Dunnigan lipodystrophy syndrome: French National Diagnosis and Care Protocol (PNDS; Protocole National de Diagnostic et de Soins)

Autor: H. Mosbah, B. Donadille, C. Vatier, S. Janmaat, M. Atlan, C. Badens, P. Barat, S. Béliard, J. Beltrand, R. Ben Yaou, E. Bismuth, F. Boccara, B. Cariou, M. Chaouat, G. Charriot, S. Christin-Maitre, M. De Kerdanet, B. Delemer, E. Disse, N. Dubois, B. Eymard, B. Fève, O. Lascols, P. Mathurin, E. Nobécourt, A. Poujol-Robert, G. Prevost, P. Richard, J. Sellam, I. Tauveron, D. Treboz, B. Vergès, V. Vermot-Desroches, K. Wahbi, I. Jéru, M. C. Vantyghem, C. Vigouroux

Publikováno v: Orphanet Journal of Rare Diseases, Vol 17, Iss S1, Pp 1-23 (2022)

Abstract Dunnigan syndrome, or Familial Partial Lipodystrophy type 2 (FPLD2; ORPHA 2348), is a rare autosomal dominant disorder due to pathogenic variants of the LMNA gene. The objective of the French National Diagnosis and Care Protocol (PNDS; Proto

Externí odkaz: https://doaj.org/article/c3278822ae464ece9712cedafbbea00f

Clinical practice outcomes from 107 patients with Cushing's syndrome treated with osilodrostat in France

Autor: Alexandre Dormoy, Magalie Haissaguerre, Dephine Drui, Lea Demarquet, Cao Christine Do, Laurence Guignat, C Vaillant, Anne-Cecile Papegaey, Yves Raznik, Maelle Le Bras, S Salenave, Isabelle Raingeard, I Tauveron, Vantyghem Marie Christine, M Francois, B Delemer, Florina Luca, Anne Mayer, Jean-Michel Petit, Eric Baudin, Philippe Chanson, Frederic Castinetti, Gerald Raverot, Olivier Chabre, Antoine Tabarin, Jacques Young

Publikováno v: Endocrine Abstracts.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::1f8971eb2730e91967a34df0b3565159
https://doi.org/10.1530/endoabs.81.oc7.3

Syndrome métabolique et pesticides : revue systématique et méta-analyse

Autor: H. Lamat, M.P. Sauvant-Rochat, I. Tauveron, R. Bagheri, U.C. Ugbolue, S. Maqdasi, V. Navel, F. Dutheil

Publikováno v: Annales d'Endocrinologie. 83:371-372

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::17c814df3cb1ff7fea45abba29bcb07a
https://doi.org/10.1016/j.ando.2022.07.249

X chromosome gene dosage as a determinant of congenital malformations and of age-related comorbidity risk in patients with Turner syndrome, from childhood to early adulthood

Autor: Elodie Fiot, Delphine Zénaty, Priscilla Boizeau, Jérémie Haignere, Sophie Dos Santos, Juliane Léger, J C Carel, S Cabrol, P Chanson, S Christin-Maitre, C Courtillot, B Donadille, J Dulon, M Houang, M Nedelcu, I Netchine, M Polak, S Salenave, D Samara-Boustani, D Simon, P Touraine, M Viaud, H Bony, K Braun, R Desailloud, A M Bertrand, B Mignot, F Schillo, P Barat, V Kerlan, C Metz, E Sonnet, Y Reznik, V Ribault, H Carla, I Tauveron, C Bensignor, F Huet, B Verges, O Chabre, C Dupuis, A Spiteri, M Cartigny, C Stuckens, J Weill, A Lienhardt, C Naud-Saudreau, F Borson-Chazot, A Brac de la Perriere, M Pugeat, T Brue, R Reynaud, G Simonin, F Paris, C Sultan, B Leheup, G Weryha, S Baron, B Charbonnel, S Dubourdieu, E Baechler, P Fenichel, K Wagner, F Compain, H Crosnier, C Personnier, B Delemer, A C Hecart, P F Souchon, M De Kerdanet, F Galland, S Nivot-Adamiak, M Castanet, C Lecointre, O Richard, N Jeandidier, S Soskin, P Lecomte, M Pepin-Donat, P Pierre

Publikováno v: European Journal of Endocrinology
European Journal of Endocrinology, 2019, 180 (6), pp.397-406. ⟨10.1530/EJE-18-0878⟩
European Journal of Endocrinology, BioScientifica, 2019, 180 (6), pp.397-406. ⟨10.1530/EJE-18-0878⟩

ObjectiveTurner Syndrome is associated with several phenotypic conditions associated with a higher risk of subsequent comorbidity. We aimed to evaluate the prevalence of congenital malformations and the occurrence of age-related comorbid conditions a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::90141f9c76344ac051168fc9f8ff886a
https://doi.org/10.1530/eje-18-0878

Cinétique d’apparition du diabète post-transplantation dans une cohorte de 1825 patients greffés rénaux

Autor: Anne-Elisabeth Heng, M. Batisse-Lignier, J. Olabe, Bruno Pereira, C. Garrouste, I. Tauveron

Publikováno v: Néphrologie & Thérapeutique. 17:293-294

Introduction Le diabete sucre post-transplantation (PTDM) est une complication frequente de la greffe renale. La cinetique et les facteurs influencant l’apparition du PTDM sont mal definis. Description L’objectif de l’etude etait de determiner

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::b9f7247e1b3e1649f458ed454384ba64
https://doi.org/10.1016/j.nephro.2021.07.322