المؤلفون: Xavier Donath, Cécile Saint-Martin, Danièle Dubois-Laforgue, Ramanan Rajasingham, François Mifsud, Cécile Ciangura, José Timsit, Christine Bellanné-Chantelot, on behalf of the Monogenic Diabetes Study Group of the Société Francophone du Diabète

المصدر: BMC Medicine, Vol 17, Iss 1, Pp 1-10 (2019)

مصطلحات موضوعية: Monogenic diabetes, MODY, Next-generation sequencing, Molecular diagnostics, Variant of uncertain significance, Pathogenic variants, Medicine

وصف الملف: electronic resource

العلاقة: http://link.springer.com/article/10.1186/s12916-019-1363-0Test; https://doaj.org/toc/1741-7015Test

الوصول الحر: https://doaj.org/article/89fd01c2cce64b838c89838f47adb774Test

المؤلفون: Étienne, Larger, Marc, Diedisheim, Xavier, Donath, Léa, Dehghani, Agnès, Sola-Gazagnes

المصدر: La Revue du praticien. 68(6)

مصطلحات موضوعية: Blood Glucose, Asia, Diabetes Mellitus, Type 1, Asian People, Humans, Hypoglycemic Agents, Insulin

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::d139cbd0ccb1f30355d9d87144a4dc9bTest
https://pubmed.ncbi.nlm.nih.gov/30869248Test

المؤلفون: Ramanan Rajasingham, C. Ciangura, José Timsit, Christine Bellanné-Chantelot, Danièle Dubois-Laforgue, Cécile Saint-Martin, François Mifsud, Xavier Donath

المساهمون: Gestionnaire, Hal Sorbonne Université, Service de diabétologie [CHU Cochin], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Cochin [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Sorbonne Université (SU), Service de Génétique Cytogénétique et Embryologie [CHU Pitié-Salpêtrière], 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), 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), Hôpital Bretonneau, Centre Hospitalier Régional Universitaire de Tours (CHRU Tours), Service de Diabétologie [CHU Pitié-Salpétrière], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (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), Service de diabétologie [CHU Pitié-Salpétrière]

المصدر: BMC Medicine
BMC Medicine, 2019, 17 (1), pp.132. ⟨10.1186/s12916-019-1363-0⟩
BMC Medicine, BioMed Central, 2019, 17 (1), pp.132. ⟨10.1186/s12916-019-1363-0⟩
BMC Medicine, Vol 17, Iss 1, Pp 1-10 (2019)

مصطلحات موضوعية: Proband, Adult, Male, medicine.medical_specialty, Adolescent, Cross-sectional study, lcsh:Medicine, [SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics, ABCC8, 03 medical and health sciences, Young Adult, 0302 clinical medicine, Monogenic diabetes, Diabetes mellitus, Internal medicine, Molecular diagnostics, Medicine, Humans, 030212 general & internal medicine, Genetic Testing, Family history, 10. No inequality, 2. Zero hunger, [SDV.MHEP.EM] Life Sciences [q-bio]/Human health and pathology/Endocrinology and metabolism, biology, business.industry, lcsh:R, High-Throughput Nucleotide Sequencing, Pathogenic variants, General Medicine, [SDV.MHEP.EM]Life Sciences [q-bio]/Human health and pathology/Endocrinology and metabolism, medicine.disease, HNF1B, 3. Good health, HNF1A, Cross-Sectional Studies, Diabetes Mellitus, Type 2, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, MODY, biology.protein, Next-generation sequencing, Female, business, Variant of uncertain significance, Body mass index, 030217 neurology & neurosurgery, Research Article

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::61e6e6599ef39f965e7f017ce4fd8d5aTest
https://hal.sorbonne-universite.fr/hal-02273111Test