Literature DB >> 23321614

Clinical utility gene card for: Smith-Lemli-Opitz Syndrome [SLOS].

Martina Witsch-Baumgartner1, Hilary Sawyer, Dorothea Haas.   

Abstract

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Year:  2013        PMID： 23321614      PMCID： PMC3722671          DOI： 10.1038/ejhg.2012.255

Source DB:  PubMed          Journal:  Eur J Hum Genet        ISSN： 1018-4813            Impact factor:   4.246


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  18 in total

1.  Mutations in the human DHCR7 gene.

Authors:  M Witsch-Baumgartner; J Löffler; G Utermann
Journal:  Hum Mutat       Date:  2001-03       Impact factor: 4.878

Review 2.  The Smith-Lemli-Opitz syndrome.

Authors:  R I Kelley; R C Hennekam
Journal:  J Med Genet       Date:  2000-05       Impact factor: 6.318

Review 3.  The Smith-Lemli-Opitz syndrome: a novel metabolic way of understanding developmental biology, embryogenesis, and dysmorphology.

Authors:  M J Nowaczyk; J S Waye
Journal:  Clin Genet       Date:  2001-06       Impact factor: 4.438

4.  Mutational spectrum in the Delta7-sterol reductase gene and genotype-phenotype correlation in 84 patients with Smith-Lemli-Opitz syndrome.

Authors:  M Witsch-Baumgartner; B U Fitzky; M Ogorelkova; H G Kraft; F F Moebius; H Glossmann; U Seedorf; G Gillessen-Kaesbach; G F Hoffmann; P Clayton; R I Kelley; G Utermann
Journal:  Am J Hum Genet       Date:  2000-02       Impact factor: 11.025

5.  Frequency gradients of DHCR7 mutations in patients with Smith-Lemli-Opitz syndrome in Europe: evidence for different origins of common mutations.

Authors:  M Witsch-Baumgartner; E Ciara; J Löffler; H J Menzel; U Seedorf; J Burn; G Gillessen-Kaesbach; G F Hoffmann; B U Fitzky; H Mundy; P Clayton; R I Kelley; M Krajewska-Walasek; G Utermann
Journal:  Eur J Hum Genet       Date:  2001-01       Impact factor: 4.246

6.  Effects of cholesterol and simvastatin treatment in patients with Smith-Lemli-Opitz syndrome (SLOS).

Authors:  D Haas; S F Garbade; C Vohwinkel; N Muschol; F K Trefz; J M Penzien; J Zschocke; G F Hoffmann; P Burgard
Journal:  J Inherit Metab Dis       Date:  2007-05-11       Impact factor: 4.982

7.  Cholesterol supplementation objectively reduces photosensitivity in the Smith-Lemli-Opitz syndrome.

Authors:  R M Azurdia; A V Anstey; L E Rhodes
Journal:  Br J Dermatol       Date:  2001-01       Impact factor: 9.302

8.  Identification of three patients with a very mild form of Smith-Lemli-Opitz syndrome.

Authors:  Fernanda A A Langius; Hans R Waterham; Gerrit Jan Romeijn; Wendy Oostheim; Martina M J de Barse; Lambertus Dorland; Marinus Duran; Frits A Beemer; Ronald J A Wanders; Bwee Tien Poll-The
Journal:  Am J Med Genet A       Date:  2003-09-15       Impact factor: 2.802

9.  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

10.  Maternal apo E genotype is a modifier of the Smith-Lemli-Opitz syndrome.

Authors:  M Witsch-Baumgartner; M Gruber; H G Kraft; M Rossi; P Clayton; M Giros; D Haas; R I Kelley; M Krajewska-Walasek; G Utermann
Journal:  J Med Genet       Date:  2004-08       Impact factor: 6.318
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  1 in total

Review 1.  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
  1 in total

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