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1
Clinical and molecular analysis of three Mexican families with Pendred's syndrome
Clinical and molecular analysis of three Mexican families with Pendred's syndrome
Material Type:
Artigo de Congresso 		Adicionar ao Meu Espaço

Clinical and molecular analysis of three Mexican families with Pendred's syndrome

O. Gonzalez Trevino O Arseven Karamanoglu; C. J Ceballos; V. I Vives; R. C Ramirez; V. V Gomez; G Medeiros-Neto; P Kopp

European Journal of Endocrinology Reino Unido v. 144, n. 6, p. 585-593, 2001

Reino Unido 2001

Item não circula. Consulte sua biblioteca.(Acessar)

2
Molecular analysis of the TSH-receptor gene in five kindreds with congenital hypothyroidism due to thyroid hypoplasia
Molecular analysis of the TSH-receptor gene in five kindreds with congenital hypothyroidism due to thyroid hypoplasia
Material Type:
Artigo 		Adicionar ao Meu Espaço

Molecular analysis of the TSH-receptor gene in five kindreds with congenital hypothyroidism due to thyroid hypoplasia

C. R. Nogueira P Kopp; J Rodrigues; G Medeiros-Neto; Merck European Thyroid Symposium (1998 Italy)

The thyroid and age New York p. 2, res. 332, 1998

New York 1998

Localização: FM - Fac. Medicina    (BCSEP 1998 255 )(Acessar)

3
Molecular analysis of the TSH-receptor gene in five kindreds with congenital hypothyroidism due to thyroid hypoplasia
Molecular analysis of the TSH-receptor gene in five kindreds with congenital hypothyroidism due to thyroid hypoplasia
Material Type:
Artigo 		Adicionar ao Meu Espaço

Molecular analysis of the TSH-receptor gene in five kindreds with congenital hypothyroidism due to thyroid hypoplasia

C. R. Nogueira P Kopp; J Rodrigues; G Medeiros-Neto; Merck European Thyroid Symposium (1998 Italy)

The thyroid and age New York p. 2, res. 332, 1998

New York 1998

Localização: FM - Fac. Medicina    (BCSEP 1998 255 )(Acessar)

4
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)

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
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.

7
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)

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Deste Autor:

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

Neste Assunto:

  1. Mutação Genética
  2. Crianças
  3. Genótipos
  4. Hipotireoidismo
  5. Glicoproteínas

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

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