Search Results - "Khalil, Yara"

APOE gene variants in primary dyslipidemia by Khalil, Yara Abou, Rabès, Jean-Pierre, Boileau, Catherine, Varret, Mathilde

“…Apolipoprotein E (apoE) is a major apolipoprotein involved in lipoprotein metabolism. It is a polymorphic protein and different isoforms are associated with…”
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Pathogenic variants in THSD4, encoding the ADAMTS-like 6 protein, predispose to inherited thoracic aortic aneurysm by Elbitar, Sandy, Renard, Marjolijn, Arnaud, Pauline, Hanna, Nadine, Jacob, Marie-Paule, Guo, Dong-Chuan, Tsutsui, Ko, Gross, Marie-Sylvie, Kessler, Ketty, Tosolini, Laurent, Dattilo, Vincenzo, Dupont, Sebastien, Jonquet, Jeremie, Langeois, Maud, Benarroch, Louise, Aubart, Melodie, Ghaleb, Youmna, Abou Khalil, Yara, Varret, Mathilde, El Khoury, Petra, Ho-Tin-Noé, Benoit, Alembik, Yves, Gaertner, Sébastien, Isidor, Bertrand, Gouya, Laurent, Milleron, Olivier, Sekiguchi, Kiyotoshi, Milewicz, Dianna, De Backer, Julie, Le Goff, Carine, Michel, Jean-Baptiste, Jondeau, Guillaume, Sakai, Lynn Y., Boileau, Catherine, Abifadel, Marianne

“…Thoracic aortic aneurysm and dissection (TAAD) is a life-threatening disease with often unrecognized inherited forms. We sought to identify novel pathogenic…”
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PCSK9 Mutations in Familial Hypercholesterolemia: from a Groundbreaking Discovery to Anti-PCSK9 Therapies by El Khoury, Petra, Elbitar, Sandy, Ghaleb, Youmna, Khalil, Yara Abou, Varret, Mathilde, Boileau, Catherine, Abifadel, Marianne

“…Purpose of Review In 2003, Abifadel et al. ( Nat. Genet. 34:154–156, 2003) identified PCSK9 , encoding proprotein convertase subtilisin/kexin type 9, as the…”
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APOE Molecular Spectrum in a French Cohort with Primary Dyslipidemia by Abou Khalil, Yara, Marmontel, Oriane, Ferrières, Jean, Paillard, François, Yelnik, Cécile, Carreau, Valérie, Charrière, Sybil, Bruckert, Eric, Gallo, Antonio, Giral, Philippe, Philippi, Anne, Bluteau, Olivier, Boileau, Catherine, Abifadel, Marianne, Di-Filippo, Mathilde, Carrié, Alain, Rabès, Jean-Pierre, Varret, Mathilde

“…Primary hypercholesterolemia is characterized by elevated LDL-cholesterol (LDL-C) levels isolated in autosomal dominant hypercholesterolemia (ADH) or…”
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Plasma proprotein‐convertase‐subtilisin/kexin type 9 (PCSK9) and cardiovascular events in type 2 diabetes by El Khoury, Petra, Roussel, Ronan, Fumeron, Frederic, Abou‐Khalil, Yara, Velho, Gilberto, Mohammedi, Kamel, Jacob, Marie‐Paule, Steg, Philippe Gabriel, Potier, Louis, Ghaleb, Youmna, Elbitar, Sandy, Ragot, Stephanie, Andreata, Francesco, Caligiuri, Giusepinna, Hadjadj, Samy, Boileau, Catherine, Marre, Michel, Abifadel, Marianne, Varret, Mathilde, Hansel, Boris

“…Aim To investigate whether plasma concentrations of proprotein‐convertase‐subtilisin/kexin type 9 (PCSK9) were associated with cardiovascular (CV) events in…”
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Posttranscriptional Regulation of the Human LDL Receptor by the U2-Spliceosome by 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

“…The LDLR (low-density lipoprotein receptor) in the liver is the major determinant of LDL-cholesterol levels in human plasma. The discovery of genes that…”
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The BioExperience Research and Entrepreneurship Challenge: An iGEM-inspired applied research program for BIOSTEM talent and skills development by Gill, Hertek, Ahsan, Mahdi, Khalil, Yara, Feng, Victoria, Pearce, Jessie, Sharma, Tarasha, Radwan, Mohamad, Boucinha, Austin, Kærn, Mads

“…Post-secondary education is falling behind in delivering the talent and skills development needed to support the growth of biology-based economies and the…”
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Circulating PCSK9 Linked to Dyslipidemia in Lebanese Schoolchildren by Azar, Yara, Gannagé-Yared, Marie-Hélène, Naous, Elie, Ayoub, Carine, Abou Khalil, Yara, Chahine, Elise, Elbitar, Sandy, Ghaleb, Youmna, Boileau, Catherine, Varret, Mathilde, El Khoury, Petra, Abifadel, Marianne

“…In adults, elevated levels of circulating Proprotein Convertase Subtilisin/Kexin type 9 (PCSK9) have been associated with increased Low-density lipoprotein…”
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Therapeutic hypothermia modifies perinatal asphyxia-induced changes of the corpus callosum and outcome in neonates by Alderliesten, Thomas, de Vries, Linda S, Khalil, Yara, van Haastert, Ingrid C, Benders, Manon J N L, Koopman-Esseboom, Corine, Groenendaal, Floris

“…WHAT IS KNOWN ABOUT THIS SUBJECT?: Diffusion-weighted MRI has demonstrated changes in the corpus callosum of term neonates with perinatal asphyxia. The…”
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Low circulating PCSK9 levels in LPL homozygous children with chylomicronemia syndrome in a syrian refugee family in Lebanon by Ayoub, Carine, Azar, Yara, Maddah, Dina, Ghaleb, Youmna, Elbitar, Sandy, Abou-Khalil, Yara, Jambart, Selim, Varret, Mathilde, Boileau, Catherine, El Khoury, Petra, Abifadel, Marianne

“…Familial chylomicronemia syndrome is a rare autosomal recessive disorder of lipoprotein metabolism characterized by the presence of chylomicrons in fasting…”
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Identification of a Variant in APOB Gene as a Major Cause of Hypobetalipoproteinemia in Lebanese Families by Ayoub, Carine, Azar, Yara, Abou-Khalil, Yara, Ghaleb, Youmna, Elbitar, Sandy, Halaby, Georges, Jambart, Selim, Gannagé-Yared, Marie-Hélène, Yaghi, Cesar, Saade Riachy, Carole, El Khoury, Ralph, Rabès, Jean-Pierre, Varret, Mathilde, Boileau, Catherine, El Khoury, Petra, Abifadel, Marianne

“…Familial hypobetalipoproteinemia (FHBL) is a codominant genetic disorder characterized by reduced plasma levels of low-density lipoprotein cholesterol and…”
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Corrigendum to "APOE gene variants in primary dyslipidemia" [Atherosclerosis (2021 Jul) 328 11-22] by Abou Khalil, Yara, Rabès, Jean-Pierre, Boileau, Catherine, Varret, Mathilde

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Rare variants in U2-spliceosome genes are involved in autosomal dominant hypercholesterolemia by Jan, Maëlle, Khalil, Yara Abou, Diallo, Abdoul Karim, Gallo, Antonio, Carreau, Valerie, Philippi, Anne, Rabès, Jean-Pierre, Abi-Fadel, Marianne, Boileau, Catherine, Varret, Mathilde

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Additive Effect of APOE Rare Variants on the Phenotype of Familial Hypercholesterolemia by Marmontel, Oriane, Abou-Khalil, Yara, Bluteau, Olivier, Cariou, Bertrand, Carreau, Valérie, Charrière, Sybil, Divry, Eleonore, Gallo, Antonio, Moulin, Philippe, Paillard, François, Peretti, Noel, Rabès, Jean-Pierre, Varret, Mathilde, Carrié, Alain, Di Filippo, Mathilde

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Additive Effect of APOE Rare Variants on the Phenotype of Familial Hypercholesterolemia by 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

“…Autosomal dominant hypercholesterolemia (ADH) is due to deleterious variants in , , or genes. Double heterozygote for these genes induces a more severe…”
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APOE Molecular Spectrum in a French Cohort with Primary Dyslipidemia by Abou Khalil, Yara, Marmontel, Oriane, Ferrières, Jean, Paillard, François, Yelnik, Cécile, Carreau, Valérie, Charrière, Sybil, Bruckert, Eric, Gallo, Antonio, Giral, Philippe, Philippi, Anne, Bluteau, Olivier, Boileau, Catherine, Abifadel, Marianne, Di-Filippo, Mathilde, Carrié, Alain, Rabès, Jean-Pierre, Varret, Mathilde

“…Primary hypercholesterolemia is characterized by elevated LDL-cholesterol (LDL-C) levels isolated in autosomal dominant hypercholesterolemia (ADH) or…”
Get full text

Posttranscriptional Regulation of the Human LDL Receptor by the U2-Spliceosome by Zanoni, Paolo, Panteloglou, Grigorios, Othman, Alaa, Haas, Joel T., Meier, Roger, Rimbert, Antoine, Futema, Marta, Khalil, Yara Abou, 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

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Identification of the first Tangier disease patient in Lebanon carrying a new pathogenic variant in ABCA1 by El Khoury, Petra, Couvert, Philippe, Elbitar, Sandy, Ghaleb, Youmna, Abou-Khalil, Yara, Azar, Yara, Ayoub, Carine, Superville, Alexandre, Guérin, Maryse, Rabès, Jean-Pierre, Varret, Mathilde, Boileau, Catherine, Jambart, Selim, Giral, Philippe, Carrié, Alain, Le Goff, Wilfried, Abifadel, Marianne

“…The Middle East region is characterized by low levels of high-density lipoprotein cholesterol (HDL-C). To date, no genetic study has investigated the cause of…”
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Whole Exome/Genome Sequencing Joint Analysis of a Family with Oligogenic Familial Hypercholesterolemia by Ghaleb, Youmna, Elbitar, Sandy, Philippi, Anne, El Khoury, Petra, Azar, Yara, Andrianirina, Miangaly, Loste, Alexia, Abou-Khalil, Yara, Nicolas, Gaël, Le Borgne, Marie, Moulin, Philippe, Di-Filippo, Mathilde, Charrière, Sybil, Farnier, Michel, Yelnick, Cécile, Carreau, Valérie, Ferrières, Jean, Lecerf, Jean-Michel, Derksen, Alexa, Bernard, Geneviève, Gauthier, Marie-Soleil, Coulombe, Benoit, Lütjohann, Dieter, Fin, Bertrand, Boland, Anne, Olaso, Robert, Deleuze, Jean-François, Rabès, Jean-Pierre, Boileau, Catherine, Abifadel, Marianne, Varret, Mathilde

“…Autosomal Dominant Hypercholesterolemia (ADH) is a genetic disorder caused by pathogenic variants in LDLR, APOB, PCSK9 and APOE genes. We sought to identify…”
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Whole Exome/Genome Sequencing Joint Analysis of a Family with Oligogenic Familial Hypercholesterolemia by Ghaleb, Youmna, Elbitar, Sandy, Philippi, Anne, El Khoury, Petra, Azar, Yara, Andrianirina, Miangaly, Loste, Alexia, Abou-Khalil, Yara, Nicolas, Gaël, Le Borgne, Marie, Moulin, Philippe, Di-Filippo, Mathilde, Charrière, Sybil, Farnier, Michel, Yelnick, Cécile, Carreau, Valérie, Ferrières, Jean, Lecerf, Jean-Michel, Derksen, Alexa, Bernard, Geneviève, Gauthier, Marie-Soleil, Coulombe, Benoit, Lütjohann, Dieter, Fin, Bertrand, Boland, Anne, Olaso, Robert, Deleuze, Jean-François, Rabès, Jean-Pierre, Boileau, Catherine, Abifadel, Marianne, Varret, Mathilde

“…Autosomal Dominant Hypercholesterolemia (ADH) is a genetic disorder caused by pathogenic variants in , , and genes. We sought to identify new candidate genes…”
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