Molecular screening of Smith–Lemli–Opitz syndrome in pregnant women from the Czech Republic-Reference-Cited by-同舟云学术

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Molecular screening of Smith–Lemli–Opitz syndrome in pregnant women from the Czech Republic

Published:2007-11 Issue:6 Volume:30 Page:964-969
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J Inherit Metab Dis

Author:

Blahakova I.,Makaturova E.,Kotrbova L.,Soukupova M.,Lastuvkova J.,Kozak L.

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://www.springerlink.com/index/pdf/10.1007/s10545-007-0710-z

Reference34 articles.

1. Bradley LA, Canick JA, Palomaki GE, Haddow JE (1997) Undetectable maternal serum unconjugated estriol levels in the second trimester: risk of perinatal complications associated with placental sulfatase deficiency. Am J Obstet Gynecol 176(3): 531-35.

2. Bradley LA, Palomaki GE, Knight GJ, et al (1999) Levels of unconjugated estriol and other maternal serum markers in pregnancies with Smith–Lemli–Opitz (RSH) syndrome fetuses. Am J Med Genet 82(4): 355-58.

3. Bzduch V, Behulova D, Skoduva J (2000) Incidence of Smith–Lemli–Opitz syndrome in Slovakia. Am J Med Genet 90: 260.

4. Cooper MK, Wassif CA, Krakowiak PA, et al (2003) A defective response to Hedgehog signaling in disorders of cholesterol biosynthesis. Nat Genet 33(4): 508-13.

5. Correa-Cerro LS and Porter FD (2005) 3β-hydroxysterol Δ7-reductase and the Smith–Lemli–Opitz syndrome. Mol Genet Metab 84: 112-26.

Cited by 1 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Mutational spectrum of Smith-Lemli-Opitz syndrome;American Journal of Medical Genetics Part C: Seminars in Medical Genetics;2012-10-05

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