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Results: 17

1.

Autosomal recessive hypercholesterolemia.

Soutar AK, Naoumova RP.

Semin Vasc Med. 2004 Aug;4(3):241-8. Review.

PMID:
15630633
[PubMed - indexed for MEDLINE]
2.

Genetics, clinical phenotype, and molecular cell biology of autosomal recessive hypercholesterolemia.

Soutar AK, Naoumova RP, Traub LM.

Arterioscler Thromb Vasc Biol. 2003 Nov 1;23(11):1963-70. Epub 2003 Sep 4. Review.

PMID:
12958046
[PubMed - indexed for MEDLINE]
Free Article
3.

The molecular genetic basis and diagnosis of familial hypercholesterolemia in Denmark.

Jensen HK.

Dan Med Bull. 2002 Nov;49(4):318-45. Review.

PMID:
12553167
[PubMed - indexed for MEDLINE]
4.

Rare genetic causes of autosomal dominant or recessive hypercholesterolaemia.

Soutar AK.

IUBMB Life. 2010 Feb;62(2):125-31. doi: 10.1002/iub.299. Review.

PMID:
20073037
[PubMed - indexed for MEDLINE]
5.

LDL-receptor mutations in Europe.

Dedoussis GV, Schmidt H, Genschel J.

Hum Mutat. 2004 Dec;24(6):443-59. Review. Erratum in: Hum Mutat. 2005 Sep;26(3):277-8.

PMID:
15523646
[PubMed - indexed for MEDLINE]
6.

Molecular mechanisms of autosomal recessive hypercholesterolemia.

Cohen JC, Kimmel M, Polanski A, Hobbs HH.

Curr Opin Lipidol. 2003 Apr;14(2):121-7. Review.

PMID:
12642779
[PubMed - indexed for MEDLINE]
7.

Mechanisms of disease: genetic causes of familial hypercholesterolemia.

Soutar AK, Naoumova RP.

Nat Clin Pract Cardiovasc Med. 2007 Apr;4(4):214-25. Review.

PMID:
17380167
[PubMed - indexed for MEDLINE]
8.

Homozygous familial hypercholesterolemia: current perspectives on diagnosis and treatment.

Raal FJ, Santos RD.

Atherosclerosis. 2012 Aug;223(2):262-8. doi: 10.1016/j.atherosclerosis.2012.02.019. Epub 2012 Feb 16. Review.

PMID:
22398274
[PubMed - indexed for MEDLINE]
9.

Molecular genetics of the LDL receptor gene in familial hypercholesterolemia.

Hobbs HH, Brown MS, Goldstein JL.

Hum Mutat. 1992;1(6):445-66. Review.

PMID:
1301956
[PubMed - indexed for MEDLINE]
10.

[Molecular genetic causes of familial hypercholesterolemia].

Leren TP.

Tidsskr Nor Laegeforen. 1993 Oct 30;113(26):3251-4. Review. Norwegian.

PMID:
8236220
[PubMed - indexed for MEDLINE]
11.

Autosomal recessive hypercholesterolemia in a Sicilian kindred harboring the 432insA mutation of the ARH gene.

Barbagallo CM, Emmanuele G, Cefal├╣ AB, Fiore B, Noto D, Mazzarino MC, Pace A, Brogna A, Rizzo M, Corsini A, Notarbartolo A, Travali S, Averna MR.

Atherosclerosis. 2003 Feb;166(2):395-400. Review.

PMID:
12535754
[PubMed - indexed for MEDLINE]
12.

The low density lipoprotein receptor.

Schneider WJ.

Biochim Biophys Acta. 1989 May 9;988(2):303-17. Review.

PMID:
2655710
[PubMed - indexed for MEDLINE]
13.

DNA testing for familial hypercholesterolemia: improving disease recognition and patient care.

Vergopoulos A, Knoblauch H, Schuster H.

Am J Pharmacogenomics. 2002;2(4):253-62. Review.

PMID:
12421096
[PubMed - indexed for MEDLINE]
14.

[Molecular basis of familial hypercholesterolemia-like phenotype heterogeneity].

Wang LY, Lin J, Liu S, Chen BS.

Yi Chuan Xue Bao. 2005 Jul;32(7):770-7. Review. Chinese.

PMID:
16078748
[PubMed - indexed for MEDLINE]
15.

[LDL receptor gene analysis and phenotypic variation of familial hypercholesterolemia].

Tada N.

Nihon Rinsho. 1994 Dec;52(12):3228-35. Review. Japanese.

PMID:
7853715
[PubMed - indexed for MEDLINE]
16.

Mipomersen and other therapies for the treatment of severe familial hypercholesterolemia.

Bell DA, Hooper AJ, Watts GF, Burnett JR.

Vasc Health Risk Manag. 2012;8:651-9. doi: 10.2147/VHRM.S28581. Epub 2012 Nov 28. Review.

PMID:
23226021
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

New treatments on the horizon for familial hypercholesterolemia.

Allian-Sauer MU, Falko JM.

Expert Rev Cardiovasc Ther. 2012 Oct;10(10):1227-37. doi: 10.1586/erc.12.112. Review.

PMID:
23190063
[PubMed - indexed for MEDLINE]

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