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	21.	Postprandial lipid absorption in seven heterozygous carriers of deleterious variants of MTTP in two abetalipoproteinemic families. [electronic resource] by Di Filippo, Mathilde Varret, Mathilde Boehm, Vanessa Rabès, Jean-Pierre Ferkdadji, Latifa Abramowitz, Laurent Dumont, Sabrina Lenaerts, Catherine Boileau, Catherine Joly, Francisca Schmitz, Jacques Samson-Bouma, Marie-Elisabeth Bonnefont-Rousselot, Dominique Producer: 20200505 In: Journal of clinical lipidology vol. 13 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	22.	Novel mutations of the PCSK9 gene cause variable phenotype of autosomal dominant hypercholesterolemia. [electronic resource] by Allard, Delphine Amsellem, Sabine Abifadel, Marianne Trillard, Mélanie Devillers, Martine Luc, Gérald Krempf, Michel Reznik, Yves Girardet, Jean-Philippe Fredenrich, Alexandre Junien, Claudine Varret, Mathilde Boileau, Catherine Benlian, Pascale Rabès, Jean-Pierre Producer: 20060613 In: Human mutation vol. 26 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	23.	Familial hypercholesterolemia in Morocco: first report of mutations in the LDL receptor gene. [electronic resource] by El Messal, Mariame Aït Chihab, Karima Chater, Rachid Vallvé, Joan Carles Bennis, Faïza Hafidi, Aïcha Ribalta, Josep Varret, Mathilde Loutfi, Mohammed Rabès, Jean Pierre Kettani, Anass Boileau, Catherine Masana, Luis Adlouni, Ahmed Producer: 20031120 In: Journal of human genetics vol. 48 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	24.	Effect of mutations in LDLR and PCSK9 genes on phenotypic variability in Tunisian familial hypercholesterolemia patients. [electronic resource] by Slimani, Afef Jelassi, Awatef Jguirim, Imen Najah, Mohamed Rebhi, Lamia Omezzine, Asma Maatouk, Faouzi Hamda, Khaldoun Ben Kacem, Maha Rabès, Jean-Pierre Abifadel, Marianne Boileau, Catherine Rouis, Mustapha Slimane, Mohamed Naceur Varret, Mathilde Producer: 20120816 In: Atherosclerosis vol. 222 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	25.	Molecular analysis and intestinal expression of SAR1 genes and proteins in Anderson's disease (Chylomicron retention disease). [electronic resource] by 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 Producer: 20110509 In: Orphanet journal of rare diseases vol. 6 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	26.	Usefulness of the genetic risk score to identify phenocopies in families with familial hypercholesterolemia? [electronic resource] by 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 Producer: 20181226 In: European journal of human genetics : EJHG vol. 26 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	27.	New Sequencing technologies help revealing unexpected mutations in Autosomal Dominant Hypercholesterolemia. [electronic resource] by 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 Producer: 20181217 In: Scientific reports vol. 8 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	28.	A fourth locus for autosomal dominant hypercholesterolemia maps at 16q22.1. [electronic resource] by 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 Producer: 20110302 In: European journal of human genetics : EJHG vol. 18 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	29.	Identification of the first Tangier disease patient in Lebanon carrying a new pathogenic variant in ABCA1. [electronic resource] 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 Producer: 20191021 In: Journal of clinical lipidology vol. 12 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	30.	Identification and characterization of new gain-of-function mutations in the PCSK9 gene responsible for autosomal dominant hypercholesterolemia. [electronic resource] by 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 Producer: 20130103 In: Atherosclerosis vol. 223 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	31.	NARC-1/PCSK9 and its natural mutants: zymogen cleavage and effects on the low density lipoprotein (LDL) receptor and LDL cholesterol. [electronic resource] by Benjannet, Suzanne Rhainds, David Essalmani, Rachid Mayne, Janice Wickham, Louise Jin, Weijun Asselin, Marie-Claude Hamelin, Josée Varret, Mathilde Allard, Delphine Trillard, Mélanie Abifadel, Marianne Tebon, Angie Attie, Alan D Rader, Daniel J Boileau, Catherine Brissette, Louise Chrétien, Michel Prat, Annik Seidah, Nabil G Producer: 20050111 In: The Journal of biological chemistry vol. 279 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	32.	Plasma proprotein-convertase-subtilisin/kexin type 9 (PCSK9) and cardiovascular events in type 2 diabetes. [electronic resource] 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 Producer: 20190111 In: Diabetes, obesity & metabolism vol. 20 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	33.	Heterozygous TGFBR2 mutations in Marfan syndrome. [electronic resource] by 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 Producer: 20040913 In: Nature genetics vol. 36 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	34.	Description of a large family with autosomal dominant hypercholesterolemia associated with the APOE p.Leu167del mutation. [electronic resource] by 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 Producer: 20130701 In: Human mutation vol. 34 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	35.	MFAP5 loss-of-function mutations underscore the involvement of matrix alteration in the pathogenesis of familial thoracic aortic aneurysms and dissections. [electronic resource] by 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 Producer: 20150227 In: American journal of human genetics vol. 95 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	36.	Mutations in PCSK9 cause autosomal dominant hypercholesterolemia. [electronic resource] by Abifadel, Marianne Varret, Mathilde Rabès, Jean-Pierre Allard, Delphine Ouguerram, Khadija Devillers, Martine Cruaud, Corinne Benjannet, Suzanne Wickham, Louise Erlich, Danièle Derré, Aurélie Villéger, Ludovic Farnier, Michel Beucler, Isabel Bruckert, Eric Chambaz, Jean Chanu, Bernard Lecerf, Jean-Michel Luc, Gerald Moulin, Philippe Weissenbach, Jean Prat, Annick Krempf, Michel Junien, Claudine Seidah, Nabil G Boileau, Catherine Producer: 20030703 In: Nature genetics vol. 34 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	37.	TGFB2 mutations cause familial thoracic aortic aneurysms and dissections associated with mild systemic features of Marfan syndrome. [electronic resource] by Boileau, Catherine Guo, Dong-Chuan Hanna, Nadine Regalado, Ellen S Detaint, Delphine Gong, Limin Varret, Mathilde Prakash, Siddharth K 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 Producer: 20121009 In: Nature genetics vol. 44 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	38.	Prostaglandin transporter mutations cause pachydermoperiostosis with myelofibrosis. [electronic resource] by Diggle, Christine P Parry, David A Logan, Clare V Laissue, Paul Rivera, Carolina Restrepo, Carlos Martín Fonseca, Dora J Morgan, Joanne E Allanore, Yannick Fontenay, Michaela Wipff, Julien Varret, Mathilde Gibault, Laure Dalantaeva, Nadezhda Korbonits, Márta Zhou, Bowen Yuan, Gang Harifi, Ghita Cefle, Kivanc Palanduz, Sukru Akoglu, Hadim Zwijnenburg, Petra J Lichtenbelt, Klaske D Aubry-Rozier, Bérengère Superti-Furga, Andrea Dallapiccola, Bruno Accadia, Maria Brancati, Francesco Sheridan, Eamonn G Taylor, Graham R Carr, Ian M Johnson, Colin A Markham, Alexander F Bonthron, David T Producer: 20121128 In: Human mutation vol. 33 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	39.	Exome sequencing in suspected monogenic dyslipidemias. [electronic resource] by 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 Producer: 20160125 In: Circulation. Cardiovascular genetics vol. 8 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)