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DHPLC analysis of potassium ion channel genes in congenital long QT syndrome.
Jongbloed R, Marcelis C, Velter C, Doevendans P, Geraedts J, Smeets H. Jongbloed R, et al. Among authors: smeets h. Hum Mutat. 2002 Nov;20(5):382-91. doi: 10.1002/humu.10131. Hum Mutat. 2002. PMID: 12402336
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
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. Among authors: smeets h. Mol Hum Reprod. 2007 Mar;13(3):149-54. doi: 10.1093/molehr/gal112. Epub 2007 Jan 26. Mol Hum Reprod. 2007. PMID: 17259224
A MELAS-associated ND1 mutation causing leber hereditary optic neuropathy and spastic dystonia.
Spruijt L, Smeets HJ, Hendrickx A, Bettink-Remeijer MW, Maat-Kievit A, Schoonderwoerd KC, Sluiter W, de Coo IF, Hintzen RQ. Spruijt L, et al. Among authors: smeets hj. Arch Neurol. 2007 Jun;64(6):890-3. doi: 10.1001/archneur.64.6.890. Arch Neurol. 2007. PMID: 17562939
Preimplantation genetic diagnosis in mitochondrial DNA disorders: challenge and success.
Sallevelt SC, Dreesen JC, DrĂ¼sedau M, Spierts S, Coonen E, van Tienen FH, van Golde RJ, de Coo IF, Geraedts JP, de Die-Smulders CE, Smeets HJ. Sallevelt SC, et al. Among authors: smeets hj. J Med Genet. 2013 Feb;50(2):125-32. doi: 10.1136/jmedgenet-2012-101172. J Med Genet. 2013. PMID: 23339111
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: smeets hj. 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.
PGD for the m.14487 T>C mitochondrial DNA mutation resulted in the birth of a healthy boy.
Sallevelt SC, Dreesen JC, DrĂ¼sedau M, Hellebrekers DM, Paulussen AD, Coonen E, van Golde RJ, Geraedts JP, Gianaroli L, Magli MC, Zeviani M, Smeets HJ, de Die-Smulders CE. Sallevelt SC, et al. Among authors: smeets hj. Hum Reprod. 2017 Mar 1;32(3):698-703. doi: 10.1093/humrep/dew356. Hum Reprod. 2017. PMID: 28122886
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