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Case report: Novel SIN3A loss-of-function variant as causative for hypogonadotropic hypogonadism in Witteveen-Kolk syndrome.
Front Genet. 2024 Mar 11;15:1354715. doi: 10.3389/fgene.2024.1354715. eCollection 2024.
Front Genet. 2024.
PMID: 38528912
Free PMC article.
An in vivo functional assay to characterize human STAT5B genetic variants during zebrafish development.
Landi E, Karabatas L, Rodríguez Gomez T, Salatino L, Scaglia P, Ramírez L, Keselman A, Braslavsky D, Sanguineti N, Pennisi P, Rey RA, Bergadá I, Jasper HG, Domené HM, Plazas PV, Domené S.
Landi E, et al. Among authors: sanguineti n.
Hum Mol Genet. 2023 Jul 20;32(15):2473-2484. doi: 10.1093/hmg/ddad078.
Hum Mol Genet. 2023.
PMID: 37162340
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[Osteoporosis-pseudoglioma Syndrome: a pediatric case of primary osteoporosis].
Braslavsky D, Scaglia P, Sanguineti N, Aza-Carmona M, Nevado Blanco J, Lapunzina Badia PD, Fernández MDC, Ruiz O, Carmona A, Szlago M, Arberas C, Cassinelli H, Heath K, Rey R, Bergadá I.
Braslavsky D, et al. Among authors: sanguineti n.
Arch Argent Pediatr. 2020 Jun;118(3):e300-e304. doi: 10.5546/aap.2020.e300.
Arch Argent Pediatr. 2020.
PMID: 32470270
Free article.
Spanish.
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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: sanguineti n.
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
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p.R209H GH1 variant challenges short stature assessment.
Sanguineti N, Braslavsky D, Scaglia PA, Keselman A, Ballerini MG, Ropelato MG, Suco S, Vishnopolska S, Berenstein AJ, Jasper H, Domené HM, Rey RA, Pérez Millán MI, Camper SA, Bergadá I.
Sanguineti N, et al.
Growth Horm IGF Res. 2020 Feb;50:23-26. doi: 10.1016/j.ghir.2019.11.002. Epub 2019 Dec 3.
Growth Horm IGF Res. 2020.
PMID: 31835104
Free PMC article.
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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: sanguineti nm.
Eur J Endocrinol. 2019 Nov;181(5):K43-K53. doi: 10.1530/EJE-19-0563.
Eur J Endocrinol. 2019.
PMID: 31539878
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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: sanguineti n.
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.
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