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Volumn 33, Issue SUPPL. 3, 2010, Pages

Differences between predicted and established diagnoses of Smith-Lemli-Opitz syndrome in the Polish population: Underdiagnosis or loss of affected fetuses?

(32)  Jezela Stanek, Aleksandra a   Ciara, Elzbieta a   Małunowicz, Ewa a   Chrzanowska, Krystyna a   Latos Bieleńska, Anna b   Krajewska Walasek, Małgorzata a   Gajdulewicz, Maria a   Spodar, Krystyna a   Materna Kiryluk, Anna b   Wolnik Brzozowska, Danuta b   Pyrkosz, Antoni c   Obersztyn, Ewa d   Wierzba, Jolanta e   Śmigiel, Robert f   Kostuch, Marzena f   Dudarewicz, Lech g   Pasińska, Magdalena h   Socha, Piotr a   Dobrzańska, Anna a   Pleskaczyńska, Agata a   more..


Author keywords

[No Author keywords available]

Indexed keywords

7 DEHYDROCHOLESTEROL; 7-DEHYDROCHOLESTEROL; BIOLOGICAL MARKER;

EID: 84897956041     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-010-9132-4     Document Type: Article
Times cited : (17)

References (17)
  • 1
    • 33845959186 scopus 로고    scopus 로고
    • SLOS carrier frequency in Poland as determined by screening for Trp151X and Val326Leu DHCR7 mutations
    • Ciara E, Popowska E, Piekutowska-Abramczuk D et al. (2006) SLOS carrier frequency in Poland as determined by screening for Trp151X and Val326Leu DHCR7 mutations. Eur J Med Genet 49 (6):499-504
    • (2006) Eur J Med Genet , vol.49 , Issue.6 , pp. 499-504
    • Ciara, E.1    Popowska, E.2    Piekutowska-Abramczuk, D.3
  • 2
    • 33749459449 scopus 로고    scopus 로고
    • Identifying smith-lemli-opitz syndrome in conjunction with prenatal screening for down syndrome
    • Craig WY, Haddow JE, Palomaki GE et al. (2006) Identifying Smith-Lemli-Opitz syndrome in conjunction with prenatal screening for Down syndrome. Prenat Diagn 26(9):842-849
    • (2006) Prenat Diagn , vol.26 , Issue.9 , pp. 842-849
    • Craig, W.Y.1    Haddow, J.E.2    Palomaki, G.E.3
  • 3
    • 0031050244 scopus 로고    scopus 로고
    • Clinical effects of cholesterol supplementation in six patients with the smith-lemli-opitz syndrome
    • Elias ER, Irons MB, Hurley AD, Tint GS, Salen G (1997) Clinical effects of cholesterol supplementation in six patients with the Smith-Lemli-Opitz syndrome. Am J Med Genet 68:305-310
    • (1997) Am J Med Genet , vol.68 , pp. 305-310
    • Elias, E.R.1    Irons, M.B.2    Hurley, A.D.3    Tint, G.S.4    Salen, G.5
  • 4
    • 0032493196 scopus 로고    scopus 로고
    • Mutation in the d7-sterol reductase gene in patients with the smith-lemli-opitz syndrome
    • Fitzky BU, Witsch-Baumgartner M, Erdel M et al. (1998) Mutation in the D7-sterol reductase gene in patients with the Smith-Lemli-Opitz syndrome. Proc Natl Acad Sci USA 95:8181-8186
    • (1998) Proc Natl Acad Sci USA , vol.95 , pp. 8181-8186
    • Fitzky, B.U.1    Witsch-Baumgartner, M.2    Erdel, M.3
  • 5
    • 0031051150 scopus 로고    scopus 로고
    • Treatment of smith-lemli-opitz syndrome: Results of a multicenter trial
    • Irons MB, Elias ER, Abuelo Det al. (1997) Treatment of Smith-Lemli-Opitz syndrome: results of a multicenter trial. Am J Med Genet 68:311-314
    • (1997) Am J Med Genet , vol.68 , pp. 311-314
    • Irons, M.B.1    Elias, E.R.2    Abuelo, D.3
  • 7
    • 33644853963 scopus 로고    scopus 로고
    • Maternal urinary steroid profiles in prenatal diagnosis of smith-lemli-opitz syndrome: First patient series comparing biochemical and molecular studies
    • Jezela-Stanek A, Małunowicz EM, Ciara E, Popowska E, Goryluk-Kozakiewicz B, Spodar K et al. (2006) Maternal urinary steroid profiles in prenatal diagnosis of Smith-Lemli-Opitz syndrome: first patient series comparing biochemical and molecular studies. Clin Genet 69(1):77-85
    • (2006) Clin Genet , vol.69 , Issue.1 , pp. 77-85
    • Jezela-Stanek, A.1    Małunowicz, E.M.2    Ciara, E.3    Popowska, E.4    Goryluk-Kozakiewicz, B.5    Spodar, K.6
  • 8
  • 10
    • 33749473353 scopus 로고    scopus 로고
    • DHCR7 mutation carrier rates and prevalence of the RSH/Smith-Lemli-Opitz syndrome: Where are the patients?
    • Review
    • Nowaczyk MJ, Waye JS, Douketis JD (2006) DHCR7 mutation carrier rates and prevalence of the RSH/Smith-Lemli-Opitz syndrome:where are the patients? Am J Med Genet A 140(19):2057-2062, Review
    • (2006) Am J Med Genet A , vol.140 , Issue.19 , pp. 2057-2062
    • Nowaczyk, M.J.1    Waye, J.S.2    Douketis, J.D.3
  • 11
    • 42649100290 scopus 로고    scopus 로고
    • Smith-Lemli-Opitz syndrome: Pathogenesis, diagnosis and management
    • Porter FD (2008) Smith-Lemli-Opitz syndrome: pathogenesis, diagnosis and management. Eur J Hum Genet 16(5):535-541
    • (2008) Eur J Hum Genet , vol.16 , Issue.5 , pp. 535-541
    • Porter, F.D.1
  • 12
    • 0029022844 scopus 로고
    • Diagnosis of Smith-Lemli-Opitz syndrome by gas chromatography/mass spectrometry of 7-dehydrocholesterol in plasma, amniotic fluid and cultured skin fibroblasts
    • Kelley RI (1995) Diagnosis of Smith-Lemli-Opitz syndrome by gas chromatography/mass spectrometry of 7-dehydrocholesterol in plasma, amniotic fluid and cultured skin fibroblasts. Clin Chim Acta 236(1):45-58
    • (1995) Clin Chim Acta , vol.236 , Issue.1 , pp. 45-58
    • Kelley, R.I.1
  • 15
    • 0032231706 scopus 로고    scopus 로고
    • Smith-Lemli-Opitz syndrome is caused by mutations in the 7-dehydrocholesterol reductase gene
    • Waterham HR, Wijburg FA, Hennekam RCM et al. (1998) Smith-Lemli-Opitz syndrome is caused by mutations in the 7-dehydrocholesterol reductase gene. Am J Hum Genet 63:329-338
    • (1998) Am J Hum Genet , vol.63 , pp. 329-338
    • Waterham, H.R.1    Wijburg, F.A.2    Hennekam, R.C.M.3
  • 16
    • 0035146784 scopus 로고    scopus 로고
    • 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 et al. (2001) Frequency gradients of DHCR7 mutations in patients with Smith-Lemli-Opitz syndrome in Europe: evidence for different origins of common mutations. Eur J Hum Genet 9(1):45-50
    • (2001) Eur J Hum Genet , vol.9 , Issue.1 , pp. 45-50
    • Witsch-Baumgartner, M.1    Ciara, E.2    Löffler, J.3
  • 17
    • 42049113582 scopus 로고    scopus 로고
    • Age and origin of major smith-lemli-opitz syndrome (slos) mutations in european populations
    • Witsch-Baumgartner M, Schwentner I, Gruber M et al. (2008) Age and origin of major Smith-Lemli-Opitz syndrome (SLOS) mutations in European populations. J Med Genet 45(4):200-209
    • (2008) J Med Genet , vol.45 , Issue.4 , pp. 200-209
    • Witsch-Baumgartner, M.1    Schwentner, I.2    Gruber, M.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.