Esperante SA - Search Results

1

Five novel inactivating mutations in the thyroid peroxidase gene responsible for congenital goiter and iodide organification defect.

Rivolta CM, Esperante SA, Gruñeiro-Papendieck L, Chiesa A, Moya CM, Domené S, Varela V, Targovnik HM. Rivolta CM, et al. Among authors: esperante sa. Hum Mutat. 2003 Sep;22(3):259. doi: 10.1002/humu.9175. Hum Mutat. 2003. PMID: 12938097

2

[The thyroid as a model for molecular mechanisms in genetic diseases].

Rivolta CM, Moya CM, Esperante SA, Gutnisky VJ, Varela V, Targovnik HM. Rivolta CM, et al. Among authors: esperante sa. Medicina (B Aires). 2005;65(3):257-67. Medicina (B Aires). 2005. PMID: 16042141 Review. Spanish.

3

Three mutations (p.Q36H, p.G418fsX482, and g.IVS19-2A>C) in the dual oxidase 2 gene responsible for congenital goiter and iodide organification defect.

Varela V, Rivolta CM, Esperante SA, Gruñeiro-Papendieck L, Chiesa A, Targovnik HM. Varela V, et al. Among authors: esperante sa. Clin Chem. 2006 Feb;52(2):182-91. doi: 10.1373/clinchem.2005.058321. Epub 2005 Dec 1. Clin Chem. 2006. PMID: 16322276

4

Congenital hypothyroidism with goitre caused by new mutations in the thyroglobulin gene.

Caputo M, Rivolta CM, Esperante SA, Gruñeiro-Papendieck L, Chiesa A, Pellizas CG, González-Sarmiento R, Targovnik HM. Caputo M, et al. Among authors: esperante sa. Clin Endocrinol (Oxf). 2007 Sep;67(3):351-7. doi: 10.1111/j.1365-2265.2007.02889.x. Epub 2007 May 28. Clin Endocrinol (Oxf). 2007. PMID: 17532758

5

Identification and characterization of four PAX8 rare sequence variants (p.T225M, p.L233L, p.G336S and p.A439A) in patients with congenital hypothyroidism and dysgenetic thyroid glands.

Esperante SA, Rivolta CM, Miravalle L, Herzovich V, Iorcansky S, Baralle M, Targovnik HM. Esperante SA, et al. Clin Endocrinol (Oxf). 2008 May;68(5):828-35. doi: 10.1111/j.1365-2265.2007.03111.x. Epub 2007 Nov 2. Clin Endocrinol (Oxf). 2008. PMID: 17980011

6

Identification and characterization of new variants of three associated SNPs and a microsatellite in the TSH receptor gene which are useful for genetic studies.

Esperante SA, Rivolta CM, Caputo M, González-Sarmiento R, Targovnik HM. Esperante SA, et al. Mol Cell Probes. 2008 Oct-Dec;22(5-6):281-6. doi: 10.1016/j.mcp.2008.06.003. Epub 2008 Jul 4. Mol Cell Probes. 2008. PMID: 18652889

7

Genetics and phenomics of hypothyroidism and goiter due to thyroglobulin mutations.

Targovnik HM, Esperante SA, Rivolta CM. Targovnik HM, et al. Among authors: esperante sa. Mol Cell Endocrinol. 2010 Jun 30;322(1-2):44-55. doi: 10.1016/j.mce.2010.01.009. Epub 2010 Jan 20. Mol Cell Endocrinol. 2010. PMID: 20093166 Review.

8

Detection of mutations in argentine retinoblastoma patients by segregation of polymorphisms, exon analysis and cytogenetic test.

Dalamon V, Surace E, Borelina D, Ziembar M, Esperante S, Francipane L, Davila M, Parma D, Szijan I. Dalamon V, et al. Ophthalmic Res. 2001 Nov-Dec;33(6):336-9. doi: 10.1159/000055690. Ophthalmic Res. 2001. PMID: 11721186

9

Supernumerary marker 15 chromosome in a patient with Prader-Willi syndrome.

Borelina D, Esperante S, Gutnisky V, Ferreiro V, Ferrer M, Giliberto F, Frechtel G, Francipane L, Szijan I. Borelina D, et al. Clin Genet. 2004 Mar;65(3):242-3. doi: 10.1111/j.0009-9163.2004.00203.x. Clin Genet. 2004. PMID: 14756675 No abstract available.

10

Combined cytogenetic and molecular analyses for the diagnosis of Prader-Willi/Angelman syndromes.

Borelina D, Engel N, Esperante S, Ferreiro V, Ferrer M, Torrado M, Goldschmidt E, Francipane L, Szijan I. Borelina D, et al. J Biochem Mol Biol. 2004 Sep 30;37(5):522-6. doi: 10.5483/bmbrep.2004.37.5.522. J Biochem Mol Biol. 2004. PMID: 15479613

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