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Results: 1 to 20 of 208

1.

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.

PMID:
11175299
[PubMed - indexed for MEDLINE]
Free Article
2.

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
[PubMed - indexed for MEDLINE]
3.

Identification of 14 novel mutations in DHCR7 causing the Smith-Lemli-Opitz syndrome and delineation of the DHCR7 mutational spectra in Spain and Italy.

Witsch-Baumgartner M, Clayton P, Clusellas N, Haas D, Kelley RI, Krajewska-Walasek M, Lechner S, Rossi M, Zschocke J, Utermann G.

Hum Mutat. 2005 Apr;25(4):412.

PMID:
15776424
[PubMed - indexed for MEDLINE]
4.

Mutations in the human DHCR7 gene.

Witsch-Baumgartner M, Löffler J, Utermann G.

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

PMID:
11241839
[PubMed - indexed for MEDLINE]
5.

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
6.

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
7.

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
[PubMed - indexed for MEDLINE]
8.

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
[PubMed - indexed for MEDLINE]
9.

Frequency and ethnic distribution of the common DHCR7 mutation in Smith-Lemli-Opitz syndrome.

Nowaczyk MJ, Nakamura LM, Eng B, Porter FD, Waye JS.

Am J Med Genet. 2001 Sep 1;102(4):383-6.

PMID:
11503168
[PubMed - indexed for MEDLINE]
10.

Spectrum of DHCR7 mutations in Slovak patients with Smith-Lemli-Opitz syndrome and detection of common mutations by PCR-based assays.

Kolejáková K, Petrovic R, Futas J, Turcáni P, Durovcíková D, Chandoga J.

Gen Physiol Biophys. 2009 Mar;28(1):8-15.

PMID:
19390132
[PubMed - indexed for MEDLINE]
11.

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
[PubMed - indexed for MEDLINE]
12.

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]
13.

Carrier frequency of the common mutation IVS8-1G>C in DHCR7 and estimate of the expected incidence of Smith-Lemli-Opitz syndrome.

Battaile KP, Battaile BC, Merkens LS, Maslen CL, Steiner RD.

Mol Genet Metab. 2001 Jan;72(1):67-71.

PMID:
11161831
[PubMed - indexed for MEDLINE]
14.

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]
15.

SLOS carrier frequency in Poland as determined by screening for Trp151X and Val326Leu DHCR7 mutations.

Ciara E, Popowska E, Piekutowska-Abramczuk D, Jurkiewicz D, Borucka-Mankiewicz M, Kowalski P, Goryluk-Kozakiewicz B, Nowaczyk MJ, Krajewska-Walasek M.

Eur J Med Genet. 2006 Nov-Dec;49(6):499-504. Epub 2006 Feb 9.

PMID:
16497572
[PubMed - indexed for MEDLINE]
16.

Novel mutations in the 7-dehydrocholesterol reductase gene of 13 patients with Smith--Lemli--Opitz syndrome.

Jira PE, Wanders RJ, Smeitink JA, De Jong J, Wevers RA, Oostheim W, Tuerlings JH, Hennekam RC, Sengers RC, Waterham HR.

Ann Hum Genet. 2001 May;65(Pt 3):229-36.

PMID:
11427181
[PubMed - indexed for MEDLINE]
17.

Mutation analysis and description of sixteen RSH/Smith-Lemli-Opitz syndrome patients: polymerase chain reaction-based assays to simplify genotyping.

Krakowiak PA, Nwokoro NA, Wassif CA, Battaile KP, Nowaczyk MJ, Connor WE, Maslen C, Steiner RD, Porter FD.

Am J Med Genet. 2000 Sep 18;94(3):214-27.

PMID:
10995508
[PubMed - indexed for MEDLINE]
18.

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
[PubMed - indexed for MEDLINE]
19.

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
20.

R352Q mutation of the DHCR7 gene is common among Japanese Smith-Lemli-Opitz syndrome patients.

Matsumoto Y, Morishima K, Honda A, Watabe S, Yamamoto M, Hara M, Hasui M, Saito C, Takayanagi T, Yamanaka T, Saito N, Kudo H, Okamoto N, Tsukahara M, Matsuura S.

J Hum Genet. 2005;50(7):353-6. Epub 2005 Jul 26.

PMID:
16044199
[PubMed - indexed for MEDLINE]

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