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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: domene s, domene h. Eur J Endocrinol. 2019 Nov;181(5):K43-K53. doi: 10.1530/EJE-19-0563. Eur J Endocrinol. 2019. PMID: 31539878
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: domene hm, domene s. 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. Among authors: domene s, domene h. 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.
Genetic Mutations in the GH/IGF Axis.
Domené S, Domené HM. Domené S, et al. Among authors: domene hm. Pediatr Endocrinol Rev. 2018 Sep;16(Suppl 1):39-62. doi: 10.17458/per.vol16.2018.dd.geneticmutationsghigf. Pediatr Endocrinol Rev. 2018. PMID: 30378782
A novel heterozygous STAT5B variant in a patient with short stature and partial growth hormone insensitivity (GHI).
Ramírez L, Sanguineti N, Scaglia P, Keselman A, Ballerini MG, Karabatas L, Landi E, Castro J, Domené S, Pennisi P, Jasper H, Rey RA, Vázquez M, Domené H, Bergadá I, Gutiérrez M. Ramírez L, et al. Among authors: domene s, domene h. Growth Horm IGF Res. 2020 Feb;50:61-70. doi: 10.1016/j.ghir.2019.12.005. Epub 2019 Dec 27. Growth Horm IGF Res. 2020. PMID: 31902742
Expression of acid-labile subunit (ALS) in developing and adult zebrafish and its role in dorso-ventral patterning during development.
Landi E, Karabatas L, Scaglia P, Pisciottano F, Gutiérrez M, Ramírez L, Bergadá I, Rey RA, Jasper HG, Domené HM, Plazas PV, Domené S. Landi E, et al. Among authors: domene hm, domene s. Gen Comp Endocrinol. 2020 Dec 1;299:113591. doi: 10.1016/j.ygcen.2020.113591. Epub 2020 Aug 21. Gen Comp Endocrinol. 2020. PMID: 32828812
44 results