المؤلفون: Danièle, Dubois-Laforgue, Erika, Cornu, Cécile, Saint-Martin, Joël, Coste, Christine, Bellanné-Chantelot, José, Timsit

المصدر: Diabetes care. 41(1)

مصطلحات موضوعية: Adult, Phenotype, Diabetes Mellitus, Type 2, Genotype, Mutation, Humans, Prognosis, Genetic Association Studies, Hepatocyte Nuclear Factor 1-beta

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::72e054fc7b998b10967189b4563095afTest
https://pubmed.ncbi.nlm.nih.gov/29263197Test

المؤلفون: Erika Cornu, Joël Coste, José Timsit, Danièle Dubois-Laforgue, Christine Bellanné-Chantelot, Cécile Saint-Martin

المصدر: Diabetes Care. 41:e8-e9

مصطلحات موضوعية: Advanced and Specialized Nursing, medicine.medical_specialty, business.industry, Endocrinology, Diabetes and Metabolism, medicine.medical_treatment, 030232 urology & nephrology, Renal function, 030209 endocrinology & metabolism, medicine.disease, HNF1B, Phenotype, Gastroenterology, Transplantation, 03 medical and health sciences, Hepatocyte nuclear factors, 0302 clinical medicine, Diabetes mellitus, Internal medicine, Genotype, Internal Medicine, medicine, business, Dialysis

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::27882bc087e9662b2f893f1b25f48850Test
https://doi.org/10.2337/dci17-0048Test

المؤلفون: Erik Ilsø Christensen, Danièle Dubois-Laforgue, Eric Olinger, Olivier Devuyst, Pierre J. Courtoy, Jean-Philippe Lengelé, Renata Kozyraki, Sara Terryn, Marco Pontoglio, Serge Garbay, Patrick Van Der Smissen, José Timsit, Christine Bellanné-Chantelot, Karo Tanaka

المساهمون: University of Zurich, Devuyst, Olivier

المصدر: Terryn, S, Tanaka, K, Lengelé, J-P, Olinger, E, Dubois-Laforgue, D, Garbay, S, Kozyraki, R, Van Der Smissen, P, Christensen, E I, Courtoy, P J, Bellanné-Chantelot, C, Timsit, J, Pontoglio, M & Devuyst, O 2016, ' Tubular proteinuria in patients with HNF1α mutations : HNF1α drives endocytosis in the proximal tubule ', Kidney International. Supplement, vol. 89, no. 5, pp. 1075-89 . https://doi.org/10.1016/j.kint.2016.01.027Test
Kidney Int

مصطلحات موضوعية: Male, 0301 basic medicine, Endocytic cycle, 030204 cardiovascular system & hematology, 10052 Institute of Physiology, Kidney Tubules, Proximal, 0302 clinical medicine, Diabetic Nephropathies, Hepatocyte Nuclear Factor 1-alpha, Promoter Regions, Genetic, Cells, Cultured, Mice, Knockout, 2727 Nephrology, Transfection, Middle Aged, LRP2, Endocytosis, 3. Good health, Cell biology, Low Density Lipoprotein Receptor-Related Protein-2, Proteinuria, Hepatocyte nuclear factors, Phenotype, Tubular proteinuria, Nephrology, Female, Signal Transduction, Adult, Adolescent, Receptors, Cell Surface, 610 Medicine & health, Biology, Young Adult, 03 medical and health sciences, Downregulation and upregulation, Animals, Humans, Genetic Predisposition to Disease, Aged, Binding Sites, Cubilin, Mice, Inbred C57BL, 030104 developmental biology, Diabetes Mellitus, Type 2, Gene Expression Regulation, Case-Control Studies, Mutation, 570 Life sciences, biology

وصف الملف: 1-s2.0-S0085253816003239-main.pdf - application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::84c615296dfc5a1bdea5efbddc7762f0Test
https://www.zora.uzh.ch/id/eprint/133262Test/

المؤلفون: Christine, Bellanné-Chantelot, David Joseph, Lévy, Claire, Carette, Cécile, Saint-Martin, Jean-Pierre, Riveline, Etienne, Larger, René, Valéro, Jean-François, Gautier, Yves, Reznik, Agnès, Sola, Agnès, Hartemann, Sandrine, Laboureau-Soares, Marie, Laloi-Michelin, Pierre, Lecomte, Lucy, Chaillous, Danièle, Dubois-Laforgue, José, Timsit, G, Velho

المساهمون: CHU Saint-Antoine [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Institut Cochin (IC UM3 (UMR 8104 / U1016)), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), CHU Pitié-Salpêtrière [AP-HP], Centre de Recherche des Cordeliers (CRC), Université Pierre et Marie Curie - Paris 6 (UPMC)-École Pratique des Hautes Études (EPHE), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Université Paris Diderot - Paris 7 (UPD7)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Department of diabetes and endocrinology, Centre Hospitalier Sud Francilien, Angiogénèse embryonnaire et pathologique, Université Pierre et Marie Curie - Paris 6 (UPMC)-Centre interdisciplinaire de recherche en biologie (CIRB), Labex MemoLife, École normale supérieure - Paris (ENS-PSL), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Collège de France (CdF (institution))-Ecole Superieure de Physique et de Chimie Industrielles de la Ville de Paris (ESPCI Paris), Université Paris sciences et lettres (PSL)-École normale supérieure - Paris (ENS-PSL), Université Paris sciences et lettres (PSL)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Labex MemoLife, Université Paris sciences et lettres (PSL)-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), Université Paris Descartes - Paris 5 (UPD5), Service Nutrition, Maladies Metaboliques, Endocrinologie, Assistance Publique - Hôpitaux de Marseille (APHM), Centre de Recherche des Cordeliers (CRC (UMR_S_1138 / U1138)), École Pratique des Hautes Études (EPHE), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Université Paris Diderot - Paris 7 (UPD7)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Unité sous contrat aromatase et oestrogènes dans les gonades des mammifères, Université de Caen Normandie (UNICAEN), Normandie Université (NU)-Normandie Université (NU)-Institut National de la Recherche Agronomique (INRA), Centre Hospitalier Universitaire (CHU), Stress Oxydant et Pathologies Métaboliques (SOPAM), Université d'Angers (UA)-Institut National de la Santé et de la Recherche Médicale (INSERM), Hôpital Lariboisière-Fernand-Widal [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Université de Liège, Immuno-Endocrinologie Cellulaire et Moléculaire (IECM), Institut National de la Recherche Agronomique (INRA)-Université de Nantes (UN)-Ecole Nationale Vétérinaire de Nantes-École nationale vétérinaire, agroalimentaire et de l'alimentation Nantes-Atlantique (ONIRIS), Clinique d'endocrinologie, Université Sorbonne Paris Cité (USPC), Service de diabétologie [CHU Cochin], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Cochin [AP-HP], Hôpital Cochin [AP-HP], Centre National de la Recherche Scientifique (CNRS)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Université Paris Diderot - Paris 7 (UPD7)-École pratique des hautes études (EPHE), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), CH Evry-Corbeil-CH Evry-Corbeil, École normale supérieure - Paris (ENS Paris), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Ecole Superieure de Physique et de Chimie Industrielles de la Ville de Paris (ESPCI Paris), Université Paris sciences et lettres (PSL)-Collège de France (CdF (institution))-École normale supérieure - Paris (ENS Paris), Université Paris sciences et lettres (PSL)-Collège de France (CdF (institution))-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Labex MemoLife, Université Paris sciences et lettres (PSL)-Collège de France (CdF (institution))-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut National de la Santé et de la Recherche Médicale (INSERM), École pratique des hautes études (EPHE), Ecole Nationale Vétérinaire de Nantes-Université de Nantes (UN)-Institut National de la Recherche Agronomique (INRA)

المصدر: Journal of Clinical Endocrinology and Metabolism
Journal of Clinical Endocrinology and Metabolism, 2011, 96 (8), pp.1346-1351. ⟨10.1210/jc.2011-0268⟩
Journal of Clinical Endocrinology and Metabolism, Endocrine Society, 2011, 96 (8), pp.1346-1351. ⟨10.1210/jc.2011-0268⟩

مصطلحات موضوعية: Adult, Genetic Markers, Male, medicine.medical_specialty, Multivariate analysis, Adolescent, [SDV]Life Sciences [q-bio], Endocrinology, Diabetes and Metabolism, Clinical Biochemistry, Age at diagnosis, 030209 endocrinology & metabolism, Context (language use), 030204 cardiovascular system & hematology, Biochemistry, Maturity onset diabetes of the young, Diagnosis, Differential, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, Internal medicine, Diabetes mellitus, medicine, Humans, Genetic Testing, Hepatocyte Nuclear Factor 1-alpha, Age of Onset, Child, Aged, Retrospective Studies, 2. Zero hunger, business.industry, Biochemistry (medical), Middle Aged, medicine.disease, 3. Good health, HNF1A, Phenotype, Diabetes Mellitus, Type 2, Multicenter study, Child, Preschool, Female, Differential diagnosis, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e07796d77be0a1df7ad7e347c2f0b764Test
https://doi.org/10.1210/jc.2011-0268Test

المؤلفون: Marie Laloi-Michelin, S. Casanova, J. Cahen-Varsaux, José Timsit, O. Dupuy, E. Kaloustian, Guillaume Charpentier, F. Olivier, A. Lecleire-Collet, T. Meas, Eric Bertin, Pascale Massin, Bernard Vialettes, F. Lorenzini, Bruno Guerci, M. Virally, A. Grimaldi, P. Chedin, Danièle Dubois-Laforgue, H. Gin, Béatrice Bouhanick, C. Bellanné-Chantelot, A. Murat, Pierre-Jean Guillausseau, M Vincenot, Véronique Paquis-Flucklinger, J.-F. Blickle, H. Narbonne, Bernard Bauduceau

المصدر: Diabetologia. 51:1664-1670

مصطلحات موضوعية: medicine.medical_specialty, Mitochondrial Diseases, Endocrinology, Diabetes and Metabolism, Blood Pressure, DNA, Mitochondrial, Gastroenterology, Nephropathy, Diabetic nephropathy, Retinal Diseases, Internal medicine, Diabetes mellitus, Internal Medicine, Humans, Medicine, Diabetic Nephropathies, Glycated Hemoglobin, Diabetic Retinopathy, business.industry, Diabetic retinopathy, medicine.disease, Diabetes Mellitus, Type 1, Phenotype, Endocrinology, Blood pressure, Diabetes Mellitus, Type 2, Mutation, ACE inhibitor, Female, Kidney Diseases, business, Diabetic Angiopathies, Glomerular Filtration Rate, medicine.drug, Kidney disease, Retinopathy

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5744e97e56f65488c9ce0dbdd13d9541Test
https://doi.org/10.1007/s00125-008-1073-1Test

المؤلفون: Danièle Dubois-Laforgue, Gilberto Velho, Wei-Zhen Ye, José Timsit, Christine Bellanné-Chantelot

المصدر: Metabolism. 50:366-369

مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Genotype, Vitamin D-binding protein, Endocrinology, Diabetes and Metabolism, Biology, White People, Genetic determinism, Endocrinology, Gene Frequency, Reference Values, Risk Factors, Internal medicine, medicine, Humans, Genetic Predisposition to Disease, Allele, Allele frequency, Gene, Alleles, Genetics, Polymorphism, Genetic, Vitamin D-Binding Protein, Haplotype, Chromosome Mapping, Type 2 Diabetes Mellitus, Phenotype, Diabetes Mellitus, Type 2, Haplotypes, Female, France

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cb7e45cadd6d5eaa3cac017b1345cb91Test
https://doi.org/10.1053/meta.2001.20172Test

المؤلفون: Jean-François Gautier, Laetitia Jacquesson, Claire Douillard, Jean-François Subra, Christine Bellanné-Chantelot, Gilberto Velho, José Timsit, Séverine Clauin, Michel Jadoul, Jean-Marie Wilhem, Jacques Young, Marie Laloi-Michelin, Danièle Dubois-Laforgue, Etienne Larger, Dominique Chauveau, Philippe Collin, Laurent Dusselier, Marc Nicolino, Michèle Daumont, Jacques Louis

المصدر: Diabetes. 54(11)

مصطلحات موضوعية: Adult, Male, Adolescent, Endocrinology, Diabetes and Metabolism, Molecular Sequence Data, Biology, Maturity onset diabetes of the young, Exon, Multiplex polymerase chain reaction, Internal Medicine, medicine, Humans, Gene, Transcription factor, Alleles, Aged, Hepatocyte Nuclear Factor 1-beta, Genetics, Base Sequence, Point mutation, Chromosome Mapping, Middle Aged, medicine.disease, Molecular biology, Phenotype, Hepatocyte nuclear factors, Diabetes Mellitus, Type 2, Mutation, Female

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::79e114babe47722be2b2ef0439c3c267Test
https://pubmed.ncbi.nlm.nih.gov/16249435Test

المؤلفون: Christian Boitard, Danièle Dubois-Laforgue, Sandrine Beaufils, José Timsit, Laure-Hélène Noël, Séverine Clauin, Jean-François Gautier, Christine Bellanné-Chantelot, Gilberto Velho, Jean-Marie Wilhelm, Dominique Chauveau

المصدر: Scopus-Elsevier

مصطلحات موضوعية: Adult, medicine.medical_specialty, Kidney, medicine.disease_cause, Internal medicine, Internal Medicine, medicine, Humans, Diabetic Nephropathies, Genitalia, Hepatocyte Nuclear Factor 1-alpha, Nuclear protein, Pancreas, Gene, Transcription factor, Genes, Dominant, Hepatocyte Nuclear Factor 1-beta, Mutation, business.industry, Nuclear Proteins, General Medicine, Phenotype, DNA-Binding Proteins, Hepatocyte nuclear factors, medicine.anatomical_structure, Endocrinology, Diabetes Mellitus, Type 2, Hepatocyte, Hepatocyte Nuclear Factor 1, Hepatocyte Nuclear Factor 1-Beta, Cancer research, Exocrine Pancreatic Insufficiency, Atrophy, business, Transcription Factors

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::502f6d56a5b274ad9a8d8ba9a34762e5Test
http://www.scopus.com/inward/record.url?eid=2-s2.0-12144286598&partnerID=MN8TOARSTest