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Results: 1 to 20 of 180

1.

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.

PMID:
9683613
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

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.

PMID:
9634533
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

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
[PubMed - indexed for MEDLINE]
Free Article
4.

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
[PubMed - indexed for MEDLINE]
5.

Novel 7-DHCR mutation in a child with Smith-Lemli-Opitz syndrome.

Patrono C, Rizzo C, Tessa A, Giannotti A, Borrelli P, Carrozzo R, Piemonte F, Bertini E, Dionisi-Vici C, Santorelli FM.

Am J Med Genet. 2000 Mar 13;91(2):138-40.

PMID:
10748414
[PubMed - indexed for MEDLINE]
6.

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.

PMID:
9653161
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

Markedly inhibited 7-dehydrocholesterol-delta 7-reductase activity in liver microsomes from Smith-Lemli-Opitz homozygotes.

Shefer S, Salen G, Batta AK, Honda A, Tint GS, Irons M, Elias ER, Chen TC, Holick MF.

J Clin Invest. 1995 Oct;96(4):1779-85.

PMID:
7560069
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

Rapid identification of Smith-Lemli-Opitz syndrome homozygotes and heterozygotes (carriers) by measurement of deficient 7-dehydrocholesterol-delta 7-reductase activity in fibroblasts.

Shefer S, Salen G, Honda A, Batta A, Hauser S, Tint GS, Honda M, Chen T, Holick MF, Nguyen LB.

Metabolism. 1997 Jul;46(7):844-50.

PMID:
9225842
[PubMed - indexed for MEDLINE]
9.

Smith-Lemli-Opitz syndrome and the DHCR7 gene.

Jira PE, Waterham HR, Wanders RJ, Smeitink JA, Sengers RC, Wevers RA.

Ann Hum Genet. 2003 May;67(Pt 3):269-80. Review.

PMID:
12914579
[PubMed - indexed for MEDLINE]
10.

Molecular cloning and expression of the human delta7-sterol reductase.

Moebius FF, Fitzky BU, Lee JN, Paik YK, Glossmann H.

Proc Natl Acad Sci U S A. 1998 Feb 17;95(4):1899-902.

PMID:
9465114
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

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.

PMID:
10814720
[PubMed - indexed for MEDLINE]
Free Article
13.

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.

J Med Genet. 2004 Aug;41(8):577-84.

PMID:
15286151
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

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.

PMID:
10677299
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

Photosensitive Smith-Lemli-Opitz syndrome is not caused by a single gene mutation: analysis of the gene encoding 7-dehydrocholesterol reductase in five U.K. families.

Anstey AV, Azurdia RM, Rhodes LE, Pearse AD, Bowden PE.

Br J Dermatol. 2005 Oct;153(4):774-9.

PMID:
16181459
[PubMed - indexed for MEDLINE]
16.

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.

PMID:
10602371
[PubMed - indexed for MEDLINE]
Free Article
17.

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
[PubMed - indexed for MEDLINE]
18.
19.

Abnormal cholesterol biosynthesis in the Smith-Lemli-Opitz syndrome.

Salen G, Shefer S, Batta AK, Tint GS, Xu G, Honda A, Irons M, Elias ER.

J Lipid Res. 1996 Jun;37(6):1169-80. Review.

PMID:
8808751
[PubMed - indexed for MEDLINE]
Free Article
20.

Abnormal cholesterol biosynthesis in sitosterolaemia and the Smith-Lemli-Opitz syndrome.

Salen G, Shefer S, Batta AK, Tint GS, Xu G, Honda A.

J Inherit Metab Dis. 1996;19(4):391-400. Review.

PMID:
8884563
[PubMed - indexed for MEDLINE]

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