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

Developmental milestones at one year for the offspring of mothers with congenital hypothyroidism: a population-based study

Autor: Barbara Heude, Sophie Dos Santos, Marie-Aline Charles, Juliane Léger, Béatrice Larroque, Emmanuel Ecosse, Anne Forhan

Publikováno v: European Journal of Endocrinology. 178:471-480

Objective Maternal thyroid dysfunction during pregnancy is associated with neurodevelopmental impairment in the offspring. No data are currently available for the offspring of patients treated early for congenital hypothyroidism (CH). The aim of this

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f2f31184a32cd31efa14dc1b4326d909
https://doi.org/10.1530/eje-17-0855

O papel mediador da satisfação das necessidades psicológicas básicas na relação entre clima parental e desenvolvimento positivo na adolescença

Autor: Moreira, Cindy Sophie dos Santos

Publikováno v: Repositório Científico de Acesso Aberto de Portugal
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP

Sustentando-se na teoria da autodeterminação, este estudo investiga o papel mediador da satisfação das necessidades psicológicas básicas na relação entre o clima parental e indicadores de desenvolvimento positivo na adolescência, nomeadament

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::59742c9082974ed845f1ae1065ec3c8c

All-Cause and Disease-specific Mortality and Morbidity in Patients With Congenital Hypothyroidism Treated Since the Neonatal Period: A National Population-based Study

Autor: Juliane Léger, Sophie Dos Santos, Ahlam Azar-Kolakez, Emmanuel Ecosse

Publikováno v: The Journal of Clinical Endocrinology & Metabolism. 98:785-793

Little is known about the long-term health of patients treated for congenital hypothyroidism since the neonatal period.To evaluate the causes of mortality and comorbidity in a population-based registry of young adult patients.All 1772 eligible patien

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c321919c879a28d4d48a8e124416df37
https://doi.org/10.1210/jc.2012-2731

Fecundity in Young Adults Treated Early for Congenital Hypothyroidism Is Related to the Initial Severity of the Disease: A Longitudinal Population-Based Cohort Study

Autor: Emmanuel Ecosse, Juliane Léger, Béatrice Larroque, Yasmine Hassani, Sophie Dos Santos, Jean Bouyer

Publikováno v: The Journal of Clinical Endocrinology & Metabolism. 97:1897-1904

Untreated hypothyroidism is known to impair fecundity. Patients treated early for congenital hypothyroidism (CH) have yet to be evaluated in adulthood, because screening programs have been running for only the last 30 years in most industrialized cou

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::afdb870d9ede95290c493ffff47d7bba
https://doi.org/10.1210/jc.2011-3286