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Page 1
Characterization of large deletions in the DHCR7 gene.
Lanthaler B, Hinderhofer K, Maas B, Haas D, Sawyer H, Burton-Jones S, Carter K, Suri M, Witsch-Baumgartner M. Lanthaler B, et al. Clin Genet. 2015 Aug;88(2):149-54. doi: 10.1111/cge.12454. Epub 2014 Oct 21. Clin Genet. 2015. PMID: 25040602
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
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
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.
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
High frequency of p.Thr93Met in Smith-Lemli-Opitz syndrome patients in Turkey.
Kalb S, Caglayan AO, Degerliyurt A, Schmid S, Ceylaner S, Hatipoglu N, Hinderhofer K, Rehder H, Kurtoglu S, Ceylaner G, Zschocke J, Witsch-Baumgartner M. Kalb S, et al. Clin Genet. 2012 Jun;81(6):598-601. doi: 10.1111/j.1399-0004.2011.01750.x. Epub 2011 Dec 28. Clin Genet. 2012. PMID: 22211794 No abstract available.
44 results