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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. Eur J Endocrinol. 2019 Nov;181(5):K43-K53. doi: 10.1530/EJE-19-0563. Eur J Endocrinol. 2019. PMID: 31539878
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. 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
Heterozygous IGFALS gene variants in idiopathic short stature and normal children: impact on height and the IGF system.
Domené HM, Scaglia PA, Martínez AS, Keselman AC, Karabatas LM, Pipman VR, Bengolea SV, Guida MC, Ropelato MG, Ballerini MG, Lescano EM, Blanco MA, Heinrich JJ, Rey RA, Jasper HG. Domené HM, et al. Among authors: keselman ac. Horm Res Paediatr. 2013;80(6):413-23. doi: 10.1159/000355412. Epub 2013 Dec 6. Horm Res Paediatr. 2013. PMID: 24335034
45 results