Literature DB >> 9024554

A new face for an old syndrome.

R I Kelley.   

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Year:  1997        PMID： 9024554     DOI： 10.1002/(sici)1096-8628(19970131)68:3<251::aid-ajmg1>3.0.co;2-p

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


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  20 in total

Review 1.  Malformation syndromes caused by disorders of cholesterol synthesis.

Authors:  Forbes D Porter; Gail E Herman
Journal:  J Lipid Res       Date:  2010-10-07       Impact factor: 5.922

2.  Pulmonary vein stenosis in patients with Smith-Lemli-Opitz syndrome.

Authors:  Aaron R Prosnitz; Jane Leopold; Mira Irons; Kathy Jenkins; Amy E Roberts
Journal:  Congenit Heart Dis       Date:  2017-07-18       Impact factor: 2.007

Review 3.  Disorders of cholesterol biosynthesis.

Authors:  P T Clayton
Journal:  Arch Dis Child       Date:  1998-02       Impact factor: 3.791

4.  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

Review 5.  The Smith-Lemli-Opitz syndrome.

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

6.  R352Q mutation of the DHCR7 gene is common among Japanese Smith-Lemli-Opitz syndrome patients.

Authors:  Yoshiyuki Matsumoto; Ken-Ichi Morishima; Akira Honda; Shoji Watabe; Misa Yamamoto; Masayuki Hara; Masaki Hasui; Chikako Saito; Toshimitsu Takayanagi; Tsutomu Yamanaka; Nakamichi Saito; Hideaki Kudo; Nobuhiko Okamoto; Masato Tsukahara; Shinya Matsuura
Journal:  J Hum Genet       Date:  2005-07-26       Impact factor: 3.172

7.  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

8.  Challenging behavior in Smith-Lemli-Opitz syndrome: initial test of biobehavioral influences.

Authors:  Kurt A Freeman; Rose Eagle; Louise S Merkens; Darryn Sikora; Kersti Pettit-Kekel; Mina Nguyen-Driver; Robert D Steiner
Journal:  Cogn Behav Neurol       Date:  2013-03       Impact factor: 1.600

9.  Relation between biomarkers and clinical severity in patients with Smith-Lemli-Opitz syndrome.

Authors:  Anna V Oláh; Gabriella P Szabó; József Varga; Lídia Balogh; Györgyi Csábi; Violetta Csákváry; Wolfgang Erwa; István Balogh
Journal:  Eur J Pediatr       Date:  2013-01-15       Impact factor: 3.183

Review 10.  Treatment of Smith-Lemli-Opitz syndrome and other sterol disorders.

Authors:  Melissa D Svoboda; Jill M Christie; Yasemen Eroglu; Kurt A Freeman; Robert D Steiner
Journal:  Am J Med Genet C Semin Med Genet       Date:  2012-10-05       Impact factor: 3.908
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