Molecular diagnosis of congenital hypothyroidism with total or partial iodide organification defect, screening for TPO mutations
S. C. Neves I. G. S Rubio; Meyer Knobel; M. S Monteiro; V. L Pardo; A. L Galrão; V Dias; M Viana; A. J Chagas; GERALDO Medeiros-Neto; International Thyroid Congress (13. 2005 Buenos Aires, AR)
Thyroid New York v. 15, suppl. 1, p. S-228, res. P 524, 2005
New York American Thyroid Association 2005
Localização:
FM - Fac. Medicina
(BCSEP 257 2005 )(Acessar)
Monoallelic thyroid peroxidase gene mutation in a patient with congenital hypothyroidism with total iodide organification defect
Solange Caires Neves Paola Rossi Mezalira; Vera M. A Dias; Antonio J Chagas; Maria Viana; Hector Targovnik; Meyer Knobel; Geraldo Medeiros-Neto; Ileana G. S Rubio
Arquivos Brasileiros de Endocrinologia e Metabologia São Paulo v. 54, n. 8, p. 732-737, 2010
São Paulo 2010
Localização:
FM - Fac. Medicina
(BCSEP 343 2010 )(Acessar)
Five new cases of congenital goitrous hypothyroidism due to a P.R277X mutation in the thyroglobulin gene this mutation is the result of a mutational hot
Viviane Pardo Ilena G. S Rubio; Meyer Knobel; M. S Monteiro; Carina Rivolta; Jussara Toniolo; Héctor Targovnik; Christian Moya; Vera Dias; Maria Viana; Antonio Chagas; GERALDO Medeiros-Neto; International Thyroid Congress (13. 2005 Buenos Aires, AR)
Thyroid New York v. 15, suppl. 1, p. S-230, res. P 531, 2005
New York American Thyroid Association 2005
Localização:
FM - Fac. Medicina
(BCSEP 257 2005 )(Acessar)