Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Schoenmakers, N"'
Autor:
Joustra, S.D., Heinen, C.A., Schoenmakers, N., Bonomi, M., Ballieux, B.E.P.B., Turgeon, M.O., Bernard, D.J., Fliers, E., Trotsenburg, A.S.P. van, Losekoot, M., Persani, L., Wit, J.M., Biermasz, N.R., Pereira, A.M., Oostdijk, W., IGSF Clinical Care Grp
Publikováno v:
Journal of Clinical Endocrinology and Metabolism, 101(4), 1627-1636
CONTEXT: Mutations in the immunoglobulin superfamily, member 1 (IGSF1) gene cause the X-linked IGSF1 deficiency syndrome consisting of central hypothyroidism, delayed pubertal testosterone rise, adult macroorchidism, variable prolactin deficiency, an
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::512dc070173c5419f92fba7db9f83147
https://hdl.handle.net/1887/112563
https://hdl.handle.net/1887/112563
Autor:
IGSF1 Clinical Care Group, Joustra, S D, Heinen, C A, Schoenmakers, N, Bonomi, M, Ballieux, B E P B, Turgeon, M-O, Bernard, D J, Fliers, E, van Trotsenburg, A S P, Losekoot, M, Persani, L, Wit, J M, Biermasz, N R, Pereira, A M, Oostdijk, W, De Schepper, Jean
CONTEXT: Mutations in the immunoglobulin superfamily, member 1 (IGSF1) gene cause the X-linked IGSF1 deficiency syndrome consisting of central hypothyroidism, delayed pubertal testosterone rise, adult macroorchidism, variable prolactin deficiency, an
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______3848::3d727dfbd910b6cd40e87018ce5ec031
https://doi.org/10.1210/jc.2015-3880
https://doi.org/10.1210/jc.2015-3880
Autor:
Maria Antonia Maffini, Valentina Cirello, I. Zamproni, Giovanna Weber, Marina Muzza, Laura Fugazzola, F. Gallo, Paolo Beck-Peccoz, K. Maruca, Luciano Beccaria, Soo-Mi Park, Luca Persani, Nadia Schoenmakers, Maria Cristina Vigone, Sarah Rabbiosi
Publikováno v:
The Journal of Clinical Endocrinology & Metabolism. 99:E544-E553
CONTEXT: Mutations in the DUOX2 gene have been associated with transient or permanent congenital hypothyroidism due to a dyshormonogenic defect. OBJECTIVE: This study aimed to verify the prevalence of DUOX2 mutations and the associated clinical featu