المؤلفون: Aurelia Alimi, Jessica Taytard, Rola Abou Taam, Véronique Houdouin, Aude Forgeron, Marc Lubrano Lavadera, Pierrick Cros, Isabelle Gibertini, Jocelyne Derelle, Antoine Deschildre, Caroline Thumerelle, Ralph Epaud, Philippe Reix, Michael Fayon, Sylvie Roullaud, Françoise Troussier, Marie-Catherine Renoux, Jacques de Blic, Sophie Leyronnas, Guillaume Thouvenin, Caroline Perisson, Aimé Ravel, Annick Clement, Harriet Corvol, Nadia Nathan, for the French RespiRare® group

المصدر: Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-8 (2018)

مصطلحات موضوعية: Pulmonary hemosiderosis, Down syndrome, Children, Autoimmunity, Interstitial lung disease, Celiac disease, Medicine

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s13023-018-0806-6; https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/c6b6e78d9665403fbd463eeca61bcb2d

المؤلفون: Jérémie Rouger-Gaudichon, Eric Thébault, Arthur Félix, Aurélie Phulpin, Catherine Paillard, Aurélia Alimi, Benoît Brethon, Elodie Gouache, Sandra Raimbault, Eva de Berranger, Marilyne Poirée, Séverine Bouttefroy, Nicolas André, Virginie Gandemer, on behalf of Société Française de lutte contre les Cancers et leucémies de l’Enfant et de l’adolescent (SFCE)

المصدر: Cancers; Volume 12; Issue 11; Pages: 3398

مصطلحات موضوعية: SARS-CoV-2, COVID-19, child, neoplasm

وصف الملف: application/pdf

Relation: Cancer Epidemiology and Prevention; https://dx.doi.org/10.3390/cancers12113398

الاتاحة: https://doi.org/10.3390/cancers12113398

المؤلفون: Jean Donadieu, Aurelia Alimi, Anais Brassier, Blandine Beaupain, Camille Wicker, jean-Meidi Alili, Christine Bellanne-Chantelot, Amelie Chaussade, Martin Castelle, Mathlide Lamarque, Isabelle Plo, Lea Durix, Aude Pion, Sylvie Souquere, Caroline Marty, Pierre Simon Rohrlich, Karine Mention, Wadih Abouchahla, Marie Szymanowski, Myriam Dao, Felipe Suarez, Paola Parronchi, Boaz Palterer, Noemie Urvoy, Hélène Lapillonne, Fabrizio Andreelli, Emile Van Schaftingen, Philippe Labrune, Pascale De Lonlay, Maria Veiga Da Cunha

المصدر: Blood. 140:8320-8322

مصطلحات موضوعية: Immunology, Cell Biology, Hematology, Biochemistry

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::f908903037532ba168fa6dad1ffa8294
https://doi.org/10.1182/blood-2022-169243

المؤلفون: Elena J Tucker, Megan J Baker, Daniella H Hock, Julia T Warren, Sylvie Jaillard, Katrina M Bell, Rajini Sreenivasan, Shabnam Bakhshalizadeh, Chloe A Hanna, Nikeisha J Caruana, Saskia B Wortmann, Shamima Rahman, Robert D S Pitceathly, Jean Donadieu, Aurelia Alimi, Vincent Launay, Paul Coppo, Sophie Christin-Maitre, Gorjana Robevska, Jocelyn van den Bergen, Brianna L Kline, Katie L Ayers, Phoebe N Stewart, David A Stroud, Diana Stojanovski, Andrew H Sinclair

المساهمون: University of Melbourne, Murdoch Children's Research Institute (MCRI), Durham University, Washington University School of Medicine [Saint Louis, MO], Service de Cytogénétique et de Biologie Cellulaire, Université de Rennes (UR)-Hôpital Pontchaillou-CHU Pontchaillou [Rennes], Institut de recherche en santé, environnement et travail (Irset), Université d'Angers (UA)-Université de Rennes (UR)-École des Hautes Études en Santé Publique [EHESP] (EHESP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Royal Children's Hospital Melbourne, Victoria University [Melbourne], Paracelsus Medizinische Privatuniversität = Paracelsus Medical University (PMU), Amalia Children’s Hospital [Nijmegen, The Netherlands], Great Ormond Street Hospital for Children NHS Foundation Trust [London, UK] (GOSHC), UCL Institute of Neurology, Queen Square [London], CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), CHU de Saint-Brieuc, CHU Saint-Antoine [AP-HP], Sorbonne Université (SU), Royal Hobart Hospital, This work was supported by an National Health and Medical Research Council (NHMRC) program grant (1074258 toA.H.S.), NHMRC grant (1140906 to D.A.S.), NHMRC fellowships (1054432 to E.J.T., 1126995 to R.S., 2009732 to D.A.S., 1062854 to A.H.S.), a Suzi Carp postdoctoral scholarship (to E.J.T.), a CHU Rennes grant (Appel à Projets Innovations 2019 to S.J.), an Australian Government Research Training Program scholarship (to M.J.B.), the Australian Mito Foundation for provision of instrumentation, incubator grants (to E.J.T. and D.S.), a Booster grant (to D.S.) and PhD Top-up scholarships (to M.J.B. and D.H.H.), and a Medical Research Council (UK) Clinician Scientist Fellowship (MR/S002065/1 to R.D.S.P.). S.B.W. was funded by ERAPERMED2019-310—Personalized Mitochondrial Medicine (PerMiM): Optimizing diagnostics and treatment for patients with mitochondrial diseases (FWF 4704-B).

المصدر: Journal of Clinical Endocrinology and Metabolism, 107, 12, pp. 3328-3340
Journal of Clinical Endocrinology and Metabolism, 107, 3328-3340
Journal of Clinical Endocrinology and Metabolism
Journal of Clinical Endocrinology and Metabolism, 2022, ⟨10.1210/clinem/dgac528⟩

مصطلحات موضوعية: Proteomics, premature ovarian insufficiency, Neutropenia, [SDV]Life Sciences [q-bio], Endocrinology, Diabetes and Metabolism, primary mitochondrial disease, Biochemistry (medical), Clinical Biochemistry, Menopause, Premature, Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6], Endopeptidase Clp, Primary Ovarian Insufficiency, Biochemistry, Cataract, mitochondria, Endocrinology, Phenotype, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, CLPB, Humans, genetics, Female, infertility, Transcriptome

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7e19e3ab2117292386cfd6e43b40e1c1
https://pubmed.ncbi.nlm.nih.gov/36074910

المؤلفون: Jérôme LeGoff, Noémie Ranger, Laure Nizery, Linda Feghoul, Aurelia Alimi, Jean-Hugues Dalle, Maud Salmona, Caroline Lefeuvre, Séverine Mercier-Delarue

المصدر: J Clin Microbiol

مصطلحات موضوعية: Microbiology (medical), Paris, medicine.medical_treatment, Hematopoietic stem cell transplantation, Disease cluster, DNA sequencing, Adenoviridae, Disease Outbreaks, Adenovirus Infections, Human, Virology, Humans, Medicine, Disseminated disease, Child, Phylogeny, Whole genome sequencing, business.industry, Transmission (medicine), Adenoviruses, Human, Hematopoietic Stem Cell Transplantation, virus diseases, Hematopoietic stem cell, Outbreak, medicine.disease, eye diseases, medicine.anatomical_structure, France, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::602e4216d974af474ca4b702129050cc
https://doi.org/10.1128/jcm.03148-20

المؤلفون: Harriet Corvol, Hubert Ducou Le Pointe, Blandine Prevost, Marie-Dominique Tabone, Jérôme Rambaud, Aurelia Alimi, Aurélie Schnuriger

المصدر: Clinical Infectious Diseases. 74:938-939

مصطلحات موضوعية: Microbiology (medical), medicine.medical_specialty, ARDS, 2019-20 coronavirus outbreak, Adolescent, Coronavirus disease 2019 (COVID-19), SARS-CoV-2, business.industry, Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), COVID-19, Pneumonia, medicine.disease, Immunocompromised Host, Infectious Diseases, Pneumonia, Mycoplasma, medicine, Humans, Organizing pneumonia, Intensive care medicine, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::da76d370dc765ec4277f24b17db094f6
https://doi.org/10.1093/cid/ciab657

المؤلفون: Sophie Leyronnas, Pierrick Cros, Philippe Reix, Antoine Deschildre, Caroline Thumerelle, Harriet Corvol, Françoise Troussier, Annick Clement, Sylvie Roullaud, Jessica Taytard, Michael Fayon, Marie-Catherine Renoux, Jacques de Blic, Guillaume Thouvenin, Caroline Perisson, Isabelle Gibertini, Rola Abou Taam, Aude Forgeron, Marc Lubrano Lavadera, Ralph Epaud, Véronique Houdouin, Aurelia Alimi, Jocelyne Derelle, Nadia Nathan, Aimé Ravel

المصدر: Rare ILD/DPLD.

مصطلحات موضوعية: Autoimmune disease, medicine.medical_specialty, Down syndrome, Lung, business.industry, Interstitial lung disease, Pulmonary hemosiderosis, Hemosiderosis, Disease, medicine.disease, Gastroenterology, 03 medical and health sciences, 0302 clinical medicine, medicine.anatomical_structure, 030228 respiratory system, Internal medicine, medicine, 030212 general & internal medicine, Risk factor, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::2952ad19b0d8cfdbd93de9a5ee58467e
https://doi.org/10.1183/13993003.congress-2018.pa2237