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Year | Number of Results |
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1999 | 1 |
2000 | 2 |
2004 | 1 |
2005 | 1 |
2016 | 1 |
2024 | 0 |
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Biochemical variants of Smith-Lemli-Opitz syndrome.
Am J Med Genet. 1999 Aug 27;85(5):517-23. doi: 10.1002/(sici)1096-8628(19990827)85:5<517::aid-ajmg18>3.0.co;2-1.
Am J Med Genet. 1999.
PMID: 10405455
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.
Am J Hum Genet. 2000 Feb;66(2):402-12. doi: 10.1086/302760.
Am J Hum Genet. 2000.
PMID: 10677299
Free PMC article.
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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.
Krakowiak PA, et al.
Am J Med Genet. 2000 Sep 18;94(3):214-27.
Am J Med Genet. 2000.
PMID: 10995508
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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.
Ginat S, et al.
Mol Genet Metab. 2004 Sep-Oct;83(1-2):175-83. doi: 10.1016/j.ymgme.2004.07.002.
Mol Genet Metab. 2004.
PMID: 15464432
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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.
Waye JS, et al.
Hum Mutat. 2005 Jul;26(1):59. doi: 10.1002/humu.9346.
Hum Mutat. 2005.
PMID: 15954111
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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.
Tucci A, et al.
BMC Med Genet. 2016 Mar 11;17:22. doi: 10.1186/s12881-016-0287-1.
BMC Med Genet. 2016.
PMID: 26969503
Free PMC article.
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