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International Guidelines for the Diagnosis and Management of Hyperinsulinism.
De Leon DD, Arnoux JB, Banerjee I, Bergada I, Bhatti T, Conwell LS, Fu J, Flanagan SE, Gillis D, Meissner T, Mohnike K, Pasquini TLS, Shah P, Stanley CA, Vella A, Yorifuji T, Thornton PS. De Leon DD, et al. Among authors: bergada i. Horm Res Paediatr. 2024;97(3):279-298. doi: 10.1159/000531766. Epub 2023 Jul 14. Horm Res Paediatr. 2024. PMID: 37454648 Free article. Review.
Exome Sequencing has a high diagnostic rate in sporadic congenital hypopituitarism and reveals novel candidate genes.
Martinez-Mayer J, Vishnopolska S, Perticarari C, Garcia LI, Hackbartt M, Martinez M, Zaiat J, Jacome-Alvarado A, Braslavsky D, Keselman A, Bergadá I, Marino R, Ramírez P, Garrido NP, Ciaccio M, Di Palma MI, Belgorosky A, Forclaz MV, Benzrihen G, D'Amato S, Cirigliano ML, Miras M, Nuñez AP, Castro L, Mallea-Gil MS, Ballarino C, Latorre-Villacorta L, Casiello AC, Hernandez C, Figueroa V, Alonso G, Morin A, Guntsche Z, Lee H, Lee E, Song Y, Marti MA, Perez-Millan MI. Martinez-Mayer J, et al. Among authors: bergada i. J Clin Endocrinol Metab. 2024 May 8:dgae320. doi: 10.1210/clinem/dgae320. Online ahead of print. J Clin Endocrinol Metab. 2024. PMID: 38717911
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: bergada i. Front Genet. 2024 Mar 11;15:1354715. doi: 10.3389/fgene.2024.1354715. eCollection 2024. Front Genet. 2024. PMID: 38528912 Free PMC article.
Testicular dysfunction at diagnosis in children and teenagers with haematopoietic malignancies improves after initial chemotherapy.
Lopez Dacal J, Prada S, Correa Brito L, Ropelato MG, Ballerini MG, Rodriguez ME, Gutiérrez ME, Soria M, Morán L, Ferraro C, Bedecarrás P, Drelichman G, Aversa L, Bergadá I, Rey RA, Grinspon RP. Lopez Dacal J, et al. Among authors: bergada i. Front Endocrinol (Lausanne). 2023 May 16;14:1135467. doi: 10.3389/fendo.2023.1135467. eCollection 2023. Front Endocrinol (Lausanne). 2023. PMID: 37260445 Free PMC article.
102 results