Marino R - Search Results

1

Ehlers-Danlos Syndrome: Molecular and Clinical Characterization of TNXA/TNXB Chimeras in Congenital Adrenal Hyperplasia.

Marino R, Garrido NP, Ramirez P, Notaristéfano G, Moresco A, Touzon MS, Vaiani E, Finkielstain G, Obregón MG, Balbi V, Soria I, Belgorosky A. Marino R, et al. J Clin Endocrinol Metab. 2021 Jun 16;106(7):e2789-e2802. doi: 10.1210/clinem/dgab033. J Clin Endocrinol Metab. 2021. PMID: 33482002

2

[Molecular analysis of the most frequent mutations associated with congenital adrenal hyperplasia secondary to 21-hydroxylase enzyme deficiency].

Dardis A, Marino R, Bergadá I, Escobar ME, Gryngarten M, Rivarola MA, Belgorosky A. Dardis A, et al. Among authors: marino r. Medicina (B Aires). 2001;61(1):28-34. Medicina (B Aires). 2001. PMID: 11265620 Spanish.

3

Molecular analysis of the 21-hydroxylase gene.

Belgorosky A, Marino R, Rivarola M. Belgorosky A, et al. Among authors: marino r. Clin Endocrinol (Oxf). 2003 Feb;58(2):247. doi: 10.1046/j.1365-2265.2003.17092.x. Clin Endocrinol (Oxf). 2003. PMID: 12580943 No abstract available.

4

The serum growth hormone (GH) response to provocative tests is dependent on type of assay in autosomal dominant isolated GH deficiency because of an ARG(183)HIS (R183H) GH-I gene mutation.

Marino R, Chaler E, Warman M, Ciaccio M, Berensztein E, Rivarola MA, Belgorosky A. Marino R, et al. Clin Chem. 2003 Jun;49(6 Pt 1):1002-5. doi: 10.1373/49.6.1002. Clin Chem. 2003. PMID: 12766013 No abstract available.

5

Hypothalamic-pituitary-ovarian axis during infancy, early and late prepuberty in an aromatase-deficient girl who is a compound heterocygote for two new point mutations of the CYP19 gene.

Belgorosky A, Pepe C, Marino R, Guercio G, Saraco N, Vaiani E, Rivarola MA. Belgorosky A, et al. Among authors: marino r. J Clin Endocrinol Metab. 2003 Nov;88(11):5127-31. doi: 10.1210/jc.2003-030433. J Clin Endocrinol Metab. 2003. PMID: 14602738

6

Unexpected peripheral markers of thyroid function in a patient with a novel mutation of the MCT8 thyroid hormone transporter gene.

Herzovich V, Vaiani E, Marino R, Dratler G, Lazzati JM, Tilitzky S, Ramirez P, Iorcansky S, Rivarola MA, Belgorosky A. Herzovich V, et al. Among authors: marino r. Horm Res. 2007;67(1):1-6. doi: 10.1159/000095805. Epub 2006 Sep 15. Horm Res. 2007. PMID: 16974106

7

Characterization of immunodeficiency in a patient with growth hormone insensitivity secondary to a novel STAT5b gene mutation.

Bernasconi A, Marino R, Ribas A, Rossi J, Ciaccio M, Oleastro M, Ornani A, Paz R, Rivarola MA, Zelazko M, Belgorosky A. Bernasconi A, et al. Among authors: marino r. Pediatrics. 2006 Nov;118(5):e1584-92. doi: 10.1542/peds.2005-2882. Epub 2006 Oct 9. Pediatrics. 2006. PMID: 17030597

8

The cytochrome P450 aromatase lacking exon 5 is associated with a phenotype of nonclassic aromatase deficiency and is also present in normal human steroidogenic tissues.

Pepe CM, Saraco NI, Baquedano MS, Guercio G, Vaiani E, Marino R, Pandey AV, Flück CE, Rivarola MA, Belgorosky A. Pepe CM, et al. Among authors: marino r. Clin Endocrinol (Oxf). 2007 Nov;67(5):698-705. doi: 10.1111/j.1365-2265.2007.02948.x. Epub 2007 Jul 2. Clin Endocrinol (Oxf). 2007. PMID: 17608756

9

A new DAX-1 mutation in a family with a case of neonatal adrenal insufficiency and a sibling with adrenal hypoplasia and sudden death at 3 years of age.

Mericq V, Ciaccio M, Marino R, Lamoglia JJ, Viterbo G, Rivarola MA, Belgorosky A. Mericq V, et al. Among authors: marino r. J Pediatr Endocrinol Metab. 2007 Sep;20(9):1039-43. doi: 10.1515/jpem.2007.20.9.1039. J Pediatr Endocrinol Metab. 2007. PMID: 18038713

10

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.

Warman DM, 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. Warman DM, et al. Among authors: marino r. Horm Res Paediatr. 2011;75(1):70-7. doi: 10.1159/000320029. Epub 2010 Sep 22. Horm Res Paediatr. 2011. PMID: 20861607

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