المؤلفون: Arienne Mirmiran, Antoine Poli, Cecile Ged, Caroline Schmitt, Thibaud Lefebvre, Hana Manceau, Raêd Daher, Boualem Moulouel, Katell Peoc'h, Sylvie Simonin, Jean-Marc Blouin, Jean-Charles Deybach, Gaël Nicolas, Hervé Puy, Emmanuel Richard, Laurent Gouya

المصدر: Haematologica, Vol 106, Iss 3 (2020)

مصطلحات موضوعية: Diseases of the blood and blood-forming organs, RC633-647.5

وصف الملف: electronic resource

Relation: https://haematologica.org/article/view/9605; https://doaj.org/toc/0390-6078; https://doaj.org/toc/1592-8721

URL الوصول: https://doaj.org/article/3018d12d818e44ffa5ca8c1e5ce3ef91

المؤلفون: Nicolas Poté, René Farcy, Hervé Puy, Fouad Lafdil, Charlotte Benoit, Jean-Charles Deybach, J. Calderaro, E. Itti, Laurent Gouya, Caroline Schmitt, Aurélie Rodrigues, Valérie Vilgrain, Sébastien Mulé, Valérie Paradis, Cécile Charpy, Alain Luciani, Sylvie Simonin

المصدر: European radiology. 32(4)

مصطلحات موضوعية: Pathology, medicine.medical_specialty, Carcinoma, Hepatocellular, Sensitivity and Specificity, Parenchyma, Biopsy, medicine, Humans, Radiology, Nuclear Medicine and imaging, Prospective Studies, Intrahepatic Cholangiocarcinomas, Neuroradiology, medicine.diagnostic_test, business.industry, Ultrasound, Liver Neoplasms, Optical Imaging, General Medicine, Autofluorescence, Bile Ducts, Intrahepatic, Bile Duct Neoplasms, Liver, Liver biopsy, Radiology, business, Ex vivo

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2295619b33b3e08716a458bd286ae15c
https://pubmed.ncbi.nlm.nih.gov/34694452

المؤلفون: Antoine Poli, Caroline Schmitt, Thibaud Lefebvre, Hana Manceau, Boualem Moulouel, Arienne Mirmiran, Katell Peoc'h, Sylvie Simonin, Hervé Puy, Vincent Oustric, Zoubida Karim, Jean-Jacques Lacapère, Jean-Charles Deybach, Hugo Lenglet, Raed Daher, Gaël Nicolas, Laurent Gouya

المساهمون: Centre de recherche sur l'Inflammation (CRI (UMR_S_1149 / ERL_8252 / U1149)), Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Centre Français des Porphyries Hôpital Louis Mourier, Université Paris Diderot - Paris 7 (UPD7), Centre de recherche biomédicale Bichat-Beaujon (CRB3), Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de Biochimie et de Biologie moléculaire, Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Université Paris Descartes - Paris 5 (UPD5)-Groupe Hospitalier Saint Louis - Lariboisière - Fernand Widal [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Faculté de Pharmacie, Centre Français des Porphyrines, Centre Français des Porphyries, Hopital Louis Mourier - AP-HP [Colombes], Génomique et Médecine Personnalisée du Cancer et des Maladies Neuropsychiatriques (GPMCND), Université de Rouen Normandie (UNIROUEN), Normandie Université (NU)-Normandie Université (NU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris Descartes - Paris 5 (UPD5)-Faculté de Pharmacie-Groupe Hospitalier Saint Louis - Lariboisière - Fernand Widal [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Hôpital Louis Mourier - AP-HP [Colombes], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)

المصدر: American Journal of Human Genetics
American Journal of Human Genetics, Elsevier (Cell Press), 2019, 104 (2), pp.341-347. ⟨10.1016/j.ajhg.2018.12.021⟩

مصطلحات موضوعية: 0301 basic medicine, Erythroblasts, Protoporphyria, Erythropoietic, [SDV]Life Sciences [q-bio], Genetic enhancement, Protoporphyrins, Antigens, CD34, Transferrin receptor, Cell-Penetrating Peptides, Ligands, medicine.disease_cause, Cell Line, 03 medical and health sciences, 0302 clinical medicine, Antigens, CD, Report, Receptors, Transferrin, Genetics, medicine, Humans, RNA, Messenger, Receptor, ComputingMilieux_MISCELLANEOUS, Genetics (clinical), Erythroid Precursor Cells, Mutation, Messenger RNA, biology, Chemistry, Genetic Therapy, Oligonucleotides, Antisense, Ferrochelatase, medicine.disease, Cell biology, 030104 developmental biology, RNA splicing, biology.protein, Erythropoietic protoporphyria, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e4802adc34cc0a201ba831d3bae76f44
https://doi.org/10.1016/j.ajhg.2018.12.021

المؤلفون: Cécile Ged, Hervé Puy, Jean-Charles Deybach, Laurent Gouya, Raed Daher, Boualem Moulouel, Arienne Mirmiran, Emmanuel Richard, Thibaud Lefebvre, Gaël Nicolas, Caroline Schmitt, Katell Peoc'h, Sylvie Simonin, Hana Manceau, Jean-Marc Blouin, Antoine Poli

المساهمون: Poli, Antoine, Centre de recherche sur l'Inflammation (CRI (UMR_S_1149 / ERL_8252 / U1149)), Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Inserm U1035, Biotherapies des Maladies Genetiques et Cancers, Universite' de Bordeaux,CHU de Bordeaux,Pole de Biologie et Pathologie, Institut National de la Santé et de la Recherche Médicale (INSERM), Centre Français des Porphyrines, Centre Français des Porphyries, Hôpital Louis Mourier - AP-HP [Colombes], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)

المصدر: Haematologica
Haematologica, In press, pp.haematol.2019.228270. ⟨10.3324/haematol.2019.228270⟩
Haematologica, Ferrata Storti Foundation, In press, pp.haematol.2019.228270. ⟨10.3324/haematol.2019.228270⟩

مصطلحات موضوعية: [SDV.MHEP.HEM] Life Sciences [q-bio]/Human health and pathology/Hematology, Pediatrics, medicine.medical_specialty, Long term treatment, Porphyria, Erythropoietic, MEDLINE, Congenital erythropoietic porphyria, [SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics, porphyrins, porphyria, 03 medical and health sciences, 0302 clinical medicine, iron, Humans, Medicine, [SDV.BBM.BC]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Biochemistry [q-bio.BM], Letters to the Editor, [SDV.BBM.BC] Life Sciences [q-bio]/Biochemistry, Molecular Biology/Biochemistry [q-bio.BM], 030304 developmental biology, 0303 health sciences, congenital erythroipoïetic porphyria, business.industry, phlebotomy, ALAS2, [SDV.MHEP.HEM]Life Sciences [q-bio]/Human health and pathology/Hematology, Hematology, Phlebotomy, [SDV.MHEP.DERM] Life Sciences [q-bio]/Human health and pathology/Dermatology, [SDV.BBM.BC]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Biomolecules [q-bio.BM], 3. Good health, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, 030220 oncology & carcinogenesis, business, [SDV.MHEP.DERM]Life Sciences [q-bio]/Human health and pathology/Dermatology

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3f182c22ab3e6ab8e57170a616c33a84
https://www.hal.inserm.fr/inserm-02441267/document

المؤلفون: Sverre Sandberg, Marta Vorland, Karen Toska, Caroline Schmitt, Sylvie Simonin, Juha P. Kallio, Helene J. Bustad, Lars Skjærven, Philippe Lettéron, Aurora Martinez, Jarl Underhaug

المساهمون: Centre Français des Porphyries, Hôpital Louis Mourier - AP-HP [Colombes], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Haukeland University Hospital, University of Bergen (UiB), Centre Français des Porphyrines, Centre de recherche biomédicale Bichat-Beaujon (CRB3), Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre de recherche sur l'Inflammation (CRI (UMR_S_1149 / ERL_8252 / U1149)), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Diderot - Paris 7 (UPD7), Department of Public Health and Primary Health Care, Hopital Louis Mourier - AP-HP [Colombes], University of Bergen (UIB)

المصدر: Molecular Therapy
Molecular Therapy, Cell Press, 2019, ⟨10.1016/j.ymthe.2019.11.010⟩
Molecular Therapy, Nature Publishing Group, 2019, ⟨10.1016/j.ymthe.2019.11.010⟩

مصطلحات موضوعية: Protein Folding, medicine.medical_treatment, Drug Evaluation, Preclinical, Liver transplantation, protein stabilization, heme synthesis, Mice, 0302 clinical medicine, Drug Discovery, Medicine, acute intermittent porphyria, Molecular Targeted Therapy, ComputingMilieux_MISCELLANEOUS, Acute intermittent porphyria, Mice, Knockout, 0303 health sciences, Autosomal dominant trait, hydroxymethylbilane synthase, 3. Good health, Pharmacological chaperone, 030220 oncology & carcinogenesis, Hepatocellular carcinoma, Molecular Medicine, Original Article, Protein stabilization, medicine.drug, Hydroxymethylbilane Synthase, Small Molecule Libraries, pharmacological chaperones, 03 medical and health sciences, Structure-Activity Relationship, [SDV.SP.MED]Life Sciences [q-bio]/Pharmaceutical sciences/Medication, Genetics, inborn error of metabolism, Animals, Humans, Molecular Biology, 030304 developmental biology, Pharmacology, business.industry, Proteins, Reproducibility of Results, medicine.disease, mouse model of AIP, Disease Models, Animal, Inborn error of metabolism, Porphyria, Acute Intermittent, Cancer research, [SDV.SP.PHARMA]Life Sciences [q-bio]/Pharmaceutical sciences/Pharmacology, business, Biomarkers, autosomal dominant disease

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a15e6d9c3687f0457d8260f8bbe7de21
https://pubmed.ncbi.nlm.nih.gov/31810863

المؤلفون: Jérôme Lamoril, Caroline Schmitt, Zoubida Karim, Gaël Nicolas, Sylvie Simonin, Enrique Casalino, Hugo Lenglet, A. M. Robreau, Jean-Charles Deybach, Thomas Grange, Hana Manceau, Florian Bouchet-Crivat, Hervé Puy, Narjesse Karboul, Laurent Gouya, Katell Peoc'h, Arienne Mirmiran

المساهمون: Laboratoire Pierre Aigrain (LPA), Université Pierre et Marie Curie - Paris 6 (UPMC)-Université Paris Diderot - Paris 7 (UPD7)-Fédération de recherche du Département de physique de l'Ecole Normale Supérieure - ENS Paris (FRDPENS), École normale supérieure - Paris (ENS Paris), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Centre National de la Recherche Scientifique (CNRS)-École normale supérieure - Paris (ENS Paris), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Centre National de la Recherche Scientifique (CNRS)-Centre National de la Recherche Scientifique (CNRS), Centre de recherche sur l'Inflammation (CRI (UMR_S_1149 / ERL_8252 / U1149)), Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Université Paris sciences et lettres (PSL), Centre Français des Porphyries, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Louis Mourier - AP-HP [Colombes], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), 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 Français des Porphyries Hôpital Louis Mourier, Université Paris Diderot - Paris 7 (UPD7), Centre Français des Porphyrines, Service urgences, AP-HP - Hôpital Bichat - Claude Bernard [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Hôpital Louis Mourier - AP-HP [Colombes], Service de Biochimie et de Biologie moléculaire, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris Descartes - Paris 5 (UPD5)-Faculté de Pharmacie-Groupe Hospitalier Saint Louis - Lariboisière - Fernand Widal [Paris], Département de Génétique et Centre de Référence Maladies Rares Syndrome de Marfan et pathologies apparentées (AP HP, hôpital Bichat), Fédération de recherche du Département de physique de l'Ecole Normale Supérieure - ENS Paris (FRDPENS), Centre National de la Recherche Scientifique (CNRS)-École normale supérieure - Paris (ENS Paris)-Centre National de la Recherche Scientifique (CNRS)-École normale supérieure - Paris (ENS Paris)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Université Paris Diderot - Paris 7 (UPD7)-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 Paris Diderot - Paris 7 (UPD7), PSL Research University (PSL), Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Hopital Louis Mourier - AP-HP [Colombes], Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Descartes - Paris 5 (UPD5), Hopital Louis Mourier - AP-HP [Colombes], Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Université Paris Descartes - Paris 5 (UPD5)-Groupe Hospitalier Saint Louis - Lariboisière - Fernand Widal [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Faculté de Pharmacie

المصدر: Human Molecular Genetics
Human Molecular Genetics, Oxford University Press (OUP), 2018, 27 (7), pp.1164-1173. ⟨10.1093/hmg/ddy030⟩

مصطلحات موضوعية: 0301 basic medicine, Male, Penetrance, [SDV.MHEP.UN]Life Sciences [q-bio]/Human health and pathology/Urology and Nephrology, MESH: Hydroxymethylbilane Synthase, MESH: Penetrance, [SDV.MHEP.MI]Life Sciences [q-bio]/Human health and pathology/Infectious diseases, Prevalence, Exome, Genetics (clinical), Acute intermittent porphyria, Genetics, education.field_of_study, MESH: Gene-Environment Interaction, Oligogenic Inheritance, [SDV.MHEP.HEM]Life Sciences [q-bio]/Human health and pathology/Hematology, General Medicine, [SDV.MHEP.EM]Life Sciences [q-bio]/Human health and pathology/Endocrinology and metabolism, 3. Good health, Hydroxymethylbilane Synthase, Female, France, Databases, Nucleic Acid, Population, Mutation, Missense, Biology, MESH: Databases, Nucleic Acid, 03 medical and health sciences, medicine, [SDV.MHEP.PHY]Life Sciences [q-bio]/Human health and pathology/Tissues and Organs [q-bio.TO], Humans, Allele, education, Molecular Biology, MESH: Prevalence, MESH: Mutation, Missense, MESH: Humans, [SDV.MHEP.HEG]Life Sciences [q-bio]/Human health and pathology/Hépatology and Gastroenterology, Heritability, medicine.disease, MESH: Porphyria, Acute Intermittent, MESH: Male, MESH: France, 030104 developmental biology, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Porphyria, Acute Intermittent, Gene-Environment Interaction, MESH: Female

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::660beae6582994fa1997a439bd1f4f8a
https://pubmed.ncbi.nlm.nih.gov/29360981

المؤلفون: Willy Dabin, Florence Caurant, Vasco Da Silva, Vincent Ridoux, Paco Bustamante, Sami Hassani, Jérôme Spitz, Lionel Lafontaine, Cécile Delcroix, Sylvie Simonin, Olivier Van Canneyt, Michel Robert, L. Meynier

المساهمون: Laboratoire de biologie et environnement marins - LBEM (LBEML), Université de La Rochelle (ULR)-Centre National de la Recherche Scientifique (CNRS), Centre de Recherche sur les Mammifères Marins (CRMM), Université de La Rochelle (ULR), Réseau SOS Loutres, Laboratoire d'Etude des Mammifères Marins (LEMM), Océanopolis [Brest], Centre Français des Porphyrines, Centre Commun d'Analyses (CCA)

المصدر: Aquatic Living Resources
Aquatic Living Resources, EDP Sciences, 2004, 17, pp.379-387. ⟨10.1051/alr:2004031⟩

مصطلحات موضوعية: 0106 biological sciences, Porphyrins, Common dolphin, Population, Mustelidae, Cetacea, 010501 environmental sciences, Aquatic Science, 01 natural sciences, Otter, biology.animal, 14. Life underwater, Mortality, Water pollution, education, Halichoerus grypus, 0105 earth and related environmental sciences, Trophic level, education.field_of_study, biology, Ecology, 010604 marine biology & hydrobiology, Oil spill, Vanadium, Pelagic zone, Bay of Biscay, biology.organism_classification, Fishery, 13. Climate action, Environmental science, Delphinus delphis, [SDV.TOX.ECO]Life Sciences [q-bio]/Toxicology/Ecotoxicology, Lutra lutra

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f61b7aa2a743be189128d9ec5c9f6f95
https://doi.org/10.1051/alr:2004031

المؤلفون: Hervé Puy, Jean Charles Deybach, L. N. Phung, V. Da Silva, Sylvie Simonin, Yves Nordmann, C. Bonaiti, A. M. Robreau

المصدر: Journal of Internal Medicine. 242:213-217

مصطلحات موضوعية: Erythrocytes, Porphobilinogen deaminase, Hydroxymethylbilane Synthase, Population, Blood Donors, Gene mutation, medicine.disease_cause, Prevalence, Internal Medicine, medicine, Humans, education, Acute intermittent porphyria, Electrophoresis, Agar Gel, Genetics, Mutation, education.field_of_study, business.industry, medicine.disease, Molecular biology, Porphyria, Porphyria, Acute Intermittent, France, business, Asymptomatic carrier

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::772afb51064ea3cea5a35957a574ebfb
https://doi.org/10.1046/j.1365-2796.1997.00189.x

المؤلفون: Jean Lesage, Pierre Collinet, Serge Mordon, Anne-Marie Gevaert, Laurie Guyon, Sylvie Simonin, Caroline Schmitt, M.O. Farine

المصدر: Photodiagnosis and photodynamic therapy. 11(3)

مصطلحات موضوعية: Pathology, medicine.medical_specialty, medicine.medical_treatment, Biophysics, Photodynamic therapy, Dermatology, Rhabdomyolysis, Peritoneal cavity, Cell Line, Tumor, Medicine, Light Dosimetry, Animals, Pharmacology (medical), Photosensitizer, Infusions, Parenteral, Peritoneal Neoplasms, Ovarian Neoplasms, Photosensitizing Agents, medicine.diagnostic_test, Dose-Response Relationship, Drug, business.industry, Aminolevulinic Acid, medicine.disease, Rats, Inbred F344, Rats, Intestinal Diseases, medicine.anatomical_structure, Treatment Outcome, Oncology, Photochemotherapy, Hexaminolevulinate, Toxicity, Female, Chemical and Drug Induced Liver Injury, business, Ovarian cancer, Liver function tests

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c911fb600243df10ba91122b07886126
https://pubmed.ncbi.nlm.nih.gov/24784431

المؤلفون: Jean Charles Deybach, Hervé Puy, Sylvie Simonin, Yves Nordmann, V. Da Silva

المصدر: Clinica Chimica Acta. 238:163-168

مصطلحات موضوعية: Adult, Oxidoreductases Acting on CH-CH Group Donors, Porphyrins, Adolescent, Variegate porphyria, Clinical Biochemistry, Fluorescence spectrometry, Biology, Biochemistry, Asymptomatic, Mitochondrial Proteins, chemistry.chemical_compound, Photosensitivity, medicine, Humans, Fluorometry, Protoporphyrinogen Oxidase, Lymphocytes, Aged, Flavoproteins, Biochemistry (medical), Porphyria, Hepatoerythropoietic, General Medicine, Middle Aged, medicine.disease, Porphyrin, Porphyria, chemistry, Protoporphyrinogen oxidase, medicine.symptom, Oxidoreductases, Asymptomatic carrier

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b6ec449547c98437db4fc69b23cd0f97
https://doi.org/10.1016/0009-8981(95)06085-r