Rodríguez-Rey JC - Search Results

1

A genetic variant in the LDLR promoter is responsible for part of the LDL-cholesterol variability in primary hypercholesterolemia.

De Castro-Orós I, Pérez-López J, Mateo-Gallego R, Rebollar S, Ledesma M, León M, Cofán M, Casasnovas JA, Ros E, Rodríguez-Rey JC, Civeira F, Pocoví M. De Castro-Orós I, et al. BMC Med Genomics. 2014 Apr 7;7:17. doi: 10.1186/1755-8794-7-17. BMC Med Genomics. 2014. PMID: 24708769 Free PMC article.

2

Functional analysis of LDLR promoter and 5' UTR mutations in subjects with clinical diagnosis of familial hypercholesterolemia.

De Castro-Orós I, Pampín S, Bolado-Carrancio A, De Cubas A, Palacios L, Plana N, Puzo J, Martorell E, Stef M, Masana L, Civeira F, Rodríguez-Rey JC, Pocoví M. De Castro-Orós I, et al. Hum Mutat. 2011 Aug;32(8):868-72. doi: 10.1002/humu.21520. Epub 2011 Jul 12. Hum Mutat. 2011. PMID: 21538688

3

Functional analysis of new 3' untranslated regions genetic variants in genes associated with genetic hypercholesterolemias.

Pérez-Campo FM, De Castro-Orós I, Noriega A, Cofán M, Lamiquiz-Moneo I, Cenarro A, Ros E, Civeira F, Pocoví M, Rodríguez-Rey JC. Pérez-Campo FM, et al. J Clin Lipidol. 2017 Mar-Apr;11(2):532-542. doi: 10.1016/j.jacl.2017.02.004. Epub 2017 Feb 28. J Clin Lipidol. 2017. PMID: 28502511

4

Promoter variant -204A > C of the cholesterol 7α-hydroxylase gene: association with response to plant sterols in humans and increased transcriptional activity in transfected HepG2 cells.

De Castro-Orós I, Pampín S, Cofán M, Mozas P, Pintó X, Salas-Salvadó J, Rodríguez-Rey JC, Ros E, Civeira F, Pocoví M. De Castro-Orós I, et al. Clin Nutr. 2011 Apr;30(2):239-46. doi: 10.1016/j.clnu.2010.07.020. Epub 2010 Sep 29. Clin Nutr. 2011. PMID: 20884100 Clinical Trial.

5

Rare genetic variants with large effect on triglycerides in subjects with a clinical diagnosis of familial vs nonfamilial hypertriglyceridemia.

De Castro-Orós I, Civeira F, Pueyo MJ, Mateo-Gallego R, Bolado-Carrancio A, Lamíquiz-Moneo I, Álvarez-Sala L, Fabiani F, Cofán M, Cenarro A, Rodríguez-Rey JC, Ros E, Pocoví M. De Castro-Orós I, et al. J Clin Lipidol. 2016 Jul-Aug;10(4):790-797. doi: 10.1016/j.jacl.2016.02.010. Epub 2016 Feb 23. J Clin Lipidol. 2016. PMID: 27578109

6

ABCG5/G8 gene is associated with hypercholesterolemias without mutation in candidate genes and noncholesterol sterols.

Lamiquiz-Moneo I, Baila-Rueda L, Bea AM, Mateo-Gallego R, Pérez-Calahorra S, Marco-Benedí V, Martín-Navarro A, Ros E, Cofán M, Rodríguez-Rey JC, Pocovi M, Cenarro A, Civeira F. Lamiquiz-Moneo I, et al. J Clin Lipidol. 2017 Nov-Dec;11(6):1432-1440.e4. doi: 10.1016/j.jacl.2017.09.005. Epub 2017 Oct 4. J Clin Lipidol. 2017. PMID: 29066094

7

A mutation (-49C>T) in the promoter of the low density lipoprotein receptor gene associated with familial hypercholesterolemia.

Mozas P, Galetto R, Albajar M, Ros E, Pocoví M, Rodríguez-Rey JC. Mozas P, et al. J Lipid Res. 2002 Jan;43(1):13-8. J Lipid Res. 2002. PMID: 11792717 Free article.

8

Characterization of the c.(-203)A>G variant in the glucocerebrosidase gene and its association with phenotype in Gaucher disease.

Alfonso P, Pampín S, García-Rodríguez B, Tejedor T, Domínguez C, Rodríguez-Rey JC, Giraldo P, Pocoví M. Alfonso P, et al. Clin Chim Acta. 2011 Jan 30;412(3-4):365-9. doi: 10.1016/j.cca.2010.11.013. Epub 2010 Nov 16. Clin Chim Acta. 2011. PMID: 21087600

9

Identification of recurrent and novel mutations in the LDL receptor gene in Spanish patients with familial hypercholesterolemia. Mutations in brief no. 135. Online.

Cenarro A, Jensen HK, Casao E, Civeira F, González-Bonillo J, Rodríguez-Rey JC, Gregersen N, Pocoví M. Cenarro A, et al. Hum Mutat. 1998;11(5):413. doi: 10.1002/(SICI)1098-1004(1998)11:5<413::AID-HUMU16>3.0.CO;2-I. Hum Mutat. 1998. PMID: 10206683

10

Increased glycolipid storage produced by the inheritance of a complex intronic haplotype in the α-galactosidase A (GLA) gene.

Gervas-Arruga J, Cebolla JJ, Irun P, Perez-Lopez J, Plaza L, Roche JC, Capablo JL, Rodriguez-Rey JC, Pocovi M, Giraldo P. Gervas-Arruga J, et al. BMC Genet. 2015 Sep 3;16:109. doi: 10.1186/s12863-015-0267-z. BMC Genet. 2015. PMID: 26334996 Free PMC article.

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