Search Results - "Vanhoye, Xavier"

APOB CRISPR-Cas9 Engineering in Hypobetalipoproteinemia: A Promising Tool for Functional Studies of Novel Variants by Vanhoye, Xavier, Janin, Alexandre, Caillaud, Amandine, Rimbert, Antoine, Venet, Fabienne, Gossez, Morgane, Dijk, Wieneke, Marmontel, Oriane, Nony, Séverine, Chatelain, Charlotte, Durand, Christine, Lindenbaum, Pierre, Rieusset, Jennifer, Cariou, Bertrand, Moulin, Philippe, Di Filippo, Mathilde

“…Hypobetalipoproteinemia is characterized by LDL-cholesterol and apolipoprotein B (apoB) plasma levels below the fifth percentile for age and sex. Familial…”
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Incidence of hypercholesterolemia actionable variants in a 10000+ exome cohort by Vanhoye, Xavier, Raymond, Laure

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6812 ON THE TOP PHARMACOGENETICS STUDY EXTRACTED FROM EXOME SEQUENCING DONE FOR CHRONIC KIDNEY DISEASES OF UNKNOW ORIGIN by Ponce, Fanny, Vanhoye, Xavier, Mesnard, Laurent, Hatz, Karl-Dietrich, Raymond, Laure

“…Abstract Background and Aims A recent study from a large cohort published by the Ubiquitous Pharmacogenomic Consortium demonstrates the interest of pre-emptive…”
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Exome sequencing as a first-tier test for copy number variant detection: retrospective evaluation and prospective screening in 2418 cases by Testard, Quentin, Vanhoye, Xavier, Yauy, Kevin, Naud, Marie-Emmanuelle, Vieville, Gaelle, Rousseau, Francis, Dauriat, Benjamin, Marquet, Valentine, Bourthoumieu, Sylvie, Geneviève, David, Gatinois, Vincent, Wells, Constance, Willems, Marjolaine, Coubes, Christine, Pinson, Lucile, Dard, Rodolphe, Tessier, Aude, Hervé, Bérénice, Vialard, François, Harzallah, Ines, Touraine, Renaud, Cogné, Benjamin, Deb, Wallid, Besnard, Thomas, Pichon, Olivier, Laudier, Béatrice, Mesnard, Laurent, Doreille, Alice, Busa, Tiffany, Missirian, Chantal, Satre, Véronique, Coutton, Charles, Celse, Tristan, Harbuz, Radu, Raymond, Laure, Taly, Jean-François, Thevenon, Julien

“…Despite the availability of whole exome (WES) and genome sequencing (WGS), chromosomal microarray (CMA) remains the first-line diagnostic test in most rare…”
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Phenotypic Differences Between Polygenic and Monogenic Hypobetalipoproteinemia by Rimbert, Antoine, Vanhoye, Xavier, Coulibaly, Dramane, Marrec, Marie, Pichelin, Matthieu, Charrière, Sybil, Peretti, Noël, Valéro, René, Wargny, Matthieu, Carrié, Alain, Lindenbaum, Pierre, Deleuze, Jean-François, Genin, Emmanuelle, Redon, Richard, Rollat-Farnier, Pierre Antoine, Goxe, Didier, Degraef, Gilles, Marmontel, Oriane, Divry, Eléonore, Bigot-Corbel, Edith, Moulin, Philippe, Cariou, Bertrand, Di Filippo, Mathilde

“…OBJECTIVE:Primary hypobetalipoproteinemia is characterized by LDL-C (low-density lipoprotein cholesterol) concentrations below the fifth percentile. Primary…”
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New psychoactive substances in oral fluid of drivers around a music festival in south-west France in 2017 by Richeval, Camille, Dumestre-Toulet, Véronique, Wiart, Jean-François, Vanhoye, Xavier, Humbert, Luc, Nachon-Phanithavong, Mélodie, Allorge, Delphine, Gaulier, Jean-michel

“…[Display omitted] Driving under the influence of drugs (DUID) is a worldwide problem with potentially major forensic and life-threatening consequences…”
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A new 165-SNP low-density lipoprotein cholesterol polygenic risk score based on next generation sequencing outperforms previously published scores in routine diagnostics of familial hypercholesterolemia by Vanhoye, Xavier, Bardel, Claire, Rimbert, Antoine, Moulin, Philippe, Rollat-Farnier, Pierre-Antoine, Muntaner, Manon, Marmontel, Oriane, Dumont, Sabrina, Charrière, Sybil, Cornélis, François, Ducluzeau, Pierre Henri, Fonteille, Annie, Nobecourt, Estelle, Peretti, Noël, Schillo, Franck, Wargny, Matthieu, Cariou, Bertrand, Meirhaeghe, Aline, Di Filippo, Mathilde

“…Genetic diagnosis of familial hypercholesterolemia (FH) remains unexplained in 30 to 70% of patients after exclusion of monogenic disease. There is now a…”
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Development of a new expanded next‐generation sequencing panel for genetic diseases involved in dyslipidemia by Marmontel, Oriane, Rollat‐Farnier, Pierre Antoine, Wozny, Anne‐Sophie, Charrière, Sybil, Vanhoye, Xavier, Simonet, Thomas, Chatron, Nicolas, Collin‐Chavagnac, Delphine, Nony, Séverine, Dumont, Sabrina, Mahl, Muriel, Jacobs, Chantal, Janin, Alexandre, Caussy, Cyrielle, Poinsot, Pierre, Tauveron, Igor, Bardel, Claire, Millat, Gilles, Peretti, Noël, Moulin, Philippe, Marçais, Christophe, Di Filippo, Mathilde

“…The aim of this study was to provide an efficient tool: reliable, able to increase the molecular diagnosis performance, to facilitate the detection of copy…”
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Development of a new expanded next‐generation sequencing panel for genetic diseases involved in dyslipidemia by Marmontel, Oriane, Rollat-Farnier, Pierre Antoine, Wozny, Anne‐sophie, Charrière, Sybil, Vanhoye, Xavier, Simonet, Thomas, Chatron, Nicolas, Collin-Chavagnac, Delphine, Nony, Séverine, Dumont, Sabrina, Mahl, Muriel, Jacobs, Chantal, Janin, Alexandre, Caussy, Cyrielle, Poinsot, Pierre, Tauveron, Igor, Bardel, Claire, Millat, Gilles, Peretti, Noël, Moulin, Philippe, Marçais, Christophe, Di Filippo, Mathilde

“…Abstract The aim of this study was to provide an efficient tool: reliable, able to increase the molecular diagnosis performance, to facilitate the detection of…”
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Exome-First Strategy in Adult Patients With CKD: A Cohort Study by Doreille, Alice, Lombardi, Yannis, Dancer, Marine, Lamri, Radoslava, Testard, Quentin, Vanhoye, Xavier, Lebre, Anne-Sophie, Garcia, Hugo, Rafat, Cédric, Ouali, Nacera, Luque, Yosu, Izzedine, Hassan, Esteve, Emmanuel, Cez, Alexandre, Petit-Hoang, Camille, François, Hélène, Marchal, Armance, Letavernier, Emmanuel, Frémeaux-Bacchi, Véronique, Boffa, Jean-Jacques, Rondeau, Eric, Raymond, Laure, Mesnard, Laurent

“…Exome sequencing (ES) has widened the field of nephrogenomics in adult nephrology. In addition to reporting the diagnostic yield of ES in an adult cohort…”
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