Resultats de la cerca - Stéphane Decramer
- Mostrar 1 - 20 resultats de 29
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1
Consensus recommendations for diagnosis, management and treatment of Fabry disease in paediatric patients per Dominique P. Germain, Alain Fouilhoux, Stéphane Decramer, M. Tardieu, Pascal Pillet, Marc Fila, Serge Rivera, Georges Deschênes, Didier Lacombe
Publicat 2019Artigo -
2
Anomalies of the TCF2 Gene Are the Main Cause of Fetal Bilateral Hyperechogenic Kidneys per Stéphane Decramer, Olivier Parant, Sandrine Beaufils, Séverine Clauin, Cécile Guillou, S. Kessler, Jacqueline Aziza, Isabel Bandı́n, Joost P. Schanstra, Christine Bellanné‐Chantelot
Publicat 2007Artigo -
3
Congenital ureteropelvic junction obstruction: human disease and animal models per Julie Klein, Julien Gonzalez, Mathieu Miravète, Cécile Caubet, Rana Chaaya, Stéphane Decramer, Isabel Bandı́n, Jean‐Loup Bascands, Bénédicte Buffin‐Meyer, Joost P. Schanstra
Publicat 2010Revisão -
4
The HNF1B score is a simple tool to select patients for HNF1B gene analysis per Stanislas Faguer, Nicolas Chassaing, Isabel Bandı́n, Cathie Prouheze, Arnaud Garnier, Audrey Casemayou, Antoine Huart, Joost P. Schanstra, Patrick Calvas, Stéphane Decramer, Dominique Chauveau
Publicat 2014Revisão -
5
Spectrum of HNF1B Mutations in a Large Cohort of Patients Who Harbor Renal Diseases per Laurence Heidet, Stéphane Decramer, Audrey Pawtowski, Vincent Morinière, Isabel Bandı́n, Bertrand Knebelmann, Anne-Sophie Lèbre, Stanislas Faguer, Vincent Guigonis, Corinne Antignac, Rémi Salomon
Publicat 2010Artigo -
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7
Diagnosis, management, and prognosis of HNF1B nephropathy in adulthood per Stanislas Faguer, Stéphane Decramer, Nicolas Chassaing, Christine Bellanné‐Chantelot, Patrick Calvas, Sandrine Beaufils, Lucie Bessenay, Jean‐Philippe Lengelé, Karine Dahan, Pierre Ronco, Olivier Devuyst, Dominique Chauveau
Publicat 2011Artigo -
8
Renal Phenotypes Related to Hepatocyte Nuclear Factor-1β (TCF2) Mutations in a Pediatric Cohort per Tim Ulinski, Sandra Lescure, Sandrine Beaufils, Vincent Guigonis, Stéphane Decramer, Denis Morin, Séverine Clauin, Georges DescheCombining Circumflex Accentnes, F Bouissou, A Bensman, Christine Bellanné‐Chantelot
Publicat 2005Artigo -
9
Cryptosporidium spp. Infection in Solid Organ Transplantation per Fanny Lanternier, Karima Amazzough, Loïc Favennec, Marie‐France Mamzer, Hendy Abdoul, Jérôme Tourret, Stéphane Decramer, Julien Zuber, Anne Scemla, Christophe Legendre, Olivier Lortholary, Marie‐Elisabeth Bougnoux
Publicat 2016Artigo -
10
Pharmacokinetics of mycophenolate mofetil in children with lupus and clinical findings in favour of therapeutic drug monitoring per Jean‐Baptiste Woillard, Brigitte Bader‐Meunier, Rémi Salomon, Bruno Ranchin, Stéphane Decramer, Michel Fischbach, E. Bérard, Vincent Guigonis, Jérôme Harambat, Olivier Dunand, Julie Tenenbaum, Pierre Marquet, Franck Saint‐Marcoux
Publicat 2014Artigo -
11
Mycophenolic Acid Pharmacokinetics and Relapse in Children with Steroid–Dependent Idiopathic Nephrotic Syndrome per Stéphanie Tellier, A. Dallocchio, Vincent Guigonis, F. Saint-Marcoux, Brigitte Llanas, L. Ichay, Isabel Bandı́n, A. Godron, Denis Morin, Karine Brochard, Peggy Gandia, Stéphane Bouchet, Pierre Marquet, Stéphane Decramer, Jérôme Harambat
Publicat 2016Artigo -
12
Hepatocyte Nuclear Factor-1β Controls Mitochondrial Respiration in Renal Tubular Cells per Audrey Casemayou, Audren Fournel, Alessia Bagattin, Joost P. Schanstra, Julie Bellière, Stéphane Decramer, Dimitri Marsal, M. Gillet, Nicolas Chassaing, Antoine Huart, Marco Pontoglio, Claude Knauf, Jean‐Loup Bascands, Dominique Chauveau, Stanislas Faguer
Publicat 2017Artigo -
13
Nephrin Mutations Can Cause Childhood-Onset Steroid-Resistant Nephrotic Syndrome per AureCombining Acute Accentlie Philippe, Fabien Névo, Ernie Esquivel, Dalia Reklaityte, Olivier Gribouval, Marie-JoseCombining Grave Accentphe TeCombining Circumflex Accentte, Chantal Loirat, Jacques Dantal, Michel Fischbach, Claire Pouteil‐Noble, Stéphane Decramer, Martin Hoehne, Thomas Benzing, Marina Charbit, Patrick Niaudet, Corinne Antignac
Publicat 2008Artigo -
14
Prevalence of Novel MAGED2 Mutations in Antenatal Bartter Syndrome per 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
Publicat 2017Artigo -
15
Definition, diagnosis and management of fetal lower urinary tract obstruction: consensus of the ERKNet CAKUT-Obstructive Uropathy Work Group per Valentina Capone, Nicola Persico, Alfredo Berrettini, Stéphane Decramer, Erika Adalgisa De Marco, Diego De Palma, Alessandra Familiari, Wout Feitz, Maria Herthelius, Vytis Kazlauskas, Max C. Liebau, Gianantonio Manzoni, Michał Maternik, Giovanni Mosiello, Joost P. Schanstra, Johan Vande Walle, Elke Wühl, Elisa Ylinen, Aleksandra Żurowska, Franz Schaefer, Giovanni Montini
Publicat 2022Revisão -
16
Clinical characteristics and outcomes of childhood-onset ANCA-associated vasculitis: a French nationwide study per 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
Publicat 2015Artigo -
17
Real-world use of complement inhibitors for haemolytic uraemic syndrome: an analysis of the European Rare Kidney Disease Registry cohort per Aleksandra Vujović, Anne‐Laure Sellier‐Leclerc, Maria Cristina Mancuso, Olivia Boyer, Atif Awan, Antonio Gargiulo, Sebastian Loos, Marc Fila, Augustina Jankauskiené, Gema Ariceta, Nele Kanzelmeyer, Enrico Vidal, Maria Van Dyck, Tanja Kersnik Levart, N Simánková, Stéphane Decramer, Jonas Hofstetter, Marina Vivarelli, Savino Sciascia, Nicole C. A. J. van de Kar, Franz Schaefer
Publicat 2025Artigo -
18
Comprehensive PKD1 and PKD2 Mutation Analysis in Prenatal Autosomal Dominant Polycystic Kidney Disease per Marie‐Pierre Audrézet, Christine Corbiere, Saïd Lebbah, Vincent Morinière, Françoise Broux, Férielle Louillet, Michel Fischbach, Ariane Zaloszyc, Sylvie Cloarec, Élodie Merieau, Véronique Baudouin, Georges Deschênes, G. Roussey, Sandrine Maestri, Chiara Visconti, Olivia Boyer, Carine Abel, Annie Lahoche, Hanitra Randrianaivo, Lucie Bessenay, Djalila Mekahli, Inès Ouertani, Stéphane Decramer, Amélie Ryckenwaert, Émilie Cornec-Le Gall, Rémi Salomon, Claude Férec, Laurence Heidet
Publicat 2015Artigo -
19
CKD and Its Risk Factors among Patients with Cystinuria per Caroline Prot‐Bertoye, Saïd Lebbah, Michel Daudon, Isabelle Tostivint, Pierre Bataille, Frank Bridoux, Pierre Brignon, Christian Choquenet, Pierre Cochat, Christian Combe, Pierre Conort, Stéphane Decramer, B. Doré, Bertrand Dussol, Marie Essig, Nicolas Gaunez, Dominique Joly, Sophie Le Toquin‐Bernard, Arnaud Méjean, P. Méria, Denis Morin, Hung Viet N’Guyen, Christian Noël, Michel Normand, M. Pietak, Pierre Ronco, C. Saussine, Michel Tsimaratos, Gérard Friedlander, Olivier Traxer, Bertrand Knebelmann, Marie Courbebaisse
Publicat 2015Artigo -
20
Mutation affecting the conserved acidic WNK1 motif causes inherited hyperkalemic hyperchloremic acidosis per Hélène Louis-Dit-Picard, Ilektra Kouranti, Chloé Rafael, Irmine Ferreira, María Chávez‐Canales, Waed Abdel-Khalek, Eduardo R. Argaiz, Stéphanie Baron, Sarah Vacle, Tiffany Migeon, Richard A. Coleman, Marcio Do Cruzeiro, Marguerite Hureaux, N. Thurairajasingam, Stéphane Decramer, Xavier Girerd, Kevin O’Shaugnessy, Paolo Mulatero, G. Roussey, Ivan Tack, Robert J. Unwin, Rosa Vargas‐Poussou, Olivier Staub, Richard A. Grimm, Paul A. Welling, Gerardo Gamba, Éric Clauser, Juliette Hadchouel, Xavier Jeunemaı̂tre
Publicat 2020Artigo
Eines de cerca:
Matèries relacionades
Internal medicine
Medicine
Biology
Genetics
Gene
Endocrinology
Kidney
Disease
Kidney disease
Mutation
Pediatrics
Gastroenterology
Chemistry
Cohort
Pathology
Renal function
Diabetes mellitus
Gene expression
HNF1B
Nephropathy
Surgery
Bartter syndrome
Compound heterozygosity
Frameshift mutation
Homeobox
Hypokalemia
Inflammation
Missense mutation
Nephrology
Obstetrics