Similar articles for PMID: 15521979

Year	Number of Results
1911	1
1987	2
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2000	16
2001	15
2002	8
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2012	7
2013	6
2014	6
2015	4
2016	3
2017	6
2018	3
2019	2
2020	7
2021	6
2023	1
2024	0

1

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. Ciara E, et al. Clin Genet. 2004 Dec;66(6):517-24. doi: 10.1111/j.1399-0004.2004.00350.x. Clin Genet. 2004. PMID: 15521979

2

Mutations in the human DHCR7 gene.

Witsch-Baumgartner M, Löffler J, Utermann G. Witsch-Baumgartner M, et al. Hum Mutat. 2001 Mar;17(3):172-82. doi: 10.1002/humu.2. Hum Mutat. 2001. PMID: 11241839

3

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. Witsch-Baumgartner M, et al. J Med Genet. 2004 Aug;41(8):577-84. doi: 10.1136/jmg.2004.018085. J Med Genet. 2004. PMID: 15286151 Free PMC article.

4

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. Kolejáková K, et al. Gen Physiol Biophys. 2009 Mar;28(1):8-15. Gen Physiol Biophys. 2009. PMID: 19390132

5

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. Witsch-Baumgartner M, et al. Hum Mutat. 2005 Apr;25(4):412. doi: 10.1002/humu.9328. Hum Mutat. 2005. PMID: 15776424

6

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. Ciara E, et al. Eur J Med Genet. 2006 Nov-Dec;49(6):499-504. doi: 10.1016/j.ejmg.2006.01.006. Epub 2006 Feb 9. Eur J Med Genet. 2006. PMID: 16497572

7

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

8

Mild Smith-Lemli-Opitz syndrome: further delineation of 5 Polish cases and review of the literature.

Jezela-Stanek A, Ciara E, Malunowicz EM, Korniszewski L, Piekutowska-Abramczuk D, Popowska E, Krajewska-Walasek M. Jezela-Stanek A, et al. Eur J Med Genet. 2008 Mar-Apr;51(2):124-40. doi: 10.1016/j.ejmg.2007.11.004. Epub 2007 Dec 8. Eur J Med Genet. 2008. PMID: 18249054

9

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. Witsch-Baumgartner M, et al. J Med Genet. 2008 Apr;45(4):200-9. doi: 10.1136/jmg.2007.053520. Epub 2007 Oct 26. J Med Genet. 2008. PMID: 17965227

10

Molecular studies in Portuguese patients with Smith-Lemli-Opitz syndrome and report of three new mutations in DHCR7.

Cardoso ML, Balreira A, Martins E, Nunes L, Cabral A, Marques M, Lima MR, Marques JS, Medeira A, Cordeiro I, Pedro S, Mota MC, Dionisi-Vici C, Santorelli FM, Jakobs C, Clayton PT, Vilarinho L. Cardoso ML, et al. Mol Genet Metab. 2005 Jul;85(3):228-35. doi: 10.1016/j.ymgme.2005.02.009. Epub 2005 Apr 14. Mol Genet Metab. 2005. PMID: 15979035

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