Publications by authors named "Rosa Roig"

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Comprehensive Genetic Testing of : A Retrospective Analysis in Patients with Suspected Congenital Adrenal Hyperplasia.
Madalina Nicoleta Nan, Rosa Roig, Susana Martínez, Jose Rives, Eulàlia Urgell

J Clin Med· March 2021

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Polygenic Markers in Patients Diagnosed of Autosomal Dominant Hypercholesterolemia in Catalonia: Distribution of Weighted LDL-c-Raising SNP Scores and Refinement of Variant Selection.
Jesús M Martín-Campos, Sheila Ruiz-Nogales, Daiana Ibarretxe, Emilio Ortega, Elisabet Sánchez-Pujol, Rosa Roig

Biomedicines· September 2020

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Autosomal dominant hypercholesterolemia in Catalonia: Correspondence between clinical-biochemical and genetic diagnostics in 967 patients studied in a multicenter clinical setting.
Jesús M Martín-Campos, Núria Plana, Rosaura Figueras, Daiana Ibarretxe, Assumpta Caixàs, Rosa Roig

J Clin Lipidol· October 2019

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Molecular analysis of APOB, SAR1B, ANGPTL3, and MTTP in patients with primary hypocholesterolemia in a clinical laboratory setting: Evidence supporting polygenicity in mutation-negative patients.
Francisco Blanco-Vaca, Jesús M Martin-Campos, Ángel Beteta-Vicente, Marina Canyelles, Susana Martínez, Rosa Roig

Atherosclerosis· April 2019

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Molecular analysis of chylomicronemia in a clinical laboratory setting: diagnosis of 13 cases of lipoprotein lipase deficiency.
Jesús M Martín-Campos, Josep Julve, Rosa Roig, Susana Martínez, Teresa Laura Errico

Clin Chim Acta· February 2014

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Structural and functional analysis of APOA5 mutations identified in patients with severe hypertriglyceridemia.
Elena Mendoza-Barberá, Josep Julve, Stefan K Nilsson, Aivar Lookene, Jesús M Martín-Campos, Rosa Roig

J Lipid Res· March 2013

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Identification of a novel mutation in the ANGPTL3 gene in two families diagnosed of familial hypobetalipoproteinemia without APOB mutation.
Jesús M Martín-Campos, Rosa Roig, Carme Mayoral, Silvia Martinez, Gertrudis Martí

Clin Chim Acta· March 2012

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Liver X receptor-mediated activation of reverse cholesterol transport from macrophages to feces in vivo requires ABCG5/G8.
Laura Calpe-Berdiel, Noemí Rotllan, Catherine Fiévet, Rosa Roig, Francisco Blanco-Vaca

J Lipid Res· September 2008

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