Search Results - "Bourbon, M."

The TopoVIB-Like protein family is required for meiotic DNA double-strand break formation by Robert, T., Nore, A., Brun, C., Maffre, C., Crimi, B., Bourbon, H.-M., de Massy, B.

“…Meiotic recombination is induced by the formation of DNA double-strand breaks (DSBs) catalyzed by SPO11, the ortholog of subunit A of TopoVI DNA topoisomerase…”
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Genetic Testing in Familial Hypercholesterolemia: Is It for Everyone? by Medeiros, A. M., Bourbon, M.

“…Purpose of Review Lipid measurements and genetic testing are the main diagnostic tools for FH screening that are available in many countries. A lipid profile…”
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Cholesterol levels and glomerular filtration rate – Is there any association? by Frutuoso, J, Bourbon, M

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The need to create awareness towards cholesterol by Frutuoso, J, Bourbon, M

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Looks like FH but it's not FH – Extended lipid profile of paediatric clinical FH patients reveals a different lipid profile in FH negative patients by Medeiros, A.M, Bourbon, M, Aguiar, P

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Network analysis approach to find new candidate genes and pathways involved in the pathophysiology of familial hypercholesterolemia by Rossi, N, Bourbon, M, Enguita, F

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E_LIPID: Characterization of the lipid profile in the Portuguese population by Mariano, C, Antunes, M, Rato, Q, Bourbon, M

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Diabetic vascular disease and maturity-onset diabetes of the young by Mafra, J.M, Gaspar, G, Bourbon, M

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Which Three-Dimensional Characteristics Make Efficient Inhibitors of Protein–Protein Interactions? by Kuenemann, Mélaine A, Bourbon, Laura M. L, Labbé, Céline M, Villoutreix, Bruno O, Sperandio, Olivier

“…The specific properties of protein–protein interactions (PPI) (flat, large and hydrophobic) make them harder to tackle with low-molecular-weight compounds…”
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Construction of a new familial hypercholesterolaemia variant data base: A systematic review for a 2015 update by Azevedo, S, Chora, J.R, Alves, A.C, Medeiros, A.M, Bourbon, M

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Using percentiles to diagnose familial hypercholesterolemia in Portugal by Pereira, A, Alves, A.C, Medeiros, A.M, Mariano, C, Bourbon, M

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Characterization of the dyslipidaemia profile in Portugal by Mariano, C, Alves, A.C, Bourbon, M

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Mutational analysis of the Portuguese cohort with clinical diagnosis of FH by Medeiros, A.M, Alves, A.C, Bourbon, M

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Structural analysis of APOB variants, p.(Arg3527Gln), p.(Arg1164Thr) and p.(Gln4494del), causing Familial Hypercholesterolaemia provides novel insights into variant pathogenicity by Fernández-Higuero, J. A., Etxebarria, A., Benito-Vicente, A., Alves, A. C., Arrondo, J. L. R., Ostolaza, H., Bourbon, M., Martin, C.

“…Familial hypercholesterolaemia (FH) is an inherited autosomal dominant disorder resulting from defects in the low-density lipoprotein receptor ( LDLR ), in the…”
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sdLDL/LDL ratio in familial combined hyperlipidaemia patients and familial hypercholesterolemia patients by Jamal, S, Alves, A.C, Medeiros, A.M, Bourbon, M

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In silico classification of ldlr variants leads to misdiagnosis of fh patients by Alves, A.C, Medeiros, A.M, Bourbon, M

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Apob/apoa1 ratio improves clinical criteria sensitivity for the identification of fh children by Medeiros, A, Alves, A, Aguiar, P, Bourbon, M

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Cardiovascular risk factors in a young adult population by Canilho, J, Alves, A.C, Rato, Q, Bourbon, M

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Inverse correlation between homocysteine and HDL-C by Manaças, A.R, Alves, A.C, Rato, Q, Bourbon, M

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Genotype/phenotype of FH patients: differences in childhood and adulthood by Alves, A.C, Medeiros, A.M, Bourbon, M

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