المؤلفون: Patrick R. Benusiglio, Sophie Gad, Christophe Massard, Edith Carton, Elisabeth Longchampt, Tiffany Faudot, Jérôme Lamoril, Sophie Ferlicot

المصدر: F1000Research, Vol 3 (2014)

مصطلحات موضوعية: Multiple Endocrine Disorders & Neoplasias, Thyroid, Medicine, Science

وصف الملف: electronic resource

العلاقة: http://f1000research.com/articles/3-159/v1Test; https://doaj.org/toc/2046-1402Test

الوصول الحر: https://doaj.org/article/e6fc9c8ef7e2418da70d4401ebd9d3eaTest

المؤلفون: Christophe Bontoux MD, Alice Guyard MD, Audrey Lupo MD, PhD, Karim Diallo MSc, Khedidja Rebah MD, Agathe Hercent MD, Edouard Guenzi MD, Jérome Cros MD, PhD, Jérome Lamoril MD, Karen Leroy PharmD, PhD, Nathalie Theou-Anton PharmD, PhD

المصدر: Cancer Control, Vol 30 (2023)

مصطلحات موضوعية: Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282

العلاقة: https://doi.org/10.1177/10732748231167257Test; https://doaj.org/toc/1526-2359Test; https://doaj.org/article/f0703602648c4d0ab577fb36948d1780Test

الإتاحة: https://doi.org/10.1177/10732748231167257Test
https://doaj.org/article/f0703602648c4d0ab577fb36948d1780Test

المؤلفون: Edouard Guenzi, Johan Pluvy, Alice Guyard, Marina Nguenang, Khedidja Rebah, Zoubida Benrahmoune, Jérome Lamoril, Aurelie Cazes, Valérie Gounant, Solenn Brosseau, Catherine Boileau, Gérard Zalcman, Nathalie Théou-Anton

المصدر: ERJ Open Research, Vol 7, Iss 1 (2021)

مصطلحات موضوعية: Medicine

العلاقة: http://openres.ersjournals.com/content/7/1/00582-2020.fullTest; https://doaj.org/toc/2312-0541Test; https://doaj.org/article/bb8ecf573e804d7aace77593ea44ef2aTest

الإتاحة: https://doi.org/10.1183/23120541.00582-2020Test
https://doaj.org/article/bb8ecf573e804d7aace77593ea44ef2aTest

المؤلفون: Jérôme Lamoril, Dimitri Tchernitchko, Robert J. Desnick, Charles J. Parker, Hervé Puy, Laurent Gouya, Brenden Chen, Zoubida Karim, Gaël Nicolas, Colin P. Farrell, John D. Phillips

المساهمون: Laboratoire d'Excellence : Biogenèse et pathologies du globule rouge (Labex Gr-Ex), Université Paris Diderot - Paris 7 (UPD7)-Université Sorbonne Paris Cité (USPC)-Institut National de la Santé et de la Recherche Médicale (INSERM), Laboratory of Excellence Gr-Ex (Labex Gr-Ex) and the Institut National de la Santé et de la Recherche Medicale (INSERM).The Labex GR-Ex is funded by the program 'Investissements d’avenir' of the French National Research Agency, reference ANR-11-IDEX-0005-02.

المصدر: Blood Advances
Blood Advances, The American Society of Hematology, 2021, ⟨10.1182/bloodadvances.2021005484⟩

مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, acute hepatic porphyria, Protoporphyria, Erythropoietic, erythropoietic protoporphyria, Variegate porphyria, Biology, Mice, Porphyrias, 03 medical and health sciences, chemistry.chemical_compound, medicine, Animals, Humans, [SDV.BBM.BC]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Biochemistry [q-bio.BM], heme, skin and connective tissue diseases, Heme, 030304 developmental biology, Acute intermittent porphyria, Mice, Knockout, Genetics, 0303 health sciences, Genetic heterogeneity, 030305 genetics & heredity, nutritional and metabolic diseases, Porphobilinogen Synthase, [SDV.MHEP.HEG]Life Sciences [q-bio]/Human health and pathology/Hépatology and Gastroenterology, [SDV.BBM.BM]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Molecular biology, [SDV.MHEP.HEM]Life Sciences [q-bio]/Human health and pathology/Hematology, Hematology, [SDV.MHEP.EM]Life Sciences [q-bio]/Human health and pathology/Endocrinology and metabolism, ABCB6, medicine.disease, Penetrance, Porphyrias, Hepatic, 3. Good health, Hereditary coproporphyria, Porphyria, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, chemistry, ATP-Binding Cassette Transporters, Erythropoietic protoporphyria, [SDV.AEN]Life Sciences [q-bio]/Food and Nutrition

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::753451bc93ec27ff7add75d9ba25f4deTest
https://doi.org/10.1182/bloodadvances.2021005484Test

المؤلفون: Adrien Borgel, Jérôme Lamoril, Raphael Yao, Dimitri Tchernitchko, Catherine Boileau, Christian de Gennes, Camille Boi

المصدر: British Journal of Haematology. 196

مصطلحات موضوعية: business.industry, Regulator, Medicine, Hematology, business, ALAS2, Aminolevulinate synthase, Homeostasis, Cell biology

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::5558d4cd56a5b7253d810a86724bb906Test
https://doi.org/10.1111/bjh.17810Test

المؤلفون: Dimitri Tchernitchko, Jérôme Lamoril

المصدر: European journal of gastroenterologyhepatology. 33(7)

مصطلحات موضوعية: Iron Overload, Hepatology, business.industry, Bone Morphogenetic Protein 6, Gastroenterology, Gene mutation, Bioinformatics, Bone morphogenetic protein 6, Text mining, Hepcidins, Mutation, Medicine, Humans, In patient, business, Hemochromatosis Protein

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::52a9c29d6d8d4bd785be37a732d46d34Test
https://pubmed.ncbi.nlm.nih.gov/34037557Test

المؤلفون: Dimitri Tchernitchko, Jérôme Lamoril, Adrien Borgel

المصدر: Clinics and Research in Hepatology and Gastroenterology. 44:239-241

مصطلحات موضوعية: Male, TMPRSS6, Iron Overload, Polymorphism, Genetic, Hepatology, business.industry, Gastroenterology, Middle Aged, Bioinformatics, Mutation, Humans, Medicine, Female, Hemochromatosis, HAMP, Hemochromatosis Protein, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::728a17965e885ee60f4a933b91c60ec3Test
https://doi.org/10.1016/j.clinre.2019.09.007Test

المؤلفون: Dimitri Tchernitchko, Laurent Gouya, Said Lyoumi, Nicolas Pallet, Jérôme Lamoril, Caroline Schmitt, Quentin Tavernier, Hervé Puy, Eric Thervet, Alexandre Karras, Neila Talbi, Zoubida Karim, A. M. Robreau

المصدر: Journal of the American Society of Nephrology. 28:1924-1932

مصطلحات موضوعية: Male, 0301 basic medicine, medicine.medical_specialty, Genotype, Renal function, Severity of Illness Index, Porphyrias, 03 medical and health sciences, 0302 clinical medicine, Clinical Research, Internal medicine, medicine, Humans, Renal Insufficiency, Chronic, Aged, Acute intermittent porphyria, Symporters, business.industry, Reabsorption, General Medicine, Odds ratio, Middle Aged, Prognosis, medicine.disease, 030104 developmental biology, Porphyria, Endocrinology, Nephrology, Acute Disease, Female, business, Complication, 030217 neurology & neurosurgery, Kidney disease

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::34d91536bdba01aa1c6949b440da7a66Test
https://doi.org/10.1681/asn.2016080918Test

المؤلفون: Jérôme Lamoril, Marc Bogard

المصدر: Annales de biologie clinique. 74:29-54

مصطلحات موضوعية: medicine.medical_specialty, media_common.quotation_subject, Genetic Counseling, Choice Behavior, Risk Assessment, Commercialization, Globalization, Human health, State (polity), Predictive Value of Tests, medicine, Humans, Genetic Testing, Medical prescription, Marketing, Genetic testing, media_common, Informed Consent, medicine.diagnostic_test, Genome, Human, Public health, Genomics, General Medicine, Multinational corporation, Personal Autonomy, France, Business, Attitude to Health

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f6299ddd5d84342c55d17947cb0dcd17Test
https://doi.org/10.1684/abc.2015.1108Test

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

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::660beae6582994fa1997a439bd1f4f8aTest
https://pubmed.ncbi.nlm.nih.gov/29360981Test