Search Results - "Frechtel, G D"

Glucokinase gene mutation screening in Argentinean clinically characterized MODY patients by Lopez, A P, Foscaldi, S A, Pérez, M S, Krochik, G, Rodríguez, M, Traversa, M, Puchulu, F M, Hirschler, V, Bergada, I, Frechtel, G D

“…Mutations in the glucokinase gene (GCK) produce a subtype of Maturity onset diabetes in the young (MODY), named MODY 2. To date over than 190 different…”
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Human thyroid tissue do not express thyroalbumin by TARGOVNIK, H. M, FRECHTEL, G. D, VARELA, V, WAJCHENBERG, B. L, VASSART, G, DUMONT, J, MEDEIROS, G. A

“…Thyroid tissue total RNAs from multinodular goiter (G2) and from hereditary goiter with defective Tg synthesis (JNA) were hybridized with a 5'albumin cDNA…”
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Molecular genetics of hereditary thyroid diseases due to a defect in the thyroglobulin or thyroperoxidase synthesis by Targovnik, H M, Varela, V, Frechtel, G D, Cerrone, G E, Copelli, S B, Propato, F V, Mendive, F

“…1. Hereditary goiter and the various degrees of thyroid hypofunction are the result of structural changes in the thyroglobulin (Tg) or thyroperoxidase (TPO)…”
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Cytotoxic T lymphocyte antigen 4 heterozygous codon 49 A/G dimorphism is associated to latent autoimmune diabetes in adults (LADA) by Caputo, Mariela, Cerrone, Gloria Edith, López, Ariel Pablo, Villalba, Anabel, Krochik, Gabriela Andrea, Cédola, Federico Norberto, Targovnik, Héctor Manuel, Frechtel, Gustavo Daniel

“…Autoimmune diabetes is an organ specific and multifactorial disorder with a classical onset as insulin dependent diabetes mellitus (IDDM) and with another form…”
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Evidence for the segregation of three different mutated alleles of the thyroglobulin gene in a Brazilian family with congenital goiter and hypothyroidism by Targovnik, H M, Frechtel, G D, Mendive, F M, Vono, J, Cochaux, P, Vassart, G, Medeiros-Neto, G

“…We have previously reported a Brazilian family with congenital goiter, hypothyroidism, and marked impairment of thyroglobulin (Tg) synthesis. Analysis of the…”
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Detection and characterization of ZnT8 autoantibodies could help to screen latent autoimmune diabetes in adult-onset patients with type 2 phenotype by Trabucchi, Aldana, Faccinetti, Natalia I., Guerra, Luciano L., Puchulu, Félix M., Frechtel, Gustavo D., Poskus, Edgardo, Valdez, Silvina N.

“…Autoantibodies to zinc transporter 8 (ZnT8A) constitute an additional marker of autoimmune diabetes, complementing those already used in diagnosis support…”
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HLA DQB1 genotyping in latent autoimmune diabetes of adults (LADA) by Caputo, Mariela, Cerrone, Gloria E, Lopez, Ariel P, Gonzalez, Claudio, Mazza, Carmen, Cedola, Norberto, Puchulu, Felix M, Targovnik, Hector M, Frechtel, Gustavo D

“…Autoimmune diabetes is a complex, multifactorial disease caused by the interaction of genetic and environmental factors. This autoimmune diabetes is commonly…”
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