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Akademický článek

Diagnostic challenges in pediatric Cushing's disease associated with chronic renal failure: a report of three patients.

Autor: Martínez Castillo I; Department of Endocrinology, Hospital de Pediatría J.P. Garrahan, Buenos Aires, Argentina., Aziz M; Department of Endocrinology, Hospital de Pediatría J.P. Garrahan, Buenos Aires, Argentina., Di Palma I; Department of Endocrinology, Hospital de Pediatría J.P. Garrahan, Buenos Aires, Argentina., López L; Department of Nephrology, Hospital de Pediatría J.P. Garrahan, Buenos Aires, Argentina., Chaparro A; Department of Nephrology, Hospital de Pediatría J.P. Garrahan, Buenos Aires, Argentina., González Ramos J; Department of Neurosurgery, Hospital de Pediatría J.P. Garrahan, Buenos Aires, Argentina., Mansilla C; Department of Ophthalmology, Hospital de Pediatría J.P. Garrahan, Buenos Aires, Argentina., Lubienecki F; Department of Pathology, Hospital de Pediatría J.P. Garrahan, Buenos Aires, Argentina., Lamas G; Department of Pathology, Hospital de Pediatría J.P. Garrahan, Buenos Aires, Argentina., Rugilo CA; Department of Neuroimaging, Hospital de Pediatría J.P. Garrahan, Buenos Aires, Argentina., Lazzatti JM; Endocrinology Laboratory, Hospital de Pediatría J.P. Garrahan, Buenos Aires, Argentina., Ciaccio M; Department of Endocrinology, Hospital de Pediatría J.P. Garrahan, Buenos Aires, Argentina., Gil S; Department of Endocrinology, Hospital de Pediatría J.P. Garrahan, Buenos Aires, Argentina.

Publikováno v: Journal of pediatric endocrinology & metabolism : JPEM [J Pediatr Endocrinol Metab] 2024 Nov 19. Date of Electronic Publication: 2024 Nov 19.

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Akademický článek

Preserved fertility in a patient with a 46,XY disorder of sex development due to a new heterozygous mutation in the NR5A1/SF-1 gene: evidence of 46,XY and 46,XX gonadal dysgenesis phenotype variability in multiple members of an affected kindred.

Autor: Ciaccio M; Endocrinology Service, Hospital de Pediatría Garrahan, Buenos Aires, Argentina., Costanzo M, Guercio G, De Dona V, Marino R, Ramirez PC, Galeano J, Warman DM, Berensztein E, Saraco N, Baquedano MS, Chaler E, Maceiras M, Lazzatti JM, Rivarola MA, Belgorosky A

Publikováno v: Hormone research in paediatrics [Horm Res Paediatr] 2012; Vol. 78 (2), pp. 119-26. Date of Electronic Publication: 2012 Aug 14.

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Akademický článek

Three new SF-1 (NR5A1) gene mutations in two unrelated families with multiple affected members: within-family variability in 46,XY subjects and low ovarian reserve in fertile 46,XX subjects.

Autor: Warman DM; Endocrinology Service, Hospital de Pediatria Garrahan, Buenos Aires, Argentina., Costanzo M, Marino R, Berensztein E, Galeano J, Ramirez PC, Saraco N, Baquedano MS, Ciaccio M, Guercio G, Chaler E, Maceiras M, Lazzatti JM, Bailez M, Rivarola MA, Belgorosky A

Publikováno v: Hormone research in paediatrics [Horm Res Paediatr] 2011; Vol. 75 (1), pp. 70-7. Date of Electronic Publication: 2010 Sep 22.

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