Literature DB >> 3322013

Smith-Lemli-Opitz (RSH) syndrome bibliography.

J M Opitz1, V B Penchaszadeh, M C Holt, L M Spano.   

Abstract

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Year:  1987        PMID： 3322013     DOI： 10.1002/ajmg.1320280324

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


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  7 in total

Review 1.  Innovative Target Therapies Are Able to Block the Inflammation Associated with Dysfunction of the Cholesterol Biosynthesis Pathway.

Authors:  Annalisa Marcuzzi; Elisa Piscianz; Claudia Loganes; Liza Vecchi Brumatti; Alessandra Knowles; Sabrine Bilel; Alberto Tommasini; Roberta Bortul; Marina Zweyer
Journal:  Int J Mol Sci       Date:  2015-12-30       Impact factor: 5.923

2.  Reproducing abnormal cholesterol biosynthesis as seen in the Smith-Lemli-Opitz syndrome by inhibiting the conversion of 7-dehydrocholesterol to cholesterol in rats.

Authors:  G Xu; G Salen; S Shefer; G C Ness; T S Chen; Z Zhao; G S Tint
Journal:  J Clin Invest       Date:  1995-01       Impact factor: 14.808

3.  Defective monocyte oxidative metabolism in a child with Smith-Lemli-Opitz syndrome.

Authors:  G Z Ostergaard; H Nielsen; B Friis
Journal:  Eur J Pediatr       Date:  1992-04       Impact factor: 3.183

4.  The many faces of oral-facial-digital syndrome.

Authors:  E Sukarova-Angelovska; N Angelkova; S Palcevska-Kocevska; M Kocova
Journal:  Balkan J Med Genet       Date:  2012-06       Impact factor: 0.519

5.  Smith-Lemli-Opitz syndrome carrier frequency and estimates of in utero mortality rates.

Authors:  Gabriel A Lazarin; Imran S Haque; Eric A Evans; James D Goldberg
Journal:  Prenat Diagn       Date:  2017-03-09       Impact factor: 3.050

6.  Vici syndrome in Israel: Clinical and molecular insights.

Authors:  Odelia Chorin; Yoel Hirsch; Rachel Rock; Liat Salzer Sheelo; Yael Goldberg; Hanna Mandel; Tova Hershkovitz; Nicole Fleischer; Lior Greenbaum; Uriel Katz; Ortal Barel; Nasrin Hamed; Bruria Ben-Zeev; Shoshana Greenberger; Nadra Nasser Samra; Michal Stern Zimmer; Annick Raas-Rothschild; Ben Pode-Shakked
Journal:  Front Genet       Date:  2022-09-20       Impact factor: 4.772

7.  Delivery of the 7-dehydrocholesterol reductase gene to the central nervous system using adeno-associated virus vector in a mouse model of Smith-Lemli-Opitz Syndrome.

Authors:  Saloni Pasta; Omoye Akhile; Dorothy Tabron; Flora Ting; Cedric Shackleton; Gordon Watson
Journal:  Mol Genet Metab Rep       Date:  2015-09
  7 in total

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