Soutar AK - Search Results

1

Novel functional APOB mutations outside LDL-binding region causing familial hypercholesterolaemia.

Alves AC, Etxebarria A, Soutar AK, Martin C, Bourbon M. Alves AC, et al. Among authors: soutar ak. Hum Mol Genet. 2014 Apr 1;23(7):1817-28. doi: 10.1093/hmg/ddt573. Epub 2013 Nov 13. Hum Mol Genet. 2014. PMID: 24234650

2

Familial hypercholesterolaemia in Portugal.

Bourbon M, Alves AC, Medeiros AM, Silva S, Soutar AK; Investigators of Portuguese FH Study. Bourbon M, et al. Among authors: soutar ak. Atherosclerosis. 2008 Feb;196(2):633-42. doi: 10.1016/j.atherosclerosis.2007.07.019. Epub 2007 Aug 31. Atherosclerosis. 2008. PMID: 17765246

3

Genetic diagnosis of familial hypercholesterolaemia: the importance of functional analysis of potential splice-site mutations.

Bourbon M, Duarte MA, Alves AC, Medeiros AM, Marques L, Soutar AK. Bourbon M, et al. Among authors: soutar ak. J Med Genet. 2009 May;46(5):352-7. doi: 10.1136/jmg.2007.057000. J Med Genet. 2009. PMID: 19411563 Free article.

4

In vitro functional characterization of missense mutations in the LDLR gene.

Silva S, Alves AC, Patel D, Malhó R, Soutar AK, Bourbon M. Silva S, et al. Among authors: soutar ak. Atherosclerosis. 2012 Nov;225(1):128-34. doi: 10.1016/j.atherosclerosis.2012.08.017. Epub 2012 Aug 20. Atherosclerosis. 2012. PMID: 23021490

5

Inheritance of two different alleles of the low-density lipoprotein (LDL)-receptor gene carrying the recurrent Pro664Leu mutation in a patient with homozygous familial hypercholesterolaemia.

Bourbon M, Fowler AM, Sun XM, Soutar AK. Bourbon M, et al. Among authors: soutar ak. Clin Genet. 1999 Sep;56(3):225-31. doi: 10.1034/j.1399-0004.1999.560308.x. Clin Genet. 1999. PMID: 10563483

6

A rare polymorphism in the low density lipoprotein (LDL) gene that affects mRNA splicing.

Bourbon M, Sun XM, Soutar AK. Bourbon M, et al. Among authors: soutar ak. Atherosclerosis. 2007 Nov;195(1):e17-20. doi: 10.1016/j.atherosclerosis.2007.01.034. Epub 2007 Feb 28. Atherosclerosis. 2007. PMID: 17335829 Free article.

7

Characterization of a novel cellular defect in patients with phenotypic homozygous familial hypercholesterolemia.

Norman D, Sun XM, Bourbon M, Knight BL, Naoumova RP, Soutar AK. Norman D, et al. Among authors: soutar ak. J Clin Invest. 1999 Sep;104(5):619-28. doi: 10.1172/JCI6677. J Clin Invest. 1999. PMID: 10487776 Free PMC article.

8

Determinants of variable response to statin treatment in patients with refractory familial hypercholesterolemia.

O'Neill FH, Patel DD, Knight BL, Neuwirth CK, Bourbon M, Soutar AK, Taylor GW, Thompson GR, Naoumova RP. O'Neill FH, et al. Among authors: soutar ak. Arterioscler Thromb Vasc Biol. 2001 May;21(5):832-7. doi: 10.1161/01.atv.21.5.832. Arterioscler Thromb Vasc Biol. 2001. PMID: 11348882 Clinical Trial.

9

A mutation (T-45C) in the promoter region of the low-density-lipoprotein (LDL)-receptor gene is associated with a mild clinical phenotype in a patient with heterozygous familial hypercholesterolaemia (FH).

Sun XM, Neuwirth C, Wade DP, Knight BL, Soutar AK. Sun XM, et al. Among authors: soutar ak. Hum Mol Genet. 1995 Nov;4(11):2125-9. doi: 10.1093/hmg/4.11.2125. Hum Mol Genet. 1995. PMID: 8589690

10

Evidence for effect of mutant PCSK9 on apolipoprotein B secretion as the cause of unusually severe dominant hypercholesterolaemia.

Sun XM, Eden ER, Tosi I, Neuwirth CK, Wile D, Naoumova RP, Soutar AK. Sun XM, et al. Among authors: soutar ak. Hum Mol Genet. 2005 May 1;14(9):1161-9. doi: 10.1093/hmg/ddi128. Epub 2005 Mar 16. Hum Mol Genet. 2005. PMID: 15772090

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