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A homozygous mutation in the highly conserved Tyr60 of the mature IGF1 peptide broadens the spectrum of IGF1 deficiency.
Keselman AC, Martin A, Scaglia PA, Sanguineti NM, Armando R, Gutiérrez M, Braslavsky D, Ballerini MG, Ropelato MG, Ramirez L, Landi E, Domené S, Castro JF, Cassinelli H, Casali B, Del Rey G, Barros ÁC, Nevado Blanco J, Domené H, Jasper H, Arberas C, Rey RA, Lapunzina-Badía P, Bergadá I, Pennisi PA. Keselman AC, et al. Among authors: rey ra. Eur J Endocrinol. 2019 Nov;181(5):K43-K53. doi: 10.1530/EJE-19-0563. Eur J Endocrinol. 2019. PMID: 31539878
Basal follicle-stimulating hormone and peak gonadotropin levels after gonadotropin-releasing hormone infusion show high diagnostic accuracy in boys with suspicion of hypogonadotropic hypogonadism.
Grinspon RP, Ropelato MG, Gottlieb S, Keselman A, Martínez A, Ballerini MG, Domené HM, Rey RA. Grinspon RP, et al. Among authors: rey ra. J Clin Endocrinol Metab. 2010 Jun;95(6):2811-8. doi: 10.1210/jc.2009-2732. Epub 2010 Apr 6. J Clin Endocrinol Metab. 2010. PMID: 20371659
Are Klinefelter boys hypogonadal?
Rey RA, Gottlieb S, Pasqualini T, Bastida MG, Grinspon RP, Campo SM, Bergadá I. Rey RA, et al. Acta Paediatr. 2011 Jun;100(6):830-8. doi: 10.1111/j.1651-2227.2010.02137.x. Epub 2011 Feb 3. Acta Paediatr. 2011. PMID: 21214886 Review.
218 results