Familial hypercholesterolemia: A largely underestimated cardiovascular risk
Ferrières, J, Bruckert, É, Béliard, S, Rabès, J-P, Farnier, M, Krempf, M, Cariou, B, Danchin, N
Published in Annales de cardiologie et d'angeiologie (01.02.2018)
Published in Annales de cardiologie et d'angeiologie (01.02.2018)
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Limited mutational heterogeneity in the LDLR gene in familial hypercholesterolemia in Tunisia
Jelassi, A, Jguirim, I, Najah, M, Abid, A.M, Boughamoura, L, Maatouk, F, Rouis, M, Boileau, C, Rabès, J.P, Slimane, M.N, Varret, M
Published in Atherosclerosis (01.04.2009)
Published in Atherosclerosis (01.04.2009)
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A novel splice site mutation of the LDL receptor gene in a Tunisian hypercholesterolemic family
Jelassi, A., Najah, M., Jguirim, I., Maatouk, F., Lestavel, S., Laroussi, O.S., Rouis, M., Boileau, C., Rabès, J.P., Varret, M., Slimane, M.N.
Published in Clinica chimica acta (01.06.2008)
Published in Clinica chimica acta (01.06.2008)
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Mutational heterogeneity in low-density lipoprotein receptor gene related to familial hypercholesterolemia in Morocco
Chater, R., Aït Chihab, K., Rabès, J.P., Varret, M., Chabraoui, L., El Jahiri, Y., Adlouni, A., Boileau, C., Kettani, A., El Messal, M.
Published in Clinica chimica acta (01.11.2006)
Published in Clinica chimica acta (01.11.2006)
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Identification of the first Lebanese mutation in the LPL gene and description of a rapid detection method
Abifadel, M., Jambart, S., Allard, D., Rabès, J.-P., Varret, M., Derré, A., Chouery, E., Salem, N., Junien, C., Aydénian, H., Boileau, C.
Published in Clinical genetics (01.02.2004)
Published in Clinical genetics (01.02.2004)
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A Third Major Locus for Autosomal Dominant Hypercholesterolemia Maps to 1p34.1-p32
Varret, Mathilde, Rabès, Jean-Pierre, Saint-Jore, Bruno, Cenarro, Ana, Marinoni, Jean-Christophe, Civeira, Fernando, Devillers, Martine, Krempf, Michel, Coulon, Monique, Thiart, Rochelle, Kotze, Maritha J., Schmidt, Helena, Buzzi, Jean-Claude, Kostner, Gert M., Bertolini, Stephano, Pocovi, Miguel, Rosa, Alberto, Farnier, Michel, Martinez, Maria, Junien, Claudine, Boileau, Catherine
Published in American journal of human genetics (01.05.1999)
Published in American journal of human genetics (01.05.1999)
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Software and database for the analysis of mutations in the human LDL receptor gene
Varret, M, Rabes, J.P, Collod-Beroud, G, Junien, C, Boileau, C, Beroud, C
Published in Nucleic acids research (1997)
Published in Nucleic acids research (1997)
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R3531C Mutation in the Apolipoprotein B Gene Is Not Sufficient to Cause Hypercholesterolemia
Rabès, Jean-Pierre, Varret, Mathilde, Devillers, Martine, Aegerter, Philippe, Villéger, Ludovic, Krempf, Michel, Junien, Claudine, Boileau, Catherine
Published in Arteriosclerosis, thrombosis, and vascular biology (01.10.2000)
Published in Arteriosclerosis, thrombosis, and vascular biology (01.10.2000)
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A PCSK9 variant and familial combined hyperlipidaemia
Abifadel, M, Bernier, L, Dubuc, G, Nuel, G, Rabès, J-P, Bonneau, J, Marques, A, Marduel, M, Devillers, M, Munnich, A, Erlich, D, Varret, M, Roy, M, Davignon, J, Boileau, C
Published in Journal of medical genetics (01.12.2008)
Published in Journal of medical genetics (01.12.2008)
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Familial ligand-defective apolipoprotein B-100: Simultaneous detection of the ARG3500→GLN and ARG3531→CYS mutations in a French population
Rabès, JP, Varret, M, Saint-Jore, B, Erlich, D, Jondeau, G, Krempf, M, Giraudet, P, Junien, C, Boileau, C
Published in Human mutation (1997)
Published in Human mutation (1997)
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Myotonic dystrophy : size- and sex-dependent dynamics of CTG meiotic instability, and somatic mosaicism
LAVEDAN, C, HOFMANN-RADVANYI, H, SHELBOURNE, P, RABES, J.-P, DUROS, C, SAVOY, D, DEHAUPAS, I, LUCE, S, JOHNSON, K, JUNIEN, C
Published in American journal of human genetics (01.05.1993)
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Published in American journal of human genetics (01.05.1993)
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Involvement of U2-spliceosome in autosomal dominant hypercholesterolemia
Jan, M., Khalil, Y. Abou, Diallo, A., Gallo, A., Carreau, V., Philippi, A., Rabès, J.-P., Boileau, C., Abi-Fadel, M., Varret, M.
Published in Atherosclerosis (01.08.2023)
Published in Atherosclerosis (01.08.2023)
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Nasopharyngeal carriage of SARS-CoV-2 among health personnel with symptoms suggestive of COVID-19 in a University Hospital in the Paris suburbs
Greffe, S, Espinasse, F, Duran, C, Labrune, S, Sirol, M, Mantalvan, B, Gramer, M C, Babulle, C, Do Rosario, G, Vauvillier, Q, Huet, A, Van der Heidjen, A, Tysebaert, J, Kramarz, L F, Rabes, J-P, Pellissier, G, Chinet, T, Moreau, F, Rouveix, E
Published in La revue de medecine interne (01.08.2020)
Published in La revue de medecine interne (01.08.2020)
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Additive effect of APOE rare variants on the phenotype of familial hypercholesterolemia
Marmontel, O., Khalil, Y. Abou, Bluteau, O., Cariou, B., Carreau, V., Charrière, S., Divry, E., Moulin, P., Peretti, N., Rabès, J.-P., Varret, M., Carrié, A., Di Filippo, M.
Published in Atherosclerosis (01.08.2023)
Published in Atherosclerosis (01.08.2023)
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Whole exome/genome sequencing joint analysis in a family with oligogenic familial hypercholesterolemia
Ghaleb, Y., El Bitar, S., Philippi, A., El Khoury, P., Azar, Y., Andrianirina, M., Loste, A., Abou-Khalil, Y., Nicolas, G., Le Borgne, M., Moulin, P., Di Filippo, M., Charriere, S., Farnier, M., Yelnik, C., Carreau, V., Ferrières, J., Lecerf, J.-M., Derksen, A., Bernard, G., Gauthier, M.-S., Coulombe, B., Luetjohann, D., Finn, B., Boland, A., Olaso, R., Deleuze, J.-F., Rabès, J.-P., Boileau, C., Abifadel, M., Varret, M.
Published in Atherosclerosis (01.08.2022)
Published in Atherosclerosis (01.08.2022)
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Single point mutation at Arg506 of factor V associated with APC resistance and venous thromboembolism: improved detection by PCR-mediated site-directed mutagenesis
Rabès, J P, Trossaert, M, Conard, J, Samama, M, Giraudet, P, Boileau, C
Published in Thrombosis and haemostasis (1995)
Published in Thrombosis and haemostasis (1995)
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The U2-spliceosome and its interactors regulate the levels and activity of the LDL receptor in humans
Zanoni, P., Panteloglou, G., Othman, A., Haas, J.T., Meier, R., Rimbert, A., Futema, M., Khalil, Y. Abou, Norrelykke, S.F., Rzepiela, A.J., Stoma, S., Stebler, M., Van Dijk, F., Wijers, M., Wolters, J.C., Dalila, N., Huijkman, N., Smit, M., Gallo, A., Carreau, V., Philippi, A., Rabès, J.-P., Boileau, C., Visentin, M., Vonghia, L., Weyler, J., Francque, S.M., Verrijken, A., Verhaegen, A., Van Gaal, L., Van Der Graaf, A., Van Rosmalen, B.V., Velagapudi, S., Yalcinkaya, M., Keel, M., Radosavljevic, S., Geier, A., Tybjærg-Hansen, A., Varret, M., Rohrer, L., Humphries, S.E., Staels, B., Van De Sluis, B., Kuivenhoven, J.A., Von Eckardstein, A.
Published in Atherosclerosis (01.12.2020)
Published in Atherosclerosis (01.12.2020)
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Autosomal dominant type IIa hypercholesterolemia: evaluation of the respective contributions of LDLR and APOB gene defects as well as a third major group of defects
Saint-Jore, B, Varret, M, Dachet, C, Rabès, J P, Devillers, M, Erlich, D, Blanchard, P, Krempf, M, Mathé, D, Chanu, B, Jacotot, B, Farnier, M, Bonaïti-Péllié, C, Junien, C, Boileau, C
Published in European journal of human genetics : EJHG (01.08.2000)
Published in European journal of human genetics : EJHG (01.08.2000)
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