A new compound heterozygous for c.886C>T/c.2206C>T [p.R277X/p.Q717X] mutations in the thyroglobulin gene as a cause of foetal goitrous hypothyroidism
Citterio, Cintia E., Coutant, Regis, Rouleau, Stephanie, Miralles García, José M., Gonzalez-Sarmiento, Rogelio, Rivolta, Carina M., Targovnik, Héctor M.
Published in Clinical endocrinology (Oxford) (01.04.2011)
Published in Clinical endocrinology (Oxford) (01.04.2011)
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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
Rivolta, Carina M, Moya, Christian M, Gutnisky, Viviana J, Varela, Viviana, Miralles-García, José M, González-Sarmiento, Rogelio, Targovnik, Héctor M
Published in The journal of clinical endocrinology and metabolism (01.06.2005)
Published in The journal of clinical endocrinology and metabolism (01.06.2005)
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Analysis of thyroglobulin gene polymorphisms in patients with autoimmune thyroiditis
Caputo, Mariela, Rivolta, Carina M., Mories, Teresa, Corrales, Juan J., Galindo, Purificación, González-Sarmiento, Rogelio, Targovnik, Héctor M., Miralles-García, José M.
Published in Endocrine (01.06.2010)
Published in Endocrine (01.06.2010)
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Prevalence of distal diabetic polyneuropathy using quantitative sensory methods in a population with diabetes of more than 10 years' disease duration
Miralles-García, José M, de Pablos-Velasco, Pedro, Cabrerizo, Lucio, Pérez, María, López-Gómez, Vanessa
Published in Endocrinologia y nutricion (01.11.2010)
Published in Endocrinologia y nutricion (01.11.2010)
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Journal Article
A new compound heterozygous for c.886C>T/c.2206C>T [p.R277X/p.Q717X] mutations in the thyroglobulin gene as a cause of foetal goitrous hypothyroidism: Letters to the Editor
Citterio, Cintia E., Coutant, Regis, Rouleau, Stephanie, Miralles García, José M., Gonzalez-Sarmiento, Rogelio, Rivolta, Carina M., Targovnik, Héctor M.
Published in Clinical endocrinology (Oxford) (01.04.2011)
Published in Clinical endocrinology (Oxford) (01.04.2011)
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Journal Article
Thyroglobulin exon 10 gene point mutation in a patient with endemic goiter
Pérez-Centeno, C, González-Sarmiento, R, Mories, M T, Corrales, J J, Miralles-García, J M
Published in Thyroid (New York, N.Y.) (01.10.1996)
Published in Thyroid (New York, N.Y.) (01.10.1996)
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Journal Article
Analysis of thyroglobulin gene polymorphisms in patients with autoimmune thyroiditis
Caputo, Mariela, Rivolta, Carina M, Mories, Teresa, Corrales, Juan J, Galindo, Purificación, González-Sarmiento, Rogelio, Targovnik, Héctor M, Miralles-García, José M
Published in Endocrine (2010)
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Published in Endocrine (2010)
Journal Article
Cardiovascular risk factor control in a population with longstanding diabetes attending endocrinology departments
Comi-Diaz, Cristina, Miralles-García, José M, Cabrerizo, Lucio, Pérez, María, Masramon, Xavier, De Pablos-Velasco, Pedro
Published in Endocrinologia y nutricion (01.12.2010)
Published in Endocrinologia y nutricion (01.12.2010)
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Journal Article
A new compound heterozygous for c.886C>T/c.2206C>T [p.R277X/p.Q717X] mutations in the thyroglobulin gene as a cause of foetal goitrous hypothyroidism
Citterio, Cintia E, Coutant, Regis, Rouleau, Stephanie, Miralles García, José M, Gonzalez-Sarmiento, Rogelio, Rivolta, Carina M, Targovnik, Héctor M
Published in Clinical endocrinology (01.04.2011)
Published in Clinical endocrinology (01.04.2011)
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