Smeets HJ - Search Results

1

Novel pathogenic SLC25A46 splice-site mutation causes an optic atrophy spectrum disorder.

Nguyen M, Boesten I, Hellebrekers DM, Mulder-den Hartog NM, de Coo IF, Smeets HJ, Gerards M. Nguyen M, et al. Among authors: smeets hj. Clin Genet. 2017 Jan;91(1):121-125. doi: 10.1111/cge.12774. Epub 2016 Apr 8. Clin Genet. 2017. PMID: 26951855

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. Among authors: smeets hj. 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. Among authors: smeets hj. 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. Among authors: smeets hj. 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. Among authors: smeets hj. 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

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. Among authors: smeets hj. Kidney Int. 2000 Nov;58(5):1870-5. doi: 10.1111/j.1523-1755.2000.00358.x. Kidney Int. 2000. PMID: 11044206 Free article.

7

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

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: smeets hj. 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

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

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. Among authors: smeets hj. 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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