Rogelio
González Sarmiento
Catedrático de Universidad
Universidad de Buenos Aires
Buenos Aires, ArgentinaPublicaciones en colaboración con investigadores/as de Universidad de Buenos Aires (15)
2023
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The p.Pro2232Leu variant in the ChEL domain of thyroglobulin gene causes intracellular transport disorder and congenital hypothyroidism
Endocrine, Vol. 80, Núm. 1, pp. 47-53
2022
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Mutational screening of the TPO and DUOX2 genes in Argentinian children with congenital hypothyroidism due to thyroid dyshormonogenesis
Endocrine, Vol. 77, Núm. 1, pp. 86-101
2018
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Molecular analysis of thyroglobulin mutations found in patients with goiter and hypothyroidism
Molecular and Cellular Endocrinology, Vol. 473, pp. 1-16
2015
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Kinetic characterization of human thyroperoxidase. Normal and pathological enzyme expression in Baculovirus System: A molecular model of functional expression
Molecular and Cellular Endocrinology, Vol. 404, pp. 9-15
2012
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Congenital goitrous hypothyroidism: Mutation analysis in the thyroid peroxidase gene
Clinical Endocrinology, Vol. 76, Núm. 4, pp. 568-576
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Two novel mutations in the thyroglobulin gene as cause of congenital hypothyroidism: Identification a cryptic donor splice site in the exon 19
Molecular and Cellular Endocrinology, Vol. 348, Núm. 1, pp. 313-321
2011
2010
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Analysis of thyroglobulin gene polymorphisms in patients with autoimmune thyroiditis
Endocrine, Vol. 37, Núm. 3, pp. 389-395
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Molecular analysis of congenital goitres with hypothyroidism caused by defective thyroglobulin synthesis. Identification of a novel c.7006C>T [p.R2317X] mutation and expression of minigenes containing nonsense mutations in exon 7
Clinical Endocrinology, Vol. 72, Núm. 1, pp. 112-121
2009
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Genotyping of resistance to thyroid hormone in South American population. Identification of seven novel missense mutations in the human thyroid hormone receptor β gene
Molecular and Cellular Probes, Vol. 23, Núm. 3-4, pp. 148-153
2007
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Congenital hypothyroidism with goitre caused by new mutations in the thyroglobulin gene
Clinical Endocrinology, Vol. 67, Núm. 3, pp. 351-357
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Recurrence of the p.R277X/p.R1511X compound heterozygous mutation in the thyroglobulin gene in unrelated families with congenital goiter and hypothyroidism: Haplotype analysis using intragenic thyroglobulin polymorphisms
Journal of Endocrinology, Vol. 195, Núm. 1, pp. 167-177
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Two compound heterozygous mutations (c.215delA/c.2422T→C and c.387delC/c.1159G→A) in the thyroid peroxidase gene responsible for congenital goitre and iodide organification defect
Clinical Endocrinology, Vol. 67, Núm. 2, pp. 238-246
2005
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A new case of congenital goiter with hypothyroidism caused by a homozygous p.R277X mutation in the exon 7 of the thyroglobulin gene: A mutational hot spot could explain the recurrence of this mutation
Journal of Clinical Endocrinology and Metabolism, Vol. 90, Núm. 6, pp. 3766-3770
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Nonsense-associated alternative splicing of the human thyroglobulin gene
Molecular Diagnosis, Vol. 9, Núm. 3, pp. 143-149