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Year Number of Results
2003 1
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2023 1
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Page 1
Genetic Mutations in the GH/IGF Axis.
Domené S, Domené HM. Domené S, et al. Pediatr Endocrinol Rev. 2018 Sep;16(Suppl 1):39-62. doi: 10.17458/per.vol16.2018.dd.geneticmutationsghigf. Pediatr Endocrinol Rev. 2018. PMID: 30378782
Enhancer turnover and conserved regulatory function in vertebrate evolution.
Domené S, Bumaschny VF, de Souza FS, Franchini LF, Nasif S, Low MJ, Rubinstein M. Domené S, et al. Philos Trans R Soc Lond B Biol Sci. 2013 Nov 11;368(1632):20130027. doi: 10.1098/rstb.2013.0027. Print 2013 Dec 19. Philos Trans R Soc Lond B Biol Sci. 2013. PMID: 24218639 Free PMC article.
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. 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
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. 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.
19 results