المؤلفون: Jérémie Gautheron, Lara Lima, Baris Akinci, Jamila Zammouri, Martine Auclair, Sema Kalkan Ucar, Samim Ozen, Canan Altay, Bridget E. Bax, Ivan Nemazanyy, Véronique Lenoir, Carina Prip-Buus, Cécile Acquaviva-Bourdain, Olivier Lascols, Bruno Fève, Corinne Vigouroux, Esther Noel, Isabelle Jéru

المصدر: BMC Medicine, Vol 20, Iss 1, Pp 1-21 (2022)

مصطلحات موضوعية: TP, Thymidine phosphorylase, Lipodystrophy, Insulin resistance, Mutation, Adipose stem cell, Medicine

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1741-7015Test

الوصول الحر: https://doaj.org/article/f23ef112e8e2444f9f3eb4e619a1fcccTest

المؤلفون: Muriel Girard, Yves Chretien, Bertrand Roquelaure, Olivier Chazouillères, Catherine Dong, Véronique Barbu, Christophe Corpechot, Isabelle Jéru, Pierre Broué, Chantal Housset, Olivier Lascols

المصدر: Liver International. 40:163-174

مصطلحات موضوعية: Adult, Male, Heterozygote, medicine.medical_specialty, Adolescent, DNA Copy Number Variations, Benign Recurrent Intrahepatic Cholestasis, Population, Cholestasis, Intrahepatic, Gastroenterology, Liver disorder, Cohort Studies, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Dubin–Johnson syndrome, Cholestasis, Pregnancy, Internal medicine, medicine, Humans, Neonatal cholestasis, Child, education, Genetic testing, education.field_of_study, Hepatology, medicine.diagnostic_test, Jaundice, Chronic Idiopathic, business.industry, Infant, Middle Aged, medicine.disease, Multidrug Resistance-Associated Protein 2, Pregnancy Complications, Child, Preschool, 030220 oncology & carcinogenesis, Mutation, Female, 030211 gastroenterology & hepatology, France, Multidrug Resistance-Associated Proteins, business, Cholestasis of pregnancy

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0e4c8aaa24fccf90fa3cae1fd7142a69Test
https://doi.org/10.1111/liv.14260Test

المؤلفون: Giovanni Ceccarini, Silvia Magno, Caterina Pelosini, Federica Ferrari, Maria Rita Sessa, Gaia Scabia, Margherita Maffei, Isabelle Jéru, Olivier Lascols, Corinne Vigouroux, Ferruccio Santini

المصدر: Frontiers in Endocrinology
Frontiers in Endocrinology, Vol 11 (2020)

مصطلحات موضوعية: Male, 0301 basic medicine, AGPAT2, Berardinelli-Seip syndrome, BSCL1, leptin, lipodystrophy, Endocrinology, Diabetes and Metabolism, Mutation, Missense, Case Report, 030209 endocrinology & metabolism, Disease, medicine.disease_cause, Bioinformatics, lcsh:Diseases of the endocrine glands. Clinical endocrinology, Congenital generalized lipodystrophy, Genetic Heterogeneity, 03 medical and health sciences, chemistry.chemical_compound, Endocrinology, 0302 clinical medicine, Atrophy, Lipodystrophy, Congenital Generalized, Lysophosphatidic acid, medicine, Humans, Missense mutation, Child, Lipoatrophy, Mutation, lcsh:RC648-665, business.industry, Homozygote, Middle Aged, medicine.disease, Pedigree, 3. Good health, 030104 developmental biology, chemistry, Codon, Nonsense, Female, Lipodystrophy, business, Acyltransferases

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::04c7c896acf1fd000af0cb6ad64e3e36Test
https://doi.org/10.3389/fendo.2020.00039Test

المؤلفون: Caroline Le Dour, Corinne Vigouroux, Pauline Afonso, Véronique Béréziat, Guillaume Bidault, Olivier Lascols, Anne-Claire Guenantin, Camille Vatier, Jacqueline Capeau, Isabelle Jéru, Emilie Capel, Nolwenn Briand

المساهمون: Centre de Recherche Saint-Antoine (UMRS893), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM), CHU Saint-Antoine [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Laboratoire commun de biologie et génétique moléculaires [CHU Saint-Antoine], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Saint-Antoine [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU), The Wellcome Trust Sanger Institute [Cambridge], Metabolic Research Laboratories [Cambridge, UK] (University of Cambridge), Wellcome Trust - MRC Cambridge-Addenbrooke’s Hospital [Cambridge, UK], Department of Molecular Medicine [Oslo], Institute of Basic Medical Sciences [Oslo], Faculty of Medicine [Oslo], University of Oslo (UiO)-University of Oslo (UiO)-Faculty of Medicine [Oslo], University of Oslo (UiO)-University of Oslo (UiO), The authors thank Sorbonne Université, former Université Pierre and Marie Curie (UPMC), Institut National de la Santé et de la Recherche Médicale (INSERM), Institute of Cardio Metabolism (ICAN), ANRS (France REcherche Nord&Sud Sidahiv Hépatites), Région Ile-de-France STEM-Pole, Association Française d’Etude et de Recherche sur l’Obésité (AFERO), Fondation de France, Fondation pour la Recherche Médicale, Société Francophone du Diabète (SFD), for the financial support to our research team at Saint Antoine Research Centre, Paris, France., Vigouroux, Corinne

المصدر: Nucleus
Nucleus, 2018, 9 (1), pp.251-264. ⟨10.1080/19491034.2018.1456217⟩
Nucleus, European Nuclear Society, 2018, 9 (1), pp.251-264. ⟨10.1080/19491034.2018.1456217⟩

مصطلحات موضوعية: 0301 basic medicine, Senescence, lipodystrophy, senescence, induced pluripotent stem cells, extracellular matrix, Adipose tissue, Biology, Bioinformatics, LMNA, 03 medical and health sciences, Metreleptin, chemistry.chemical_compound, 0302 clinical medicine, medicine, Humans, Epigenetics, [SDV.MHEP.EM] Life Sciences [q-bio]/Human health and pathology/Endocrinology and metabolism, Lamin A/C, epigenetics, integumentary system, Laminopathies, differentiation, Cell Biology, [SDV.MHEP.EM]Life Sciences [q-bio]/Human health and pathology/Endocrinology and metabolism, Lamin Type A, medicine.disease, adipose tissue, 3. Good health, 030104 developmental biology, chemistry, metreleptin, 030220 oncology & carcinogenesis, Mutation, Anticipation (genetics), anticipation, Lipodystrophy, Lamin

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5493aeb98ce0337b3bbc9f51fffd1c92Test
https://doi.org/10.1080/19491034.2018.1456217Test

المؤلفون: Corinne Vigouroux, Marie-Christine Vantyghem, Camille Vatier, Jean-Claude Carel, Sophie Christin-Maitre, Bruno Fève, Isabelle Jéru, Jacques Beltrand, Olivier Lascols, Caroline Storey, Elise Bismuth

المساهمون: Service d'Endocrinologie, diabétologie et endocrinologie de la reproduction [CHU Saint-Antoine], CHU Saint-Antoine [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Centre de Recherche Saint-Antoine (CR Saint-Antoine), Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-CHU Saint-Antoine [AP-HP], Unité de Recherche sur les Maladies Cardiovasculaires, du Métabolisme et de la Nutrition = Institute of cardiometabolism and nutrition (ICAN), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), AP-HP Hôpital universitaire Robert-Debré [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Université Sorbonne Paris Cité (USPC), Laboratoire commun de biologie et génétique moléculaires [CHU Saint-Antoine], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Saint-Antoine [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU), CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Service d'endocrinologie, gynécologie et diabétologie pédiatriques [CHU Necker], CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Service d'endocrinologie, diabétologie et nutrition, Centre de Recherche en Nutrition Humaine - Ile de France (CRNH - IDF)-Hôpital Jean Verdier [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Sorbonne Paris Cité (USPC)-Université Paris 13 (UP13), Gestionnaire, Hal Sorbonne Université, Centre de Recherche Saint-Antoine (CRSA), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Unité de Recherche sur les Maladies Cardiovasculaires, du Métabolisme et de la Nutrition = Research Unit on Cardiovascular and Metabolic Diseases (ICAN), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Institut de Cardiométabolisme et Nutrition = Institute of Cardiometabolism and Nutrition [CHU Pitié Salpêtrière] (IHU ICAN), CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-CHU Pitié-Salpêtrière [AP-HP], Maladies génétiques d'expression pédiatrique [CHU Trousseau] (Inserm U933), Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Trousseau [APHP], Université Paris 13 (UP13)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Sorbonne Paris Cité (USPC)-Hôpital Jean Verdier [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Centre de Recherche en Nutrition Humaine - Ile de France (CRNH - IDF)

المصدر: Current Medical Research and Opinion
Current Medical Research and Opinion, Taylor & Francis, 2019, 35 (3), pp.543-552. ⟨10.1080/03007995.2018.1533459⟩
Current Medical Research and Opinion, 2019, 35 (3), pp.543-552. ⟨10.1080/03007995.2018.1533459⟩

مصطلحات موضوعية: Adult, Male, Pediatrics, medicine.medical_specialty, Lipodystrophy, Familial partial lipodystrophy, Berardinelli-Seip congenital lipodystrophy, Early detection, Consanguinity, 030204 cardiovascular system & hematology, Metreleptin, Congenital generalized lipodystrophy, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, GTP-Binding Protein gamma Subunits, medicine, Humans, 030212 general & internal medicine, Aged, Metabolic Syndrome, [SDV.MHEP.EM] Life Sciences [q-bio]/Human health and pathology/Endocrinology and metabolism, business.industry, Infant, General Medicine, [SDV.MHEP.EM]Life Sciences [q-bio]/Human health and pathology/Endocrinology and metabolism, medicine.disease, 3. Good health, Fatty Liver, chemistry, Mutation, Berardinelli-Seip Congenital Lipodystrophy, Female, business, Acyltransferases

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ad5b842faba189ef0b69112c066120feTest
https://hal.sorbonne-universite.fr/hal-02272036/documentTest

المؤلفون: Pierre Kieffer, Jean-Philippe Girardet, Khaldia Belabbas, Anne Lienhardt, Ahlam Azar-Kolakez, François Labarthe, Anne-Marie Colin Gorsky, Olivier Lascols, Béatrice Dubern, Franck Boccara, Catherine Tamarindi, Mathilde Di Filippo, Jean-Claude Carel, Félicien MBou, Alice Horovitz, René Wintjens, Dominique Bozon, Mathilde Jolly, Fabienne Dufernez, Ariel Cohen, François Feillet, Patrick Tounian, A. Karsenty

المساهمون: Université Libre de Bruxelles [Bruxelles] (ULB), Centre de Biologie et Pathologie Est (CBPE), Hospices Civils de Lyon (HCL)-Centre National de Référence des Légionelles, Laboratoire Commun de Biologie et Génétiques Moléculaires (LCBGM [Hôpital Saint-Antoine]), AP-HP - Hôpital Saint-Antoine, Service d’Endocrinologie [Hôpital le Lamentin Bourg - CHU de la Martinique], CHU de la Martinique [Fort de France]-Hôpital Le Lamentin Bourg [CHU de la Martinique], CHU de la Martinique [Fort de France], Service de Gastroentérologie et Nutrition Pédiatrique [APHP Trousseau], CHU Trousseau [APHP], Service d'Endocrinologie, Diabétologie et Nutrition [CHU Angers], Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM)-PRES Université Nantes Angers Le Mans (UNAM), Service de Cardiologie [CHU Saint-Antoine], Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-CHU Saint-Antoine [APHP], Service d'endocrinologie diabétologie pédiatrique [CHU Debré], AP-HP Hôpital universitaire Robert-Debré [Paris], Centre de Référence des Maladies Endocriniennes Rares de la Croissance [APHP Robert Debré], Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Hôpital Robert Debré-Université Paris Diderot - Paris 7 (UPD7), Nutrition-Génétique et Exposition aux Risques Environnementaux (NGERE), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lorraine (UL), Service de Médecine Infantile III et Génétique Clinique [CHRU Nancy], Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy), Nutrition, croissance et cancer (U 1069) (N2C), Université de Tours-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de médecine pédiatrique [CHRU Tours-Clocheville], Centre Hospitalier Régional Universitaire de Tours (CHRU TOURS), Centre Hospitalier d'Argenteuil, Service de Cardiologie [CHU Bordeaux], CHU Bordeaux [Bordeaux], Service de Maternité [CHU Hagueneau], Centre Hospitalier Hagueneau (CH Hagueneau), Service de Médecine Interne [CH Mulhouse- E. Muller], Centre Hospitalier Emile Muller [Mulhouse] (CH E.Muller Mulhouse), Groupe Hospitalier de Territoire Haute Alsace (GHTHA)-Groupe Hospitalier de Territoire Haute Alsace (GHTHA), Service de Pédiatrie médicale - Spécialités médicales [CHU Limoges], CHU Limoges, Université Pierre et Marie Curie - Paris 6 - UFR de Médecine Pierre et Marie Curie (UPMC), Université Pierre et Marie Curie - Paris 6 (UPMC), Cardiovasculaire, métabolisme, diabétologie et nutrition (CarMeN), Institut National de la Recherche Agronomique (INRA)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National des Sciences Appliquées de Lyon (INSA Lyon), Université de Lyon-Institut National des Sciences Appliquées (INSA)-Institut National des Sciences Appliquées (INSA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Hospices Civils de Lyon (HCL), Université libre de Bruxelles (ULB), CHU Saint-Antoine [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Robert Debré-Université Paris Diderot - Paris 7 (UPD7), Université de Tours (UT)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre Hospitalier Victor Dupouy, Université de Lyon-Institut National des Sciences Appliquées (INSA)-Institut National des Sciences Appliquées (INSA)-Hospices Civils de Lyon (HCL)-Institut National de la Santé et de la Recherche Médicale (INSERM), Biology-Imaging District of East-Hospitals Group of AP-HP (Assistance Publique-Hopitaux de Paris), Université de Lorraine (UL)-Institut National de la Santé et de la Recherche Médicale (INSERM), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Tours, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Université Paris Diderot - Paris 7 (UPD7)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Robert Debré, Institut National des Sciences Appliquées (INSA)-Université de Lyon-Institut National des Sciences Appliquées (INSA)-Hospices Civils de Lyon (HCL)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre Hospitalier Régional Universitaire de Tours (CHRU Tours), Hospices Civils de Lyon (HCL)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut National des Sciences Appliquées de Lyon (INSA Lyon), Institut National des Sciences Appliquées (INSA)-Université de Lyon-Institut National des Sciences Appliquées (INSA)-Université de Lyon-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Institut National de la Recherche Agronomique (INRA)

المصدر: Journal of Lipid Research
Journal of Lipid Research, American Society for Biochemistry and Molecular Biology, 2016, 57 (3), pp.482-491. ⟨10.1194/jlr.P055699⟩
Journal of Lipid Research, 2016, 57 (3), pp.482-491. ⟨10.1194/jlr.P055699⟩
Journal of Lipid Research 3 (57), 482-491. (2016)
Journal of Lipid Research, Vol 57, Iss 3, Pp 482-491 (2016)
Journal of lipid research, 57 (3

مصطلحات موضوعية: Male, Models, Molecular, Protein Conformation, alpha-Helical, 0301 basic medicine, Apolipoprotein E, Genotyping Techniques, Apolipoprotein B, Familial hypercholesterolemia, apolipoprotéine, 030204 cardiovascular system & hematology, medicine.disease_cause, Biochemistry, Cohort Studies, Exon, 0302 clinical medicine, Endocrinology, Child, apolipoprotein E, Genetics, Mutation, familial hypercholesterolemia, biology, cholestérol, Exons, [SDV.MHEP.EM]Life Sciences [q-bio]/Human health and pathology/Endocrinology and metabolism, Endocrinologie, 3. Good health, phénotype, Phenotype, Kexin, Female, lipids (amino acids, peptides, and proteins), France, Proprotein Convertase 9, génotype, corrélation, Adult, Biochimie, hypercholestérolemie, QD415-436, Hyperlipoproteinemia Type II, Young Adult, 03 medical and health sciences, Apolipoproteins E, apolipoproteins, cholesterol, low density lipoprotein, phenotype/genotype correlation, medicine, Humans, Apolipoproteins B, PCSK9, Cell Biology, medicine.disease, 030104 developmental biology, Receptors, LDL, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, LDL receptor, biology.protein, Biologie cellulaire, Patient-Oriented and Epidemiological Research

وصف الملف: application/pdf; 2 full-text file(s): application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c1898cff39612d916c240b82c79ea07eTest
https://doi.org/10.1194/jlr.p055699Test

المؤلفون: Corinne Vigouroux, Mathieu Schaaf, Olivier Lascols, Philippe Chevalier, Philippe Andre, Stéphane Schneebeli

المصدر: American Heart Journal. 169:587-593

مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, DNA Mutational Analysis, Laminopathy, LMNA, Electrocardiography, Young Adult, Internal medicine, medicine, Humans, Protein Precursors, Aged, Retrospective Studies, Prenylation, Ejection fraction, medicine.diagnostic_test, business.industry, Leptin, Nuclear Proteins, DNA, Middle Aged, Lamin Type A, medicine.disease, Lipodystrophy, Familial Partial, Phenotype, Endocrinology, Atheroma, Heart failure, Mutation, Female, Lipodystrophy, Cardiomyopathies, Cardiology and Cardiovascular Medicine, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ce028ba6c63315d6fbd689483f977d8fTest
https://doi.org/10.1016/j.ahj.2014.12.021Test

المؤلفون: Martine Caron-Debarle, Nolwenn Briand, Guillaume Bidault, Véronique Béréziat, Pauline Afonso, Anne-Claire Guénantin, Camille Vatier, Olivier Lascols, Jacqueline Capeau, Corinne Vigouroux

المصدر: Seminars in Cell & Developmental Biology. 29:148-157

مصطلحات موضوعية: Senescence, medicine.medical_specialty, Lipodystrophy, Nuclear Envelope, Biology, Mice, Non-alcoholic Fatty Liver Disease, Internal medicine, Molecular genetics, Lipid droplet, Adipocytes, medicine, Animals, Humans, Inner membrane, Protein Precursors, Dyslipidemias, Adipogenesis, Lamin Type B, Nuclear Proteins, Aging, Premature, Cell Biology, Lamin Type A, Lipid Metabolism, Familial partial lipodystrophy, medicine.disease, Phenotype, Endocrinology, Adipose Tissue, Amino Acid Substitution, Mutation, Insulin Resistance, Lamin, Developmental Biology

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3202f3cdedd0df5a01891a540630035eTest
https://doi.org/10.1016/j.semcdb.2013.12.015Test

المؤلفون: Olivier Lascols, Corinne Vigouroux, Camille Vatier, Isabelle Jéru, David Araújo-Vilar

مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Genotype, BSCL2, Caveolin 1, 030204 cardiovascular system & hematology, Biology, Risk Assessment, Sensitivity and Specificity, Congenital generalized lipodystrophy, 03 medical and health sciences, 0302 clinical medicine, PTRF, Lipodystrophy, Congenital Generalized, Genetic linkage, Molecular genetics, GTP-Binding Protein gamma Subunits, Genetics, medicine, Humans, Genetic Testing, Pathology, Molecular, Genetics (clinical), Cytogenetics, RNA-Binding Proteins, medicine.disease, Human genetics, 030104 developmental biology, Clinical Utility Gene Card, Mutation, Medical genetics, Acyltransferases

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::30b1e809240e928c48ac812e34594fa5Test
https://europepmc.org/articles/PMC5110052Test/

المؤلفون: Stéphane Schneebeli, Véronique Béréziat, Jacqueline Capeau, Fawzi Bakiri, Caroline Le Dour, Françoise Darcel, Corinne Vigouroux, Martine Auclair, Marie-Anne Maubert, Yves Reznik, Olivier Lascols, Marie-Line Jacquemont, Dorota Jeziorowska

المصدر: The Journal of Clinical Endocrinology & Metabolism. 96:E856-E862

مصطلحات موضوعية: Adult, Leptin, Proband, congenital, hereditary, and neonatal diseases and abnormalities, Lipodystrophy, Endocrinology, Diabetes and Metabolism, Clinical Biochemistry, Laminopathy, macromolecular substances, Biology, Biochemistry, LMNA, Young Adult, Diabetes mellitus genetics, Endocrinology, Diabetes Mellitus, medicine, Humans, Acanthosis Nigricans, Protein Precursors, Cellular Senescence, Hypertriglyceridemia, Prenylation, Genetics, integumentary system, Biochemistry (medical), Nuclear Proteins, nutritional and metabolic diseases, Arrhythmias, Cardiac, Heterozygote advantage, Fibroblasts, Middle Aged, Lamin Type A, medicine.disease, Phenotype, Founder Effect, Fatty Liver, Oxidative Stress, Mutation, embryonic structures, Mutation (genetic algorithm), Female, Adiponectin, Founder effect

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5c6867e8bf9e8f8dad891caa949a5083Test
https://doi.org/10.1210/jc.2010-2234Test