Smeets HJ - Search Results

1

Replication Errors Made During Oogenesis Lead to Detectable De Novo mtDNA Mutations in Zebrafish Oocytes with a Low mtDNA Copy Number.

Otten AB, Stassen AP, Adriaens M, Gerards M, Dohmen RG, Timmer AJ, Vanherle SJ, Kamps R, Boesten IB, Vanoevelen JM, Muller M, Smeets HJ. Otten AB, et al. Among authors: smeets hj. Genetics. 2016 Dec;204(4):1423-1431. doi: 10.1534/genetics.116.194035. Epub 2016 Oct 21. Genetics. 2016. PMID: 27770035 Free PMC article.

2

Chip-based mtDNA mutation screening enables fast and reliable genetic diagnosis of OXPHOS patients.

van Eijsden RG, Gerards M, Eijssen LM, Hendrickx AT, Jongbloed RJ, Wokke JH, Hintzen RQ, Rubio-Gozalbo ME, De Coo IF, Briem E, Tiranti V, Smeets HJ. van Eijsden RG, et al. Among authors: smeets hj. Genet Med. 2006 Oct;8(10):620-7. doi: 10.1097/01.gim.0000237782.94878.05. Genet Med. 2006. PMID: 17079878 Free article.

3

mtDNA point mutations are present at various levels of heteroplasmy in human oocytes.

Jacobs L, Gerards M, Chinnery P, Dumoulin J, de Coo I, Geraedts J, Smeets H. Jacobs L, et al. Mol Hum Reprod. 2007 Mar;13(3):149-54. doi: 10.1093/molehr/gal112. Epub 2007 Jan 26. Mol Hum Reprod. 2007. PMID: 17259224

4

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: smeets hj. J Med Genet. 2007 Apr;44(4):e74. doi: 10.1136/jmg.2006.045716. J Med Genet. 2007. PMID: 17400793 Free PMC article.

5

Termination of damaged protein repair defines the occurrence of symptoms in carriers of the m.3243A > G tRNA(Leu) mutation.

van Eijsden RG, Eijssen LM, Lindsey PJ, van den Burg CM, de Wit LE, Rubio-Gozalbo ME, de Die CE, Ayoubi T, Sluiter W, de Coo IF, Smeets HJ. van Eijsden RG, et al. Among authors: smeets hj. J Med Genet. 2008 Aug;45(8):525-34. doi: 10.1136/jmg.2008.057497. Epub 2008 May 2. J Med Genet. 2008. PMID: 18456717

6

Common SNPs in LEP and LEPR associated with birth weight and type 2 diabetes-related metabolic risk factors in twins.

Souren NY, Paulussen AD, Steyls A, Loos RJ, Stassen AP, Gielen M, Smeets HJ, Beunen G, Fagard R, Derom C, Vlietinck R, Geraedts JP, Zeegers MP. Souren NY, et al. Among authors: smeets hj. Int J Obes (Lond). 2008 Aug;32(8):1233-9. doi: 10.1038/ijo.2008.68. Epub 2008 May 20. Int J Obes (Lond). 2008. PMID: 18490929

7

Defective complex I assembly due to C20orf7 mutations as a new cause of Leigh syndrome.

Gerards M, Sluiter W, van den Bosch BJ, de Wit LE, Calis CM, Frentzen M, Akbari H, Schoonderwoerd K, Scholte HR, Jongbloed RJ, Hendrickx AT, de Coo IF, Smeets HJ. Gerards M, et al. Among authors: smeets hj. J Med Genet. 2010 Aug;47(8):507-12. doi: 10.1136/jmg.2009.067553. Epub 2009 Jun 18. J Med Genet. 2010. PMID: 19542079 Free PMC article.

8

The unfolding clinical spectrum of POLG mutations.

Blok MJ, van den Bosch BJ, Jongen E, Hendrickx A, de Die-Smulders CE, Hoogendijk JE, Brusse E, de Visser M, Poll-The BT, Bierau J, de Coo IF, Smeets HJ. Blok MJ, et al. Among authors: smeets hj. J Med Genet. 2009 Nov;46(11):776-85. doi: 10.1136/jmg.2009.067686. Epub 2009 Jul 2. J Med Genet. 2009. PMID: 19578034

9

Nonsense mutations in CABC1/ADCK3 cause progressive cerebellar ataxia and atrophy.

Gerards M, van den Bosch B, Calis C, Schoonderwoerd K, van Engelen K, Tijssen M, de Coo R, van der Kooi A, Smeets H. Gerards M, et al. Mitochondrion. 2010 Aug;10(5):510-5. doi: 10.1016/j.mito.2010.05.008. Epub 2010 May 23. Mitochondrion. 2010. PMID: 20580948

10

Electrical signals affect the cardiomyocyte transcriptome independently of contraction.

Martherus RS, Vanherle SJ, Timmer ED, Zeijlemaker VA, Broers JL, Smeets HJ, Geraedts JP, Ayoubi TA. Martherus RS, et al. Among authors: smeets hj. Physiol Genomics. 2010 Nov 29;42A(4):283-9. doi: 10.1152/physiolgenomics.00182.2009. Epub 2010 Sep 21. Physiol Genomics. 2010. PMID: 20858713

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