Molecular studies in Portuguese patients with Smith–Lemli–Opitz syndrome and report of three new mutations in DHCR7-Reference-Cited by-同舟云学术

Molecular studies in Portuguese patients with Smith–Lemli–Opitz syndrome and report of three new mutations in DHCR7

Published:2005-07 Issue:3 Volume:85 Page:228-235
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Cardoso M.L.,Balreira A.,Martins E.,Nunes L.,Cabral A.,Marques M.,Lima M. Reis,Marques J.S.,Medeira A.,Cordeiro I.,Pedro S.,Mota M.C.,Dionisi-Vici C.,Santorelli F.M.,Jakobs C.,Clayton P.T.,Vilarinho L.

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference33 articles.

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2. Defective cholesterol biosynthesis associated with the Smith–Lemli–Opitz syndrome;Tint;N. Engl. J. Med.,1994

3. A newly recognized syndrome of multiple congenital anomalies;Smith;J. Pediatr.,1964

4. Smith–Lemli–Opitz syndrome: a variable clinical and biochemical phenotype;Ryan;J. Med. Genet.,1998

5. RSH/SLO (Smith–Lemli–Opitz) syndrome: historical, genetic, and developmental considerations;Opitz;Am. J. Med. Genet.,1994

Cited by 8 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. Quantitative Proteomic Analysis of Skeletal Muscle Detergent- Resistant Membranes in a Smith-Lemli-Opitz Syndrome Mouse;Cholesterol - Good, Bad and the Heart;2018-08-08

2. DHCR7: A vital enzyme switch between cholesterol and vitamin D production;Progress in Lipid Research;2016-10

3. Investigation of 7-dehydrocholesterol reductase pathway to elucidate off-target prenatal effects of pharmaceuticals: a systematic review;The Pharmacogenomics Journal;2016-07-12

4. The p.Phe174Ser mutation is associated with mild forms of Smith Lemli Opitz Syndrome;BMC Medical Genetics;2016-03-11

5. Living with inborn errors of cholesterol biosynthesis: lessons from adult patients;Clinical Genetics;2013-04-05