Soutar AK - Search Results

1

Identification and biochemical analysis of a novel APOB mutation that causes autosomal dominant hypercholesterolemia.

Thomas ER, Atanur SS, Norsworthy PJ, Encheva V, Snijders AP, Game L, Vandrovcova J, Siddiq A, Seed M, Soutar AK, Aitman TJ. Thomas ER, et al. Among authors: soutar ak. Mol Genet Genomic Med. 2013 Sep;1(3):155-61. doi: 10.1002/mgg3.17. Epub 2013 Jun 13. Mol Genet Genomic Med. 2013. PMID: 24498611 Free PMC article.

2

The use of next-generation sequencing in clinical diagnosis of familial hypercholesterolemia.

Vandrovcova J, Thomas ER, Atanur SS, Norsworthy PJ, Neuwirth C, Tan Y, Kasperaviciute D, Biggs J, Game L, Mueller M, Soutar AK, Aitman TJ. Vandrovcova J, et al. Among authors: soutar ak. Genet Med. 2013 Dec;15(12):948-57. doi: 10.1038/gim.2013.55. Epub 2013 May 16. Genet Med. 2013. PMID: 23680767 Free article.

3

Targeted genetic testing for familial hypercholesterolaemia using next generation sequencing: a population-based study.

Norsworthy PJ, Vandrovcova J, Thomas ER, Campbell A, Kerr SM, Biggs J, Game L, Soutar AK, Smith BH, Dominiczak AF, Porteous DJ, Morris AD, Scotland G, Aitman TJ. Norsworthy PJ, et al. Among authors: soutar ak. BMC Med Genet. 2014 Jun 23;15:70. doi: 10.1186/1471-2350-15-70. BMC Med Genet. 2014. PMID: 24956927 Free PMC article.

4

Improved cardiovascular outcomes following temporal advances in lipid-lowering therapy in a genetically-characterised cohort of familial hypercholesterolaemia homozygotes.

Thompson GR, Seed M, Naoumova RP, Neuwirth C, Walji S, Aitman TJ, Scott J, Myant NB, Soutar AK. Thompson GR, et al. Among authors: soutar ak. Atherosclerosis. 2015 Nov;243(1):328-33. doi: 10.1016/j.atherosclerosis.2015.09.029. Epub 2015 Sep 28. Atherosclerosis. 2015. PMID: 26433113 Free article.

5

Identification of the 664 proline to leucine mutation in the low density lipoprotein receptor in four unrelated patients with familial hypercholesterolaemia in the UK.

King-Underwood L, Gudnason V, Humphries S, Seed M, Patel D, Knight B, Soutar A. King-Underwood L, et al. Clin Genet. 1991 Jul;40(1):17-28. doi: 10.1111/j.1399-0004.1991.tb03064.x. Clin Genet. 1991. PMID: 1884514

6

Relationship between apolipoprotein(a) phenotype, lipoprotein(a) concentration in plasma, and low density lipoprotein receptor function in a large kindred with familial hypercholesterolemia due to the pro664----leu mutation in the LDL receptor gene.

Soutar AK, McCarthy SN, Seed M, Knight BL. Soutar AK, et al. J Clin Invest. 1991 Aug;88(2):483-92. doi: 10.1172/JCI115329. J Clin Invest. 1991. PMID: 1830890 Free PMC article.

7

Identification of recurrent and novel mutations in exon 4 of the LDL receptor gene in patients with familial hypercholesterolemia in the United Kingdom.

Gudnason V, King-Underwood L, Seed M, Sun XM, Soutar AK, Humphries SE. Gudnason V, et al. Among authors: soutar ak. Arterioscler Thromb. 1993 Jan;13(1):56-63. doi: 10.1161/01.atv.13.1.56. Arterioscler Thromb. 1993. PMID: 8093663

8

Characterization of deletions in the LDL receptor gene in patients with familial hypercholesterolemia in the United Kingdom.

Sun XM, Webb JC, Gudnason V, Humphries S, Seed M, Thompson GR, Knight BL, Soutar AK. Sun XM, et al. Among authors: soutar ak. Arterioscler Thromb. 1992 Jul;12(7):762-70. doi: 10.1161/01.atv.12.7.762. Arterioscler Thromb. 1992. PMID: 1319734

9

Autosomal recessive hypercholesterolemia.

Soutar AK, Naoumova RP. Soutar AK, et al. Semin Vasc Med. 2004 Aug;4(3):241-8. doi: 10.1055/s-2004-861491. Semin Vasc Med. 2004. PMID: 15630633 Review.

10

Catabolism of lipoprotein(a) in familial hypercholesterolaemic subjects.

Knight BL, Perombelon YF, Soutar AK, Wade DP, Seed M. Knight BL, et al. Among authors: soutar ak. Atherosclerosis. 1991 Apr;87(2-3):227-37. doi: 10.1016/0021-9150(91)90025-x. Atherosclerosis. 1991. PMID: 1830206

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