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Refinado por: assunto: Mutação Genética remover
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1
Genetic alterations related to Cystinuria – a genome wide assocaition analysis
Genetic alterations related to Cystinuria – a genome wide assocaition analysis
Material Type:
Artigo de Congresso 		Adicionar ao Meu Espaço

Genetic alterations related to Cystinuria – a genome wide assocaition analysis

Sabrina Reis Nayara Viana; Katia Leite; Felipe Magioni; Fabio Torricelli; Giovanni Marchinni; Miguel Srougi; Eduardo Mazzucchi; Annual Meeting Program Abstracts (2016 San Diego, CA)

Journal of urology Baltimore v. 195, n. 4S, p. e780-781 abstr. MP58-12, 2016

Baltimore 2016

Acesso online. A biblioteca também possui exemplares impressos.

2
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)

3
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)

4
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)

5
Impact of growth hormone therapy on adult height in patients with PTPN11 mutations related to Noonan Syndrome
Impact of growth hormone therapy on adult height in patients with PTPN11 mutations related to Noonan Syndrome
Material Type:
Artigo 		Adicionar ao Meu Espaço

Impact of growth hormone therapy on adult height in patients with PTPN11 mutations related to Noonan Syndrome

Alexsandra C Malaquias Renata M Noronha; Thaiana T. O Souza; Thais K Homma; Mariana F. A Funari; Guilherme L Yamamoto; Fernanda Viana Silva; Michelle B Moraes; Chong Ae Kim; Alexander Augusto de Lima Jorge

Hormone research in paediatrics v. 91, n. 4, p. 252-261, 2019

Basel 2019

Acesso online. A biblioteca também possui exemplares impressos.

6
p27 variant and corticotropinoma susceptibility a genetic and in vitro study
p27 variant and corticotropinoma susceptibility a genetic and in vitro study
Material Type:
Artigo 		Adicionar ao Meu Espaço

p27 variant and corticotropinoma susceptibility a genetic and in vitro study

Tomoko Sekiya Marcello Delano Bronstein; Katiuscia Benfini; Viviane Cristina Longuini; Raquel Soares Jallad; Marcio Cardoso Machado; Tatiana Denk Gonçalves; Luciana Harumi Osaki; Leonardo Higashi; Jose Viana Junior; Claudio Kater; Misu Lee; Sara Molatore; Guilherme Francisco; Roger Chammas; Michel Naslavsky; David Schlesinger; Patrícia Gama; Yeda Aparecida de Oliveira Duarte; Maria Lúcia Lebrão; Mayana Zatz; Osorio Meirelles; Bernardo Liberman; Maria Candida Barisson Villares Fragoso; Sergio Pereira de Almeida Toledo; Natalia S Pellegata; Rodrigo de Almeida Toledo

Endocrine-Related Cancer Woodlands v. 21, n. 3, p. 395-404, 2014

Woodlands 2014

Item não circula. Consulte sua biblioteca.(Acessar)

7
Admixture/fine-mapping in Brazilians reveals a West African associated potential regulatory variant (rs114066381) with a strong female-specific effect on body mass- and fat mass-indexes
Admixture/fine-mapping in Brazilians reveals a West African associated potential regulatory variant (rs114066381) with a strong female-specific effect on body mass- and fat mass-indexes
Material Type:
Artigo 		Adicionar ao Meu Espaço

Admixture/fine-mapping in Brazilians reveals a West African associated potential regulatory variant (rs114066381) with a strong female-specific effect on body mass- and fat mass-indexes

Marilia O Scliar Hanaisa P, Sant Anna; Meddly L Santolalla; Thiago P Leal; Nathalia M Araújo; Isabela Alvim; Victor Borda; Wagner C. S Magalhães; Mateus H Gouveia; Ricardo Lyra; Moara Machado; Lucas Michelin; Maíra R Rodrigues; Gilderlanio S Araújo; Fernanda S. G Kehdy; Camila Zolini; Sérgio Viana Peixoto; Marcelo Luizon; Francisco Lobo; Michel Naslavsky; Guilherme Lopes Yamamoto; Yeda Aparecida de Oliveira Duarte; Matthew E. B Hansen; Shane A Norris; Robert H Gilman; Heinner Guio; Ann W Hsing; Sam M Mbulaiteye; James Mensah; Julie Dutil; Meredith Yeager; Edward Yeboah; Sarah A Tishkoff; Ananyo Choudhury; Michele Ramsay; Maria Rita Passos-Bueno; Mayana Zatz; Timothy D O’Connor; Alexandre C Pereira; Mauricio L Barreto; Maria Fernanda Lima-Costa; Bernardo L Horta; Eduardo Tarazona-Santos

BioRxiv New York In Press, on-line, 2019

New York 2019

Item não circula. Consulte sua biblioteca.(Acessar)

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Deste Autor:

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

Neste Assunto:

  1. Hipotireoidismo
  2. Fenótipos
  3. Doenças Hereditárias
  4. Glândula Tireoide (Fisiopatologia)
  5. Adenoma

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

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