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980 results

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Page 1
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: marino r. J Clin Endocrinol Metab. 2024 Nov 18;109(12):3196-3210. doi: 10.1210/clinem/dgae320. J Clin Endocrinol Metab. 2024. PMID: 38717911
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: marino r. 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.
Steroid 21-hydroxylase gene mutational spectrum in 454 Argentinean patients: genotype-phenotype correlation in a large cohort of patients with congenital adrenal hyperplasia.
Marino R, Ramirez P, Galeano J, Perez Garrido N, Rocco C, Ciaccio M, Warman DM, Guercio G, Chaler E, Maceiras M, Bergadá I, Gryngarten M, Balbi V, Pardes E, Rivarola MA, Belgorosky A. Marino R, et al. Clin Endocrinol (Oxf). 2011 Oct;75(4):427-35. doi: 10.1111/j.1365-2265.2011.04123.x. Clin Endocrinol (Oxf). 2011. PMID: 21609351
A novel missense mutation in the HSD3B2 gene, underlying nonsalt-wasting congenital adrenal hyperplasia. new insight into the structure-function relationships of 3β-hydroxysteroid dehidrogenase type II.
Baquedano MS, Ciaccio M, Marino R, Perez Garrido N, Ramirez P, Maceiras M, Turjanski A, Defelipe LA, Rivarola MA, Belgorosky A. Baquedano MS, et al. Among authors: marino r. J Clin Endocrinol Metab. 2015 Jan;100(1):E191-6. doi: 10.1210/jc.2014-2676. J Clin Endocrinol Metab. 2015. PMID: 25322271
Congenital Adrenal Hyperplasia and Ehlers-Danlos Syndrome.
Marino R, Moresco A, Perez Garrido N, Ramirez P, Belgorosky A. Marino R, et al. Front Endocrinol (Lausanne). 2022 Feb 25;13:803226. doi: 10.3389/fendo.2022.803226. eCollection 2022. Front Endocrinol (Lausanne). 2022. PMID: 35282436 Free PMC article. Review.
Presence of GH1 and absence of GHRHR gene mutations in a large cohort of Argentinian patients with severe short stature and isolated GH deficiency.
Juanes M, Marino R, Ciaccio M, Di Palma I, Ramirez P, Warman DM, De Dona V, Chaler E, Maceiras M, Rivarola MA, Belgorosky A. Juanes M, et al. Among authors: marino r. Clin Endocrinol (Oxf). 2014 Apr;80(4):618-20. doi: 10.1111/cen.12267. Epub 2013 Jul 11. Clin Endocrinol (Oxf). 2014. PMID: 23789946 No abstract available.
980 results