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Items: 1 to 20 of 133

1.

Maternal ABCA1 genotype is associated with severity of Smith-Lemli-Opitz syndrome and with viability of patients homozygous for null mutations.

Lanthaler B, Steichen-Gersdorf E, Kollerits B, Zschocke J, Witsch-Baumgartner M.

Eur J Hum Genet. 2013 Mar;21(3):286-93. doi: 10.1038/ejhg.2012.169. Epub 2012 Aug 29.

2.

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.

3.

Genotype-based databases for variants causing rare diseases.

Lanthaler B, Wieser S, Deutschmann A, Schossig A, Fauth C, Zschocke J, Witsch-Baumgartner M.

Gene. 2014 Oct 15;550(1):136-40. doi: 10.1016/j.gene.2014.08.016. Epub 2014 Aug 8.

PMID:
25111118
4.

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.

5.

The p.Phe174Ser mutation is associated with mild forms of Smith Lemli Opitz Syndrome.

Tucci A, Ronzoni L, Arduino C, Salmin P, Esposito S, Milani D.

BMC Med Genet. 2016 Mar 11;17:22. doi: 10.1186/s12881-016-0287-1.

6.

Smith-Lemli-Opitz (RHS) syndrome: holoprosencephaly and homozygous IVS8-1G-->C genotype.

Nowaczyk MJ, Farrell SA, Sirkin WL, Velsher L, Krakowiak PA, Waye JS, Porter FD.

Am J Med Genet. 2001 Sep 15;103(1):75-80.

PMID:
11562938
7.

Recent insights into the Smith-Lemli-Opitz syndrome.

Yu H, Patel SB.

Clin Genet. 2005 Nov;68(5):383-91. Review. Erratum in: Clin Genet. 2005 Dec;68(6):570.

8.

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
9.

Mutational spectrum of Smith-Lemli-Opitz syndrome.

Waterham HR, Hennekam RC.

Am J Med Genet C Semin Med Genet. 2012 Nov 15;160C(4):263-84. doi: 10.1002/ajmg.c.31346. Epub 2012 Oct 5. Review.

PMID:
23042628
10.

Characterization of placental cholesterol transport: ABCA1 is a potential target for in utero therapy of Smith-Lemli-Opitz syndrome.

Lindegaard ML, Wassif CA, Vaisman B, Amar M, Wasmuth EV, Shamburek R, Nielsen LB, Remaley AT, Porter FD.

Hum Mol Genet. 2008 Dec 1;17(23):3806-13. doi: 10.1093/hmg/ddn278. Epub 2008 Sep 5.

11.

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.

12.

DHCR7 mutations and genotype-phenotype correlation in 37 Polish patients with Smith-Lemli-Opitz syndrome.

Ciara E, Nowaczyk MJ, Witsch-Baumgartner M, Malunowicz E, Popowska E, Jezela-Stanek A, Piotrowicz M, Waye JS, Utermann G, Krajewska-Walasek M.

Clin Genet. 2004 Dec;66(6):517-24.

PMID:
15521979
13.

Discordant phenotype and sterol biochemistry in Smith-Lemli-Opitz syndrome.

Koo G, Conley SK, Wassif CA, Porter FD.

Am J Med Genet A. 2010 Aug;152A(8):2094-8. doi: 10.1002/ajmg.a.33540.

14.

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
15.

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
16.

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.

17.

Prenatal diagnosis of Smith-Lemli-Opitz syndrome (SLOS) by DHCR7 mutation analysis.

Waye JS, Eng B, Nowaczyk MJ.

Prenat Diagn. 2007 Jul;27(7):638-40.

PMID:
17441222
18.

Loss of apolipoprotein E exacerbates the neonatal lethality of the Smith-Lemli-Opitz syndrome mouse.

Solcà C, Pandit B, Yu H, Tint GS, Patel SB.

Mol Genet Metab. 2007 May;91(1):7-14. Epub 2007 Jan 2.

19.

DHCR7 genotypes of cousins with Smith-Lemli-Opitz syndrome.

Nowaczyk MJ, Heshka T, Eng B, Feigenbaum AJ, Waye JS.

Am J Med Genet. 2001 Apr 22;100(2):162-3.

PMID:
11298379
20.

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

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