Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Viviana J. Gutnisky"'
Autor:
Ana Chiesa, Viviana J. Gutnisky, Carina M. Rivolta, Laura Gruñeiro-Papendieck, Héctor M. Targovnik, Mariela Caputo, Geraldo Medeiros-Neto, Rogelio González-Sarmiento
Publikováno v:
Journal of Endocrinology. 195:167-177
Thyroglobulin (TG) functions as the matrix for thyroid hormone synthesis. Thirty-five different loss-of-function mutations in the TG gene have been reported. These mutations are transmitted in an autosomal recessive mode. The objective of this study
Autor:
Carina M. Rivolta, Christian M. Moya, Sebastián A. Esperante, Viviana J. Gutnisky, Viviana Varela, Héctor M. Targovnik
Publikováno v:
Medicina (Buenos Aires), Vol 65, Iss 3, Pp 257-267 (2005)
Las enfermedades tiroideas constituyen una heterogénea colección de anormalidades asociadas a mutaciones en los genes responsables en el desarrollo de la tiroides: factor de transcripción tiroideo 1 (TTF-1), factor de transcripción tiroideo 2 (TT
Autor:
Carina M, Rivolta, Christian M, Moya, Sebastian A, Esperante, Viviana J, Gutnisky, Viviana, Varela, Hector M, Targovnik
Publikováno v:
Medicina. 65(3)
Thyroid diseases constitute a heterogeneous collection of abnormalities associated with mutations in genes responsible for the development of thyroid: thyroid transcription factor-1 (TTF-1), thyroid transcriptions factor-2 (TTF-2) and PAX8, or in one
Autor:
Héctor M. Targovnik, Viviana Varela, Viviana J. Gutnisky, Carina M. Rivolta, Rogelio González-Sarmiento, José M. Miralles-García, Christian M. Moya
Publikováno v:
The Journal of clinical endocrinology and metabolism. 90(6)
Identification of thyroglobulin (TG) gene mutations may provide insight into the structure-function relationship. In this study, we have performed molecular studies in a patient with congenital goiter, hypothyroidism, and impairment of TG synthesis.
Autor:
Héctor M. Targovnik, Carina M. Rivolta, Viviana Varela, Viviana J. Gutnisky, Geraldo Medeiros-Neto, Sabina Domené, Christian M. Moya, Jussara V. Toniolo
In this study, we have extended our initial molecular studies of a nonconsanguineous family with two affected siblings and one of their nephews with congenital goiter, hypothyroidism, and marked impairment of thyroglobulin synthesis. Genomic DNA sequ
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6d051bc7e1bf9f072f2a8cb3619f21b8
https://academic.oup.com/jcem/article/89/2/646/2840770
https://academic.oup.com/jcem/article/89/2/646/2840770
Autor:
Christian M. Moya, Philippe Caron, Viviana J. Gutnisky, Carina M. Rivolta, Bernard Chabardes, Héctor M. Targovnik, D Malet
Publikováno v:
The Journal of clinical endocrinology and metabolism. 88(8)
In a 22-yr-old healthy woman, a fetal goiter was diagnosed coincidentally by ultrasound during the sixth month of gestation, and hypothyroidism was affirmed by a high TSH (336 mU/liter) concentration after cordocentesis. A second ultrasound examinati