Zobrazeno 1 - 10
of 149
pro vyhledávání: '"Sophie CHRISTIN-MAITRE"'
Autor:
Bruno Donadille, Sonja Janmaat, Héléna Mosbah, Inès Belalem, Sophie Lamothe, Mariana Nedelcu, Anne-Sophie Jannot, Sophie Christin-Maitre, Bruno Fève, Camille Vatier, Corinne Vigouroux
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-10 (2024)
Abstract Background Rare syndromes of lipodystrophy and insulin-resistance display heterogeneous clinical expressions. Their early recognition, diagnosis and management are required to avoid long-term complications. Objective We aimed to evaluate the
Externí odkaz:
https://doaj.org/article/a944b8bd5462401bb7212a8e0c58a33c
Autor:
Elodie Fiot, Bertille Alauze, Bruno Donadille, Dinane Samara-Boustani, Muriel Houang, Gianpaolo De Filippo, Anne Bachelot, Clemence Delcour, Constance Beyler, Emilie Bois, Emmanuelle Bourrat, Emmanuel Bui Quoc, Nathalie Bourcigaux, Catherine Chaussain, Ariel Cohen, Martine Cohen-Solal, Sabrina Da Costa, Claire Dossier, Stephane Ederhy, Monique Elmaleh, Laurence Iserin, Hélène Lengliné, Armelle Poujol-Robert, Dominique Roulot, Jerome Viala, Frederique Albarel, Elise Bismuth, Valérie Bernard, Claire Bouvattier, Aude Brac, Patricia Bretones, Nathalie Chabbert-Buffet, Philippe Chanson, Regis Coutant, Marguerite de Warren, Béatrice Demaret, Lise Duranteau, Florence Eustache, Lydie Gautheret, Georges Gelwane, Claire Gourbesville, Mickaël Grynberg, Karinne Gueniche, Carina Jorgensen, Veronique Kerlan, Charlotte Lebrun, Christine Lefevre, Françoise Lorenzini, Sylvie Manouvrier, Catherine Pienkowski, Rachel Reynaud, Yves Reznik, Jean-Pierre Siffroi, Anne-Claude Tabet, Maithé Tauber, Vanessa Vautier, Igor Tauveron, Sebastien Wambre, Delphine Zenaty, Irène Netchine, Michel Polak, Philippe Touraine, Jean-Claude Carel, Sophie Christin-Maitre, Juliane Léger
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss S1, Pp 1-39 (2022)
Abstract Turner syndrome (TS; ORPHA 881) is a rare condition in which all or part of one X chromosome is absent from some or all cells. It affects approximately one in every 1/2500 liveborn girls. The most frequently observed karyotypes are 45,X (40
Externí odkaz:
https://doaj.org/article/47d7e0d1bd19414b82a3ff48728cebb1
Autor:
Wafa Kallali, Claude Messiaen, Roumaisah Saïdi, Soucounda Lessim, Magali Viaud, Jerome Dulon, Mariana Nedelcu, Dinane Samara, Muriel Houang, Bruno Donadille, Carine Courtillot, GianPaolo de Filippo, Jean-Claude Carel, Sophie Christin-Maitre, Philippe Touraine, Irene Netchine, Michel Polak, Juliane Léger
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-9 (2021)
Abstract Background For chronic congenital endocrine conditions, age at diagnosis is a key issue with implications for optimal management and psychological concerns. These conditions are associated with an increase in the risk of comorbid conditions,
Externí odkaz:
https://doaj.org/article/79b41a6fc9394c23a15be96f2a7348c6
Publikováno v:
Endocrine Connections, Vol 7, Iss 3, Pp 395-402 (2018)
Human 3 beta-hydroxysteroid dehydrogenase deficiency (3b-HSD) is a very rare form of congenital adrenal hyperplasia resulting from HSD3B2 gene mutations. The estimated prevalence is less than 1/1,000,000 at birth. It leads to steroidogenesis impairme
Externí odkaz:
https://doaj.org/article/83136e7739774b14be9259381f100bcf
Autor:
Héléna Mosbah, Camille Vatier, Franck Boccara, Isabelle Jéru, Olivier Lascols, Marie-Christine Vantyghem, Bruno Fève, Bruno Donadille, Elisabeth Sarrazin, Sophie Benabbou, Jocelyn Inamo, Stéphane Ederhy, Ariel Cohen, Barbara Neraud, Pascale Richard, Fabien Picard, Sophie Christin-Maitre, Alban Redheuil, Karim Wahbi, Corinne Vigouroux
Publikováno v:
Cells, Vol 9, Iss 3, p 765 (2020)
Variants in LMNA, encoding A-type lamins, are responsible for laminopathies including muscular dystrophies, lipodystrophies, and progeroid syndromes. Cardiovascular laminopathic involvement is classically described as cardiomyopathy in striated muscl
Externí odkaz:
https://doaj.org/article/1e41fc480ec24cd799930f7d67165996
Autor:
Sandrine Caburet, Petra Zavadakova, Ziva Ben-Neriah, Kamal Bouhali, Aurélie Dipietromaria, Céline Charon, Céline Besse, Paul Laissue, Vered Chalifa-Caspi, Sophie Christin-Maitre, Daniel Vaiman, Giovanni Levi, Reiner A Veitia, Marc Fellous
Publikováno v:
PLoS ONE, Vol 7, Iss 3, p e33412 (2012)
BACKGROUND: The human condition known as Premature Ovarian Failure (POF) is characterized by loss of ovarian function before the age of 40. A majority of POF cases are sporadic, but 10-15% are familial, suggesting a genetic origin of the disease. Alt
Externí odkaz:
https://doaj.org/article/06c5913e0dc14403ac36ee9c837b2c4d
Publikováno v:
Annales d'Endocrinologie. 84:308-315
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b492cc2510b6296ae03994ef8257e1d4
https://doi.org/10.1016/j.ando.2022.11.004
https://doi.org/10.1016/j.ando.2022.11.004
Autor:
Daphné Karila, Bruno Donadille, Juliane Léger, Claire Bouvattier, Anne Bachelot, Veronique Kerlan, Sophie Catteau-Jonard, Sylvie Salenave, Frédérique Albarel, Claire Briet, Regis Coutant, Aude Brac De La Perriere, Alexander Valent, Jean-Pierre Siffroi, Sophie Christin-Maitre
Publikováno v:
European Journal of Endocrinology
European Journal of Endocrinology, 2022, pp.EJE-22-0593. ⟨10.1530/EJE-22-0593⟩
European Journal of Endocrinology, 2022, pp.EJE-22-0593. ⟨10.1530/EJE-22-0593⟩
Introduction A gonadectomy is currently recommended in patients with Turner syndrome (TS) and a 45,X/46,XY karyotype, due to a potential risk of gonadoblastoma (GB). However, the quality of evidence behind this recommendation is low. Objective This s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::59be5415c6121a5574546532deaabe89
https://doi.org/10.1530/eje-22-0593
https://doi.org/10.1530/eje-22-0593
Publikováno v:
Annales d'Endocrinologie. 83:155-158
Male infertility contributes to 50% of all cases of infertility. The main cause is low quality and quantity of sperm. In humans, spermatogenesis starts at the beginning of puberty and lasts lifelong. It is under the control of FSH and testicular andr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::70671c8f372a8406372bb79d1c574a66
https://doi.org/10.1016/j.ando.2022.04.010
https://doi.org/10.1016/j.ando.2022.04.010
Publikováno v:
Annales d'Endocrinologie
Annales d'Endocrinologie, Elsevier Masson, 2022, 83 (3), pp.199-202. ⟨10.1016/j.ando.2022.04.004⟩
Annales d'Endocrinologie, Elsevier Masson, 2022, 83 (3), pp.199-202. ⟨10.1016/j.ando.2022.04.004⟩
International audience; Several lines of evidence show that gonadal functions and insulin sensitivity display multifaceted relationships, which extend far beyond the well-known association between polycystic ovary syndrome (PCOS), obesity, and metabo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::42ab50002a88fef2c43156e51e3551d2
https://doi.org/10.1016/j.ando.2022.04.004
https://doi.org/10.1016/j.ando.2022.04.004