Zobrazeno 1 - 10
of 296
pro vyhledávání: '"Philippe, Touraine"'
Autor:
Veronica Mericq, German Iñiguez, Graziella Pinto, Laura G. Gonzalez-Briceño, Dinane Samara-Boustani, Caroline Thalassinos, Isabelle Flechtner, Athanasia Stoupa, Jacques Beltrand, Alix Besançon, Séverine Brabant, Khaldoun Ghazal, Monique Leban, Philippe Touraine, Gabriel Cavada, Michel Polak, Dulanjalee Kariyawasam
Publikováno v:
Frontiers in Endocrinology, Vol 14 (2023)
ObjectiveIsolated childhood growth hormone deficiency (GHD) can persist into adulthood, and re-testing at the transition period is needed to determine whether continued growth hormone therapy is indicated. Here, our objective was to identify predicto
Externí odkaz:
https://doaj.org/article/a6b9d575ff7443c8b456833f27974b5f
Autor:
Luca Persani, Martine Cools, Stamatina Ioakim, S Faisal Ahmed, Silvia Andonova, Magdalena Avbelj-Stefanija, Federico Baronio, Jerome Bouligand, Hennie T Bruggenwirth, Justin H Davies, Elfride De Baere, Iveta Dzivite-Krisane, Paula Fernandez-Alvarez, Alexander Gheldof, Claudia Giavoli, Claus H Gravholt, Olaf Hiort, Paul-Martin Holterhus, Anders Juul, Csilla Krausz, Kristina Lagerstedt-Robinson, Ruth McGowan, Uta Neumann, Antonio Novelli, Xavier Peyrassol, Leonidas A Phylactou, Julia Rohayem, Philippe Touraine, Dineke Westra, Valeria Vezzoli, Raffaella Rossetti
Publikováno v:
Endocrine Connections, Vol 11, Iss 22, Pp 1-7 (2022)
Differences of sex development and maturation (SDM) represent a heterogeneous puzzle of rare conditions with a large genetic component whose management and treatment could be improved by an accurate classification of underlying molecular conditions,
Externí odkaz:
https://doaj.org/article/2d8fa80d5d96414aaaa8f97a72aee4ac
Publikováno v:
Endocrine Connections, Vol 11, Iss 12, Pp 1-8 (2022)
Objective: Growth hormone (GH) and insulin-like growth factors (IGFs) are not mandatory for reproductive life, but data suggest their synergistic action with follicle-stimulating hormone throughout ovarian folliculogenesis. We aimed to evaluate the a
Externí odkaz:
https://doaj.org/article/dc85d075965449efad5a5c6193821f30
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
Autor:
Richard J. Auchus, Carine Courtillot, Adrian Dobs, Diala El-Maouche, Henrik Falhammar, Andre Lacroix, Mallory Farrar, Conor O’Donoghue, Milena Anatchkova, Katelyn Cutts, Natalie Taylor, Chuck Yonan, Mark Lamotte, Philippe Touraine
Publikováno v:
Frontiers in Endocrinology, Vol 13 (2022)
BackgroundClassic congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is a rare autosomal recessive condition characterized by cortisol deficiency and excess androgen production. The current standard of care is glucocorticoid (GC) t
Externí odkaz:
https://doaj.org/article/9eb8a839c4344bdd92fae5f5c97a950b
Autor:
Isabelle Flechtner, Magali Viaud, Dulanjalee Kariyawasam, Marie Perrissin-Fabert, Maud Bidet, Anne Bachelot, Philippe Touraine, Philippe Labrune, Pascale de Lonlay, Michel Polak
Publikováno v:
Endocrine Connections, Vol 10, Iss 2, Pp 240-247 (2021)
Classic galactosemia is a rare inborn error of galactose metabolism with a birth prevalence of about 1/30,000–60,000. Long-term complications occurring despite dietary treatment consist of premature ovarian insufficiency (POI) and neurodevelop ment
Externí odkaz:
https://doaj.org/article/f71757f73734479bb0e72a091d404a42
Autor:
Enora Le Roux, Florence Menesguen, Isabelle Tejedor, Marc Popelier, Marine Halbron, Pauline Faucher, Sabine Malivoir, Graziella Pinto, Juliane Léger, Stephane Hatem, Michel Polak, Christine Poitou, Philippe Touraine
Publikováno v:
Endocrine Connections, Vol 10, Iss 1, Pp 21-28 (2021)
Objective: The transition from paediatric to adult medicine involves risks of poor patient outcomes and of significant losses of patients to follow up. The research aimed to analyse the implementation in an initial cohort of patients of a new program
Externí odkaz:
https://doaj.org/article/1dca0c48984f4ee5a33b613b67f4e86b
Autor:
Salwan Maqdasy, Bertrand Barres, Gaelle Salaun, Marie Batisse-Lignier, Celine Pebrel-Richard, Kelvin H. M. Kwok, André Labbé, Philippe Touraine, Florence Brugnon, Igor Tauveron
Publikováno v:
Basic and Clinical Andrology, Vol 30, Iss 1, Pp 1-7 (2020)
Résumé Introduction Une puberté précoce centrale idiopathique (PPCI) est. extrêmement rare chez le garçon. Sa prévalence chez les garçons présentant un syndrome de Klinefelter (SK) est méconnue. Nous décrivons un cas rare de PPCI chez un g
Externí odkaz:
https://doaj.org/article/ced710e0b89549f6a053b46b3bbb2ec0
Autor:
Virginie Grouthier, Zeina Chakhtoura, Isabelle Tejedor, Yasmina Badachi, Vincent Goffin, Philippe Touraine
Publikováno v:
Endocrine Connections, Vol 9, Iss 6, Pp 570-577 (2020)
Objective: Multiple fibroadenomas (MFA) of the breast is a rare benign dis ease, thus its natural history is poorly understood. The aim of our study was to describe the radiological evolution of MFA and to evaluate the influence of d ifferent factors
Externí odkaz:
https://doaj.org/article/2abd14c9a0f14d21838bfa1129869749