Literature DB >> 10896306

Smith-Lemli-Opitz syndrome: molecular-genetic analysis of ten families.

L Kozák1, H Francová, E Hrabincová, D Procházková, V Jüttnerová, V Bzdúch, P Simek.   

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Year:  2000        PMID： 10896306     DOI： 10.1023/a:1005616321794

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


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  7 in total

1.  A NEWLY RECOGNIZED SYNDROME OF MULTIPLE CONGENITAL ANOMALIES.

Authors:  D W SMITH; L LEMLI; J M OPITZ
Journal:  J Pediatr       Date:  1964-02       Impact factor: 4.406

2.  Molecular cloning and expression of the human delta7-sterol reductase.

Authors:  F F Moebius; B U Fitzky; J N Lee; Y K Paik; H Glossmann
Journal:  Proc Natl Acad Sci U S A       Date:  1998-02-17       Impact factor: 11.205

3.  Mutation and haplotype analysis of phenylalanine hydroxylase alleles in classical PKU patients from the Czech Republic: identification of four novel mutations.

Authors:  L Kozák; M Blazková; V Kuhrová; A Pijácková; S Růzicková; S St'astná
Journal:  J Med Genet       Date:  1997-11       Impact factor: 6.318

4.  Smith-Lemli-Opitz syndrome is caused by mutations in the 7-dehydrocholesterol reductase gene.

Authors:  H R Waterham; F A Wijburg; R C Hennekam; P Vreken; B T Poll-The; L Dorland; M Duran; P E Jira; J A Smeitink; R A Wevers; R J Wanders
Journal:  Am J Hum Genet       Date:  1998-08       Impact factor: 11.025

5.  Defective cholesterol biosynthesis associated with the Smith-Lemli-Opitz syndrome.

Authors:  G S Tint; M Irons; E R Elias; A K Batta; R Frieden; T S Chen; G Salen
Journal:  N Engl J Med       Date:  1994-01-13       Impact factor: 91.245

6.  Mutations in the Delta7-sterol reductase gene in patients with the Smith-Lemli-Opitz syndrome.

Authors:  B U Fitzky; M Witsch-Baumgartner; M Erdel; J N Lee; Y K Paik; H Glossmann; G Utermann; F F Moebius
Journal:  Proc Natl Acad Sci U S A       Date:  1998-07-07       Impact factor: 11.205

7.  Mutations in the human sterol delta7-reductase gene at 11q12-13 cause Smith-Lemli-Opitz syndrome.

Authors:  C A Wassif; C Maslen; S Kachilele-Linjewile; D Lin; L M Linck; W E Connor; R D Steiner; F D Porter
Journal:  Am J Hum Genet       Date:  1998-07       Impact factor: 11.025
  7 in total
  4 in total

1.  Smith-Lemli-Opitz syndrome with extremely low plasma cholesterol.

Authors:  V Bzdúch; D Behúlová; L Kozák; J Skodová; E Véghová; A Dello Russo; G Corso; F Bauer
Journal:  J Inherit Metab Dis       Date:  2000-09       Impact factor: 4.982

2.  Mutational spectrum of smith-lemli-opitz syndrome patients in hungary.

Authors:  I Balogh; K Koczok; G P Szabó; O Török; K Hadzsiev; G Csábi; L Balogh; E Dzsudzsák; E Ajzner; L Szabó; V Csákváry; A V Oláh
Journal:  Mol Syndromol       Date:  2012-11-09

3.  Molecular screening of Smith-Lemli-Opitz syndrome in pregnant women from the Czech Republic.

Authors:  I Blahakova; E Makaturova; L Kotrbova; M Soukupova; J Lastuvkova; L Kozak
Journal:  J Inherit Metab Dis       Date:  2007-11-12       Impact factor: 4.982

Review 4.  Investigation of 7-dehydrocholesterol reductase pathway to elucidate off-target prenatal effects of pharmaceuticals: a systematic review.

Authors:  M R Boland; N P Tatonetti
Journal:  Pharmacogenomics J       Date:  2016-07-12       Impact factor: 3.550
  4 in total

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