المؤلفون: Isabelle Jéru, Véronique Hentgen, Emmanuelle Cochet, Philippe Duquesnoy, Gaëlle Le Borgne, Emmanuel Grimprel, Katia Stankovic Stojanovic, Sonia Karabina, Gilles Grateau, Serge Amselem

المصدر: PLoS ONE, Vol 8, Iss 7, p e68431 (2013)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: http://europepmc.org/articles/PMC3700951?pdf=render; https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/bc72dfd9ced24aeb9b67747ca242faac

المؤلفون: Isabelle Jéru, Serge Charmion, Emmanuelle Cochet, Bruno Copin, Philippe Duquesnoy, Maria Teresa Mitjavila Garcia, Gaëlle Le Borgne, Pascal Cathebras, Jacques Gaillat, Sonia Karabina, Catherine Dodé, Peter Lohse, Véronique Hentgen, Serge Amselem

المصدر: PLoS ONE, Vol 8, Iss 7, p e69757 (2013)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: http://europepmc.org/articles/PMC3722142?pdf=render; https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/a7df9f4a313f47e890afe480545ec82c

المؤلفون: Serge Amselem, Shayan Sheykholeslami, Sandra Chantot-Bastaraud, Gaëlle Le Borgne, Véronique Hentgen, Philippe Duquesnoy, Isabelle Jéru, Sonia Karabina, Emmanuelle Cochet, Bruno Copin, Mathieu Mahevas, Florence Dastot-Le Moal, Laurence Faivre, Jean-Claude Lecron, Valérie Malan, Maria Teresa Mitjavila-Garcia

المصدر: Arthritis & Rheumatology. 66:2621-2627

مصطلحات موضوعية: Mutation, Innate immune system, Point mutation, Immunology, Biology, medicine.disease_cause, Frameshift mutation, Proinflammatory cytokine, Rheumatology, Genotype, Gene duplication, medicine, Immunology and Allergy, Copy-number variation

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::ffd72ea4c50e59eb69eb72e147d2342b
https://doi.org/10.1002/art.38727

المؤلفون: Gilles Grateau, Philippe Duquesnoy, Tamara Sarkisian, Hasmik Hayrapetyan, Isabelle Jéru, Emmanuelle Cochet, A. Morali, Serge Amselem, Gaëlle Le Borgne

المساهمون: Physiopathologie des maladies génétiques d'expression pédiatrique, Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM), CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Center of Medical Genetics & Primary Health Care [Yerevan, Armenia] (CMGPHC), CHU Tenon [AP-HP], Centre Hospitalier Universitaire de Nancy (CHU Nancy), Supported by the Agence Nationale pour la Recherche (grant06-MRAR-010-02), the European Union Sixth Framework Pro-gramme (EURAMY project grant LSHM-CT-2006-037525), the As-sociation Franc ̧ois Aupetit, and the International Science and Tech-nology Center (grant A-1580), Service de génétique et embryologie médicales [CHU Trousseau], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Couvet, Sandrine

المصدر: Arthritis & rheumatology
Arthritis & rheumatology, 2011, 63 (5), pp.1459-1464. ⟨10.1002/art.30241⟩
Arthritis & Rheumatism
Arthritis & Rheumatism, 2011, 63 (5), pp.1459-1464. ⟨10.1002/art.30241⟩

مصطلحات موضوعية: Genetics, Mutation, Splice site mutation, [SDV]Life Sciences [q-bio], Hereditary Autoinflammatory Diseases, Immunology, Haplotype, Intracellular Signaling Peptides and Proteins, Mutation, Missense, [SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics, Biology, medicine.disease_cause, Phenotype, [SDV] Life Sciences [q-bio], Exon, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Rheumatology, CpG site, medicine, Humans, Immunology and Allergy, Missense mutation, Pharmacology (medical), Gene

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4b9ee1c4e1a955091ad444b5d8cc26e5
https://doi.org/10.1002/art.30241

المؤلفون: Robin Dhote, Emad S. Alnemri, Véronique Hentgen, Serge Amselem, Philippe Duquesnoy, Teresa Fernandes Alnemri, Sylvain Normand, Jean-Claude Lecron, Laurence Cuisset, Isabelle Jéru, Gilles Grateau, Gaëlle Le Borgne, Florence Dastot-Le Moal, Sandrine Marlin, Emmanuelle Cochet

المساهمون: Physiopathologie des maladies génétiques d'expression pédiatrique, Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM), CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Génétique Microbienne et Environnement (GME), Institut National de la Recherche Agronomique (INRA), Centre hospitalier universitaire de Poitiers (CHU Poitiers), Laboratoire Inflammation, Tissus épithéliaux et Cytokines (LITEC), Université de Poitiers, Institut Cochin (UMR_S567 / UMR 8104), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Centre Hospitalier de Versailles André Mignot (CHV), University of Pennsylvania, Hôpital Avicenne [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Université Paris 13 (UP13), CHU Tenon [AP-HP], Supported by the Fondation pour la Recherche Medicale(grant SC 080910), the European Union Sixth Framework Programme(EURAMY project grant LSHM-CT-2006-037525), and the NIH(grants AGA-4357 and AR-055398), Couvet, Sandrine

المصدر: Arthritis and Rheumatism
Arthritis and Rheumatism, 2010, 62 (4), pp.1176-1185. ⟨10.1002/art.27326⟩

مصطلحات موضوعية: Male, [SDV]Life Sciences [q-bio], Interleukin-1beta, [SDV.GEN] Life Sciences [q-bio]/Genetics, Kidney, Monocytes, Exon, 0302 clinical medicine, Immunology and Allergy, Missense mutation, Pharmacology (medical), Genetics, 0303 health sciences, integumentary system, Phenotype, 3. Good health, [SDV] Life Sciences [q-bio], [SDV.IMM]Life Sciences [q-bio]/Immunology, Cytokines, Female, Plasmids, [SDV.IMM] Life Sciences [q-bio]/Immunology, Immunology, Caspase 1, Mutation, Missense, Mothers, Locus (genetics), Biology, Leucine-rich repeat, Cell Line, 03 medical and health sciences, Germline mutation, Rheumatology, NLR Family, Pyrin Domain-Containing 3 Protein, medicine, Humans, Amino Acid Sequence, Germ-Line Mutation, 030304 developmental biology, DNA Primers, 030203 arthritis & rheumatology, [SDV.GEN]Life Sciences [q-bio]/Genetics, Siblings, Hereditary Autoinflammatory Diseases, Cryopyrin-associated periodic syndrome, Genetic Variation, DNA, medicine.disease, Cancer research, Carrier Proteins

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2d17e04f5cf3960609afc2b8571d72ef
https://pubmed.ncbi.nlm.nih.gov/20583107

المؤلفون: Sonia Karabina, Maria Teresa Mitjavila Garcia, Véronique Hentgen, Catherine Dodé, Gaëlle Le Borgne, Jacques Gaillat, Serge Charmion, Emmanuelle Cochet, Peter Lohse, Bruno Copin, Isabelle Jéru, Philippe Duquesnoy, Pascal Cathébras, Serge Amselem

المساهمون: Physiopathologie des maladies génétiques d'expression pédiatrique, Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM), CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Centre Hospitalier Universitaire de Saint-Etienne [CHU Saint-Etienne] (CHU ST-E), Modèles de Cellules Souches Malignes et Thérapeutiques, Université Paris-Sud - Paris 11 (UP11)-Institut National de la Santé et de la Recherche Médicale (INSERM), CHU Pitié-Salpêtrière [AP-HP], Centre Hospitalier Annecy-Genevois [Saint-Julien-en-Genevois], Hôpital Cochin [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), University-Hospital Munich-Großhadern [München], Centre de Référence des Maladies Auto-Inflammatoires et des Amyloses [CH Versailles] (CeRéMAIA - Hôpital André Mignot), Centre Hospitalier de Versailles André Mignot (CHV), Service de génétique et embryologie médicales [CHU Trousseau], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), CHU Saint-Etienne, Departement Hospitalo- Universitaire - Inflammation, Immunopathologie, Biothérapie [Paris] (DHU - I2B), Université Pierre et Marie Curie - Paris 6 (UPMC)-CHU Pitié-Salpêtrière [AP-HP], Couvet, Sandrine

المصدر: PLoS ONE
PLoS ONE, 2013, 8 (7), pp.e69757. ⟨10.1371/journal.pone.0069757⟩
PLoS ONE, Vol 8, Iss 7, p e69757 (2013)

مصطلحات موضوعية: Male, Heredity, Arginine, [SDV]Life Sciences [q-bio], lcsh:Medicine, [SDV.GEN] Life Sciences [q-bio]/Genetics, Polymerase Chain Reaction, Protein structure, Genotype, Missense mutation, lcsh:Science, Child, Receptor, Genetics, Multidisciplinary, Flow Cytometry, Penetrance, Innate Immunity, Pedigree, [SDV] Life Sciences [q-bio], Protein Transport, Autosomal Dominant, Receptors, Tumor Necrosis Factor, Type I, Medicine, [SDV.IMM]Life Sciences [q-bio]/Immunology, Female, Research Article, Adult, [SDV.IMM] Life Sciences [q-bio]/Immunology, Adolescent, In silico, Immunology, Blotting, Western, Static Electricity, Mutation, Missense, Enzyme-Linked Immunosorbent Assay, Gastroenterology and Hepatology, Biology, Molecular Genetics, Young Adult, Rheumatology, Genetic Mutation, Humans, Inflammation, [SDV.GEN]Life Sciences [q-bio]/Genetics, lcsh:R, Hereditary Autoinflammatory Diseases, HEK 293 cells, Mutation Types, Immunity, Human Genetics, Molecular biology, Genetics of Disease, lcsh:Q, Clinical Immunology

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c50472a25544ff5935f1c4574f4ef10d
https://doi.org/10.1371/journal.pone.0069757

المؤلفون: Serge Amselem, Katia Stankovic Stojanovic, Philippe Duquesnoy, Sonia Karabina, Emmanuel Grimprel, Emmanuelle Cochet, Véronique Hentgen, Gilles Grateau, Gaëlle Le Borgne, Isabelle Jéru

المساهمون: Physiopathologie des maladies génétiques d'expression pédiatrique, Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM), CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Centre de Référence des Maladies Auto-Inflammatoires et des Amyloses [CH Versailles] (CeRéMAIA - Hôpital André Mignot), Centre Hospitalier de Versailles André Mignot (CHV), Groupe de recherche clinique Amylose AA Sorbonne Université (GRC 28 - GRAASU), Sorbonne Université (SU), Service de génétique et embryologie médicales [CHU Trousseau], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Centre de Référence des Maladies Auto-Inflammatoires et des Amyloses [CHU Tenon] (CeréMAIA), CHU Tenon [AP-HP], Couvet, Sandrine

المصدر: PLoS ONE, Vol 8, Iss 7, p e68431 (2013)
PLoS ONE
PLoS ONE, 2013, 8 (7), pp.e68431. ⟨10.1371/journal.pone.0068431⟩

مصطلحات موضوعية: Heredity, Non-Clinical Medicine, [SDV]Life Sciences [q-bio], lcsh:Medicine, Familial Mediterranean fever, [SDV.GEN] Life Sciences [q-bio]/Genetics, Loss of heterozygosity, Gene Frequency, Autosomal Recessive, Genotype, Ethnicity, Prevalence, lcsh:Science, Genetics, education.field_of_study, Multidisciplinary, Statistics, MEFV, Innate Immunity, Familial Mediterranean Fever, Pedigree, [SDV] Life Sciences [q-bio], Medicine, [SDV.IMM]Life Sciences [q-bio]/Immunology, Research Article, Risk, Heterozygote, [SDV.IMM] Life Sciences [q-bio]/Immunology, Clinical Research Design, Genetic counseling, Genotypes, Immunology, Population, Gastroenterology and Hepatology, Biostatistics, Biology, Molecular Genetics, Rheumatology, medicine, Humans, Genetic Predisposition to Disease, Statistical Methods, Allele, education, Allele frequency, Alleles, Retrospective Studies, Inflammation, Clinical Genetics, [SDV.GEN]Life Sciences [q-bio]/Genetics, Health Care Policy, Siblings, lcsh:R, Immunity, Health Risk Analysis, Human Genetics, Pyrin, medicine.disease, Cytoskeletal Proteins, Mutation, Genetics of Disease, Clinical Immunology, lcsh:Q, Health Statistics, Population Genetics, Mathematics

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::96b7c02f80e96668e7093b3c186ca091
https://doi.org/10.1371/journal.pone.0068431