Search Results - Christine Piétrement
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Relapsing encephalopathy with cerebellar ataxia are caused by variants involving p.Arg756 in ATP1A3 by Pascal Sabouraud, Audrey Riquet, Marie‐Aude Spitz, Kumaran Deiva, Soňa Nevšímalová, Cyril Mignot, Gaëtan Lesca, Nathalie Bednarek, Diane Doummar, Christine Piétrement, Vincent Laugel
Published 2019Artigo -
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Hypertension in Children and Adolescents: A Position Statement From a Panel of Multidisciplinary Experts Coordinated by the French Society of Hypertension by Béatrice Bouhanick, P. Sosner, Karine Brochard, Claire Mounier‐Véhier, Geneviève Plu‐Bureau, Sébastien Hascoët, Bruno Ranchin, Christine Piétrement, Lætitia Martinerie, Jean Marc Boivin, J. P. Fauvel, Justine Bacchetta
Published 2021Artigo -
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Role of NHERF1, Cystic Fibrosis Transmembrane Conductance Regulator, and cAMP in the Regulation of Aquaporin 9 by Christine Piétrement, Nicolas Da Silva, Claudia Silberstein, Marianne F. James, Mireille Marsolais, Alfred N. Van Hoek, Dennis Brown, Núria M. Pastor‐Soler, Nadia A. Ameen, Raynald Laprade, Vijaya Ramesh, Sylvie Breton
Published 2007Artigo -
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Acute Neurological Involvement in Diarrhea-Associated Hemolytic Uremic Syndrome by Sylvie Nathanson, Thérèsa Kwon, Monique Elmaleh, Marina Charbit, Emma Allain Launay, Jérôme Harambat, Muriel Brun, Bruno Ranchin, Isabel Bandı́n, Sylvie Cloarec, Guylhène Bourdat-Michel, Christine Piétrement, Gérard Champion, Tim Ulinski, Georges Deschênes
Published 2010Artigo -
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C5 nephritic factors drive the biological phenotype of C3 glomerulopathies by Maria-Chiara Marinozzi, Sophie Chauvet, Moglie Le Quintrec, Morgane Mignotet, Florent Petitprez, Christophe Legendre, Mathilde Cailliez, Georges Deschênes, Michel Fischbach, Alexandre Karras, François Nobili, Christine Piétrement, Marie‐Agnès Dragon‐Durey, Fádi Fakhouri, Lubka T. Roumenina, Véronique Frémeaux‐Bacchi
Published 2017Artigo -
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Prevalence of Novel MAGED2 Mutations in Antenatal Bartter Syndrome by Anne Debost‐Legrand, Cyrielle Tréard, Isabelle Roncelin, Sophie Dreux, Aurélia Bertholet‐Thomas, Françoise Broux, Bruno Daniele, Stéphane Decramer, Georges Deschênes, D. Djeddi, Vincent Guigonis, Nadine Jay, Tackwa Khalifeh, Brigitte Llanas, Denis Morin, G Morin, François Nobili, Christine Piétrement, Amélie Ryckewaert, Rémi Salomon, Isabelle Vrillon, Anne Blanchard, Rosa Vargas‐Poussou
Published 2017Artigo -
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Clinical characteristics and outcomes of childhood-onset ANCA-associated vasculitis: a French nationwide study by Anne‐Sylvia Sacri, T. Chambaraud, Bruno Ranchin, Benoît Florkin, H. See, Stéphane Decramer, Hugues Flodrops, Tim Ulinski, Emma Allain‐Launay, Olivia Boyer, Olivier Dunand, Michel Fischbach, É. Hachulla, Christine Piétrement, P. Le Pogamp, JL Stéphan, Alexandre Bélot, Hubert Nivet, François Nobili, Loı̈c Guillevin, Pierre Quartier, Georges Deschênes, Rémi Salomon, Marie Essig, J. Harambat
Published 2015Artigo -
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Targeted Exome Sequencing Identifies PBX1 as Involved in Monogenic Congenital Anomalies of the Kidney and Urinary Tract by Laurence Heidet, Vincent Morinière, C. Henry, Lara De Tomasi, Madeline Louise Reilly, Camille Humbert, Olivier Alibeu, Cécile Fourrage, Christine Bôle‐Feysot, Patrick Nitschké, Frédéric Torès, Marc Bras, Marc Jeanpierre, Christine Piétrement, Dominique Gaillard, Marie Gonzalès, Robert Novo, Élise Schaefer, J. Roume, Jéléna Martinovic, Valérie Malan, Rémi Salomon, Sophie Saunier, Corinne Antignac, Marc Jeanpierre
Published 2017Artigo -
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A big-data approach to producing descriptive anthropometric references: a feasibility and validation study of paediatric growth charts by Barbara Heude, Pauline Scherdel, A. Werner, Morgane Le Guern, Nathalie Gelbert, Déborah Walther, Michel Arnould, M. Bellaïche, Bertrand Chevallier, J Cheymol, Emmanuel Jobez, Sylvie Nguyen, Christine Piétrement, Rachel Reynaud, Jean‐François Salaün, Babak Khoshnood, Jennifer Zeitlin, Jean Maccario, Gérard Bréart, Jean-Christophe Thalabard, Marie‐Aline Charles, Jérémie Botton, Bruno Frandji, Martin Chalumeau
Published 2019Artigo -
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Haploinsufficiency in PTPN2 leads to early-onset systemic autoimmunity from Evans syndrome to lupus by Marie Jeanpierre, Jade Cognard, Maud Tusseau, Quentin Riller, Linh‐Chi Bui, Jérémy Berthelet, Audrey Laurent, Étienne Crickx, Marianna Parlato, Marie–Claude Stolzenberg, Felipe Suárez, Guy Leverger, Nathalie Aladjidi, Sophie Collardeau‐Frachon, Christine Piétrement, Marion Malphettes, Antoine Froissart, Christine Bôle‐Feysot, Nicolas Cagnard, Fernando Rodrigues‐Lima, Thierry Walzer, Frédéric Rieux‐Laucat, Alexandre Bélot, Anne‐Laure Mathieu
Published 2024Artigo -
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Mutations of CEP83 Cause Infantile Nephronophthisis and Intellectual Disability by Marion Failler, Heon Yung Gee, Pauline Krug, Kwangsic Joo, Jan Halbritter, Lilya Belkacem, Emilie Filhol, Jonathan D. Porath, Daniela A. Braun, Markus Schueler, Amandine Frigo, Olivier Alibeu, Cécile Masson, Karine Brochard, Bruno Hurault de Ligny, Robert Novo, Christine Piétrement, Hülya Kayserili, Rémi Salomon, Marie‐Claire Gubler, Edgar A. Otto, Corinne Antignac, Joon Kim, Alexandre Benmerah, Friedhelm Hildebrandt, Sophie Saunier
Published 2014Artigo -
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Mainzer-Saldino Syndrome Is a Ciliopathy Caused by IFT140 Mutations by Isabelle Perrault, Sophie Saunier, Sylvain Hanein, Emilie Filhol, Albane A. Bizet, Felicity Collins, Mustafa A. Salih, S. Gerber, Nathalie Delphin, Karine Bigot, Christophe Orssaud, Eduardo Silva, Véronique Baudouin, Machteld M. Oud, Nora Shannon, Martine Le Merrer, Olivier Roche, Christine Piétrement, Jamal Goumid, Clarisse Baumann, Christine Bôle‐Feysot, Patrick Nitschké, Mohammed Zahrate, Philip L. Beales, Heleen H. Arts, Arnold Münnich, Josseline Kaplan, Corinne Antignac, Valérie Cormier‐Daire, Jean‐Michel Rozet
Published 2012Artigo -
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Mutations in GREB1L Cause Bilateral Kidney Agenesis in Humans and Mice by Lara De Tomasi, Pierre David, Camille Humbert, Flora Silbermann, Christelle Arrondel, Frédéric Torès, Stéphane Fouquet, Audrey Desgrange, Olivier Niel, Christine Bôle‐Feysot, Patrick Nitschké, J. Roume, Marie‐Pierre Cordier, Christine Piétrement, Bertrand Isidor, Philippe Khau Van Kien, Marie Gonzalès, Marie‐Hélène Saint‐Frison, Jéléna Martinovic, Robert Novo, Juliette Piard, Christelle Cabrol, Ishwar C. Verma, Ratna Dua Puri, Hubert Journel, Jacqueline Aziza, Laurent Gavard, Marie-Hélène Saïd-Menthon, Laurence Heidet, Sophie Saunier, Marc Jeanpierre
Published 2017Artigo
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