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Items: 1 to 20 of 328

1.

Mutations in the human sterol delta7-reductase gene at 11q12-13 cause Smith-Lemli-Opitz syndrome.

Wassif CA, Maslen C, Kachilele-Linjewile S, Lin D, Linck LM, Connor WE, Steiner RD, Porter FD.

Am J Hum Genet. 1998 Jul;63(1):55-62.

2.

Smith-Lemli-Opitz syndrome is caused by mutations in the 7-dehydrocholesterol reductase gene.

Waterham HR, Wijburg FA, Hennekam RC, Vreken P, Poll-The BT, Dorland L, Duran M, Jira PE, Smeitink JA, Wevers RA, Wanders RJ.

Am J Hum Genet. 1998 Aug;63(2):329-38.

3.

3beta-hydroxysterol Delta7-reductase and the Smith-Lemli-Opitz syndrome.

Correa-Cerro LS, Porter FD.

Mol Genet Metab. 2005 Feb;84(2):112-26. Epub 2004 Dec 19. Review.

PMID:
15670717
4.

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.

Eur J Hum Genet. 2001 Jan;9(1):45-50.

5.

Residual cholesterol synthesis and simvastatin induction of cholesterol synthesis in Smith-Lemli-Opitz syndrome fibroblasts.

Wassif CA, Krakowiak PA, Wright BS, Gewandter JS, Sterner AL, Javitt N, Yergey AL, Porter FD.

Mol Genet Metab. 2005 Jun;85(2):96-107. Epub 2005 Feb 5.

PMID:
15896653
6.

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.

J Med Genet. 2008 Apr;45(4):200-9. Epub 2007 Oct 26.

PMID:
17965227
7.

Mutations in the Delta7-sterol reductase gene in patients with the Smith-Lemli-Opitz syndrome.

Fitzky BU, Witsch-Baumgartner M, Erdel M, Lee JN, Paik YK, Glossmann H, Utermann G, Moebius FF.

Proc Natl Acad Sci U S A. 1998 Jul 7;95(14):8181-6.

8.

Lowered DHCR7 activity measured by ergosterol conversion in multiple cell types in Smith-Lemli-Opitz syndrome.

Ginat S, Battaile KP, Battaile BC, Maslen C, Gibson KM, Steiner RD.

Mol Genet Metab. 2004 Sep-Oct;83(1-2):175-83.

PMID:
15464432
9.

Two novel mutations of the human delta7-sterol reductase (DHCR7) gene in children with Smith-Lemli-Opitz syndrome.

Patrono C, Dionisi-Vici C, Giannotti A, Bembi B, Digilio MC, Rizzo C, Purificato C, Martini C, Pierini R, Santorelli FM.

Mol Cell Probes. 2002 Aug;16(4):315-8.

PMID:
12270273
11.

Holoprosencephaly in RSH/Smith-Lemli-Opitz syndrome: does abnormal cholesterol metabolism affect the function of Sonic Hedgehog?

Kelley RL, Roessler E, Hennekam RC, Feldman GL, Kosaki K, Jones MC, Palumbos JC, Muenke M.

Am J Med Genet. 1996 Dec 30;66(4):478-84.

PMID:
8989473
12.
13.

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.

Am J Hum Genet. 2000 Feb;66(2):402-12.

14.

Mutations in the human DHCR7 gene.

Witsch-Baumgartner M, Löffler J, Utermann G.

Hum Mutat. 2001 Mar;17(3):172-82.

PMID:
11241839
15.

Spectrum of Delta(7)-dehydrocholesterol reductase mutations in patients with the Smith-Lemli-Opitz (RSH) syndrome.

Yu H, Lee MH, Starck L, Elias ER, Irons M, Salen G, Patel SB, Tint GS.

Hum Mol Genet. 2000 May 22;9(9):1385-91. Erratum in: Hum Mol Genet 2000 Jul 22;9(12):1903.

16.

A novel mutation of the DHCR7 gene in a sicilian compound heterozygote with Smith-Lemli-Opitz Syndrome.

Romano F, Fiore B, Pezzino FM, Longombardo MT, Cefalù AB, Noto D, Puglisi A, Brogna A, Mattina T, Averna M, Travali S.

Mol Diagn. 2005;9(4):201-4.

PMID:
16392899
17.

Molecular prenatal diagnosis of Smith-Lemli-Opitz syndrome is reliable and efficient.

Loeffler J, Utermann G, Witsch-Baumgartner M.

Prenat Diagn. 2002 Sep;22(9):827-30.

PMID:
12224080
18.

Smith-Lemli-Opitz syndrome: evidence of T93M as a common mutation of delta7-sterol reductase in Italy and report of three novel mutations.

De Brasi D, Esposito T, Rossi M, Parenti G, Sperandeo MP, Zuppaldi A, Bardaro T, Ambruzzi MA, Zelante L, Ciccodicola A, Sebastio G, D'Urso M, Andria G.

Eur J Hum Genet. 1999 Dec;7(8):937-40.

19.

Identification of nine novel DHCR7 missense mutations in patients with Smith-Lemli-Opitz syndrome (SLOS).

Waye JS, Krakowiak PA, Wassif CA, Sterner AL, Eng B, Nakamura LM, Nowaczyk MJ, Porter FD.

Hum Mutat. 2005 Jul;26(1):59.

PMID:
15954111
20.

Biochemical and genetic aspects of 7-dehydrocholesterol reductase and Smith-Lemli-Opitz syndrome.

Waterham HR, Wanders RJ.

Biochim Biophys Acta. 2000 Dec 15;1529(1-3):340-56. Review.

PMID:
11111101
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