Smeets HJM - Search Results

1

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. Among authors: smeets hjm. 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

2

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

3

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

4

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.

5

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.

6

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

7

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

8

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

9

Regional absence of mitochondria causing energy depletion in the myocardium of muscle LIM protein knockout mice.

van den Bosch BJ, van den Burg CM, Schoonderwoerd K, Lindsey PJ, Scholte HR, de Coo RF, van Rooij E, Rockman HA, Doevendans PA, Smeets HJ. van den Bosch BJ, et al. Cardiovasc Res. 2005 Feb 1;65(2):411-8. doi: 10.1016/j.cardiores.2004.10.025. Cardiovasc Res. 2005. PMID: 15639480

10

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. Mol Hum Reprod. 2005 Mar;11(3):223-8. doi: 10.1093/molehr/gah152. Epub 2005 Feb 11. Mol Hum Reprod. 2005. PMID: 15709156

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