Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Loïc Le Mignot"'
Autor:
Marc Tardieu, Lilia Ben Slama, François Rivier, Nizar Mahlaoui, Karine Nguyen, Alain Fischer, Bruno Delobel, Marianne Debré, Dominique Stoppa-Lyonnet, Thierry Billette de Villemeur, Jérôme Couturier, Felipe Suarez, Yves Bertrand, Louis Vallée, Catherine Dubois d'Enghien, Olivier Hermine, Julien Beauté, Anthony Laugé, Jean-Michel Pedespan, Fanny Lanternier, Jean-Louis Stephan, Despina Moshous, Michel Koenig, Pierre Bordigoni, Stéphane Blanche, Caroline Thomas, Janet Hall, Bénédicte Neven, Isabelle Pellier, Capucine Picard, Nathalie Aladjidi, Romain Micol, Loïc Le Mignot
Publikováno v:
The Journal of allergy and clinical immunology. 128(2)
Ataxia-telangiectasia (A-T) is a rare genetic disease caused by germline biallelic mutations in the ataxia-telangiectasia mutated gene (ATM) that result in partial or complete loss of ATM expression or activity. The course of the disease is character
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bf54f43d239a50604106c0baa99ca3a9
https://pubmed.ncbi.nlm.nih.gov/21665257
https://pubmed.ncbi.nlm.nih.gov/21665257
Autor:
Paul, Landais, Claude, Messiaen, Ana, Rath, Loïc, Le Mignot, Eric, Dufour, Mohamed, Ben Said, Jean-Philippe, Jais, Laurent, Toubiana, Geneviève, Baujat, Eva, Bourdon-Lanoy, Marion, Gérard-Blanluet, Christine, Bodemer, Rémi, Salomon, Ségolène, Aymé, Martine, Le Merrer, Alain, Verloes
Publikováno v:
Studies in health technology and informatics. 160(Pt 1)
Rare diseases cover a group of conditions characterized by a low prevalence, affecting less than 1 in 2,000 people; 5000 to 7000 rare diseases have been currently identified in Europe. Most diseases do not have any curative treatment. They represent
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::af61a5184648b598e021c005aa74a4a9
https://pubmed.ncbi.nlm.nih.gov/20841733
https://pubmed.ncbi.nlm.nih.gov/20841733
Autor:
Olivier Hermine, Julien Beauté, Olivier Lortholary, Fanny Lanternier, Richard Mouy, Marie-Anne Gougerot-Pocidalo, Stéphane Blanche, Marc Lecuit, Marie-Elisabeth Bougnoux, Gaelle Obenga, Felipe Suarez, Nizar Mahlaoui, Alain Fischer, Vincent Barlogis, Loïc Le Mignot
Publikováno v:
The Pediatric infectious disease journal. 30(1)
BACKGROUND Chronic granulomatous disease (CGD) is a rare inherited phagocytic disorder resulting in an increased susceptibility to infections including invasive fungal diseases (IFDs) and inflammatory complications. This study is aimed at assessing t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c26ea6bf601d4a6e2313bf4b2f321e15
https://pubmed.ncbi.nlm.nih.gov/20700078
https://pubmed.ncbi.nlm.nih.gov/20700078
Autor:
Marion Gérard-Blanluet, Jean-Baptiste Richard, Jean-Philippe Jais, Geneviève Baujat, Rémi Salomon, S Aymé, Paul Landais, Christine Bodemer, Mohamed Ben Saïd, Eva Bourdon-Laney, Loïc Le Mignot, Alain Verloes, Ana Rath, Claude Messiaen, Martine Le Merrer, Eric Dufour
Publikováno v:
Informatique et Santé ISBN: 9782287993046
A rare disease is a condition the prevalence of which is lower than 5 cases per 10,000 inhabitants. At least 7000 rare disease have been discovered. in France, rare diseases affect nearly 30,000 patients and often only few cases for a given disease.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::1f376b8cbe3c3f557b8085da85d96dcc
https://doi.org/10.1007/978-2-287-99305-3_25
https://doi.org/10.1007/978-2-287-99305-3_25
Autor:
Claude, Messiaen, Loïc, Le Mignot, Ana, Rath, Jean-Baptiste, Richard, Eric, Dufour, Mohamed, Ben Said, Jean-Philippe, Jais, Alain, Verloes, Martine, Le Merrer, Christine, Bodemer, Geneviève, Baujat, Marion, Gerard-Blanluet, Eva, Bourdon-Lanoy, Rémi, Salomon, Ségolène, Ayme, Paul, Landais
Publikováno v:
Studies in health technology and informatics. 136
Rare diseases include a group of conditions characterized by a prevalence lower than 5 per 10,000 in the community. In France, any rare disease affects less than 30,000 patients and often much less. Three to 4% of children and 6% of the population in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::281c48b98c4798474c9d95f042bd8b9d
https://pubmed.ncbi.nlm.nih.gov/18487707
https://pubmed.ncbi.nlm.nih.gov/18487707
Autor:
Richard, Jean-Baptiste, Laurent, Toubiana, Loïc, Le Mignot, Mohamed, Ben Said, Claude, Mugnier, Christine, Le Bihan-Benjamin, Jean Philippe, Jaïs, Paul, Landais
Publikováno v:
AMIA ... Annual Symposium proceedings. AMIA Symposium.
This Web-based application allows to access views of End-Stage Renal Disease (ESRD) concerning the epidemiology of the demand and the supply of care. It is a Web-based Geographic Information System (Web-GIS), the SIGNe (Système d'Information Géogra
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::f71745b6b7dbc748255f9648d6eade11
https://pubmed.ncbi.nlm.nih.gov/16779063
https://pubmed.ncbi.nlm.nih.gov/16779063
Autor:
Sophie Hilpert, Julien Beauté, Loïc Le Mignot, Eric Oksenhendler, Jean Donadieu, Nathalie de Vergnes, Olivier Hermine, Paul Landais, Felipe Suarez, Marc Lecuit, Nizar Mahlaoui, Yasmine Dudoit, Gaelle Obenga, Alain Fischer, Capucine Picard, Olivier Lortholary, Romain Micol
Publikováno v:
ResearcherID
Abstract 1391 Poster Board I-413 Background: Primary immunodeficiency diseases (PID) encompass more than 200 different rare diseases that share at least two characteristics, inheritance and increased susceptibility to infections. The mechanisms imply
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a501404786d0763d6dcbafab96103596
https://doi.org/10.1182/blood.v114.22.1391.1391
https://doi.org/10.1182/blood.v114.22.1391.1391