What is the risk that I will transmit nephrotic syndrome to my children, Doctor?

Por Benoit, Geneviève, Morinière, Vincent, Charbit, Marina, Niaudet, Patrick, Antignac, Corinne
Publicado no NDT Plus (2010)

Maternal uniparental heterodisomy of chromosome 17 in a patient with nephropathic cystinosis

Por Lebre, Anne-Sophie, Morinière, Vincent, Dunand, Olivier, Bensman, Albert, Morichon-Delvallez, Nicole, Antignac, Corinne
Publicado em 2009

Late-Onset Nephropathic Cystinosis: Clinical Presentation, Outcome, and Genotyping

Por Servais, Aude, Morinière, Vincent, Grünfeld, Jean-Pierre, Noël, Laure-Hélène, Goujon, Jean-Michel, Chadefaux-Vekemans, Bernadette, Antignac, Corinne
Publicado em 2008

Absence of cell surface expression of human ACE leads to perinatal death

Por Michaud, Annie, Acharya, K. Ravi, Masuyer, Geoffrey, Quenech'du, Nicole, Gribouval, Olivier, Morinière, Vincent, Gubler, Marie-Claire, Corvol, Pierre
Publicado em 2014

Phenotype and Outcome in Hereditary Tubulointerstitial Nephritis Secondary to UMOD Mutations

Por Bollée, Guillaume, Dahan, Karin, Flamant, Martin, Morinière, Vincent, Pawtowski, Audrey, Heidet, Laurence, Lacombe, Didier, Devuyst, Olivier, Pirson, Yves, Antignac, Corinne, Knebelmann, Bertrand
Publicado em 2011

Spectrum of HNF1B Mutations in a Large Cohort of Patients Who Harbor Renal Diseases

Por Heidet, Laurence, Decramer, Stéphane, Pawtowski, Audrey, Morinière, Vincent, Bandin, Flavio, Knebelmann, Bertrand, Lebre, Anne-Sophie, Faguer, Stanislas, Guigonis, Vincent, Antignac, Corinne, Salomon, Rémi
Publicado em 2010

Uromodulin mutations causing familial juvenile hyperuricaemic nephropathy lead to protein maturation defects and retention in the endoplasmic reticulum

Por Williams, Siân E., Reed, Anita A.C., Galvanovskis, Juris, Antignac, Corinne, Goodship, Tim, Karet, Fiona E., Kotanko, Peter, Lhotta, Karl, Morinière, Vincent, Williams, Paul, Wong, William, Rorsman, Patrik, Thakker, Rajesh V.
Publicado em 2009

Improving Mutation Screening in Familial Hematuric Nephropathies through Next Generation Sequencing

Por Morinière, Vincent, Dahan, Karin, Hilbert, Pascale, Lison, Marieline, Lebbah, Said, Topa, Alexandra, Bole-Feysot, Christine, Pruvost, Solenn, Nitschke, Patrick, Plaisier, Emmanuelle, Knebelmann, Bertrand, Macher, Marie-Alice, Noel, Laure-Hélène, Gubler, Marie-Claire, Antignac, Corinne, Heidet, Laurence
Publicado no J Am Soc Nephrol (2014)

Severe Prenatal Renal Anomalies Associated with Mutations in HNF1B or PAX2 Genes

Por Madariaga, Leire, Morinière, Vincent, Jeanpierre, Cécile, Bouvier, Raymonde, Loget, Philippe, Martinovic, Jelena, Dechelotte, Pierre, Leporrier, Nathalie, Thauvin-Robinet, Christel, Jensen, Uffe Birk, Gaillard, Dominique, Mathieu, Michele, Turlin, Bruno, Attie-Bitach, Tania, Salomon, Rémi, Gübler, Marie-Claire, Antignac, Corinne, Heidet, Laurence
Publicado em 2013

Targeted Exome Sequencing Identifies PBX1 as Involved in Monogenic Congenital Anomalies of the Kidney and Urinary Tract

Por Heidet, Laurence, Morinière, Vincent, Henry, Charline, De Tomasi, Lara, Reilly, Madeline Louise, Humbert, Camille, Alibeu, Olivier, Fourrage, Cécile, Bole-Feysot, Christine, Nitschké, Patrick, Tores, Frédéric, Bras, Marc, Jeanpierre, Marc, Pietrement, Christine, Gaillard, Dominique, Gonzales, Marie, Novo, Robert, Schaefer, Elise, Roume, Joëlle, Martinovic, Jelena, Malan, Valérie, Salomon, Rémi, Saunier, Sophie, Antignac, Corinne, Jeanpierre, Cécile
Publicado no J Am Soc Nephrol (2017)

Comprehensive PKD1 and PKD2 Mutation Analysis in Prenatal Autosomal Dominant Polycystic Kidney Disease

Por 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
Publicado no J Am Soc Nephrol (2016)

School level of children carrying a HNF1B variant or a deletion

Por Laliève, Fanny, Decramer, Stéphane, Heidet, Laurence, Baudouin, Véronique, Lahoche, Annie, Llanas, Brigitte, Cochat, Pierre, Tenenbaum, Julie, Lavocat, Marie-Pierre, Eckart, Philippe, Broux, Françoise, Roussey, Gwenaelle, Cloarec, Sylvie, Vrillon, Isabelle, Dunand, Olivier, Bessenay, Lucie, Tsimaratos, Michel, Nobili, François, Pietrement, Christine, De Parscau, Loïc, Bonneville, Valérie, Rodier, Nicolas, Saint-Martin, Cécile, Chassaing, Nicolas, Michel-Calemard, Laurence, Moriniere, Vincent, Bellanné-Chantelot, Christine, Bahans, Claire, Guigonis, Vincent
Publicado no Eur J Hum Genet (2019)

Human C-terminal CUBN variants associate with chronic proteinuria and normal renal function

Por Bedin, Mathilda, Boyer, Olivia, Servais, Aude, Li, Yong, Villoing-Gaudé, Laure, Tête, Marie-Josephe, Cambier, Alexandra, Hogan, Julien, Baudouin, Veronique, Krid, Saoussen, Bensman, Albert, Lammens, Florie, Louillet, Ferielle, Ranchin, Bruno, Vigneau, Cecile, Bouteau, Iseline, Isnard-Bagnis, Corinne, Mache, Christoph J., Schäfer, Tobias, Pape, Lars, Gödel, Markus, Huber, Tobias B., Benz, Marcus, Klaus, Günter, Hansen, Matthias, Latta, Kay, Gribouval, Olivier, Morinière, Vincent, Tournant, Carole, Grohmann, Maik, Kuhn, Elisa, Wagner, Timo, Bole-Feysot, Christine, Jabot-Hanin, Fabienne, Nitschké, Patrick, Ahluwalia, Tarunveer S., Köttgen, Anna, Andersen, Christian Brix Folsted, Bergmann, Carsten, Antignac, Corinne, Simons, Matias
Publicado no J Clin Invest (2019)