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Page 1
Mutability of Y-chromosomal microsatellites: rates, characteristics, molecular bases, and forensic implications.
Ballantyne KN, Goedbloed M, Fang R, Schaap O, Lao O, Wollstein A, Choi Y, van Duijn K, Vermeulen M, Brauer S, Decorte R, Poetsch M, von Wurmb-Schwark N, de Knijff P, Labuda D, Vézina H, Knoblauch H, Lessig R, Roewer L, Ploski R, Dobosz T, Henke L, Henke J, Furtado MR, Kayser M. Ballantyne KN, et al. Among authors: goedbloed m. Am J Hum Genet. 2010 Sep 10;87(3):341-53. doi: 10.1016/j.ajhg.2010.08.006. Am J Hum Genet. 2010. PMID: 20817138 Free PMC article.
Comprehensive mutation analysis of 17 Y-chromosomal short tandem repeat polymorphisms included in the AmpFlSTR Yfiler PCR amplification kit.
Goedbloed M, Vermeulen M, Fang RN, Lembring M, Wollstein A, Ballantyne K, Lao O, Brauer S, Krüger C, Roewer L, Lessig R, Ploski R, Dobosz T, Henke L, Henke J, Furtado MR, Kayser M. Goedbloed M, et al. Int J Legal Med. 2009 Nov;123(6):471-82. doi: 10.1007/s00414-009-0342-y. Epub 2009 Mar 26. Int J Legal Med. 2009. PMID: 19322579 Free PMC article.
Missense mutations to the TSC1 gene cause tuberous sclerosis complex.
Nellist M, van den Heuvel D, Schluep D, Exalto C, Goedbloed M, Maat-Kievit A, van Essen T, van Spaendonck-Zwarts K, Jansen F, Helderman P, Bartalini G, Vierimaa O, Penttinen M, van den Ende J, van den Ouweland A, Halley D. Nellist M, et al. Among authors: goedbloed m. Eur J Hum Genet. 2009 Mar;17(3):319-28. doi: 10.1038/ejhg.2008.170. Epub 2008 Oct 1. Eur J Hum Genet. 2009. PMID: 18830229 Free PMC article.
Mutational analysis of the TSC1 and TSC2 genes in a diagnostic setting: genotype--phenotype correlations and comparison of diagnostic DNA techniques in Tuberous Sclerosis Complex.
Sancak O, Nellist M, Goedbloed M, Elfferich P, Wouters C, Maat-Kievit A, Zonnenberg B, Verhoef S, Halley D, van den Ouweland A. Sancak O, et al. Among authors: goedbloed m. Eur J Hum Genet. 2005 Jun;13(6):731-41. doi: 10.1038/sj.ejhg.5201402. Eur J Hum Genet. 2005. PMID: 15798777
Large deletion at the TSC1 locus in a family with tuberous sclerosis complex.
Nellist M, Sancak O, Goedbloed MA, van Veghel-Plandsoen M, Maat-Kievit A, Lindhout D, Eussen BH, de Klein A, Halley DJ, van den Ouweland AM. Nellist M, et al. Among authors: goedbloed ma. Genet Test. 2005 Fall;9(3):226-30. doi: 10.1089/gte.2005.9.226. Genet Test. 2005. PMID: 16225402
30 results