Benito-Vicente A - Search Results

1

p.(Asp47Asn) and p.(Thr62Met): non deleterious LDL receptor missense variants functionally characterized in vitro.

Benito-Vicente A, Siddiqi H, Uribe KB, Jebari S, Galicia-Garcia U, Larrea-Sebal A, Stef M, Ostolaza H, Palacios L, Martin C. Benito-Vicente A, et al. Sci Rep. 2018 Nov 9;8(1):16614. doi: 10.1038/s41598-018-34715-x. Sci Rep. 2018. PMID: 30413722 Free PMC 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

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.

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

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

41 results

Search Page

Filters