidney Int. 2000 Nov;58(5):1870-5. doi: 10.1111/j.1523-1755.2000.00358.x. Kidney Int. 2000. PMID: 11044206 Free article.

8

An out-of-frame cytochrome b gene deletion from a patient with parkinsonism is associated with impaired complex III assembly and an increase in free radical production.

Rana M, de Coo I, Diaz F, Smeets H, Moraes CT. Rana M, et al. Ann Neurol. 2000 Nov;48(5):774-81. Ann Neurol. 2000. PMID: 11079541

9

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. J Inherit Metab Dis. 2004;27(1):47-55. doi: 10.1023/B:BOLI.0000016601.49372.18. J Inherit Metab Dis. 2004. PMID: 14970745

10

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. Neuromuscul Disord. 2004 Oct;14(10):683-8. doi: 10.1016/j.nmd.2004.06.004. Neuromuscul Disord. 2004. PMID: 15351426

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