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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

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Pathologie mammaire de l'enfant

Autor: S. Daoud, M. Lawane, P.-F Souchon, Marie-Laurence Poli-Merol, F. Lefebvre

Publikováno v: EMC - Pédiatrie. 2:187-195

Resume La pathologie du sein de l'enfant recoupe plusieurs entites cliniques dont certaines ne sont que l'expression de variations physiologiques. La glande mammaire est constituee des trois elements qui sont le tissu palleal, la glande tubuloacineus

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9d45f6d5821c9e4535381ce8fcae458f
https://doi.org/10.1016/j.emcped.2005.03.001

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Patología mamaria en el niño

Autor: Marie-Laurence Poli-Merol, S. Daoud, P.-F Souchon, M. Lawane, F. Lefebvre

Publikováno v: EMC - Pediatría. 40:1-6

En la patologia infantil de la mama se relacionan varias entidades clinicas, algunas de las cuales solo son la expresion de variaciones fisiologicas. La glandula mamaria esta constituida por tres elementos: el tejido paleal, la glandula tubuloacinosa

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::353a812017bd91ba61497cfeab7f547f
https://doi.org/10.1016/s1245-1789(05)44257-2

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Adrenal enzyme impairment in neonates and adolescents treated with ritonavir and protease inhibitors for HIV exposure or infection

Autor: S. Blanche, Dulanjalee Kariyawasam, P. Frange, S. Parat, Kathleen Laborde, P.-F. Souchon, Michel Polak, Albane Simon

Publikováno v: Hormone research in paediatrics. 81(4)

Background: Human deficiency virus (HIV) protease inhibitors (PIs) are widely used drugs whose effects are pharmacologically enhanced by ritonavir, a potent cytochrome P450 inhibitor. We reported previously that prophylactic postnatal ritonavir-PI th

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::751a0bd521d5918b5e0f84b0e5d94e31
https://pubmed.ncbi.nlm.nih.gov/24577112

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Type 1 diabetic children have abnormal lipid profiles during pubertal years

Autor: M, Polak, P F, Souchon, K, Benali, N, Tubiana-Rufi, P, Czernichow

Publikováno v: Pediatric diabetes. 1(2)

To study the prevalence of hypercholesterolemia, hypertriglyceridemia and the relationship between metabolic control, pubertal status and plasma lipoprotein levels in children with diabetes mellitus.A cross-sectional study was conducted on 126 subjec

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::c9c83227f9e7df1d7606b6e29d774f0a
https://pubmed.ncbi.nlm.nih.gov/15016232

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