Marino R - Search Results

1

An Intron 9 CYP19 Gene Variant (IVS9+5G>A), Present in an Aromatase-Deficient Girl, Affects Normal Splicing and Is Also Present in Normal Human Steroidogenic Tissues.

Saraco N, Nesi-Franca S, Sainz R, Marino R, Marques-Pereira R, La Pastina J, Perez Garrido N, Sandrini R, Rivarola MA, de Lacerda L, Belgorosky A. Saraco N, et al. Among authors: marino r. Horm Res Paediatr. 2015;84(4):275-82. doi: 10.1159/000437142. Epub 2015 Aug 5. Horm Res Paediatr. 2015. PMID: 26279340

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

Dose dependency of the serum bio/immuno GH ratio in children during pharmacological secretion tests.

Chaler EA, Travaglino P, Pagani S, Bozzola E, Marino R, Berensztein E, Maceiras M, Tauber M, Rivarola MA, Belgorosky A, Bozzola M. Chaler EA, et al. Among authors: marino r. J Endocrinol Invest. 2006 Feb;29(2):109-14. doi: 10.1007/BF03344082. J Endocrinol Invest. 2006. PMID: 16610235

7

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

8

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

9

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

10

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

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