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Page 1
[Monogenic obesity: pathophysiology, diagnosis and treatment].
Andrés ME, Armeno M, Alonso E, Braslavsky D, Garrido V, González X, Grimberg N, Hernández J, Miari F, Mouge C, Ortiz E, Patrono A, Poli P, Politei J, Roussos A, Tonietti M, Vago L, Kovalskys I. Andrés ME, et al. Among authors: braslavsky d. Medicina (B Aires). 2024;84(6):1191-1205. Medicina (B Aires). 2024. PMID: 39666413 Free article. Review. Spanish.
Exome Sequencing Has a High Diagnostic Rate in Sporadic Congenital Hypopituitarism and Reveals Novel Candidate Genes.
Martinez-Mayer J, Vishnopolska S, Perticarari C, Iglesias Garcia L, Hackbartt M, Martinez M, Zaiat J, Jacome-Alvarado A, Braslavsky D, Keselman A, Bergadá I, Marino R, Ramírez P, Pérez Garrido N, Ciaccio M, Di Palma MI, Belgorosky A, Forclaz MV, Benzrihen G, D'Amato S, Cirigliano ML, Miras M, Paez Nuñez A, 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: braslavsky d. J Clin Endocrinol Metab. 2024 Nov 18;109(12):3196-3210. doi: 10.1210/clinem/dgae320. J Clin Endocrinol Metab. 2024. PMID: 38717911
Nocturnal Salivary Cortisol Is an Accurate Non-Invasive Test to Assess Endogenous Hypercortisolism in Children with Obesity and a Clinical Phenotype Suspicious for Cushing's Syndrome.
Ballerini MG, Freire AV, Rodríguez ME, Brenzoni L, Daga L, Castro L, Arias Cau AC, Testa G, Gil M, Braslavsky D, Vieites A, Keselman A, Bergadá I, Arcari AJ, Ropelato MG. Ballerini MG, et al. Among authors: braslavsky d. Horm Res Paediatr. 2024 Aug 9:1-9. doi: 10.1159/000540785. Online ahead of print. Horm Res Paediatr. 2024. PMID: 39128457 Free 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. Arch Argent Pediatr. 2020 Jun;118(3):e300-e304. doi: 10.5546/aap.2020.e300. Arch Argent Pediatr. 2020. PMID: 32470270 Free article. Spanish.
A retrospective analysis of endocrine disease in sphingosine-1-phosphate lyase insufficiency: case series and literature review.
Maharaj A, Kwong R, Williams J, Smith C, Storr H, Krone R, Braslavsky D, Clemente M, Ram N, Banerjee I, Çetinkaya S, Buonocore F, Güran T, Achermann JC, Metherell L, Prasad R. Maharaj A, et al. Among authors: braslavsky d. Endocr Connect. 2022 Jul 25;11(8):e220250. doi: 10.1530/EC-22-0250. Print 2022 Aug 1. Endocr Connect. 2022. PMID: 35904228 Free PMC article. Review.
Sertoli cell markers in the diagnosis of paediatric male hypogonadism.
Grinspon RP, Loreti N, Braslavsky D, Bedecarrás P, Ambao V, Gottlieb S, Bergadá I, Campo SM, Rey RA. Grinspon RP, et al. Among authors: braslavsky d. J Pediatr Endocrinol Metab. 2012;25(1-2):3-11. doi: 10.1515/jpem-2011-0453. J Pediatr Endocrinol Metab. 2012. PMID: 22570945 Review.
Comprehensive Identification of Pathogenic Gene Variants in Patients With Neuroendocrine Disorders.
Vishnopolska SA, Mercogliano MF, Camilletti MA, Mortensen AH, Braslavsky D, Keselman A, Bergadá I, Olivieri F, Miranda L, Marino R, Ramírez P, Pérez Garrido N, Patiño Mejia H, Ciaccio M, Di Palma MI, Belgorosky A, Martí MA, Kitzman JO, Camper SA, Pérez-Millán MI. Vishnopolska SA, et al. Among authors: braslavsky d. J Clin Endocrinol Metab. 2021 Jun 16;106(7):1956-1976. doi: 10.1210/clinem/dgab177. J Clin Endocrinol Metab. 2021. PMID: 33729509 Free PMC article.
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: braslavsky d. Clin Endocrinol (Oxf). 2017 Sep;87(3):300-311. doi: 10.1111/cen.13361. Epub 2017 Jun 14. Clin Endocrinol (Oxf). 2017. PMID: 28445628
53 results