תוצאות חיפוש - Denis Morin
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The D136A mutation of the V<sub>2</sub>vasopressin receptor induces a constitutive activity which permits discrimination between antagonists with partial agonist and inverse agonis... מאת Denis Morin, Nathalie de la Cotte, Marie‐Noëlle Balestre, Bernard Mouillac, Maurice Manning, Christophe Breton, Claude Barberis
יצא לאור 1998Artigo -
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Biased Agonist Pharmacochaperones of the AVP V2 Receptor May Treat Congenital Nephrogenic Diabetes Insipidus מאת Frédéric Jean‐Alphonse, Sanja Perkovska, Marie‐Céline Frantz, Thierry Durroux, Catherine Méjean, Denis Morin, Stéphanie Loison, Dominique Bonnet, Marcel Hibert, Bernard Mouillac, Christiane Mendre
יצא לאור 2009Artigo -
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Renal Phenotypes Related to Hepatocyte Nuclear Factor-1β (TCF2) Mutations in a Pediatric Cohort מאת 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
יצא לאור 2005Artigo -
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Pharmacological chaperones rescue cell-surface expression and function of misfolded V2 vasopressin receptor mutants מאת Jean-Pierre Morello, Ali Salahpour, André Laperrière, Virginie Bernier, Marie‐Françoise Arthus, Michèle Lonergan, Ulla E. Petäjä‐Repo, Stéphane Angers, Denis Morin, Daniel G. Bichet, Michel Bouvier
יצא לאור 2000Artigo -
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A Randomized Controlled Crossover Trial with Delayed-Release Cysteamine Bitartrate in Nephropathic Cystinosis מאת Craig B. Langman, Larry A. Greenbaum, Minnie Sarwal, Paul C. Grimm, Patrick Niaudet, Georges Deschênes, Marlies Cornelissen, Denis Morin, Pierre Cochat, Debora Matossian, Ségolène Gaillard, Mary Jo Bagger, Patrice Rioux
יצא לאור 2012Artigo -
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Mycophenolic Acid Pharmacokinetics and Relapse in Children with Steroid–Dependent Idiopathic Nephrotic Syndrome מאת 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
יצא לאור 2016Artigo -
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Quality of Life is Improved and Kidney Function Preserved in Patients with Nephropathic Cystinosis Treated for 2 Years with Delayed-Release Cysteamine Bitartrate מאת Craig B. Langman, Larry A. Greenbaum, Paul C. Grimm, Minnie Sarwal, Patrick Niaudet, Georges Deschênes, Marlies Cornelissen, Denis Morin, Pierre Cochat, Ewa Elenberg, Christian Hanna, Ségolène Gaillard, Mary Jo Bagger, Patrice Rioux
יצא לאור 2014Artigo -
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Report of 33 Novel AVPR2 Mutations and Analysis of 117 Families with X-Linked Nephrogenic Diabetes Insipidus מאת Marie-FrancCOMBINING CEDILLAoise Arthus, MICHECombining Grave AccentLE LONERGAN, M. JOYCE CRUMLEY, Anna K. Naumova, Denis Morin, Luiz Armando De Marco, Bernard S. Kaplan, Gary L. Robertson, Sei Sasaki, Kenneth Morgan, Daniel G. Bichet, Takuya Fujiwara
יצא לאור 2000Artigo -
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Differential Impact of Complement Mutations on Clinical Characteristics in Atypical Hemolytic Uremic Syndrome מאת Anne‐Laure Sellier‐Leclerc, Véronique Frémeaux‐Bacchi, Marie‐Agnès Dragon‐Durey, Marie-Alice Macher, Patrick Niaudet, Geneviève Guest, B. Boudailliez, F Bouissou, Georges Deschênes, Sophie Gié, Michel Tsimaratos, Michel Fischbach, Denis Morin, Hubert Nivet, Corinne Alberti, Chantal Loirat
יצא לאור 2007Artigo -
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Prevalence of Novel MAGED2 Mutations in Antenatal Bartter Syndrome מאת 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
יצא לאור 2017Artigo -
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Recessive mutations in DGKE cause atypical hemolytic-uremic syndrome מאת Mathieu Lemaire, Véronique Frémeaux‐Bacchi, Franz Schaefer, Murim Choi, Wai Ho Tang, Moglie Le Quintrec, Fádi Fakhouri, Sophie Taque, François Nobili, Frank Martinez, Weizhen Ji, John D. Overton, Shrikant Mane, Gudrun Nürnberg, Janine Altmüller, Hölger Thiele, Denis Morin, Georges Deschênes, Véronique Baudouin, Brigitte Llanas, Laure Collard, Mohammed Abdul Majid, Eva Šimková, Peter Nürnberg, Nathalie Rioux-Leclerc, Gilbert Moeckel, Marie‐Claire Gubler, John Hwa, Chantal Loirat, Richard P. Lifton
יצא לאור 2013Artigo -
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CKD and Its Risk Factors among Patients with Cystinuria מאת 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
יצא לאור 2015Artigo -
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Mutation Update of the<i>CLCN5</i>Gene Responsible for Dent Disease 1 מאת Lamisse Mansour‐Hendili, Anne Blanchard, Nelly Le Pottier, Isabelle Roncelin, Stéphane Lourdel, Cyrielle Tréard, Wendy González, Ariela Vergara‐Jaque, Gilles Morin, Estelle Colin, Muriel Holder‐Espinasse, Justine Bacchetta, Véronique Baudouin, Stéphane L. Benoit, E. Bérard, Guylhène Bourdat-Michel, Karim Bouchireb, Stéphane Burtey, Mathilde Cailliez, Gérard Cardon, C. Cartery, Gérard Champion, Dominique Chauveau, Pierre Cochat, Karin Dahan, Renaud de la Faille, François-Guillaume Debray, Laurenne Dehoux, Georges Deschênes, Éstelle Desport, Olivier Devuyst, Stella M. Dieguez, Francesco Emma, Michel Fischbach, Denis Fouque, Jacques Fourcade, Arnaud François, Brigitte Gilbert‐Dussardier, Thierry Hannedouche, Pascal Houillier, Hassan Izzedine, Marco Janner, Alexandre Karras, Bertrand Knebelmann, Marie-Pierre Lavocat, Sandrine Lemoine, Valériane Leroy, Chantal Loirat, Marie-Alice Macher, Dominique Martin–Coignard, Denis Morin, Patrick Niaudet, Hubert Nivet, François Nobili, Robert Novo, Laurence Faivre, Claire Rigothier, Gwénaëlle Roussey-Kesler, Rémi Salomon, Andreas Schleich, A.L. Sellier-Leclerc, Kenza Soulami, A. Tiple, Tim Ulinski, Philippe Vanhille, Nicole Van Regemorter, Xavier Jeunemaı̂tre, Rosa Vargas‐Poussou
יצא לאור 2015Revisão -
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Refining genotype–phenotype correlations in 304 patients with autosomal recessive polycystic kidney disease and PKHD1 gene variants מאת Kathrin Burgmaier, Leonie Violetta Brinker, Florian Erger, Bodo B. Beck, Marcus R. Benz, Carsten Bergmann, Olivia Boyer, Laure Collard, Claudia Dafinger, Marc Fila, Claudia Kowalewska, Bärbel Lange-Sperandio, Laura Massella, Antonio Mastrangelo, Djalila Mekahli, Monika Miklaszewska, Nadina Ortiz-Bruechle, Ludwig Patzer, Larisa Prikhodina, Bruno Ranchin, Nadejda Ranguelov, Raphael Schild, Tomáš Seeman, Lale Sever, Przemysław Sikora, Maria Szczepańska, Ana Teixeira, Julia Thumfart, Barbara Uetz, Lutz T. Weber, Elke Wühl, Klaus Zerres, Jörg Dötsch, Franz Schaefer, Max C. Liebau, Loai Eid, Klaus Arbeiter, Nathalie Godefroid, Jacques Lombet, Aurélie De Mul, Markus Feldkoetter, Jakub Zieg, Franziska Grundmann, Matthias Galiano, Bjoern Buchholz, Anja Buescher, Karsten Häffner, Oliver Groß, Ludwig Patzer, Jun Oh, Dieter Haffner, Wanja M. Bernhardt, Susanne Schaefer, Simone Wygoda, Jan Halbritter, Ute Derichs, Günter Klaus, Felix Lechner, Sabine Ponsel, Jens König, Hagen Staude, Donald Wurm, Martin Bald, Michaela Geßner, Neveen A. Soliman, Gema Ariceta, Juan David González-Rodríguez, Francisco de la Cerda Ojeda, Jérôme Harambat, Denis Morin, Claire Dossier, Guillaume Dorval, Rukshana Shroff, Stella Stabouli, Nakysa Hooman, Francesca Mencarelli, William Morello, Germana Longo, Francesco Emma, Augustina Jankauskiené, Katarzyna Taranta‐Janusz, Ilona Zagożdżon, Katarzyna Zachwieja, Małgorzata Stańczyk, Beata Bieniaś, Mieczysław Litwin, Aurelia Morawiec‐Knysak, Alberto Caldas Afonso, Oliver Dunand, Andreea Liana Răchişan, Gordana Miloševski‐Lomić, Svetlana Papizh, Rina Rus, Houweyda Jilani, Bahriye Atmış, Ali Düzova, Alper Soylu, Cengiz Candan, Salim Çalışkan, Alev Yılmaz
יצא לאור 2021Artigo -
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The genetic landscape and clinical spectrum of nephronophthisis and related ciliopathies מאת Friederike Petzold, Katy Billot, Xiaoyi Chen, C. Henry, Emilie Filhol, Yoann Martin, Marina Avramescu, Maxime Douillet, Vincent Morinière, Pauline Krug, Marc Jeanpierre, Kálmán Tory, Olivia Boyer, Anita Burgun, Aude Servais, Rémi Salomon, Alexandre Benmerah, Laurence Heidet, Nicolas Garcelon, Corinne Antignac, Mohamad Zaidan, Sophie Saunier, Tania Attié‐Bitach, Valerie Comier-Daire, Jean‐Michel Rozet, Yaacov Frishberg, Brigitte Llanas, M. Broyer, Nabil Mohsin, Marie‐Alice Macher, Nicole Philip, Véronique Baudouin, D. Brackman, Chantal Loirat, Marina Charbit, Maud Dehennault, C. Guyot, Pierre Bataille, Mariet Elting, Georges Deschênes, Andrea Gropman, Geneviève Guest, Marie‐France Gagnadoux, Philippe Nicoud, Pierre Cochat, Bruno Ranchin, A Bensman, Anne‐Marie Guerrot, Bertrand Knebelmann, İlmay Bilge, Bruno Daniele, Stéphane Burtey, Caroline Rousset Rouvière, Valérie Caudwell, Denis Morin, Hélène Dollfus, Anne Maisin, Christian Hamel, Éric Bieth, Sophie Gié, Judith Goodship, G. Roussey, Hermine La Selve, Hubert Nivet, Lucie Bessenay, Mathilde Caillez, Jean Bernard Palcoux, Stéphane L. Benoit, Philippe Dubot, Marc Fila, Fabienne Giuliano, Daouya Iftene, M. Kessler, Thérèsa Kwon, A. Lahoche, Audrey Laurent, Anne-Laure Leclerc, David V. Milford, Thomas J. Neuhaus, Sylvie Odent, Philippe Eckart, Dominique Chauveau, Patrick Niaudet, Horacio A. Repetto, Sophie Taque, Alexandra Bruel, Alexandra Noel-Botte, Emma Allain Launay, Lisa Allard, Dany Anlicheau, Anne-Laure Adra, Arnaud Garnier, Arvind Nagra, Remy Baatard, Justine Bacchetta, Banu Sadıkoğlu, Christine Barnérias, Anne Barthélémy, Lina Basel, Nader Bassilios
יצא לאור 2023Artigo
כלי חיפוש:
נושאים קשורים
Medicine
Internal medicine
Biology
Gene
Chemistry
Genetics
Biochemistry
Endocrinology
Mutation
Gastroenterology
Pathology
Phenotype
Antagonist
Arginine vasopressin receptor 2
Cysteine
Cystine
Environmental health
Enzyme
Kidney
Missense mutation
Pediatrics
Population
Receptor
Renal function
Urology
Vasopressin
Vasopressin receptor
Agonist
Antibody
Atypical hemolytic uremic syndrome