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Page 1
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: karabatas lm. Horm Res Paediatr. 2013;80(6):413-23. doi: 10.1159/000355412. Epub 2013 Dec 6. Horm Res Paediatr. 2013. PMID: 24335034
Characterization of four Latin American families confirms previous findings and reveals novel features of acid-labile subunit deficiency.
Scaglia PA, Keselman AC, Braslavsky D, Martucci LC, Karabatas LM, Domené S, Gutiérrez ML, Ballerini MG, Ropelato MG, Spinola-Castro A, Siviero-Miachon AA, Tartuci JS, Rodríguez Azrak MS, Rey RA, Jasper HG, Bergadá I, Domené HM. Scaglia PA, et al. Among authors: karabatas lm. Clin Endocrinol (Oxf). 2017 Sep;87(3):300-311. doi: 10.1111/cen.13361. Epub 2017 Jun 14. Clin Endocrinol (Oxf). 2017. PMID: 28445628
Partial growth hormone insensitivity and dysregulatory immune disease associated with de novo germline activating STAT3 mutations.
Gutiérrez M, Scaglia P, Keselman A, Martucci L, Karabatas L, Domené S, Martin A, Pennisi P, Blanco M, Sanguineti N, Bezrodnik L, Di Giovanni D, Caldirola MS, Azcoiti ME, Gaillard MI, Denson LA, Zhang K, Husami A, Yayah Jones NH, Hwa V, Revale S, Vázquez M, Jasper H, Kumar A, Domené H. Gutiérrez M, et al. Mol Cell Endocrinol. 2018 Sep 15;473:166-177. doi: 10.1016/j.mce.2018.01.016. Epub 2018 Feb 3. Mol Cell Endocrinol. 2018. PMID: 29378236 Free PMC article.
Unbound (bioavailable) IGF1 enhances somatic growth.
Elis S, Wu Y, Courtland HW, Cannata D, Sun H, Beth-On M, Liu C, Jasper H, Domené H, Karabatas L, Guida C, Basta-Pljakic J, Cardoso L, Rosen CJ, Frystyk J, Yakar S. Elis S, et al. Dis Model Mech. 2011 Sep;4(5):649-58. doi: 10.1242/dmm.006775. Epub 2011 May 31. Dis Model Mech. 2011. PMID: 21628395 Free PMC article.
28 results