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Refinado por: assunto: Mutação Genética remover
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1
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)

2
Thyroperoxidase gene mutations in congenital goitrous hypothyroidism with total and partial iodide organification defect
Thyroperoxidase gene mutations in congenital goitrous hypothyroidism with total and partial iodide organification defect
Material Type:
Artigo 		Adicionar ao Meu Espaço

Thyroperoxidase gene mutations in congenital goitrous hypothyroidism with total and partial iodide organification defect

Antonio C. Nascimento Dulce R Guedes; Cecilia S Santos; Meyer Knobel; Ileana G. S Rubio; Geraldo Medeiros Neto

Thyroid New York v. 13, n. 9, p. 1145-1151, 2003

New York 2003

Localização: FM - Fac. Medicina    (BCSEP 2003 257 )(Acessar)

3
The p.A2215D Thyroglobulin Gene Mutation Leads to Deficient Synthesis and Secretion of the Mutated Protein and Congenital Hypothyroidism with Wide Phenotype Variation
The p.A2215D Thyroglobulin Gene Mutation Leads to Deficient Synthesis and Secretion of the Mutated Protein and Congenital Hypothyroidism with Wide Phenotype Variation
Material Type:
Artigo 		Adicionar ao Meu Espaço

The p.A2215D Thyroglobulin Gene Mutation Leads to Deficient Synthesis and Secretion of the Mutated Protein and Congenital Hypothyroidism with Wide Phenotype Variation

Viviane Pardo Jussara Vono-Toniolo; Ileana G. S Rubio; Meyer Knobel; Roberta F Possato; Hector M Targovnik; Peter Kopp; Geraldo Medeiros-Neto

Journal of Clinical Endocrinology & Metabolism Philadelphia v. 94, n. 8, p. 2938-2944, 2009

Philadelphia 2009

Acesso online. A biblioteca também possui exemplares impressos.

4
Thyroperoxidase gene mutations in congenital goitrous hypothyroidism with total and partial iodide organification defect
Thyroperoxidase gene mutations in congenital goitrous hypothyroidism with total and partial iodide organification defect
Material Type:
Artigo 		Adicionar ao Meu Espaço

Thyroperoxidase gene mutations in congenital goitrous hypothyroidism with total and partial iodide organification defect

Antonio C. Nascimento Dulce R Guedes; Cecilia S Santos; Meyer Knobel; Ileana G. S Rubio; Geraldo Medeiros Neto

Thyroid New York v. 13, n. 9, p. 1145-1151, 2003

New York 2003

Localização: FM - Fac. Medicina    (BCSEP 2003 257 )(Acessar)

5
The p.A2215D Thyroglobulin Gene Mutation Leads to Deficient Synthesis and Secretion of the Mutated Protein and Congenital Hypothyroidism with Wide Phenotype Variation
The p.A2215D Thyroglobulin Gene Mutation Leads to Deficient Synthesis and Secretion of the Mutated Protein and Congenital Hypothyroidism with Wide Phenotype Variation
Material Type:
Artigo 		Adicionar ao Meu Espaço

The p.A2215D Thyroglobulin Gene Mutation Leads to Deficient Synthesis and Secretion of the Mutated Protein and Congenital Hypothyroidism with Wide Phenotype Variation

Viviane Pardo Jussara Vono-Toniolo; Ileana G. S Rubio; Meyer Knobel; Roberta F Possato; Hector M Targovnik; Peter Kopp; Geraldo Medeiros-Neto

Journal of Clinical Endocrinology & Metabolism Philadelphia v. 94, n. 8, p. 2938-2944, 2009

Philadelphia 2009

Acesso online. A biblioteca também possui exemplares impressos.

6
A molecular analysis and long-term follow-up of two siblings with severe congenital hypothyroidism carrying the IVS30+1G>T intronic thyroglobulin mutation
A molecular analysis and long-term follow-up of two siblings with severe congenital hypothyroidism carrying the IVS30+1G>T intronic thyroglobulin mutation
Material Type:
Artigo 		Adicionar ao Meu Espaço

A molecular analysis and long-term follow-up of two siblings with severe congenital hypothyroidism carrying the IVS30+1G>T intronic thyroglobulin mutation

Ileana G. S. Rubio Ana Luiza Galrao; Viviane Pardo; Meyer Knobel; Roberta F Possato; Rosalinda R. Y Camargo; Marcelo A Ferreira; Cristina T Kanamura; Simone A Gomes; Geraldo Medeiros-Neto

Arquivos Brasileiros de Endocrinologia e Metabologia São Paulo v. 52, n. 8, p. 1337-1344, 2008

São Paulo 2008

Localização: FM - Fac. Medicina    (BCSEP 126 2008 )(Acessar)

7
A busca de fatores etiologicos para disgenesias tireoideas Rastreamento de mutações somáticas no gene foxe 1
A busca de fatores etiologicos para disgenesias tireoideas Rastreamento de mutações somáticas no gene foxe 1
Material Type:
Artigo de Congresso 		Adicionar ao Meu Espaço

A busca de fatores etiologicos para disgenesias tireoideas Rastreamento de mutações somáticas no gene foxe 1

P. R. Mezalira D Perone; C. R Nogueira; M. C Costa; M Knobel; G Medeiros Neto; I. G. S Rubio; Encontro Brasileiro de Tiroide 2008 (13. Campinas)

Arquivos Brasileiros de Endocrinologia e Metabologia São Paulo v. 52, supl. 3, p. S297, res. PT-015, 2008

São Paulo 2008

Localização: FM - Fac. Medicina    (BCSEP 382 2008 )(Acessar)

8
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)

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Deste Autor:

  1. Rubio, I
  2. Knobel, M
  3. Medeiros-Neto, G
  4. Possato, R
  5. Pardo, V

Neste Assunto:

  1. Hipotireoidismo (Congênito)
  2. Hipotireoidismo (Genética)
  3. Glicoproteínas
  4. Crianças
  5. Genótipos

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

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