Search Results - "LLANAS, Brigitte"

Prevalence of Novel MAGED2 Mutations in Antenatal Bartter Syndrome by Legrand, Anne, Treard, Cyrielle, Roncelin, Isabelle, Dreux, Sophie, Bertholet-Thomas, Aurélia, Broux, Françoise, Bruno, Daniele, Decramer, Stéphane, Deschenes, Georges, Djeddi, Djamal, Guigonis, Vincent, Jay, Nadine, Khalifeh, Tackwa, Llanas, Brigitte, Morin, Denis, Morin, Gilles, Nobili, François, Pietrement, Christine, Ryckewaert, Amélie, Salomon, Rémi, Vrillon, Isabelle, Blanchard, Anne, Vargas-Poussou, Rosa

“…Mutations in the gene, located on the X chromosome, have been recently detected in males with a transient form of antenatal Bartter syndrome or with idiopathic…”
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Long-term kidney and liver outcome in 50 children with autosomal recessive polycystic kidney disease by Dorval, Guillaume, Boyer, Olivia, Couderc, Anne, Delbet, Jean-Daniel, Heidet, Laurence, Debray, Dominique, Krug, Pauline, Girard, Muriel, Llanas, Brigitte, Charbit, Marina, Krid, Saoussen, Biebuyck, Nathalie, Fila, Marc, Courivaud, Cécile, Tilley, Frances, Garcelon, Nicolas, Blanc, Thomas, Chardot, Christophe, Salomon, Rémi, Lacaille, Florence

“…Background Autosomal recessive polycystic kidney disease (ARPKD) is a rare ciliopathy characterized by congenital hepatic fibrosis and cystic kidney disease…”
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Rituximab treatment for severe steroid- or cyclosporine-dependent nephrotic syndrome: a multicentric series of 22 cases by Guigonis, Vincent, Dallocchio, Aymeric, Baudouin, Véronique, Dehennault, Maud, Hachon-Le Camus, Caroline, Afanetti, Mickael, Groothoff, Jaap, Llanas, Brigitte, Niaudet, Patrick, Nivet, Hubert, Raynaud, Natacha, Taque, Sophie, Ronco, Pierre, Bouissou, François

“…Several case reports suggest that rituximab (RTX) could be effective in steroid-dependent nephrotic syndrome, but RTX efficacy has not yet been studied in a…”
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Generation of induced pluripotent stem cells-derived hepatocyte-like cells for ex vivo gene therapy of primary hyperoxaluria type 1 by Estève, Julie, Blouin, Jean-Marc, Lalanne, Magalie, Azzi-Martin, Lamia, Dubus, Pierre, Bidet, Audrey, Harambat, Jérôme, Llanas, Brigitte, Moranvillier, Isabelle, Bedel, Aurélie, Moreau-Gaudry, François, Richard, Emmanuel

“…Primary hyperoxaluria type 1 (PH1) is a rare autosomal recessive disorder of the liver metabolism due to functional deficiency of the peroxisomal enzyme…”
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Prediction of steroid-sparing agent use in childhood idiopathic nephrotic syndrome by Harambat, Jérôme, Godron, Astrid, Ernould, Sandrine, Rigothier, Claire, Llanas, Brigitte, Leroy, Sandrine

“…Background About half of children with steroid-sensitive idiopathic nephrotic syndrome (INS) will develop steroid dependency or a frequently relapsing course…”
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Atypical hematologic and renal manifestations in Neurofibromatosis type I: Coincidence or pathophysiological link? by Van-Gils, Julien, Harambat, Jérôme, Jubert, Charlotte, Vidaud, Dominique, Llanas, Brigitte, Perel, Yves, Lacombe, Didier, Goizet, Cyril

“…Abstract Neurofibromatosis type 1 (NF1) is an autosomal dominant, multi-system, neurocutaneous disorder that predisposes to the development of benign and…”
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Long-term outcome of diarrhea-associated hemolytic uremic syndrome is poorly related to markers of kidney injury at 1-year follow-up in a population-based cohort by Monet-Didailler, Catherine, Godron-Dubrasquet, Astrid, Madden, Iona, Delmas, Yahsou, Llanas, Brigitte, Harambat, Jérôme

“…Background Hemolytic uremic syndrome due to Shiga toxin–producing E. coli (STEC-HUS) is the main cause of acute kidney injury in young children. Most fully…”
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Recessive mutations in DGKE cause atypical hemolytic-uremic syndrome by Lemaire, Mathieu, Frémeaux-Bacchi, Véronique, Schaefer, Franz, Choi, Murim, Tang, Wai Ho, Le Quintrec, Moglie, Fakhouri, Fadi, Taque, Sophie, Nobili, François, Martinez, Frank, Ji, Weizhen, Overton, John D, Mane, Shrikant M, Nürnberg, Gudrun, Altmüller, Janine, Thiele, Holger, Morin, Denis, Deschenes, Georges, Baudouin, Véronique, Llanas, Brigitte, Collard, Laure, Majid, Mohammed A, Simkova, Eva, Nürnberg, Peter, Rioux-Leclerc, Nathalie, Moeckel, Gilbert W, Gubler, Marie Claire, Hwa, John, Loirat, Chantal, Lifton, Richard P

“…Richard Lifton, Véronique Frémeaux-Bacchi and colleagues report that recessive mutations in DGKE cause atypical hemolytic-uremic syndrome with an early age of…”
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Outcome of children with Shiga toxin-associated haemolytic uraemic syndrome treated with eculizumab: a matched cohort study by Monet-Didailler, Catherine, Chevallier, Audrey, Godron-Dubrasquet, Astrid, Allard, Lise, Delmas, Yahsou, Contin-Bordes, Cécile, Brissaud, Olivier, Llanas, Brigitte, Harambat, Jérôme

“…Abstract Background Treatment with eculizumab in Shiga toxin–associated haemolytic and uraemic syndrome (STEC-HUS) remains controversial despite its increasing…”
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Clinical and Genetic Spectrum of Bartter Syndrome Type 3 by Seys, Elsa, Andrini, Olga, Keck, Mathilde, Mansour-Hendili, Lamisse, Courand, Pierre-Yves, Simian, Christophe, Deschenes, Georges, Kwon, Theresa, Bertholet-Thomas, Aurélia, Bobrie, Guillaume, Borde, Jean Sébastien, Bourdat-Michel, Guylhène, Decramer, Stéphane, Cailliez, Mathilde, Krug, Pauline, Cozette, Paul, Delbet, Jean Daniel, Dubourg, Laurence, Chaveau, Dominique, Fila, Marc, Jourde-Chiche, Noémie, Knebelmann, Bertrand, Lavocat, Marie-Pierre, Lemoine, Sandrine, Djeddi, Djamal, Llanas, Brigitte, Louillet, Ferielle, Merieau, Elodie, Mileva, Maria, Mota-Vieira, Luisa, Mousson, Christiane, Nobili, François, Novo, Robert, Roussey-Kesler, Gwenaëlle, Vrillon, Isabelle, Walsh, Stephen B, Teulon, Jacques, Blanchard, Anne, Vargas-Poussou, Rosa

“…Bartter syndrome type 3 is a clinically heterogeneous hereditary salt-losing tubulopathy caused by mutations of the chloride voltage-gated channel Kb gene ( ),…”
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Complement Gene Variants and Shiga Toxin-Producing Escherichia coli -Associated Hemolytic Uremic Syndrome: Retrospective Genetic and Clinical Study by Frémeaux-Bacchi, Véronique, Sellier-Leclerc, Anne-Laure, Vieira-Martins, Paula, Limou, Sophie, Kwon, Theresa, Lahoche, Annie, Novo, Robert, Llanas, Brigitte, Nobili, François, Roussey, Gwenaëlle, Cailliez, Mathilde, Ulinski, Tim, Deschênes, Georges, Alberti, Corinne, Weill, François-Xavier, Mariani, Patricia, Loirat, Chantal

“…Inherited complement hyperactivation is critical for the pathogenesis of atypical hemolytic uremic syndrome (HUS) but undetermined in postdiarrheal HUS. Our…”
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Targeted gene therapy in human-induced pluripotent stem cells from a patient with primary hyperoxaluria type 1 using CRISPR/Cas9 technology by Estève, Julie, Blouin, Jean-Marc, Lalanne, Magalie, Azzi-Martin, Lamia, Dubus, Pierre, Bidet, Audrey, Harambat, Jérôme, Llanas, Brigitte, Moranvillier, Isabelle, Bedel, Aurélie, Moreau-Gaudry, François, Richard, Emmanuel

“…Primary hyperoxaluria type 1 (PH1) is an inherited metabolic disorder caused by a deficiency of the peroxisomal enzyme alanine-glyoxylate aminotransferase…”
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Mycophenolic Acid Pharmacokinetics and Relapse in Children with Steroid-Dependent Idiopathic Nephrotic Syndrome by Tellier, Stéphanie, Dallocchio, Aymeric, Guigonis, Vincent, Saint-Marcoux, Frank, Llanas, Brigitte, Ichay, Lydia, Bandin, Flavio, Godron, Astrid, Morin, Denis, Brochard, Karine, Gandia, Peggy, Bouchet, Stéphane, Marquet, Pierre, Decramer, Stéphane, Harambat, Jérôme

“…Therapeutic drug monitoring of mycophenolic acid can improve clinical outcome in organ transplantation and lupus, but data are scarce in idiopathic nephrotic…”
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Eculizumab treatment in severe pediatric STEC-HUS: a multicenter retrospective study by Percheron, Lucas, Gramada, Raluca, Tellier, Stéphanie, Salomon, Remi, Harambat, Jérôme, Llanas, Brigitte, Fila, Marc, Allain-Launay, Emma, Lapeyraque, Anne-Laure, Leroy, Valerie, Adra, Anne-Laure, Bérard, Etienne, Bourdat-Michel, Guylhène, Chehade, Hassid, Eckart, Philippe, Merieau, Elodie, Piètrement, Christine, Sellier-Leclerc, Anne-Laure, Frémeaux-Bacchi, Véronique, Dimeglio, Chloe, Garnier, Arnaud

“…Background Hemolytic uremic syndrome related to Shiga-toxin-secreting Escherichia coli infection (STEC-HUS) remains a common cause of acute kidney injury in…”
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Kidney injury in children and adolescents with leptospirosis in France by De Thomasis, Sarah, Flodrops, Hugues, Llanas, Brigitte, Martinez Casado, Édouard, Cloarec, Sylvie, Pietrement, Christine, Zaloszyc, Ariane

“…Leptospirosis is an anthropozoonosis with polymorphic clinical symptoms and a high variability of severity, ranging from flu-like syndrome to severe acute…”
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Outbreak of Escherichia coli O104:H4 haemolytic uraemic syndrome in France: outcome with eculizumab by Delmas, Yahsou, Vendrely, Benoît, Clouzeau, Benjamin, Bachir, Hiba, Bui, Hoang-Nam, Lacraz, Adeline, Hélou, Sébastien, Bordes, Cécile, Reffet, Armel, Llanas, Brigitte, Skopinski, Sophie, Rolland, Patrick, Gruson, Didier, Combe, Christian

“…An outbreak of haemolytic uraemic syndrome (HUS) due to Shiga toxin-secreting Escherichia coli (STEC) O104:H4 from contaminated fenugreek sprouts occurred in…”
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Renal outcome in long-term survivors from severe acute kidney injury in childhood by Viaud, Marianne, Llanas, Brigitte, Harambat, Jérôme

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Paediatric haemolytic uraemic syndrome related to Shiga toxin-producing Escherichia coli , an overview of 10 years of surveillance in France, 2007 to 2016 by Bruyand, Mathias, Mariani-Kurkdjian, Patricia, Le Hello, Simon, King, Lisa-A, Van Cauteren, Dieter, Lefevre, Sophie, Gouali, Malika, Jourdan-da Silva, Nathalie, Mailles, Alexandra, Donguy, Marie-Pierre, Loukiadis, Estelle, Sergentet-Thevenot, Delphine, Loirat, Chantal, Bonacorsi, Stéphane, Weill, François-Xavier, De Valk, Henriette

“…IntroductionHaemolytic uraemic syndrome (HUS) related to Shiga toxin-producing (STEC) is the leading cause of acute renal failure in young children. In France,…”
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Towards a new point of view on the phenotype of patients with a 17q12 microdeletion syndrome by Laffargue, Fanny, Bourthoumieu, Sylvie, Llanas, Brigitte, Baudouin, Véronique, Lahoche, Annie, Morin, Denis, Bessenay, Lucie, De Parscau, Loïc, Cloarec, Sylvie, Delrue, Marie-Ange, Taupiac, Emmanuelle, Dizier, Emilie, Laroche, Cécile, Bahans, Claire, Yardin, Catherine, Lacombe, Didier, Guigonis, Vincent

“…Objective 17q12 microdeletion syndrome involves 15 genes, including HNF1B, and is considered to confer a high risk of neuropsychiatric disorders. Patients with…”
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Donor‐targeted serotherapy as a rescue therapy for steroid‐resistant acute GVHD after HLA‐mismatched kidney transplantation by Zuber, Julien, Boyer, Olivia, Neven, Bénédicte, Jollet, Isabelle, Renac, Virginie, Berthaud, Romain, Levy, Romain, Lamarthée, Baptiste, Visentin, Jonathan, Marchal, Armance, Gouge‐Biebuyck, Nathalie, Godron‐Dubrasquet, Astrid, Aladjidi, Nathalie, Rabah, Melissa O., Winter, Sarah, Léon, Juliette, Dussiot, Michael, Rabant, Marion, Krid, Saoussen, Krug, Pauline, Charbit, Marina, Lacaille, Florence, André, Isabelle, Cavazzana, Marina, Llanas, Brigitte, Allard, Lise, Pirenne, France, Gross, Sylvie, Djoudi, Rachid, Tiberghien, Pierre, Taupin, Jean‐Luc, Blanche, Stéphane, Salomon, Rémi

“…Acute graft‐versus‐host disease (GVHD) is a rare but frequently lethal complication after solid organ transplantation. GVHD occurs in unduly immunocompromised…”
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