Bilaketaren emaitzak - Varret, Mathilde

Autosomal Dominant Hypercholesterolemia: Needs for Early Diagnosis and Cascade Screening in the Tunisian Population nork Jelassi, Awatef, Najah, Mohamed, Slimani, Afef, Jguirim, Imen, Slimane, Mohamed Naceur, Varret, Mathilde

Testu osoa Testu osoa Testu osoa

Circulating PCSK9 Linked to Dyslipidemia in Lebanese Schoolchildren nork 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

Testu osoa Testu osoa Testu osoa

Molecular Spectrum of Autosomal Dominant Hypercholesterolemia in France nork 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

Testu osoa Testu osoa Testu osoa

Molecular analysis and intestinal expression of SAR1 genes and proteins in Anderson's disease (Chylomicron retention disease) nork Georges, Amandine, Bonneau, Jessica, Bonnefont-Rousselot, Dominique, Champigneulle, Jacqueline, Rabès, Jean P, Abifadel, Marianne, Aparicio, Thomas, Guenedet, Jean C, Bruckert, Eric, Boileau, Catherine, Morali, Alain, Varret, Mathilde, Aggerbeck, Lawrence P, Samson-Bouma, Marie E

Testu osoa Testu osoa Testu osoa

Usefulness of the genetic risk score to identify phenocopies in families with familial hypercholesterolemia? nork Ghaleb, Youmna, Elbitar, Sandy, El Khoury, Petra, Bruckert, Eric, Carreau, Valérie, Carrié, Alain, Moulin, Philippe, Di-Filippo, Mathilde, Charriere, Sybil, Iliozer, Harout, Farnier, Michel, Luc, Gérald, Rabès, Jean-Pierre, Boileau, Catherine, Abifadel, Marianne, Varret, Mathilde

Testu osoa Testu osoa Testu osoa

New Sequencing technologies help revealing unexpected mutations in Autosomal Dominant Hypercholesterolemia nork 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

Testu osoa Testu osoa Testu osoa

A fourth locus for autosomal dominant hypercholesterolemia maps at 16q22.1 nork Marques-Pinheiro, Alice, Marduel, Marie, Rabès, Jean-Pierre, Devillers, Martine, Villéger, Ludovic, Allard, Delphine, Weissenbach, Jean, Guerin, Maryse, Zair, Yassine, Erlich, Danièle, Junien, Claudine, Munnich, Arnold, Krempf, Michel, Abifadel, Marianne, Jaïs, Jean-Philippe, Boileau, Catherine, Varret, Mathilde

Testu osoa Testu osoa Testu osoa

Identification of a Variant in APOB Gene as a Major Cause of Hypobetalipoproteinemia in Lebanese Families nork 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

Testu osoa Testu osoa Testu osoa

APOE Molecular Spectrum in a French Cohort with Primary Dyslipidemia nork 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

Testu osoa Testu osoa Testu osoa

Heterozygous TGFBR2 mutations in Marfan syndrome nork Mizuguchi, Takeshi, Collod-Beroud, Gwenaëlle, Akiyama, Takushi, Abifadel, Marianne, Harada, Naoki, Morisaki, Takayuki, Allard, Delphine, Varret, Mathilde, Claustres, Mireille, Morisaki, Hiroko, Ihara, Makoto, Kinoshita, Akira, Yoshiura, Koh-ichiro, Junien, Claudine, Kajii, Tadashi, Jondeau, Guillaume, Ohta, Tohru, Kishino, Tatsuya, Furukawa, Yoichi, Nakamura, Yusuke, Niikawa, Norio, Boileau, Catherine, Matsumoto, Naomichi

Testu osoa Testu osoa Testu osoa

Description of a large family with autosomal dominant hypercholesterolemia associated with the APOE p.Leu167del mutation nork Marduel, Marie, Ouguerram, Khadija, Serre, Valérie, Bonnefont-Rousselot, Dominique, Marques-Pinheiro, Alice, Berge, Knut Erik, 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

Testu osoa Testu osoa Testu osoa

MFAP5 Loss-of-Function Mutations Underscore the Involvement of Matrix Alteration in the Pathogenesis of Familial Thoracic Aortic Aneurysms and Dissections nork Barbier, Mathieu, Gross, Marie-Sylvie, Aubart, Mélodie, Hanna, Nadine, Kessler, Ketty, Guo, Dong-Chuan, Tosolini, Laurent, Ho-Tin-Noe, Benoit, Regalado, Ellen, Varret, Mathilde, Abifadel, Marianne, Milleron, Olivier, Odent, Sylvie, Dupuis-Girod, Sophie, Faivre, Laurence, Edouard, Thomas, Dulac, Yves, Busa, Tiffany, Gouya, Laurent, Milewicz, Dianna M., Jondeau, Guillaume, Boileau, Catherine

Testu osoa Testu osoa Testu osoa

TGFB2 loss of function mutations cause familial thoracic aortic aneurysms and acute aortic dissections associated with mild systemic features of the Marfan syndrome nork Boileau, Catherine, Guo, Dong-Chuan, Hanna, Nadine, Regalado, Ellen S., Detaint, Delphine, Gong, Limin, Varret, Mathilde, Prakash, Siddharth, Li, Alexander H., d’Indy, Hyacintha, Braverman, Alan C., Grandchamp, Bernard, Kwartler, Callie S., Gouya, Laurent, Santos-Cortez, Regie Lyn P., Abifadel, Marianne, Leal, Suzanne M., Muti, Christine, Shendure, Jay, Gross, Marie-Sylvie, Rieder, Mark J., Vahanian, Alec, Nickerson, Deborah A., Michel, Jean Baptiste, Jondeau, Guillaume, Milewicz, Dianna M.

Testu osoa Testu osoa Testu osoa

Whole Exome/Genome Sequencing Joint Analysis of a Family with Oligogenic Familial Hypercholesterolemia nork 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

Testu osoa Testu osoa Testu osoa

Pathogenic variants in THSD4, encoding the ADAMTS-like 6 protein, predispose to inherited thoracic aortic aneurysm nork 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, Khalil, Yara Abou, Varret, Mathilde, Khoury, Petra El, Ho-Tin-Noé, Benoit, Alembik, Yves, Gaertner, Sébastien, Isidor, Bertrand, Gouya, Laurent, Milleron, Olivier, Sekiguchi, Kiyotoshi, Milewicz, Dianna, Backer, Julie De, Le Goff, Carine, Michel, Jean-Baptiste, Jondeau, Guillaume, Sakai, Lynn Y., Boileau, Catherine, Abifadel, Marianne

Testu osoa Testu osoa Testu osoa

Exome Sequencing in Suspected Monogenic Dyslipidemias nork Stitziel, Nathan O., Peloso, Gina M., Abifadel, Marianne, Cefalu, Angelo B., Fouchier, Sigrid, Motazacker, M. Mahdi, Tada, Hayato, Larach, Daniel B., Awan, Zuhier, Haller, Jorge F., Pullinger, Clive R., Varret, Mathilde, Rabès, Jean-Pierre, Noto, Davide, Tarugi, Patrizia, Kawashiri, Masa-aki, Nohara, Atsushi, Yamagishi, Masakazu, Risman, Marjorie, Deo, Rahul, Ruel, Isabelle, Shendure, Jay, Nickerson, Deborah A., Wilson, James G., Rich, Stephen S., Gupta, Namrata, Farlow, Deborah N., Neale, Benjamin M., Daly, Mark J., Kane, John P., Freeman, Mason W., Genest, Jacques, Rader, Daniel J., Mabuchi, Hiroshi, Kastelein, John J.P., Hovingh, G. Kees, Averna, Maurizio R., Gabriel, Stacey, Boileau, Catherine, Kathiresan, Sekar

Testu osoa Testu osoa Testu osoa