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Pilar Mozas

University of Zaragoza

32

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827

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Evaluation of two approaches to lysosomal acid lipase deficiency patient identification: An observational retrospective study

2019 Atherosclerosis
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Genetic Variants of LDLR and PCSK9 Associated with Variations in Response to Antihypercholesterolemic Effects of Armolipid Plus with Berberine.

2016 PLOS ONE
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A presumptive new locus for autosomal dominant hypercholesterolemia mapping to 8q24.22

2011 Clinical Genetics
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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.

2011 Clinical Nutrition
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MS530 NEW LPL AND APOA5 GEN MUTATIONS IDENTIFIED IN SUBJECTS WITH SEVERE HYPERTRIGLYCERIDEMIA

2010 Atherosclerosis Supplements
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Comparison of DNA Array Platform vs DNA Sequencing as Genetic Diagnosis Tools for Familial Hypercholesterolemia

2006 Clinical Chemistry
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Mo-P6:456 Interactions between genetic variation of intestinal sterol absorption, serum sterols, and response to plant sterol in hypercholesterolemic patients

2006 Atherosclerosis Supplements
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Reliable Low-Density DNA Array Based on Allele-Specific Probes for Detection of 118 Mutations Causing Familial Hypercholesterolemia

2005 Clinical Chemistry
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Screening of APOB Gene Mutations in Subjects with Clinical Diagnosis of Familial Hypercholesterolemia

2005 Human Biology
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MOLECULAR CHARACTERIZATION OF FAMILIAL HYPERCHOLESTEROLEMIA IN SPAIN: IDENTIFICATION OF 39 NOVEL AND 77 RECURRENT MUTATIONS IN LDLR

2004 Human Mutation
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Citations (73)