skip to main content
Idioma:
Mostrar Somente
Refinado por: autor: Targovnik, H remover
Result Number Material Type Add to My Shelf Action Record Details and Options
1
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)

2
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.

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
Two distinct compound heterozygous constellation (R277X / IVS34-1G>C and R277X / R1511X) in the thyroglobulin gene in affected individuals of a Brazilian kindred with congenital goiter and defective thyroglobulin synthesis
Two distinct compound heterozygous constellation (R277X / IVS34-1G>C and R277X / R1511X) in the thyroglobulin gene in affected individuals of a Brazilian kindred with congenital goiter and defective thyroglobulin synthesis
Material Type:
Artigo 		Adicionar ao Meu Espaço

Two distinct compound heterozygous constellation (R277X / IVS34-1G>C and R277X / R1511X) in the thyroglobulin gene in affected individuals of a Brazilian kindred with congenital goiter and defective thyroglobulin synthesis

Viviana J. Gutnisky Christian M Moya; Carina M Rivolta; Sabina Domené; Viviana Varela; Jussara V Toniolo; Geraldo Medeiros-Neto; Héctor M Targovnik

Journal of Clinical Endocrinology and Metabolism Philadelphia v. 89, n. 2, p. 646-657, 2004

Philadelphia 2004

Localização: FM - Fac. Medicina    (BCSEP 155 2004 )(Acessar)

5
Two distinct compound heterozygous constellation (R277X / IVS34-1G>C and R277X / R1511X) in the thyroglobulin gene in affected individuals of a Brazilian kindred with congenital goiter and defective thyroglobulin synthesis
Two distinct compound heterozygous constellation (R277X / IVS34-1G>C and R277X / R1511X) in the thyroglobulin gene in affected individuals of a Brazilian kindred with congenital goiter and defective thyroglobulin synthesis
Material Type:
Artigo 		Adicionar ao Meu Espaço

Two distinct compound heterozygous constellation (R277X / IVS34-1G>C and R277X / R1511X) in the thyroglobulin gene in affected individuals of a Brazilian kindred with congenital goiter and defective thyroglobulin synthesis

Viviana J. Gutnisky Christian M Moya; Carina M Rivolta; Sabina Domené; Viviana Varela; Jussara V Toniolo; Geraldo Medeiros-Neto; Héctor M Targovnik

Journal of Clinical Endocrinology and Metabolism Philadelphia v. 89, n. 2, p. 646-657, 2004

Philadelphia 2004

Localização: FM - Fac. Medicina    (BCSEP 155 2004 )(Acessar)

6
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)

7
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)

8
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)

Personalize Seus Resultados

  1. Editar

Refine Search Results

Expandir Meus Resultados

  1.   

Mostrar Somente

  1. Recursos Online (2)
  2. Disponível na Biblioteca (7)

Novas Pesquisas Sugeridas

Ignorar minha busca e procurar por tudo

Deste Autor:

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

Neste Assunto:

  1. Mutação Genética
  2. Hipotireoidismo
  3. Sequenciamento Genético
  4. Glicoproteínas
  5. Polimorfismo

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

Buscando em bases de dados remotas. Favor aguardar.