Benito-Vicente A - Search Results

1

The importance of an integrated analysis of clinical, molecular, and functional data for the genetic diagnosis of familial hypercholesterolemia.

Benito-Vicente A, Alves AC, Etxebarria A, Medeiros AM, Martin C, Bourbon M. Benito-Vicente A, et al. Genet Med. 2015 Dec;17(12):980-8. doi: 10.1038/gim.2015.14. Epub 2015 Mar 5. Genet Med. 2015. PMID: 25741862 Free article.

2

Functional characterization and classification of frequent low-density lipoprotein receptor variants.

Etxebarria A, Benito-Vicente A, Palacios L, Stef M, Cenarro A, Civeira F, Ostolaza H, Martin C. Etxebarria A, et al. Hum Mutat. 2015 Jan;36(1):129-41. doi: 10.1002/humu.22721. Epub 2014 Nov 27. Hum Mutat. 2015. PMID: 25378237

3

Advantages and versatility of fluorescence-based methodology to characterize the functionality of LDLR and class mutation assignment.

Etxebarria A, Benito-Vicente A, Alves AC, Ostolaza H, Bourbon M, Martin C. Etxebarria A, et al. PLoS One. 2014 Nov 11;9(11):e112677. doi: 10.1371/journal.pone.0112677. eCollection 2014. PLoS One. 2014. PMID: 25386756 Free PMC article.

4

Activity-associated effect of LDL receptor missense variants located in the cysteine-rich repeats.

Etxebarria A, Benito-Vicente A, Stef M, Ostolaza H, Palacios L, Martin C. Etxebarria A, et al. Atherosclerosis. 2015 Feb;238(2):304-12. doi: 10.1016/j.atherosclerosis.2014.12.026. Epub 2014 Dec 20. Atherosclerosis. 2015. PMID: 25545329

5

Characterization of the first PCSK9 gain of function homozygote.

Alves AC, Etxebarria A, Medeiros AM, Benito-Vicente A, Thedrez A, Passard M, Croyal M, Martin C, Lambert G, Bourbon M. Alves AC, et al. J Am Coll Cardiol. 2015 Nov 10;66(19):2152-2154. doi: 10.1016/j.jacc.2015.08.871. J Am Coll Cardiol. 2015. PMID: 26541928 Free article. No abstract available.

6

Structural analysis of APOB variants, p.(Arg3527Gln), p.(Arg1164Thr) and p.(Gln4494del), causing Familial Hypercholesterolaemia provides novel insights into variant pathogenicity.

Fernández-Higuero JA, Etxebarria A, Benito-Vicente A, Alves AC, Arrondo JL, Ostolaza H, Bourbon M, Martin C. Fernández-Higuero JA, et al. Sci Rep. 2015 Dec 8;5:18184. doi: 10.1038/srep18184. Sci Rep. 2015. PMID: 26643808 Free PMC article.

7

The p.Leu167del Mutation in APOE Gene Causes Autosomal Dominant Hypercholesterolemia by Down-regulation of LDL Receptor Expression in Hepatocytes.

Cenarro A, Etxebarria A, de Castro-Orós I, Stef M, Bea AM, Palacios L, Mateo-Gallego R, Benito-Vicente A, Ostolaza H, Tejedor T, Martín C, Civeira F. Cenarro A, et al. J Clin Endocrinol Metab. 2016 May;101(5):2113-21. doi: 10.1210/jc.2015-3874. Epub 2016 Mar 25. J Clin Endocrinol Metab. 2016. PMID: 27014949

8

Structural changes induced by acidic pH in human apolipoprotein B-100.

Fernández-Higuero JA, Benito-Vicente A, Etxebarria A, Milicua JC, Ostolaza H, Arrondo JL, Martín C. Fernández-Higuero JA, et al. Sci Rep. 2016 Nov 8;6:36324. doi: 10.1038/srep36324. Sci Rep. 2016. PMID: 27824107 Free PMC article.

9

The use of targeted exome sequencing in genetic diagnosis of young patients with severe hypercholesterolemia.

Jiang L, Wu WF, Sun LY, Chen PP, Wang W, Benito-Vicente A, Zhang F, Pan XD, Cui W, Yang SW, Zhou YJ, Martin C, Wang LY. Jiang L, et al. Sci Rep. 2016 Nov 10;6:36823. doi: 10.1038/srep36823. Sci Rep. 2016. PMID: 27830735 Free PMC article.

10

Analysis of LDLR variants from homozygous FH patients carrying multiple mutations in the LDLR gene.

Jiang L, Benito-Vicente A, Tang L, Etxebarria A, Cui W, Uribe KB, Pan XD, Ostolaza H, Yang SW, Zhou YJ, Martin C, Wang LY. Jiang L, et al. Atherosclerosis. 2017 Aug;263:163-170. doi: 10.1016/j.atherosclerosis.2017.06.014. Epub 2017 Jun 8. Atherosclerosis. 2017. PMID: 28645073

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