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1
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)

2
Molecular analysis of duox-2 gene in patients with partial (PIOD) or total iodide organification defect (TIOD)
Molecular analysis of duox-2 gene in patients with partial (PIOD) or total iodide organification defect (TIOD)
Material Type:
Artigo de Congresso 		Adicionar ao Meu Espaço

Molecular analysis of duox-2 gene in patients with partial (PIOD) or total iodide organification defect (TIOD)

Ana L. Galrão Viviane Pardo; Ileana G. S Rubio; Meyer Knobel; Solange Neves; Maria Monteiro; Carlos Chagas; Vera Dias; GERALDO Medeiros-Neto; International Thyroid Congress (13. 2005 Buenos Aires, AR)

Thyroid New York v. 15, suppl. 1, p. S-128-129, res. P 231, 2005

New York American Thyroid Association 2005

Localização: FM - Fac. Medicina    (BCSEP 257 2005 )(Acessar)

3
Molecular diagnosis of congenital hypothyroidism with total or partial iodide organification defect, screening for TPO mutations
Molecular diagnosis of congenital hypothyroidism with total or partial iodide organification defect, screening for TPO mutations
Material Type:
Artigo de Congresso 		Adicionar ao Meu Espaço

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)

4
Volumoso bócio fetal causado por uma mutação em sítio doador de intron alterando o "Splicing" do gene da tireoglobulina (TG)
Volumoso bócio fetal causado por uma mutação em sítio doador de intron alterando o "Splicing" do gene da tireoglobulina (TG)
Material Type:
Artigo de Congresso 		Adicionar ao Meu Espaço

Volumoso bócio fetal causado por uma mutação em sítio doador de intron alterando o "Splicing" do gene da tireoglobulina (TG)

Viviane L. V. Pardo Ileana G. S Rubio; Manuel H Oliveira; Hector Targovnik; Geraldo Medeiros-Neto; Encontro Brasileiro de Tireóide (12. 2006 Curitiba)

Arquivos Brasileiros de Endocrinologia e Metabologia São Paulo v. 50, n. 3, supl. 1, p. S325, res. PO-89 2006

São Paulo 2006

Item não circula. Consulte sua biblioteca.(Acessar)

5
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)

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
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.

8
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.

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Deste Autor:

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

Neste Assunto:

  1. Mutação Genética
  2. Resumos (Eventos)
  3. Hipotireoidismo (Congênito)
  4. Hipotireoidismo
  5. Glicoproteínas

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

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