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Case report: Novel SIN3A loss-of-function variant as causative for hypogonadotropic hypogonadism in Witteveen-Kolk syndrome.
Correa Brito L, Keselman A, Villegas F, Scaglia P, Esnaola Azcoiti M, Castro S, Sanguineti N, Izquierdo A, Maier M, Bergadá I, Arberas C, Rey RA, Ropelato MG. Correa Brito L, et al. Among authors: scaglia p. Front Genet. 2024 Mar 11;15:1354715. doi: 10.3389/fgene.2024.1354715. eCollection 2024. Front Genet. 2024. PMID: 38528912 Free PMC article.
Delayed Puberty Due to a WDR11 Truncation at Its N-Terminal Domain Leading to a Mild Form of Ciliopathy Presenting With Dissociated Central Hypogonadism: Case Report.
Castro S, Brunello FG, Sansó G, Scaglia P, Esnaola Azcoiti M, Izquierdo A, Villegas F, Bergadá I, Ropelato MG, Martí MA, Rey RA, Grinspon RP. Castro S, et al. Among authors: scaglia p. Front Pediatr. 2022 Jun 3;10:887658. doi: 10.3389/fped.2022.887658. eCollection 2022. Front Pediatr. 2022. PMID: 35722485 Free PMC article.
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: scaglia pa. Eur J Endocrinol. 2019 Nov;181(5):K43-K53. doi: 10.1530/EJE-19-0563. Eur J Endocrinol. 2019. PMID: 31539878
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. Among authors: scaglia pa. 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.
[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: scaglia p. Arch Argent Pediatr. 2020 Jun;118(3):e300-e304. doi: 10.5546/aap.2020.e300. Arch Argent Pediatr. 2020. PMID: 32470270 Free article. Spanish.
Identification of a Novel Variant in Myelin Regulatory Growth Factor by Next-Generation Sequencing Led to the Detection of a Clinically Inapparent Congenital Heart Defect in a Patient with a 46,XY Disorder of Sex Development.
Correa Brito L, Grinspon RP, Lopez Dacal J, Scaglia P, Esnaola Azcoiti M, Izquierdo A, Ropelato MG, Rey RA. Correa Brito L, et al. Among authors: scaglia p. J Pers Med. 2023 Jul 19;13(7):1158. doi: 10.3390/jpm13071158. J Pers Med. 2023. PMID: 37511771 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: scaglia p. 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
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. Clin Endocrinol (Oxf). 2017 Sep;87(3):300-311. doi: 10.1111/cen.13361. Epub 2017 Jun 14. Clin Endocrinol (Oxf). 2017. PMID: 28445628
30 results