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Mutational spectrum in the Delta7-sterol reductase gene and genotype-phenotype correlation in 84 patients with Smith-Lemli-Opitz syndrome.
Witsch-Baumgartner M, Fitzky BU, Ogorelkova M, Kraft HG, Moebius FF, Glossmann H, Seedorf U, Gillessen-Kaesbach G, Hoffmann GF, Clayton P, Kelley RI, Utermann G. Witsch-Baumgartner M, et al. Among authors: fitzky bu. Am J Hum Genet. 2000 Feb;66(2):402-12. doi: 10.1086/302760. Am J Hum Genet. 2000. PMID: 10677299 Free PMC article.
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. Among authors: fitzky bu. Eur J Hum Genet. 2001 Jan;9(1):45-50. doi: 10.1038/sj.ejhg.5200579. Eur J Hum Genet. 2001. PMID: 11175299
7-Dehydrocholesterol-dependent proteolysis of HMG-CoA reductase suppresses sterol biosynthesis in a mouse model of Smith-Lemli-Opitz/RSH syndrome.
Fitzky BU, Moebius FF, Asaoka H, Waage-Baudet H, Xu L, Xu G, Maeda N, Kluckman K, Hiller S, Yu H, Batta AK, Shefer S, Chen T, Salen G, Sulik K, Simoni RD, Ness GC, Glossmann H, Patel SB, Tint GS. Fitzky BU, et al. J Clin Invest. 2001 Sep;108(6):905-15. doi: 10.1172/JCI12103. J Clin Invest. 2001. PMID: 11560960 Free PMC article.
Genetic defects in postsqualene cholesterol biosynthesis.
Moebius FF, Fitzky BU, Glossmann H. Moebius FF, et al. Among authors: fitzky bu. Trends Endocrinol Metab. 2000 Apr;11(3):106-14. doi: 10.1016/s1043-2760(00)00235-6. Trends Endocrinol Metab. 2000. PMID: 10707051 Review.
11 results