Ohcanbohtosat - Sophie Gié
- Čájehuvvo 1 - 5 / 5
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1
Mutations of NPHP2 and NPHP3 in infantile nephronophthisis Dahkki Kálmán Tory, Caroline Rousset‐Rouvière, Marie‐Claire Gubler, Vincent Morinière, Audrey Pawtowski, C. Becker, C. Guyot, Sophie Gié, Yaacov Frishberg, Hubert Nivet, Georges Deschênes, Pierre Cochat, Marie‐France Gagnadoux, Sophie Saunier, Corinne Antignac, Rémi Salomon
Almmustuhtton 2009Artigo -
2
Differential Impact of Complement Mutations on Clinical Characteristics in Atypical Hemolytic Uremic Syndrome Dahkki 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
Almmustuhtton 2007Artigo -
3
PKD2 -Related Autosomal Dominant Polycystic Kidney Disease: Prevalence, Clinical Presentation, Mutation Spectrum, and Prognosis Dahkki Émilie Cornec-Le Gall, M.‐P. Audrézet, E. Renaudineau, Maryvonne Hourmant, Christophe Charasse, E. Michez, T. Frouget, Cécile Vigneau, Jacques Dantal, P. Siohan, Hélène Longuet, Philippe Gatault, Laure Écotière, Frank Bridoux, Lise Mandart, Catherine Hanrotel‐Saliou, C. Stanescu, Pascale Depraêtre, Sophie Gié, M Massad, Aude Kersalé, Guillaume Séret, Jean‐François Augusto, Philippe Saliou, Sandrine Maestri, Jian‐Min Chen, Peter C. Harris, Claude Férec, Yannick Le Meur
Almmustuhtton 2017Artigo -
4
Mutations in complement C3 predispose to development of atypical hemolytic uremic syndrome Dahkki Véronique Frémeaux‐Bacchi, Elizabeth C. Miller, M. Kathryn Liszewski, Lisa Strain, Jacques Blouin, Alison L. Brown, Nadeem Moghal, Bernard S. Kaplan, Robert A. Weiss, Karl Lhotta, Gaurav Kapur, Tej K. Mattoo, Hubert Nivet, William Wong, Sophie Gié, Bruno Hurault de Ligny, Michel Fischbach, Ritu Gupta, Richard E. Hauhart, Vincent Meunier, Chantal Loirat, Marie‐Agnès Dragon‐Durey, Wolf H. Fridman, B.J.C. Janssen, Timothy H.J. Goodship, John P. Atkinson
Almmustuhtton 2008Artigo -
5
The genetic landscape and clinical spectrum of nephronophthisis and related ciliopathies Dahkki 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
Almmustuhtton 2023Artigo
Ohcanreaiddut:
Laktáseaddji fáttát
Biology
Gene
Genetics
Medicine
Mutation
Internal medicine
Antibody
Atypical hemolytic uremic syndrome
Complement factor I
Complement system
Disease
Factor H
Immunology
Kidney disease
Nephronophthisis
Phenotype
Alternative complement pathway
Autosomal dominant polycystic kidney disease
Bardet–Biedl syndrome
CD46
Ciliogenesis
Ciliopathies
Ciliopathy
Cilium
Cohort
Complement factor B
Cystic kidney disease
Eculizumab
Environmental health
Exome sequencing