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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Abnormalities in sperm acid glycosidases from infertile men with idiopathic oligoasthenoteratozoospermia
Corrales, Juan J, Burgo, Rosa M, Miralles, José M, Villar, Enrique
Published in Fertility and sterility (01.03.2000)
Published in Fertility and sterility (01.03.2000)
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Conference Proceeding
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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Endocarditis infecciosa sobre válvulas protésicas causada por Staphylococcus capitis: un nuevo caso
Domínguez Rodríguez, Alberto, García González, Martín J., Lara Padrón, Antonio, Laynez Cerdeña, Ignacio, Barragán Acea, Antonio, Miralles Ibarra, José M., Lacalzada Almeida, Juan, Bosa Ojeda, Francisco, Marrero Rodríguez, Francisco, de Armas Trujillo, Diego
Published in Revista española de cardiologia (1999)
Published in Revista española de cardiologia (1999)
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Prospective study of the enzymatic activities in urine of n-acetyl-β- d-glucosaminidase, α- d-mannosidase, α- and β- d-glucosidases, α- l- and β- d-fucosidases, and β- d-galactosidase in type I diabetes mellitus with early nephropathy
Miralles, Jose M., Velasco, Javier, Villabona, Vicente, Sanchez-Bernal, Carmen, Perez, Nieves, Corrales, Juan J., Garcia-Diez, Luís C., Villar, Enrique
Published in Journal of diabetes and its complications (01.07.1993)
Published in Journal of diabetes and its complications (01.07.1993)
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