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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: ballerini mg. 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: ballerini mg. 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
Early onset of primary hypogonadism revealed by serum anti-Müllerian hormone determination during infancy and childhood in trisomy 21.
Grinspon RP, Bedecarrás P, Ballerini MG, Iñiguez G, Rocha A, Mantovani Rodrigues Resende EA, Brito VN, Milani C, Figueroa Gacitúa V, Chiesa A, Keselman A, Gottlieb S, Borges MF, Ropelato MG, Picard JY, Codner E, Rey RA; LAREP Group. Grinspon RP, et al. Among authors: ballerini mg. Int J Androl. 2011 Oct;34(5 Pt 2):e487-98. doi: 10.1111/j.1365-2605.2011.01210.x. Epub 2011 Aug 10. Int J Androl. 2011. PMID: 21831236
A novel missense mutation in the SH2 domain of the STAT5B gene results in a transcriptionally inactive STAT5b associated with severe IGF-I deficiency, immune dysfunction, and lack of pulmonary disease.
Scaglia PA, Martínez AS, Feigerlová E, Bezrodnik L, Gaillard MI, Di Giovanni D, Ballerini MG, Jasper HG, Heinrich JJ, Fang P, Domené HM, Rosenfeld RG, Hwa V. Scaglia PA, et al. Among authors: ballerini mg. J Clin Endocrinol Metab. 2012 May;97(5):E830-9. doi: 10.1210/jc.2011-2554. Epub 2012 Mar 14. J Clin Endocrinol Metab. 2012. PMID: 22419735
40 results