Gabriela Sobrero

Gabriela Sobrero

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Gabriela Sobrero

Gabriela Sobrero

Publications by authors named "Gabriela Sobrero"

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Molecular analysis of thyroglobulin mutations found in patients with goiter and hypothyroidism.

Mol Cell Endocrinol 2018 09 22;473:1-16. Epub 2017 Dec 22.

Universidad de Buenos Aires, Facultad de Farmacia y Bioquímica, Departamento de Microbiología, Inmunología, Biotecnología y Genética/Cátedra de Genética, Buenos Aires, Argentina; CONICET-Universidad de Buenos Aires, Instituto de Inmunología, Genética y Metabolismo (INIGEM), Buenos Aires, Argentina. Electronic address:

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http://dx.doi.org/10.1016/j.mce.2017.12.009DOI Listing
September 2018

Compound heterozygous DUOX2 gene mutations (c.2335-1G>C/c.3264_3267delCAGC) associated with congenital hypothyroidism. Characterization of complex cryptic splice sites by minigene analysis.

Mol Cell Endocrinol 2016 Jan 24;419:172-84. Epub 2015 Oct 24.

Laboratorio de Genética Molecular Tiroidea, Instituto de Inmunología, Genética y Metabolismo (INIGEM, CONICET-UBA), Hospital de Clínicas "José de San Martín", C1120AAR Buenos Aires, Argentina; Cátedra de Genética (FFyB-UBA), C1113AAD Buenos Aires, Argentina. Electronic address:

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http://dx.doi.org/10.1016/j.mce.2015.10.014DOI Listing
January 2016

Association of vitamin D receptor gene Cdx2 polymorphism with bone markers in Turner syndrome patients.

J Pediatr Endocrinol Metab 2012 ;25(7-8):669-71

Laboratorio 'Dr. Cañas', Cátedra de Bioquímica y Biología Molecular, Facultad de Ciencias Médicas, Universidad Nacional de Córdoba, Córdoba, Argentina.

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https://www.degruyter.com/view/j/jpem.2012.25.issue-7-8/jpem
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http://dx.doi.org/10.1515/jpem-2012-0098DOI Listing
January 2013

New insights into thyroglobulin gene: molecular analysis of seven novel mutations associated with goiter and hypothyroidism.

Mol Cell Endocrinol 2013 Jan 16;365(2):277-91. Epub 2012 Nov 16.

Laboratorio de Genética y Biología Molecular, Instituto de Inmunología, Genética y Metabolismo, Hospital de Clínicas José de San Martín, C1120AAR Buenos Aires, Argentina.

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http://dx.doi.org/10.1016/j.mce.2012.11.002DOI Listing
January 2013

Congenital goitrous hypothyroidism: mutation analysis in the thyroid peroxidase gene.

Clin Endocrinol (Oxf) 2012 Apr;76(4):568-76

Laboratorio de Biología Molecular, Cátedra de Genética y Biología Molecular, Facultad de Farmacia y Bioquímica, Universidad de Buenos Aires, Buenos Aires, Argentina.

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http://dx.doi.org/10.1111/j.1365-2265.2011.04249.xDOI Listing
April 2012

Vitamin D receptor genotypes are associated with bone mass in patients with Turner syndrome.

J Pediatr Endocrinol Metab 2011 ;24(5-6):307-12

Laboratorio "Dr. Cañas", Cátedra de Bioquímica y Biología Molecular, Facultad de Ciencias Médicas, Universidad Nacional de Córdoba, Córdoba, Argentina.

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http://dx.doi.org/10.1515/jpem.2011.047DOI Listing
August 2011

Iodide transport defect: functional characterization of a novel mutation in the Na+/I- symporter 5'-untranslated region in a patient with congenital hypothyroidism.

J Clin Endocrinol Metab 2011 Jul 11;96(7):E1100-7. Epub 2011 May 11.

Centro de Investigaciones en Bioquímica Clínica e Inmunología-Consejo Nacional de Investigaciones Científicas y Técnicas, Departamento de Bioquímica Clínica, Facultad de Ciencias Químicas, Universidad Nacional de Córdoba, Haya de la Torre y Medina Allende, 5000 Córdoba, Argentina.

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http://dx.doi.org/10.1210/jc.2011-0349DOI Listing
July 2011

Thyroglobulin reference values in a pediatric infant population.

Thyroid 2007 Nov;17(11):1049-54

Servicio de Endocrinología, Hospital de Niños de la Santísima Trinidad, Córdoba, Argentina.

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https://www.liebertpub.com/doi/10.1089/thy.2007.0059
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http://dx.doi.org/10.1089/thy.2007.0059DOI Listing
November 2007