Challenging the traditional approach for interpreting genetic variants: Lessons from Fabry disease
Germain, Dominique P., Levade, Thierry, Hachulla, Eric, Knebelmann, Bertrand, Lacombe, Didier, Seguin, Vanessa Leguy, Nguyen, Karine, Noël, Esther, Rabès, Jean‐Pierre
Published in Clinical genetics (01.04.2022)
Published in Clinical genetics (01.04.2022)
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Journal Article
APOE gene variants in primary dyslipidemia
Khalil, Yara Abou, Rabès, Jean-Pierre, Boileau, Catherine, Varret, Mathilde
Published in Atherosclerosis (01.07.2021)
Published in Atherosclerosis (01.07.2021)
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Journal Article
Mutations and polymorphisms in the proprotein convertase subtilisin kexin 9 (PCSK9) gene in cholesterol metabolism and disease
Abifadel, Marianne, Rabès, Jean-Pierre, Devillers, Martine, Munnich, Arnold, Erlich, Danièle, Junien, Claudine, Varret, Mathilde, Boileau, Catherine
Published in Human mutation (01.04.2009)
Published in Human mutation (01.04.2009)
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Journal Article
Additive Effect of APOE Rare Variants on the Phenotype of Familial Hypercholesterolemia
Marmontel, Oriane, Abou-Khalil, Yara, Bluteau, Olivier, Cariou, Bertrand, Carreau, Valérie, Charrière, Sybil, Divry, Eléonore, Gallo, Antonio, Moulin, Philippe, Paillard, François, Peretti, Noel, Rabès, Jean-Pierre, Varret, Mathilde, Carrié, Alain, Di Filippo, Mathilde
Published in Arteriosclerosis, thrombosis, and vascular biology (01.07.2023)
Published in Arteriosclerosis, thrombosis, and vascular biology (01.07.2023)
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Journal Article
Familial hypercholesterolemia: experience from France
Rabès, Jean-Pierre, Béliard, Sophie, Carrié, Alain
Published in Current opinion in lipidology (01.04.2018)
Published in Current opinion in lipidology (01.04.2018)
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Journal Article
A Simple RFLP-Based Method for HFE Gene Multiplex Amplification and Determination of Hereditary Hemochromatosis-Causing Mutation C282Y and H63D Variant with Highly Sensitive Determination of Contamination
OGOUMA-AWORET, Ludmilla, de MAZANCOURT, Philippe, RABES, Jean-Pierre
Published in BioMed research international (2020)
Published in BioMed research international (2020)
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Journal Article
Genetic diagnosis of familial hypercholesterolemia is associated with a premature and high coronary heart disease risk
Séguro, Florent, Rabès, Jean‐Pierre, Taraszkiewicz, Dorota, Ruidavets, Jean‐Bernard, Bongard, Vanina, Ferrières, Jean
Published in Clinical cardiology (Mahwah, N.J.) (01.03.2018)
Published in Clinical cardiology (Mahwah, N.J.) (01.03.2018)
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Journal Article
Intronic mutations outside of Alu-repeat-rich domains of the LDL receptor gene are a cause of familial hypercholesterolemia
AMSELLEM, Sabine, BRIFFAUT, Dorothée, DE GENNES, Jean Luc, BRUKERT, Eric, BENLIAN, Pascale, CARRIE, Alain, RABES, Jean Pierre, GIRARDET, Jean Philippe, FREDENRICH, Alexandre, MOULIN, Philippe, KREMPF, Michel, REZNIK, Yves, VIALETTES, Bernard
Published in Human genetics (01.12.2002)
Published in Human genetics (01.12.2002)
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Journal Article
Molecular Spectrum of Autosomal Dominant Hypercholesterolemia in France
Marduel, Marie, Carrié, Alain, Sassolas, Agnes, Devillers, Martine, Carreau, Valérie, Di Filippo, Mathilde, Erlich, Danièle, Abifadel, Marianne, Marques‐Pinheiro, Alice, Munnich, Arnold, Junien, Claudine, Boileau, Catherine, Varret, Mathilde, Rabès, Jean‐Pierre
Published in Human mutation (01.11.2010)
Published in Human mutation (01.11.2010)
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Journal Article
C57BL/6J and A/J Mice Fed a High-Fat Diet Delineate Components of Metabolic Syndrome
Gallou‐Kabani, Catherine, Vigé, Alexandre, Gross, Marie‐Sylvie, Rabès, Jean‐Pierre, Boileau, Catherine, Larue‐Achagiotis, Christiane, Tomé, Daniel, Jais, Jean‐Philippe, Junien, Claudine
Published in Obesity (Silver Spring, Md.) (01.08.2007)
Published in Obesity (Silver Spring, Md.) (01.08.2007)
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Journal Article
Living the PCSK9 Adventure: from the Identification of a New Gene in Familial Hypercholesterolemia Towards a Potential New Class of Anticholesterol Drugs
Abifadel, Marianne, Elbitar, Sandy, El Khoury, Petra, Ghaleb, Youmna, Chémaly, Mélody, Moussalli, Marie-Line, Rabès, Jean-Pierre, Varret, Mathilde, Boileau, Catherine
Published in Current atherosclerosis reports (01.09.2014)
Published in Current atherosclerosis reports (01.09.2014)
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Journal Article
Description of a Large Family with Autosomal Dominant Hypercholesterolemia Associated with the APOE p.Leu167del Mutation
Marduel, Marie, Ouguerram, Khadija, Serre, Valérie, Bonnefont-Rousselot, Dominique, Marques-Pinheiro, Alice, Erik Berge, Knut, Devillers, Martine, Luc, Gérald, Lecerf, Jean-Michel, Tosolini, Laurent, Erlich, Danièle, Peloso, Gina M., Stitziel, Nathan, Nitchké, Patrick, Jaïs, Jean-Philippe, Abifadel, Marianne, Kathiresan, Sekar, Leren, Trond Paul, Rabès, Jean-Pierre, Boileau, Catherine, Varret, Mathilde
Published in Human mutation (01.01.2013)
Published in Human mutation (01.01.2013)
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Journal Article
Posttranscriptional Regulation of the Human LDL Receptor by the U2-Spliceosome
Zanoni, Paolo, Panteloglou, Grigorios, Othman, Alaa, Haas, Joel T, Meier, Roger, Rimbert, Antoine, Futema, Marta, Abou Khalil, Yara, Norrelykke, Simon F, Rzepiela, Andrzej J, Stoma, Szymon, Stebler, Michael, van Dijk, Freerk, Wijers, Melinde, Wolters, Justina C, Dalila, Nawar, Huijkman, Nicolette C A, Smit, Marieke, Gallo, Antonio, Carreau, Valérie, Philippi, Anne, Rabès, Jean-Pierre, Boileau, Catherine, Visentin, Michele, Vonghia, Luisa, Weyler, Jonas, Francque, Sven, Verrijken, An, Verhaegen, Ann, Van Gaal, Luc, van der Graaf, Adriaan, van Rosmalen, Belle V, Robert, Jerome, Velagapudi, Srividya, Yalcinkaya, Mustafa, Keel, Michaela, Radosavljevic, Silvija, Geier, Andreas, Tybjaerg-Hansen, Anne, Varret, Mathilde, Rohrer, Lucia, Humphries, Steve E, Staels, Bart, van de Sluis, Bart, Kuivenhoven, Jan Albert, von Eckardstein, Arnold
Published in Circulation research (07.01.2022)
Published in Circulation research (07.01.2022)
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Journal Article
Mutations in PCSK9 cause autosomal dominant hypercholesterolemia
Moulin, Philippe, Wickham, Louise, Bruckert, Eric, Lecerf, Jean-Michel, Krempf, Michel, Varret, Mathilde, Chambaz, Jean, Allard, Delphine, Derré, Aurélie, Rabès, Jean-Pierre, Villéger, Ludovic, Junien, Claudine, Erlich, Danièle, Beucler, Isabel, Cruaud, Corinne, Benjannet, Suzanne, Farnier, Michel, Ouguerram, Khadija, Devillers, Martine, Boileau, Catherine, Luc, Gerald, Weissenbach, Jean, Abifadel, Marianne, Prat, Annick, Chanu, Bernard, Seidah, Nabil G
Published in Nature genetics (01.06.2003)
Published in Nature genetics (01.06.2003)
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Journal Article
Real-World Efficacy of Proprotein Convertase Subtilisin/Kexin Type 9 Inhibitors (PCSK9i) in Heterozygous Familial Hypercholesterolemia Patients Referred for Lipoprotein Apheresis
Matta, Anthony, Bongard, Vanina, Bouisset, Frédéric, Taraszkiewicz, Dorota, Rabès, Jean-Pierre, Ferrières, Jean
Published in Medical science monitor (07.05.2021)
Published in Medical science monitor (07.05.2021)
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Journal Article
Identification and characterization of new gain-of-function mutations in the PCSK9 gene responsible for autosomal dominant hypercholesterolemia
Abifadel, Marianne, Guerin, Maryse, Benjannet, Suzanne, Rabès, Jean-Pierre, Le Goff, Wilfried, Julia, Zélie, Hamelin, Josée, Carreau, Valérie, Varret, Mathilde, Bruckert, Eric, Tosolini, Laurent, Meilhac, Olivier, Couvert, Philippe, Bonnefont-Rousselot, Dominique, Chapman, John, Carrié, Alain, Michel, Jean-Baptiste, Prat, Annik, Seidah, Nabil G, Boileau, Catherine
Published in Atherosclerosis (01.08.2012)
Published in Atherosclerosis (01.08.2012)
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Journal Article
Prevalence of familial hypercholesterolaemia in patients presenting with premature acute coronary syndrome
Hauguel-Moreau, Marie, Aïdan, Vincent, Hergault, Hélène, Beauchet, Alain, Pépin, Marion, Prati, Giulio, Pillière, Rémy, Ouadahi, Mounir, Josseran, Loïc, Rodon, Christophe, Rabès, Jean-Pierre, Charron, Philippe, Dubourg, Olivier, Massy, Ziad, Mansencal, Nicolas
Published in Archives of cardiovascular diseases (01.02.2022)
Published in Archives of cardiovascular diseases (01.02.2022)
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Journal Article
Treatment of pediatric heterozygous familial hypercholesterolemia 7 years after the EAS recommendations: Real-world results from a large French cohort
Peretti, Noel, Vimont, Alexandre, Mas, Emmanuel, Lemale, Julie, Reynaud, Rachel, Tounian, Patrick, Poinsot, Pierre, Restier, Liora, Paillard, François, Pradignac, Alain, Pucheu, Yann, Rabès, Jean-Pierre, Bruckert, Eric, Gallo, Antonio, Béliard, Sophie
Published in Archives de pédiatrie : organe officiel de la Société française de pédiatrie (01.04.2024)
Published in Archives de pédiatrie : organe officiel de la Société française de pédiatrie (01.04.2024)
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Journal Article
New Sequencing technologies help revealing unexpected mutations in Autosomal Dominant Hypercholesterolemia
Elbitar, Sandy, Susan-Resiga, Delia, Ghaleb, Youmna, El Khoury, Petra, Peloso, Gina, Stitziel, Nathan, Rabès, Jean-Pierre, Carreau, Valérie, Hamelin, Josée, Ben-Djoudi-Ouadda, Ali, Bruckert, Eric, Boileau, Catherine, Seidah, Nabil G, Varret, Mathilde, Abifadel, Marianne
Published in Scientific reports (31.01.2018)
Published in Scientific reports (31.01.2018)
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