المؤلفون: Lionel Heiser, Martin Broly, Cécile Rittore, Isabelle Touitou, Sophie Georgin-Lavialle, Guilaine Boursier

المصدر: Genes, Vol 14, Iss 10, p 1939 (2023)

مصطلحات موضوعية: hereditary recurrent fevers, high-throughput sequencing, inflammation, predictive value of tests, retrospective studies, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://www.mdpi.com/2073-4425/14/10/1939Test; https://doaj.org/toc/2073-4425Test

الوصول الحر: https://doaj.org/article/1485d7f044b64981bbc26b78ec03c518Test

المؤلفون: Cécile Rittore, Déborah Méchin, Elodie Sanchez, Léa Marinèche, Vuthy Ea, Stephan Soler, Marion Vereecke, Aude Mallavialle, Eric Richard, Isabelle Duroux-Richard, Florence Apparailly, Isabelle Touitou, Sylvie Grandemange

المصدر: Scientific Reports, Vol 11, Iss 1, Pp 1-16 (2021)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2045-2322Test

الوصول الحر: https://doaj.org/article/a4e7c6e8c75e4d73b0e1b39d5758f67aTest

المؤلفون: Guilaine Boursier, Cécile Rittore, Florian Milhavet, Laurence Cuisset, Isabelle Touitou

المصدر: Journal of Clinical Medicine, Vol 10, Iss 8, p 1552 (2021)

مصطلحات موضوعية: autoinflammatory diseases, mevalonate kinase deficiency, mevalonic aciduria, hyper-IgD syndrome, porokeratosis, phenotype–genotype correlation, Medicine

وصف الملف: electronic resource

العلاقة: https://www.mdpi.com/2077-0383/10/8/1552Test; https://doaj.org/toc/2077-0383Test

الوصول الحر: https://doaj.org/article/c477d93f31314c9bbb4b23ab2ca20e25Test

المؤلفون: Guilaine Boursier, Cécile Rittore, Sophie Georgin-Lavialle, Alexandre Belot, Caroline Galeotti, Eric Hachulla, Véronique Hentgen, Linda Rossi-Semerano, Guillaume Sarrabay, and Isabelle Touitou

المصدر: Journal of Clinical Medicine, Vol 8, Iss 10, p 1729 (2019)

مصطلحات موضوعية: autoinflammatory diseases, multidisciplinary consultation, next-generation sequencing, Medicine

وصف الملف: electronic resource

العلاقة: https://www.mdpi.com/2077-0383/8/10/1729Test; https://doaj.org/toc/2077-0383Test

الوصول الحر: https://doaj.org/article/95d8df76315e42509e1a94bbe700f56eTest

المؤلفون: Nathalie Pallares-Ruiz, Laurent Philibert, Bruno Dumont, Aurélie Fabre, Laurence Cuisset, Elodie Cointin, Cécile Rittore, Stéphan Soler, Isabelle Touitou

المصدر: PLoS ONE, Vol 5, Iss 11, p e14096 (2010)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

العلاقة: http://europepmc.org/articles/PMC2990815?pdf=renderTest; https://doaj.org/toc/1932-6203Test

الوصول الحر: https://doaj.org/article/0b4d5ae517f940c8b9ceb2ce7154d2e7Test

المؤلفون: Rima Slim, Rosemary Fisher, Florian Milhavet, Reda Hemida, Samantha Rojas, Cécile Rittore, Rashmi Bagga, Monica Aguinaga, Isabelle Touitou

المصدر: Human Mutation. 43:1732-1744

مصطلحات موضوعية: Genotype, Pregnancy, Placenta, Uterine Neoplasms, Genetics, Humans, Female, Hydatidiform Mole, Genetics (clinical), Adaptor Proteins, Signal Transducing

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2018b58487c8e0499cdec5f889899793Test
https://doi.org/10.1002/humu.24439Test

المؤلفون: Guilaine Boursier, Maryam Piram, Isabelle Touitou, Cécile Rittore, Guillaume Sarrabay

المساهمون: Département de génétique médicale, maladies rares et médecine personnalisée [CHRU Montpellier], Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Service de Rhumatologie [CHU Bicêtre], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Bicêtre, CHU Sainte Justine [Montréal], Cellules Souches, Plasticité Cellulaire, Médecine Régénératrice et Immunothérapies (IRMB), Université de Montpellier (UM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)

المصدر: Journal of Investigative Dermatology
Journal of Investigative Dermatology, Nature Publishing Group, 2021, 141 (5), pp.1141-1147. ⟨10.1016/j.jid.2020.08.028⟩

مصطلحات موضوعية: Male, 0301 basic medicine, Proband, Dermatology, Biochemistry, 03 medical and health sciences, Broad spectrum, 0302 clinical medicine, Acne Vulgaris, Humans, Medicine, Molecular Biology, Gene, Genetic Association Studies, Adaptor Proteins, Signal Transducing, Sequence (medicine), Genetics, Arthritis, Infectious, business.industry, Hereditary Autoinflammatory Diseases, Cell Biology, Pathogenicity, medicine.disease, Phenotype, Pyoderma Gangrenosum, 3. Good health, Cytoskeletal Proteins, 030104 developmental biology, 030220 oncology & carcinogenesis, Sterile arthritis, Female, business, [SDV.MHEP.DERM]Life Sciences [q-bio]/Human health and pathology/Dermatology, Pyoderma gangrenosum

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0db284bce05dd011dab90aaf9e4b4875Test
https://doi.org/10.1016/j.jid.2020.08.028Test

المؤلفون: Laurence Cuisset, Florian Milhavet, Guilaine Boursier, Isabelle Touitou, Cécile Rittore

المصدر: Journal of Clinical Medicine
Volume 10
Issue 8
Journal of Clinical Medicine, Vol 10, Iss 1552, p 1552 (2021)

مصطلحات موضوعية: hyper-IgD syndrome, phenotype–genotype correlation, lcsh:Medicine, Disseminated superficial actinic porokeratosis, Compound heterozygosity, Article, 03 medical and health sciences, 0302 clinical medicine, mevalonate kinase deficiency, medicine, 030304 developmental biology, 030203 arthritis & rheumatology, 0303 health sciences, Mevalonate kinase deficiency, biology, business.industry, Amyloidosis, Hyper-IgD syndrome, lcsh:R, Mevalonate kinase, porokeratosis, General Medicine, mevalonic aciduria, medicine.disease, autoinflammatory diseases, Mevalonic aciduria, Immunology, biology.protein, business, Porokeratosis

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::27410bfeb93bc93a9ab4718ceb03fddeTest

المؤلفون: Touria Hajri, Moncef Benkhalifa, Cécile Rittore, Claire Cozette, Jérôme Massardier, Florence Scheffler, Rosalie Cabry, François Golfier, Isabelle Touitou, Philippe Merviel, Pierre-Adrien Bolze, Jean Gondry, Melyne Lombart

المصدر: J Assist Reprod Genet

مصطلحات موضوعية: 0301 basic medicine, Adult, medicine.medical_specialty, Reproductive medicine, Context (language use), 03 medical and health sciences, 0302 clinical medicine, Molar pregnancy, Pregnancy, Neoplasms, Genetics, medicine, Humans, Assisted Reproduction Technologies, Genetics (clinical), Genetic testing, Adaptor Proteins, Signal Transducing, 030219 obstetrics & reproductive medicine, medicine.diagnostic_test, Oocyte Donation, business.industry, Obstetrics, Obstetrics and Gynecology, General Medicine, Hydatidiform Mole, medicine.disease, NLRP7, Abortion, Spontaneous, 030104 developmental biology, Reproductive Medicine, Mutation, Etiology, Female, Neoplasm Recurrence, Local, business, Live birth, Pregnancy Complications, Neoplastic, Developmental Biology

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c40cd517a19936234a9efc53c1303d94Test
https://pubmed.ncbi.nlm.nih.gov/32592075Test

المؤلفون: Mariëlle VanGijn, Florence Apparailly, Déborah Mechin, Lakhdar Boudhane, Vincent Bondet, Darragh Duffy, Yanick J. Crow, Tu-Anh Tran, Aicha Salhi, Christophe Broca, Benjamin P. Kant, Renaud Cezar, Cécile Rittore, Isabelle Touitou, Eric Richard, Guilaine Boursier, Gillian I. Rice, Sylvie Grandemange, Guillaume Sarrabay

المساهمون: Cellules Souches, Plasticité Cellulaire, Médecine Régénératrice et Immunothérapies (IRMB), Université de Montpellier (UM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Laboratoire de génétique des maladies rares. Pathologie moleculaire, etudes fonctionnelles et banque de données génétiques (LGMR), IFR3, Université Montpellier 1 (UM1)-Université Montpellier 1 (UM1)-Université de Montpellier (UM)-Institut National de la Santé et de la Recherche Médicale (INSERM), Faculté de médecine d'Alger, Université d'Alger 1 (Benyoucef Benkhedda), Imagine - Institut des maladies génétiques (IMAGINE - U1163), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), University of Manchester [Manchester], Centre Hospitalier Universitaire de Nîmes (CHU Nîmes), Immunobiologie des Cellules dendritiques, Institut Pasteur [Paris]-Institut National de la Santé et de la Recherche Médicale (INSERM), Pédiatre, University Medical Center [Utrecht], Institut de Recherche en Cancérologie de Montpellier (IRCM - U1194 Inserm - UM), CRLCC Val d'Aurelle - Paul Lamarque-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), Hôpital Lapeyronie [Montpellier] (CHU), This work was supported by the INSERM (Institut National de la Santé et Recherche Médicale), the University of Montpellier, the French Ministry of Health, the European INSAID project and E-Rare-3 program (grant no. 9003037603), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), Université Montpellier 1 (UM1)-IFR3, Université Montpellier 1 (UM1)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), Institut Pasteur [Paris] (IP)-Institut National de la Santé et de la Recherche Médicale (INSERM), Vougny, Marie-Christine

المصدر: Sarrabay, G, Méchin, D, Salhi, A, Boursier, G, Rittore, C, Crow, Y, Rice, G I, Tran, T A, Cezar, R, Duffy, D, Bondet, V, Boudhane, L, Broca, C, Kant, B P, Van Gijn, M E, Grandemange, S, Richard, E, Apparailly, F & Touitou, I 2019, ' PSMB10, the last immunoproteasome gene missing for PRAAS ', Journal of Allergy and Clinical Immunology . https://doi.org/10.1016/j.jaci.2019.11.024Test

مصطلحات موضوعية: 0301 basic medicine, [SDV.IMM] Life Sciences [q-bio]/Immunology, Protein subunit, Immunology, SAID, Biology, Nakajo-Nishimura syndrome, PSMB10, 03 medical and health sciences, immunoproteasome, 0302 clinical medicine, Immunology and Allergy, Gene, 030203 arthritis & rheumatology, Genetics, JMP, interferonopathy, 3. Good health, 030104 developmental biology, proteasome, CANDLE, Proteasome, PRAAS, Mutation (genetic algorithm), [SDV.IMM]Life Sciences [q-bio]/Immunology

وصف الملف: application/vnd.openxmlformats-officedocument.wordprocessingml.document

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1f7ddf21c798b10599e3ad48b11102b5Test
https://hal-pasteur.archives-ouvertes.fr/pasteur-02396614Test