المؤلفون: Lauriane Le Collen, Brigitte Delemer, Marta Spodenkiewicz, Pascale Cornillet Lefebvre, Emmanuelle Durand, Emmanuel Vaillant, Alaa Badreddine, Mehdi Derhourhi, Tarik Ait Mouhoub, Guillaume Jouret, Pauline Juttet, Pierre François Souchon, Martine Vaxillaire, Philippe Froguel, Amélie Bonnefond, Martine Doco Fenzy

المصدر: Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-9 (2022)

مصطلحات موضوعية: Childhood onset diabetes, Genotype–phenotype relations, Genetic disorders, Genetic analysis, Intellectual disability, Wolfram syndrome, Medicine

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1750-1172Test

الوصول الحر: https://doaj.org/article/dd5da5cd92584eff962e351fadeb6a4eTest

المؤلفون: Regina Prigge, John A. McKnight, Sarah H. Wild, Aveni Haynes, Timothy W. Jones, Elizabeth A. Davis, Birgit Rami‐Merhar, Maria Fritsch, Christine Prchla, Astrid Lavens, Kris Doggen, Suchsia Chao, Ronnie Aronson, Ruth Brown, Else H. Ibfelt, Jannet Svensson, Robert Young, Justin T. Warner, Holy Robinson, Tiina Laatikainen, Päivi Rautiainen, Brigitte Delemer, Pierre François Souchon, Alpha M. Diallo, Reinhard W. Holl, Sebastian M. Schmid, Klemens Raile, Stelios Tigas, Alexandra Bargiota, Ioanna Zografou, Andrea O. Y. Luk, Juliana C. N. Chan, Sean F. Dinneen, Claire M. Buckley, Oratile Kgosidialwa, Valentino Cherubini, Rosaria Gesuita, Ieva Strele, Santa Pildava, Henk Veeze, Henk‐Jan Aanstoot, Dick Mul, Craig Jefferies, John G. Cooper, Karianne Fjeld Løvaas, Tadej Battelino, Klemen Dovc, Nataša Bratina, Katarina Eeg‐Olofsson, Ann‐Marie Svensson, Soffia Gudbjornsdottir, Evgenia Globa, Nataliya Zelinska

المصدر: Prigge, R, McKnight, J A, Wild, S H, Haynes, A, Jones, T W, Davis, E A, Rami-Merhar, B, Fritsch, M, Prchla, C, Lavens, A, Doggen, K, Chao, S, Aronson, R, Brown, R, Ibfelt, E H, Svensson, J, Young, R, Warner, J T, Robinson, H, Laatikainen, T, Rautiainen, P, Delemer, B, Souchon, P F, Diallo, A M, Holl, R W, Schmid, S M, Raile, K, Tigas, S, Bargiota, A, Zografou, I, Luk, A O Y, Chan, J C N, Dinneen, S F, Buckley, C M, Kgosidialwa, O, Cherubini, V, Gesuita, R, Strele, I, Pildava, S, Veeze, H, Aanstoot, H-J, Mul, D, Jefferies, C, Cooper, J G, Løvaas, K F, Battelino, T, Dovc, K, Bratina, N, Eeg-Olofsson, K, Svensson, A-M, Gudbjornsdottir, S, Globa, E & Zelinska, N 2022, ' International comparison of glycaemic control in people with type 1 diabetes : an update and extension ', Diabetic Medicine, vol. 39, no. 5, e14766 . https://doi.org/10.1111/dme.14766Test

مصطلحات موضوعية: Adult, Blood Glucose, Glycated Hemoglobin, Male, HbA1c, Endocrinology, Diabetes and Metabolism, Glycemic Control, Type 1 diabetes, Cross-Sectional Studies, Diabetes Mellitus, Type 1, Endocrinology, Registers of people with diabetes, Glycaemic control, Internal Medicine, Humans, Female, Child

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::527b27b7ea39dbbc6a317a3e7eb321b7Test
https://doi.org/10.1111/dme.14766Test

المؤلفون: Aurélie Berot, Anne Gitton, Alpha Mamadou Diallo, Assia Rahim, Céline Lukas, Pierre François Souchon, Anne Sophie Salmon, Maud François, Sang Ly, Géraldine Vitellius, Bénédicte Decoudier, Véronique Sulmont, Brigitte Delemer, Sara Barraud

المصدر: Diabetesmetabolism. 48(5)

مصطلحات موضوعية: Adult, Endocrinology, Diabetes and Metabolism, Incidence, General Medicine, Ketosis, Hospitals, Diabetic Ketoacidosis, Endocrinology, Diabetes Mellitus, Type 1, Child, Preschool, Internal Medicine, Humans, Child, Retrospective Studies

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cccfc2a1d21e5a2b1edf3d1f44e15511Test
https://pubmed.ncbi.nlm.nih.gov/35339663Test

المؤلفون: Antoine Braconnier, Dominique Zachar, Sophie Deguelte, Lucie Coppin, Céline Poirsier, Marta Spodenkiewicz, Lauriane Le Collen, Camille Boulagnon, Sébastien Aubert, Marie Françoise Odou, Pierre François Souchon, Sara Barraud, Brigitte Delemer

المساهمون: Centre de Recherche en Sciences et Technologies de l'Information et de la Communication - EA 3804 (CRESTIC), Université de Reims Champagne-Ardenne (URCA)

المصدر: Endocrine
Endocrine, Springer, 2021, 73, pp.693-701. ⟨10.1007/s12020-021-02756-4⟩

مصطلحات موضوعية: Adenoma, Pathology, medicine.medical_specialty, Endocrinology, Diabetes and Metabolism, 030209 endocrinology & metabolism, Fibroma, 03 medical and health sciences, Exon, 0302 clinical medicine, Endocrinology, Germline mutation, medicine, Humans, Family, ComputingMilieux_MISCELLANEOUS, Parathyroid adenoma, Sequence Deletion, Hyperparathyroidism, business.industry, Tumor Suppressor Proteins, Exons, medicine.disease, Penetrance, Jaw Neoplasms, Hyperparathyroidism-Jaw Tumor Syndrome, 3. Good health, Parathyroid carcinoma, 030220 oncology & carcinogenesis, Neoplasm Recurrence, Local, business, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology, Kidney disease

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f85f93b50538820be21def9054d01246Test
https://pubmed.ncbi.nlm.nih.gov/33999366Test

المؤلفون: Laurence Perrin, Marjolaine Willems, Sylvie Rossignol, Hélène Bony-Trifunovic, Cécile Brachet, Catherine Naud-Saudreau, Frédéric Brioude, Claire Sechter, Domitille Thomas, Walid Abi Habib, Georges Gelwane, Elise Brischoux-Boucher, Laurence Berard, Virginie Steunou, Claire Jeandel, Yves Le Bouc, Muriel Houang, Irène Netchine, Eloise Giabicani, Sandra Chantot-Bastaraud, Bertrand Isidor, Salah Azzi, James Lespinasse, Isabelle Guemas, Monique Jesuran-Perelroizen, Emmanuelle Caldagues, Pierre-François Souchon, Juliette Piard, Nathalie Thibaud, Marie-Laure Cuvelier, Bich Lam, Régis Coutant, Caroline Storey

المساهمون: Gestionnaire, Hal Sorbonne Université, Sorbonne Université (SU), 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), CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), CHU Montpellier, Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), UF de Génétique chromosomique [CHU Trousseau], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Maladies génétiques d'expression pédiatrique [CHU Trousseau] (Inserm U933), Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Trousseau [APHP], CHU Amiens-Picardie, Children's University Hospital Queen Fabiola [Bruxelles, Belgium], Université de Franche-Comté (UFC), Université Bourgogne Franche-Comté [COMUE] (UBFC), Centre Hospitalier Régional Universitaire de Besançon (CHRU Besançon), Centre hospitalier universitaire de Nantes (CHU Nantes), Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM), Centre Hospitalier de Calais, Hôpital Robert Debré Paris, Hôpital Robert Debré, Université Paris Diderot - Paris 7 (UPD7), Centre Hospitalier Métropole Savoie [Chambéry], CH Bretagne Sud, Association Française des Pédiatres Endocrinologues Libéraux (AFPEL), Centre Hospitalier Universitaire de Reims (CHU Reims), AP-HP Hôpital universitaire Robert-Debré [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Les Hôpitaux Universitaires de Strasbourg (HUS), Laboratoire de Génétique Médicale (LGM), Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre de Recherche Saint-Antoine (CR Saint-Antoine), Sorbonne Université (SU)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Saint-Antoine [AP-HP]

المصدر: Journal of Medical Genetics
Journal of Medical Genetics, In press, ⟨10.1136/jmedgenet-2019-106328⟩
Journal of Medical Genetics, BMJ Publishing Group, In press, ⟨10.1136/jmedgenet-2019-106328⟩

مصطلحات موضوعية: 0301 basic medicine, Oncology, medicine.medical_specialty, Microcephaly, 030209 endocrinology & metabolism, [SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics, Short stature, fetal growth restriction, 03 medical and health sciences, small for gestational age, 0302 clinical medicine, Growth factor receptor, Western blot, IGF1R, Internal medicine, Genetics, medicine, Genetics (clinical), Insulin-like growth factor 1 receptor, medicine.diagnostic_test, business.industry, homozygous variant, medicine.disease, Phenotype, IGF-I, body regions, 030104 developmental biology, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Cohort, Small for gestational age, medicine.symptom, business

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::30ee6d49255a92d9a87bc5b4b19c1735Test
https://hal.sorbonne-universite.fr/hal-02435128Test

المؤلفون: Martine Doco-Fenzy, Mustapha Elalloussi, Laura C. Collopy, Jean-Pierre de Villartay, Aomar Agadr, Thierry Leblanc, Pierre-François Souchon, Tom Vulliami, Bérénice Hervé, Rodolphe Dard, Stephanie Gorde, Rachid Abilkassem, Alain Verloes, Abel Babik, Séverine Drunat

المساهمون: Service de génétique [Reims], Centre Hospitalier Universitaire de Reims (CHU Reims), Service de génétique [Poissy], CHI Poissy-Saint-Germain, Service d'hématologie pédiatrique - CHU Reims, Laboratory of Human Genetics of Infectious Diseases (Necker Branch - INSERM U1163), Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Barts & The London School of Medicine and Dentistry [London, UK] (Blizard Institute), Queen Mary University of London (QMUL), Hôpital Robert Debré Paris, Hôpital Robert Debré, American Memorial Hospital (Hôpital des enfants) [Reims], Rabat Military Hospital, Hémostase et Remodelage Vasculaire Post-Ischémie (HERVI - EA 3801), Université de Reims Champagne-Ardenne (URCA)

المصدر: Pediatric Allergy and Immunology
Pediatric Allergy and Immunology, Wiley, 2017, 28 (3), pp.298-303. ⟨10.1111/pai.12694⟩

مصطلحات موضوعية: 0301 basic medicine, [SDV.GEN]Life Sciences [q-bio]/Genetics, Severe combined immunodeficiency, Microcephaly, business.industry, Immunology, LIG4 syndrome, LIG4, medicine.disease, Pancytopenia, Short stature, 3. Good health, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Seckel syndrome, Pediatrics, Perinatology and Child Health, medicine, Immunology and Allergy, medicine.symptom, business, ComputingMilieux_MISCELLANEOUS, 030217 neurology & neurosurgery, Immunodeficiency

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::549fe4ab3977d09d382e5f31756c8684Test
https://doi.org/10.1111/pai.12694Test

المؤلفون: Eloïse, Giabicani, Marjolaine, Willems, Virginie, Steunou, Sandra, Chantot-Bastaraud, Nathalie, Thibaud, Walid, Abi Habib, Salah, Azzi, Bich, Lam, Laurence, Bérard, Hélène, Bony-Trifunovic, Cécile, Brachet, Elise, Brischoux-Boucher, Emmanuelle, Caldagues, Regis, Coutant, Marie-Laure, Cuvelier, Georges, Gelwane, Isabelle, Guemas, Muriel, Houang, Bertrand, Isidor, Claire, Jeandel, James, Lespinasse, Catherine, Naud-Saudreau, Monique, Jesuran-Perelroizen, Laurence, Perrin, Juliette, Piard, Claire, Sechter, Pierre-François, Souchon, Caroline, Storey, Domitille, Thomas, Yves, Le Bouc, Sylvie, Rossignol, Irène, Netchine, Frédéric, Brioude

المصدر: Journal of medical genetics. 57(3)

مصطلحات موضوعية: Male, Heterozygote, Fetal Growth Retardation, Adolescent, Homozygote, Mutation, Missense, Dwarfism, Receptors, Somatomedin, Polymorphism, Single Nucleotide, Pedigree, Receptor, IGF Type 1, Fetal Development, Insulin-Like Growth Factor II, Infant, Small for Gestational Age, Microcephaly, Humans, Abnormalities, Multiple, Female, Insulin-Like Growth Factor I, Child, Growth Disorders

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::884176ec4ad9bcfb4577ed8a72968606Test
https://pubmed.ncbi.nlm.nih.gov/31586944Test

المؤلفون: Jacques Orgiazzi, Karim Chikh, Brigitte Delemer, Olivier Claris, Jacqueline Trouillas, Sara Barraud, Claire Schvartz, René Gabriel, Raymonde Bouvier, Jean Paul Bory, H. Grulet, Pierre François Souchon

المساهمون: 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), American Memorial Hospital (Reims), Santé Individu Société - SIS (SIS), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Jean Monnet [Saint-Étienne] (UJM)-Hospices Civils de Lyon (HCL)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Université Jean Moulin - Lyon 3 (UJML), Université de Lyon-Université Lumière - Lyon 2 (UL2), Centre de pathologie Est, Hospices Civils de Lyon (HCL), Centre de recherche en neurosciences de Lyon (CRNL), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Université Jean Monnet [Saint-Étienne] (UJM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), FRANCIM, Réseau des registres français du cancer, Service d'Endocrinologie - Diabète - Nutrition [Reims], Université de Reims Champagne-Ardenne (URCA)-Hôpital Robert Debré-Centre Hospitalier Universitaire de Reims (CHU Reims), 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), Université de Lyon-Institut National des Sciences Appliquées (INSA)-Université de Lyon-Institut National des Sciences Appliquées (INSA)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Institut National de la Recherche Agronomique (INRA), Université Lumière - Lyon 2 (UL2)-Université Jean Moulin - Lyon 3 (UJML), Université de Lyon-Université de Lyon-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Hospices Civils de Lyon (HCL)-Université Jean Monnet [Saint-Étienne] (UJM)-Institut National de la Santé et de la Recherche Médicale (INSERM), Laboratoire d'Electronique et des Technologies de l'Information (CEA-LETI), Université Grenoble Alpes (UGA)-Direction de Recherche Technologique (CEA) (DRT (CEA)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA), Service de néonatalogie, Hôpital Edouard Herriot [CHU - HCL], Hospices Civils de Lyon (HCL)-Hospices Civils de Lyon (HCL), Universidade dos Açores, 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), Santé Individu Société (SIS), Université de Lyon-Hospices Civils de Lyon (HCL)-Université Jean Monnet - Saint-Étienne (UJM)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre de recherche en neurosciences de Lyon - Lyon Neuroscience Research Center (CRNL), Université de Lyon-Université de Lyon-Université Jean Monnet - Saint-Étienne (UJM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Commissariat à l'énergie atomique et aux énergies alternatives - Laboratoire d'Electronique et de Technologie de l'Information (CEA-LETI), Direction de Recherche Technologique (CEA) (DRT (CEA))

المصدر: Thyroid
Thyroid, Mary Ann Liebert, 2019, 29 (5), pp.743-747. ⟨10.1089/thy.2018.0098⟩
Thyroid, 2019, 29 (5), pp.743--747. ⟨10.1089/thy.2018.0098⟩
Thyroid, 2019, 29 (5), pp.743-747. ⟨10.1089/thy.2018.0098⟩

مصطلحات موضوعية: TBAb, endocrine system diseases, Endocrinology, Diabetes and Metabolism, [SDV]Life Sciences [q-bio], 0302 clinical medicine, Endocrinology, Pregnancy, Medicine, fetal hyperthyroidism, Child, Receptor, 2. Zero hunger, biology, food and beverages, Receptors, Thyrotropin, 3. Good health, TRAb, 030220 oncology & carcinogenesis, Female, Antibody, hormones, hormone substitutes, and hormone antagonists, Adult, medicine.medical_specialty, endocrine system, 030209 endocrinology & metabolism, Trab, Hashimoto Disease, fetal malformation, Thyrotropin receptor, maternal Hashimoto's disease, Autoimmune thyroiditis, 03 medical and health sciences, Internal medicine, Humans, Autoantibodies, Fetus, business.industry, fungi, Infant, Newborn, Thyroiditis, Autoimmune, Transplacental, medicine.disease, Pregnancy Complications, TSAb, Chronic Disease, biology.protein, business, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology, Hormone

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::10e81a492dd164f5c53c4dd231d7d8a0Test
https://hal.univ-reims.fr/hal-02327689Test

المؤلفون: Aurore Desmons, Brigitte Delemer, Philippe Gillery, Anne-Sophie Salmon, Stéphane Jaisson, Pierre-François Souchon

المصدر: The Journal of Pediatrics. 172:56-62

مصطلحات موضوعية: Blood Glucose, Glycation End Products, Advanced, medicine.medical_specialty, Cross-sectional study, 030209 endocrinology & metabolism, 030204 cardiovascular system & hematology, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Tandem Mass Spectrometry, Glycation, Diabetes mellitus, Internal medicine, medicine, Humans, Pentosidine, Child, Glycemic, Glycated Hemoglobin, Type 1 diabetes, business.industry, medicine.disease, Cross-Sectional Studies, Diabetes Mellitus, Type 1, Endocrinology, Glycemic index, chemistry, Glycemic Index, Pediatrics, Perinatology and Child Health, Advanced glycation end-product, business, Chromatography, Liquid

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9c4dbb7f549041217e392864762acc99Test
https://doi.org/10.1016/j.jpeds.2016.01.066Test

المؤلفون: Anne-Sophie Salmon, Carl Arndt, Brigitte Delemer, Deborah Ancelle, Sara Barraud, Celine Lukas, Bénédicte Decoudier, Maud Francois, Jean-Luc Novella, Moustapha Dramé, Alpha Mamadou Diallo, Pierre-François Souchon

المساهمون: Centre Hospitalier Universitaire de Reims (CHU Reims), CHU de Tours, Hémodialyse, Service d'Endocrinologie - Diabète - Nutrition [Reims], Université de Reims Champagne-Ardenne (URCA)-Hôpital Robert Debré-Centre Hospitalier Universitaire de Reims (CHU Reims)

المصدر: Journal of Diabetes and its Complications
Journal of Diabetes and its Complications, Elsevier, 2018, 32 (8), pp.753-758. ⟨10.1016/j.jdiacomp.2018.05.011⟩

مصطلحات موضوعية: Adult, Blood Glucose, Male, medicine.medical_specialty, Adolescent, Endocrinology, Diabetes and Metabolism, 030209 endocrinology & metabolism, 030204 cardiovascular system & hematology, Hypoglycemia, Cohort Studies, 03 medical and health sciences, chemistry.chemical_compound, Young Adult, 0302 clinical medicine, Endocrinology, Risk Factors, Internal medicine, Diabetes mellitus, Internal Medicine, medicine, Humans, Child, ComputingMilieux_MISCELLANEOUS, Glycated Hemoglobin, Type 1 diabetes, Diabetic Retinopathy, business.industry, Infant, Diabetic retinopathy, [SDV.MHEP.EM]Life Sciences [q-bio]/Human health and pathology/Endocrinology and metabolism, Middle Aged, medicine.disease, Prognosis, 3. Good health, Ketoacidosis, Diabetes Mellitus, Type 1, Early Diagnosis, chemistry, Child, Preschool, Disease Progression, Female, Glycated hemoglobin, France, business, Cohort study, Retinopathy, Follow-Up Studies

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c932240e0779c315a564adce3a4bd65cTest
https://pubmed.ncbi.nlm.nih.gov/29980433Test