Clinical Utility Gene Card for: Congenital Generalized Lipodystrophy

Por Jéru, Isabelle, Vatier, Camille, Araujo-Vilar, David, Vigouroux, Corinne, Lascols, Olivier
Publicado no Eur J Hum Genet (2016)

Clinical Utility Gene Card for: Familial partial lipodystrophy

Por Jéru, Isabelle, Vatier, Camille, Araujo-Vilar, David, Vigouroux, Corinne, Lascols, Olivier
Publicado no Eur J Hum Genet (2017)

Hypoglycaemia revealing heterozygous insulin receptor mutations

Por Preumont, Vanessa, Feincoeur, Christine, Lascols, Olivier, Courtillot, Carine, Touraine, Philippe, Maiter, Dominique, Vigouroux, Corinne
Publicado no Diabetes Metab (2016)

Intrauterine Growth Restriction and Hypertrophic Cardiomyopathy as Prenatal Ultrasound Findings in a Case of Leprechaunism

Por Perge, Kevin, Massoud, Mona, Gauthier-Moulinier, Hélène, Lascols, Olivier, Pangaud, Nicolas, Villanueva, Carine, Pons, Linda
Publicado no Mol Syndromol (2020)

Human lipodystrophies: genetic and acquired diseases of adipose tissue

Por Capeau, Jacqueline, Magré, Jocelyne, Caron-Debarle, Martine, Lagathu, Claire, Antoine, Bénédicte, Béréziat, Véronique, Lascols, Olivier, Bastard, Jean-Philippe, Vigouroux, Corinne
Publicado em 2010

Adherence with metreleptin therapy and health self-perception in patients with lipodystrophic syndromes

Por Vatier, Camille, Kalbasi, Dina, Vantyghem, Marie-Christine, Lascols, Olivier, Jéru, Isabelle, Daguenel, Anne, Gautier, Jean-François, Buyse, Marion, Vigouroux, Corinne
Publicado no Orphanet J Rare Dis (2019)

SUN-037 Diagnosis Challenge in Type 4 Familial Partial Lipodystrophic Syndrome

Por Vantyghem, Marie-Christine, Jeru, Isabelle, Bismuth, Elise, Meggison, Hilary, Auclair, Martine, Vatier, Camille, Delemer, Brigitte, Lascols, Olivier, Savage, David, Vigouroux, Corinne
Publicado no J Endocr Soc (2019)

Diagnostic Challenge in PLIN1-Associated Familial Partial Lipodystrophy

Por Jéru, Isabelle, Vantyghem, Marie-Christine, Bismuth, Elise, Cervera, Pascale, Barraud, Sara, Auclair, Martine, Vatier, Camille, Lascols, Olivier, Savage, David B, Vigouroux, Corinne
Publicado no J Clin Endocrinol Metab (2019)

Congenital Generalized Lipoatrophy (Berardinelli-Seip Syndrome) Type 1: Description of Novel AGPAT2 Homozygous Variants Showing the Highly Heterogeneous Presentation of the Disease

Por Ceccarini, Giovanni, Magno, Silvia, Pelosini, Caterina, Ferrari, Federica, Sessa, Maria Rita, Scabia, Gaia, Maffei, Margherita, Jéru, Isabelle, Lascols, Olivier, Vigouroux, Corinne, Santini, Ferruccio
Publicado no Front Endocrinol (Lausanne) (2020)

Lipodystrophic syndromes due to LMNA mutations: recent developments on biomolecular aspects, pathophysiological hypotheses and therapeutic perspectives

Por Vigouroux, Corinne, Guénantin, Anne-Claire, Vatier, Camille, Capel, Emilie, Le Dour, Caroline, Afonso, Pauline, Bidault, Guillaume, Béréziat, Véronique, Lascols, Olivier, Capeau, Jacqueline, Briand, Nolwenn, Jéru, Isabelle
Publicado no Nucleus (2018)

Diagnostic challenges in a child with early onset desmoplastic medulloblastoma and homozygous variants in MSH2 and MSH6

Por Taeubner, Julia, Wimmer, Katharina, Muleris, Martine, Lascols, Olivier, Colas, Chrystelle, Fauth, Christine, Brozou, Triantafyllia, Felsberg, Joerg, Riemer, Jasmin, Gombert, Michael, Ginzel, Sebastian, Hoell, Jessica I., Borkhardt, Arndt, Kuhlen, Michaela
Publicado no Eur J Hum Genet (2018)

Dubin–Johnson syndrome and intrahepatic cholestasis of pregnancy in a Sri Lankan family: a case report

Por Kularatnam, Grace Angeline Malarnangai, Dilanthi, Hewa Warawitage, Vidanapathirana, Dinesha Maduri, Jayasena, Subashini, Jasinge, Eresha, Silva, Ginige Nalika Nirmalenede, Liyanarachchi, Kirinda Liyana Arachchige Manoj Sanjeeva, Wickramasinghe, Pujitha, Devgun, Manjit Singh, Barbu, Veronique, Lascols, Olivier
Publicado no BMC Res Notes (2017)

Correction to: Dubin–Johnson syndrome and intrahepatic cholestasis of pregnancy in a Sri Lankan family: a case report

Por Kularatnam, Grace Angeline Malarnangai, Warawitage, Hewa Dilanthi, Vidanapathirana, Dinesha Maduri, Jayasena, Subashini, Jasinge, Eresha, de Silva, Ginige Nalika Nirmalene, Liyanarachchi, Kirinda Liyana Arachchige Manoj Sanjeeva, Wickramasinghe, Pujitha, Devgun, Manjit Singh, Barbu, Veronique, Lascols, Olivier
Publicado no BMC Res Notes (2017)

Perilipin Deficiency and Autosomal Dominant Partial Lipodystrophy

Por Gandotra, Sheetal, Le Dour, Caroline, Bottomley, William, Cervera, Pascale, Giral, Philippe, Reznik, Yves, Charpentier, Guillaume, Auclair, Martine, Delépine, Marc, Barroso, Inês, Semple, Robert K., Lathrop, Mark, Lascols, Olivier, Capeau, Jacqueline, O’Rahilly, Stephen, Magré, Jocelyne, Savage, David B., Vigouroux, Corinne
Publicado em 2011

Looking at New Unexpected Disease Targets in LMNA-Linked Lipodystrophies in the Light of Complex Cardiovascular Phenotypes: Implications for Clinical Practice

Por Mosbah, Héléna, Vatier, Camille, Boccara, Franck, Jéru, Isabelle, Lascols, Olivier, Vantyghem, Marie-Christine, Fève, Bruno, Donadille, Bruno, Sarrazin, Elisabeth, Benabbou, Sophie, Inamo, Jocelyn, Ederhy, Stéphane, Cohen, Ariel, Neraud, Barbara, Richard, Pascale, Picard, Fabien, Christin-Maitre, Sophie, Redheuil, Alban, Wahbi, Karim, Vigouroux, Corinne
Publicado no Cells (2020)

Global molecular analysis and APOE mutations in a cohort of autosomal dominant hypercholesterolemia patients in France

Por Wintjens, René, Bozon, Dominique, Belabbas, Khaldia, MBou, Félicien, Girardet, Jean-Philippe, Tounian, Patrick, Jolly, Mathilde, Boccara, Franck, Cohen, Ariel, Karsenty, Alexandra, Dubern, Béatrice, Carel, Jean-Claude, Azar-Kolakez, Ahlam, Feillet, François, Labarthe, François, Gorsky, Anne-Marie Colin, Horovitz, Alice, Tamarindi, Catherine, Kieffer, Pierre, Lienhardt, Anne, Lascols, Olivier, Di Filippo, Mathilde, Dufernez, Fabienne
Publicado no J Lipid Res (2016)

PIK3R1 Mutations Cause Syndromic Insulin Resistance with Lipoatrophy

Por Thauvin-Robinet, Christel, Auclair, Martine, Duplomb, Laurence, Caron-Debarle, Martine, Avila, Magali, St-Onge, Judith, Le Merrer, Martine, Le Luyer, Bernard, Héron, Delphine, Mathieu-Dramard, Michèle, Bitoun, Pierre, Petit, Jean-Michel, Odent, Sylvie, Amiel, Jeanne, Picot, Damien, Carmignac, Virginie, Thevenon, Julien, Callier, Patrick, Laville, Martine, Reznik, Yves, Fagour, Cédric, Nunes, Marie-Laure, Capeau, Jacqueline, Lascols, Olivier, Huet, Frédéric, Faivre, Laurence, Vigouroux, Corinne, Rivière, Jean-Baptiste
Publicado em 2013