المؤلفون: Céline Angin, Monica Mazzucato, Stefanie Weber, Kurt Kirch, Waed Abdel Khalek, Houda Ali, Sylvie Maiella, Annie Olry, Anne-Sophie Jannot, Ana Rath

المصدر: Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-9 (2024)

مصطلحات موضوعية: Rare diseases, Undiagnosed patients, Coding, ORPHAcodes, Health information systems, Diagnosis, Medicine

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1750-1172Test

الوصول الحر: https://doaj.org/article/8779247dca114d259e89e33baec1d752Test

المؤلفون: Monica Mazzucato, Laura Visonà Dalla Pozza, Paola Facchin, Cèline Angin, Francis Agius, Clara Cavero-Carbonell, Virginia Corrochano, Katerina Hanusova, Kurt Kirch, Deborah Lambert, Caterina Lucano, Sylvie Maiella, Monica Panzaru, Cristina Rusu, Stefanie Weber, Oscar Zurriaga, Miroslav Zvolsky, Ana Rath

المصدر: Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-10 (2023)

مصطلحات موضوعية: Rare diseases, Coding, Diagnoses, Orphanet, ORPHAcodes, ICD-10, Medicine

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1750-1172Test

الوصول الحر: https://doaj.org/article/92bdc030169a4604a94410a63f004f43Test

المؤلفون: Paolo Sordino, Nikos Andreakis, Euan R Brown, Nicola I Leccia, Paola Squarzoni, Raffaella Tarallo, Christian Alfano, Luigi Caputi, Palmira D'Ambrosio, Paola Daniele, Enrico D'Aniello, Salvatore D'Aniello, Sylvie Maiella, Valentina Miraglia, Monia Teresa Russo, Gerarda Sorrenti, Margherita Branno, Lucio Cariello, Paola Cirino, Annamaria Locascio, Antonietta Spagnuolo, Laura Zanetti, Filomena Ristoratore

المصدر: PLoS ONE, Vol 3, Iss 6, p e2344 (2008)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

العلاقة: http://europepmc.org/articles/PMC2391289?pdf=renderTest; https://doaj.org/toc/1932-6203Test

الوصول الحر: https://doaj.org/article/00a524f5d0c847d1ad85f031b54830cfTest

المؤلفون: Tugce B. Balci, Michael Brudno, Willie H. Chang, Annie Olry, Peter N. Robinson, Sylvie Maiella, Brittney Johnstone, Mia Husić, Sarah L. Sawyer, Pouria Mashouri, Alexander X. Lozano, Ana Rath

المصدر: Genetics in Medicine. 22:1391-1400

مصطلحات موضوعية: 0301 basic medicine, Information retrieval, business.industry, Computer science, Gold standard (test), 030105 genetics & heredity, Crowdsourcing, 03 medical and health sciences, Annotation, Identification (information), 030104 developmental biology, Documentation, Knowledge base, Similarity (psychology), Web application, business, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::fd91cdfd0cb1dfa117fbd8d0ffcc4347Test
https://doi.org/10.1038/s41436-020-0812-7Test

المؤلفون: Willie H, Chang, Pouria, Mashouri, Alexander X, Lozano, Brittney, Johnstone, Mia, Husić, Annie, Olry, Sylvie, Maiella, Tugce B, Balci, Sarah L, Sawyer, Peter N, Robinson, Ana, Rath, Michael, Brudno

المصدر: Genetics in medicine : official journal of the American College of Medical Genetics. 22(8)

مصطلحات موضوعية: Machine Learning, Phenotype, Knowledge Bases, Crowdsourcing, Humans, Students

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::404d0ebf53bb39f77286a0a62b831889Test
https://pubmed.ncbi.nlm.nih.gov/32555415Test

المؤلفون: Michael Brudno, Ana Rath, Alexander X. Lozano, Annie Olry, Tugce B. Balci, Sylvie Maiella, Sarah L. Sawyer, Peter N. Robinson, Brittney Johnstone, Pouria Mashouri, Mia Husić, Willie H. Chang

المصدر: Genetics in Medicine. 22:1427

مصطلحات موضوعية: Information retrieval, Computer science, business.industry, Published Erratum, MEDLINE, Crowdsourcing, business, Phenotype, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::eb843727ba26a01b9ff3f6c6b1feff79Test
https://doi.org/10.1038/s41436-020-0866-6Test

المؤلفون: Michael Brudno, Ana Rath, Helen Parkinson, Tudor Groza, Marc Hanauer, Sebastian Köhler, Simon Jupp, Charlotte Rodwell, Dominik Seelow, Halima Lourghi, Sylvie Maiella, Valérie Lanneau, Annie Olry, Peter N. Robinson, Bruno Donadille

المصدر: European journal of medical genetics. 61(11)

مصطلحات موضوعية: 0301 basic medicine, Databases, Factual, Interoperability, Computational Biology, Biological Ontologies, General Medicine, Ontology (information science), Data science, 3. Good health, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Resource (project management), Phenomics, Phenotype, Rare Diseases, Controlled vocabulary, Human Phenotype Ontology, Genetics, Humans, Exome, 030217 neurology & neurosurgery, Genetics (clinical), Software

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e2dc2a69fbea71a1ff99ef711eb99e86Test
https://pubmed.ncbi.nlm.nih.gov/29425702Test

المؤلفون: Marcella Fiengo, Rita Marino, Takashi Kondo, Sylvie Maiella, Antonio Emidio Fortunato, Fernanda Langellotto, Raffaella De Paolo, Stephen W. Wilson, Giulia Fasano, Filomena Ristoratore, Lorella M.T. Canzoniero, Valeria Nittoli, Alessandra Gentile, Paolo Sordino, Ugo Coppola, Francesco Aniello, Aldo Donizetti, Denis Duboule, Immacolata Porreca

المساهمون: Nittoli, V., Fortunato, A. E., Fasano, G., Coppola, U., Gentile, A., Maiella, S., Langellotto, F., Porreca, I., De Paolo, R., Marino, R., Fiengo, M., Donizetti, A., Aniello, F., Kondo, T., Ristoratore, F., Canzoniero, L. M. T., Duboule, D., Wilson, S. W., Sordino, P.

المصدر: Gene: X, Vol 2, Iss, Pp-(2019)
Gene X

مصطلحات موضوعية: 0301 basic medicine, Ce, cerebellum, Mutant, CNE, conserved non-coding elements, OP, olfactory placode, HM, hybridization mix, 0302 clinical medicine, CaP, caudal primary motor neuron axons, VLP, ventro-lateral-posterior, Ey, eye, Gene duplication, No, notochord, fss, fused-somites, TSGD, FB, forebrain, Zebrafish, OT, optic tectum, CRM, cis-regulatory module, Di, diencephalon, CAMP, conserved ancestral microsyntenic pairs, Signaling pathway, Ace, acerebellar, PSM, presomitic mesoderm, CS, Corpuscle of Stannius, General Medicine, YE, yolk extension, Cell biology, ptc, patched, Te, telencephalon, 030220 oncology & carcinogenesis, PA, pharyngeal arches, embryonic structures, Shh, sonic hedgehog, syu, sonic-you, WISH, whole-mount in situ hybridization, yot, you-too, HB, hindbrain, Hy, hypothalamus, animal structures, lcsh:QH426-470, SC, spinal cord, MO, morpholino, Development, Biology, Elfn1, Extracellular Leucine Rich Repeat And Fibronectin Type III Domain Containing 1, Synteny, Uncx, Article, 03 medical and health sciences, Flh, floating head, Mical, molecule interacting with CasL, Th, thalamus, Yo, yolk, Genetics, Gene, Transcription factor, Messenger RNA, fungi, biology.organism_classification, cyc, cyclops, FGF, fibroblast growth factor, lcsh:Genetics, smu, slow-muscle-omitted, 030104 developmental biology, TSGD, teleost-specific genome duplication, So, somites, Homeobox, AP, antero-posterior, hpf, hours post fertilization, WIHC, whole-mount immunohistochemistry

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7eb6fca69c1e7c12dac8cc68fb4c4334Test
https://doi.org/10.1016/j.gene.2019.100011Test

المؤلفون: Matthieu Carrière, Brice Targat, Arndt Benecke, Lars Rogge, Laurence Weiss, Sylvie Maiella, Vladimira Donkova-Petrini, Yves Levy, Fabrice A. Letimier

المساهمون: Service d'immunologie [HEGP, Paris], Hôpital Européen Georges Pompidou [APHP] (HEGP), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO), Régulation des Infections Rétrovirales, Institut Pasteur [Paris], Institut Mondor de Recherche Biomédicale (IMRB), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12)-IFR10, Immunorégulation, Institut Pasteur [Paris]-Centre National de la Recherche Scientifique (CNRS), Institut des Hautes Etudes Scientifiques (IHES), IHES, Service d'immunologie clinique [Créteil], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Henri Mondor-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), F.A.L. and S.M. were supported by predoctoral fellowships from the ANRS and the Ligue Nationale Contre le Cancer, respectively. M.C. has received a post-doctoral fellowship from the ANRS. V.D.P. was supported by Sidaction. Work in L.W.'s laboratory was supported by funds from ANRS and Sidaction. Work in L.R.'s laboratory was supported by funds from Sidaction, the European Community (LSHG-CT-2005-005203 'MUGEN'), and institutional funds from Institut Pasteur (GPH n°2), Guellaen, Georges, Institut Pasteur [Paris] (IP), Institut National de la Santé et de la Recherche Médicale (INSERM)-IFR10-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Institut Pasteur [Paris] (IP)-Centre National de la Recherche Scientifique (CNRS), Institut des Hautes Études Scientifiques (IHES)

المصدر: Proceedings of the National Academy of Sciences of the United States of America
Proceedings of the National Academy of Sciences of the United States of America, National Academy of Sciences, 2010, 107 (23), pp.10632-7. ⟨10.1073/pnas.1000027107⟩
Proceedings of the National Academy of Sciences of the United States of America, 2010, 107 (23), pp.10632-7. ⟨10.1073/pnas.1000027107⟩

مصطلحات موضوعية: Interleukin 2, Regulatory T cell, T cell, HIV Infections, chemical and pharmacologic phenomena, Biology, Lymphocyte Activation, T-Lymphocytes, Regulatory, 03 medical and health sciences, Interleukin 21, 0302 clinical medicine, [SDV.BBM] Life Sciences [q-bio]/Biochemistry, Molecular Biology, medicine, Humans, [SDV.BBM]Life Sciences [q-bio]/Biochemistry, Molecular Biology, IL-2 receptor, Interleukin-7 receptor, Immunodeficiency, Cell Proliferation, 030304 developmental biology, 0303 health sciences, Multidisciplinary, Gene Expression Profiling, Interleukin-2 Receptor alpha Subunit, FOXP3, hemic and immune systems, Biological Sciences, medicine.disease, Immunity, Innate, 3. Good health, medicine.anatomical_structure, Immunology, Disease Progression, Interleukin-2, 030215 immunology, medicine.drug

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::507ac73220beaf82fe43fddca402cb32Test
https://doi.org/10.1073/pnas.1000027107Test

المؤلفون: Christophe Bécavin, Arndt Benecke, Aliénor Xhaard, Gérard Socié, Yuanyu Pang, Jérôme Larghero, Lynn Wenandy, Shen Dong, Elisabetta Bianchi, Sylvie Maiella, Lars Rogge

المساهمون: Expression des Gènes et comportement adaptatifs = Molecular Genetics, Neurophysiology and Behavior (NPS-15), Neuroscience Paris Seine (NPS), Centre National de la Recherche Scientifique (CNRS)-Institut de Biologie Paris Seine (IBPS), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Centre National de la Recherche Scientifique (CNRS)-Institut de Biologie Paris Seine (IBPS), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Pierre et Marie Curie - Paris 6 (UPMC), Ligue Nationale Contre le Cancer, Marie Curie Intra European Fellowship within the 7th European Community Framework Programme, Fondation Association pour la Recherche sur le Cancer, Cantarini-Pasteur, Agence Nationale de Recherches sur le Sida, Agence Nationale de Recherche (ANR-GENOPAT), Agence Nationale de Recherche (ANR-PHYSIO), Comite 75 from the Ligue Nationale Contre le Cancer, Institut Pasteur, Neurosciences Paris Seine (NPS), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut de Biologie Paris Seine (IBPS), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Centre National de la Recherche Scientifique (CNRS)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut de Biologie Paris Seine (IBPS), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Centre National de la Recherche Scientifique (CNRS), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut de Biologie Paris Seine (IBPS), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut de Biologie Paris Seine (IBPS), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)

المصدر: Blood
Blood, American Society of Hematology, 2013, 122 (10), pp.1802-1812. ⟨10.1182/blood-2013-02-482539⟩
Blood, 2013, 122 (10), pp.1802-1812. ⟨10.1182/blood-2013-02-482539⟩

مصطلحات موضوعية: Adult, Regulatory T cell, medicine.medical_treatment, Immunology, Graft vs Host Disease, chemical and pharmacologic phenomena, Hematopoietic stem cell transplantation, Biology, T-Lymphocytes, Regulatory, Biochemistry, 03 medical and health sciences, 0302 clinical medicine, Interferon, medicine, Homeostasis, Humans, Transplantation, Homologous, 030304 developmental biology, 0303 health sciences, Gene Expression Profiling, Inside BLOOD, Hematopoietic Stem Cell Transplantation, FOXP3, Forkhead Transcription Factors, hemic and immune systems, HLA-DR Antigens, Cell Biology, Hematology, medicine.disease, Cytokine, Graft-versus-host disease, medicine.anatomical_structure, Acute Disease, CD4 Antigens, Cytokines, Leukocyte Common Antigens, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Single-Cell Analysis, human activities, Reprogramming, 030215 immunology, Homing (hematopoietic), medicine.drug

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dcf5839452ae5480a16b90a26274750eTest
https://hal.archives-ouvertes.fr/hal-01544151Test