Search Results - Emmanuelle Cochet
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1
The Risk of Familial Mediterranean Fever in MEFV Heterozygotes: A Statistical Approach by Isabelle Jéru, Véronique Hentgen, Emmanuelle Cochet, Philippe Duquesnoy, Gaëlle Le Borgne, E. Grimprel, Katia Stankovic Stojanovic, Sonia Karabina, Gilles Grateau, Serge Amselem
Published 2013Artigo -
2
Mutations in <i>NALP12</i> cause hereditary periodic fever syndromes by Isabelle Jéru, Philippe Duquesnoy, Teresa Fernandes‐Alnemri, Emmanuelle Cochet, Je‐Wook Yu, Marilyn Lackmy-Port-Lis, E. Grimprel, Judith Landman‐Parker, Véronique Hentgen, Sandrine Marlin, Ken McElreavey, Tamara Sarkisian, Gilles Grateau, Emad S. Alnemri, Serge Amselem
Published 2008Artigo -
3
Exome sequencing in congenital ataxia identifies two new candidate genes and highlights a pathophysiological link between some congenital ataxias and early infantile epileptic ence... by Stéphanie Valence, Emmanuelle Cochet, Christelle Rougeot, Cathérine Garel, Sandra Chantot‐Bastaraud, Élodie Lainey, Alexandra Afenjar, Marie-Anne Barthez, Nathalie Bednarek, Diane Doummar, Laurence Faivre, Cyril Goizet, Damien Haye, Bénédicte Héron, Isabelle Kemlin, Didier Lacombe, Mathieu Milh, Marie‐Laure Moutard, Florence Riant, Stéphanie Robin, Agathe Roubertie, Pierre Sarda, Annick Toutain, Laurent Villard, Dorothée Ville, Thierry Billette de Villemeur, Diana Rodriguez, Lydie Bürglen
Published 2018Artigo -
4
Familial autoinflammation with neutrophilic dermatosis reveals a regulatory mechanism of pyrin activation by Seth L. Masters, Vasiliki Lagou, Isabelle Jéru, Paul J. Baker, Lien Van Eyck, David Parry, Dylan Lawless, Dominic De Nardo, Josselyn E. Garcia‐Perez, Laura F. Dagley, Caroline L. Holley, James Dooley, Fiona Moghaddas, Emanuela Pasciuto, Pierre‐Yves Jeandel, Raf Sciot, Dena Lyras, Andrew I. Webb, Sandra E. Nicholson, Lien De Somer, Erika Van Nieuwenhove, Julia Ruuth-Praz, Bruno Copin, Emmanuelle Cochet, Myrna Medlej‐Hashim, André Mégarbané, Kate Schroder, Sinisa Savic, An Goris, Serge Amselem, Carine Wouters, Adrian Liston
Published 2016Artigo
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Biology
Gene
Genetics
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Disease
Familial Mediterranean fever
Mutation
Bioinformatics
Inflammasome
Pathology
Pyrin domain
Allele
Ataxia
Candidate gene
Computational biology
Consanguinity
Copy-number variation
Dermatology
Epistemology
Exome
Exome sequencing
Gene mutation
Genetic heterogeneity
Genome
Heterozygote advantage
Immunology
Inflammation
Internal medicine
MEFV
Mechanism (biology)