Autosomal dominant polycystic kidney disease: Comprehensive mutation analysis of PKD1 and PKD2 in 700 unrelated patients
Audrézet, Marie-Pierre, Cornec-Le Gall, Emilie, Chen, Jian-Min, Redon, Sylvia, Quéré, Isabelle, Creff, Joelle, Bénech, Caroline, Maestri, Sandrine, Le Meur, Yann, Férec, Claude
Published in Human mutation (01.08.2012)
Published in Human mutation (01.08.2012)
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Comprehensive PKD1 and PKD2 Mutation Analysis in Prenatal Autosomal Dominant Polycystic Kidney Disease
Audrézet, Marie-Pierre, Corbiere, Christine, Lebbah, Said, Morinière, Vincent, Broux, Françoise, Louillet, Ferielle, Fischbach, Michel, Zaloszyc, Ariane, Cloarec, Sylvie, Merieau, Elodie, Baudouin, Véronique, Deschênes, Georges, Roussey, Gwenaelle, Maestri, Sandrine, Visconti, Chiara, Boyer, Olivia, Abel, Carine, Lahoche, Annie, Randrianaivo, Hanitra, Bessenay, Lucie, Mekahli, Djalila, Ouertani, Ines, Decramer, Stéphane, Ryckenwaert, Amélie, Cornec-Le Gall, Emilie, Salomon, Rémi, Ferec, Claude, Heidet, Laurence
Published in Journal of the American Society of Nephrology (01.03.2016)
Published in Journal of the American Society of Nephrology (01.03.2016)
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The dual loss and gain of function of the FPN1 iron exporter results in the ferroportin disease phenotype
Uguen, Kevin, Le Tertre, Marlène, Tchernitchko, Dimitri, Elbahnsi, Ahmad, Maestri, Sandrine, Gourlaouen, Isabelle, Férec, Claude, Ka, Chandran, Callebaut, Isabelle, Le Gac, Gérald
Published in HGG advances (10.10.2024)
Published in HGG advances (10.10.2024)
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Alu insertion-mediated dsRNA structure formation with pre-existing Alu elements as a disease-causing mechanism
Masson, Emmanuelle, Maestri, Sandrine, Bordeau, Valérie, Cooper, David N., Férec, Claude, Chen, Jian-Min
Published in American journal of human genetics (04.09.2024)
Published in American journal of human genetics (04.09.2024)
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PKD2 -Related Autosomal Dominant Polycystic Kidney Disease: Prevalence, Clinical Presentation, Mutation Spectrum, and Prognosis
Cornec-Le Gall, Emilie, MD, PhD, Audrézet, Marie-Pierre, PhD, Renaudineau, Eric, MD, Hourmant, Maryvonne, MD, PhD, Charasse, Christophe, MD, Michez, Eric, MD, Frouget, Thierry, MD, Vigneau, Cécile, MD, PhD, Dantal, Jacques, MD, PhD, Siohan, Pascale, MD, Longuet, Hélène, MD, Gatault, Philippe, MD, PhD, Ecotière, Laure, MD, Bridoux, Frank, MD, PhD, Mandart, Lise, MD, Hanrotel-Saliou, Catherine, MD, Stanescu, Corina, MD, Depraetre, Pascale, MD, Gie, Sophie, MD, Massad, Michiel, MD, Kersalé, Aude, MD, Séret, Guillaume, MD, Augusto, Jean-François, MD, PhD, Saliou, Philippe, MD, PhD, Maestri, Sandrine, MSc, Chen, Jian-Min, PhD, Harris, Peter C., PhD, Férec, Claude, MD, PhD, Le Meur, Yannick, MD, PhD
Published in American journal of kidney diseases (01.10.2017)
Published in American journal of kidney diseases (01.10.2017)
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