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Human Variome Project country nodes: documenting genetic information within a country.
Patrinos GP, Smith TD, Howard H, Al-Mulla F, Chouchane L, Hadjisavvas A, Hamed SA, Li XT, Marafie M, Ramesar RS, Ramos FJ, de Ravel T, El-Ruby MO, Shrestha TR, Sobrido MJ, Tadmouri G, Witsch-Baumgartner M, Zilfalil BA, Auerbach AD, Carpenter K, Cutting GR, Dung VC, Grody W, Hasler J, Jorde L, Kaput J, Macek M, Matsubara Y, Padilla C, Robinson H, Rojas-Martinez A, Taylor GR, Vihinen M, Weber T, Burn J, Qi M, Cotton RG, Rimoin D; International Confederation of Countries Advisory Council. Patrinos GP, et al. Hum Mutat. 2012 Nov;33(11):1513-9. doi: 10.1002/humu.22147. Epub 2012 Jul 18. Hum Mutat. 2012. PMID: 22753370
Mutations in the human DHCR7 gene.
Witsch-Baumgartner M, Löffler J, Utermann G. Witsch-Baumgartner M, et al. Hum Mutat. 2001 Mar;17(3):172-82. doi: 10.1002/humu.2. Hum Mutat. 2001. PMID: 11241839
Frequency gradients of DHCR7 mutations in patients with Smith-Lemli-Opitz syndrome in Europe: evidence for different origins of common mutations.
Witsch-Baumgartner M, Ciara E, Löffler J, Menzel HJ, Seedorf U, Burn J, Gillessen-Kaesbach G, Hoffmann GF, Fitzky BU, Mundy H, Clayton P, Kelley RI, Krajewska-Walasek M, Utermann G. Witsch-Baumgartner M, et al. Eur J Hum Genet. 2001 Jan;9(1):45-50. doi: 10.1038/sj.ejhg.5200579. Eur J Hum Genet. 2001. PMID: 11175299
Age and origin of major Smith-Lemli-Opitz syndrome (SLOS) mutations in European populations.
Witsch-Baumgartner M, Schwentner I, Gruber M, Benlian P, Bertranpetit J, Bieth E, Chevy F, Clusellas N, Estivill X, Gasparini G, Giros M, Kelley RI, Krajewska-Walasek M, Menzel J, Miettinen T, Ogorelkova M, Rossi M, Scala I, Schinzel A, Schmidt K, Schönitzer D, Seemanova E, Sperling K, Syrrou M, Talmud PJ, Wollnik B, Krawczak M, Labuda D, Utermann G. Witsch-Baumgartner M, et al. J Med Genet. 2008 Apr;45(4):200-9. doi: 10.1136/jmg.2007.053520. Epub 2007 Oct 26. J Med Genet. 2008. PMID: 17965227
Maternal apo E genotype is a modifier of the Smith-Lemli-Opitz syndrome.
Witsch-Baumgartner M, Gruber M, Kraft HG, Rossi M, Clayton P, Giros M, Haas D, Kelley RI, Krajewska-Walasek M, Utermann G. Witsch-Baumgartner M, et al. J Med Genet. 2004 Aug;41(8):577-84. doi: 10.1136/jmg.2004.018085. J Med Genet. 2004. PMID: 15286151 Free PMC article.
45 results