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Refinado por: assunto: Mutação Genética remover assunto: Hipotireoidismo remover
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1
Mutant thyroglobulin is retained in the endoplasmatic reticulum (ER) due to abnormal folding as a consequence of a novel mutation (A2215D) in the ache region of the TG gene
Mutant thyroglobulin is retained in the endoplasmatic reticulum (ER) due to abnormal folding as a consequence of a novel mutation (A2215D) in the ache region of the TG gene
Material Type:
Artigo de Congresso 		Adicionar ao Meu Espaço

Mutant thyroglobulin is retained in the endoplasmatic reticulum (ER) due to abnormal folding as a consequence of a novel mutation (A2215D) in the ache region of the TG gene

V. Pardo Toniolo J Vono; I. G. S Rubio; M Knobel; P Kopp; G Medeiros-Neto; Congress Thyroid Society 2007) Santiago (12.

Abstracts Santiago p. 3, Res. P116, 2007

Santiago 2007

Localização: FM - Fac. Medicina    (BCSEP 422 2007 )(Acessar)

2
The cases for somatic mutations in TTF2 gene in patients with ectopic thyroid glands
The cases for somatic mutations in TTF2 gene in patients with ectopic thyroid glands
Material Type:
Artigo de Congresso 		Adicionar ao Meu Espaço

The cases for somatic mutations in TTF2 gene in patients with ectopic thyroid glands

P. R. Mezalira D Perne; C. R Nogueira; M Knobel; G Medeiros-Neto; I. G. S Rubio; Congress Thyroid Society 2007) Santiago (12.

Abstracts Santiago p. 1, Res. P83, 2007

Santiago 2007

Localização: FM - Fac. Medicina    (BCSEP 422 2007 )(Acessar)

3
Analysis of the PAX8 gene in 32 children with thyroid dysgenesis and functional characterization of a promoter variant
Analysis of the PAX8 gene in 32 children with thyroid dysgenesis and functional characterization of a promoter variant
Material Type:
Artigo 		Adicionar ao Meu Espaço

Analysis of the PAX8 gene in 32 children with thyroid dysgenesis and functional characterization of a promoter variant

Denise Perone Geraldo Medeiros-Neto; Célia Regina Nogueira; Antonio José Chagas; Vera Maria Alves Dias; Maria Fátima Viana; Peter Kopp

Journal of pediatric endocrinology & metabolism London v. 29, n. 2, p. 193-201, 2016

London 2016

Localização: FM - Fac. Medicina    (BCSEP 122 2016 )(Acessar)

4
Large fetal goiter in a patient with congenital hypothyroidism is associated with intron donor site mutation (G.IVS30+1G>T) of the thyroglobulin gene
Large fetal goiter in a patient with congenital hypothyroidism is associated with intron donor site mutation (G.IVS30+1G>T) of the thyroglobulin gene
Material Type:
Artigo de Congresso 		Adicionar ao Meu Espaço

Large fetal goiter in a patient with congenital hypothyroidism is associated with intron donor site mutation (G.IVS30+1G>T) of the thyroglobulin gene

R. Possato I. G. S Rubio; M Knobel; M. H Oliveira; M Moura; C Rivolta; H. M Targovnik; G Medeiros-Neto; Annual Meeting on the American Thyroid Association (77. 2006 Phoenix)

Thyroid New York v. 16, n. 9, p. 906, res. 147, 2006

New York 2006

Localização: FM - Fac. Medicina    (BCSEP 352 2006 )(Acessar)

5
Monoallelic thyroid peroxidase gene mutation in a patient with congenital hypothyroidism with total iodide organification defect
Monoallelic thyroid peroxidase gene mutation in a patient with congenital hypothyroidism with total iodide organification defect
Material Type:
Artigo 		Adicionar ao Meu Espaço

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)

6
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
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
Material Type:
Artigo de Congresso 		Adicionar ao Meu Espaço

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)

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Deste Autor:

  1. Medeiros-Neto, G
  2. Rubio, I
  3. Knobel, M
  4. Chagas, A
  5. Dias, V

Neste Assunto:

  1. Hipotireoidismo
  2. Mutação Genética
  3. Resumos (Eventos)
  4. Glândula Tireoide
  5. Retículo Endoplasmático

  • Realização: ABCD-USP USP   Logos de Redes Sociais: Freepik

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