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Items: 1 to 20 of 92

1.

Cholesterol precursors and facial clefting.

Porter FD.

J Clin Invest. 2006 Sep;116(9):2322-5.

2.

Malformation syndromes caused by disorders of cholesterol synthesis.

Porter FD, Herman GE.

J Lipid Res. 2011 Jan;52(1):6-34. doi: 10.1194/jlr.R009548. Epub 2010 Oct 7. Review.

3.

Human malformation syndromes due to inborn errors of cholesterol synthesis.

Porter FD.

Curr Opin Pediatr. 2003 Dec;15(6):607-13. Review.

PMID:
14631207
4.

Cholesterol metabolism deficiency.

Jira P.

Handb Clin Neurol. 2013;113:1845-50. doi: 10.1016/B978-0-444-59565-2.00054-X. Review.

PMID:
23622407
5.
6.

Sterol metabolism disorders and neurodevelopment-an update.

Kanungo S, Soares N, He M, Steiner RD.

Dev Disabil Res Rev. 2013;17(3):197-210. doi: 10.1002/ddrr.1114. Review.

PMID:
23798009
7.

Radiographic features of the skeleton in disorders of post-squalene cholesterol biosynthesis.

Rossi M, Hall CM, Bouvier R, Collardeau-Frachon S, Le Breton F, Bucourt M, Cordier MP, Vianey-Saban C, Parenti G, Andria G, Le Merrer M, Edery P, Offiah AC.

Pediatr Radiol. 2015 Jul;45(7):965-76. doi: 10.1007/s00247-014-3257-9. Epub 2015 Feb 3. Review.

PMID:
25646736
8.

Lathosterolosis: an inborn error of human and murine cholesterol synthesis due to lathosterol 5-desaturase deficiency.

Krakowiak PA, Wassif CA, Kratz L, Cozma D, Kovárová M, Harris G, Grinberg A, Yang Y, Hunter AG, Tsokos M, Kelley RI, Porter FD.

Hum Mol Genet. 2003 Jul 1;12(13):1631-41.

PMID:
12812989
9.

Genetic disorders of cholesterol biosynthesis in mice and humans.

Nwokoro NA, Wassif CA, Porter FD.

Mol Genet Metab. 2001 Sep-Oct;74(1-2):105-19. Review.

PMID:
11592808
10.

Inherited disorders of cholesterol biosynthesis.

Haas D, Kelley RI, Hoffmann GF.

Neuropediatrics. 2001 Jun;32(3):113-22. Review.

PMID:
11521206
11.

Inborn errors of cholesterol biosynthesis.

Kelley RI.

Adv Pediatr. 2000;47:1-53. Review.

PMID:
10959439
12.

Severe facial clefting in Insig-deficient mouse embryos caused by sterol accumulation and reversed by lovastatin.

Engelking LJ, Evers BM, Richardson JA, Goldstein JL, Brown MS, Liang G.

J Clin Invest. 2006 Sep;116(9):2356-65.

13.

Living with inborn errors of cholesterol biosynthesis: lessons from adult patients.

Cardoso ML, Barbosa M, Serra D, Martins E, Fortuna A, Reis-Lima M, Bandeira A, Balreira A, Marques F.

Clin Genet. 2014 Feb;85(2):184-8. doi: 10.1111/cge.12139. Epub 2013 Apr 5.

PMID:
23509885
14.

Inborn errors of sterol biosynthesis.

Kelley RI, Herman GE.

Annu Rev Genomics Hum Genet. 2001;2:299-341. Review.

PMID:
11701653
15.

Genetic defects in postsqualene cholesterol biosynthesis.

Moebius FF, Fitzky BU, Glossmann H.

Trends Endocrinol Metab. 2000 Apr;11(3):106-14. Review. Erratum in: Trends Endocrinol Metab 2000 May-Jun;11(4):150.

PMID:
10707051
16.

Disorders of post-squalene cholesterol biosynthesis leading to human dysmorphogenesis.

Andersson HC.

Cell Mol Biol (Noisy-le-grand). 2002 Mar;48(2):173-7. Review.

PMID:
11990452
17.

Abnormal cholesterol metabolism in Smith-Lemli-Opitz syndrome.

Elias ER, Irons M.

Curr Opin Pediatr. 1995 Dec;7(6):710-4. Review.

PMID:
8776024
18.

Disorders of cholesterol biosynthesis: prototypic metabolic malformation syndromes.

Herman GE.

Hum Mol Genet. 2003 Apr 1;12 Spec No 1:R75-88. Review.

PMID:
12668600
19.

A defective response to Hedgehog signaling in disorders of cholesterol biosynthesis.

Cooper MK, Wassif CA, Krakowiak PA, Taipale J, Gong R, Kelley RI, Porter FD, Beachy PA.

Nat Genet. 2003 Apr;33(4):508-13. Epub 2003 Mar 24. Erratum in: Nat Genet. 2003 May;34(1):113.

PMID:
12652302
20.

Limb, genital, CNS, and facial malformations result from gene/environment-induced cholesterol deficiency: further evidence for a link to sonic hedgehog.

Lanoue L, Dehart DB, Hinsdale ME, Maeda N, Tint GS, Sulik KK.

Am J Med Genet. 1997 Nov 28;73(1):24-31.

PMID:
9375918

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