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1
Complete deletion of the PROP1 gene in two sibling with combined pituitary hormone deficiency (CPHD)
Complete deletion of the PROP1 gene in two sibling with combined pituitary hormone deficiency (CPHD)
Material Type:
Artigo de Congresso 		Adicionar ao Meu Espaço

Complete deletion of the PROP1 gene in two sibling with combined pituitary hormone deficiency (CPHD)

M. G. Abrao L Carvalho; M. V Leite; M Nishi; A Barbosa; I. J. P Arnhold; B. B Mendonça; Annual Meeting of the Sociedad Latinoamericana de Endocrinologia Pediátrica (SLEP) (17. 2004 Angra dos Reis)

Journal of pediatric endocrinology and metabolism London v. 17, n. suppl.5, p. 1345, res. Poster 1, 2004

London 2004

Localização: FM - Fac. Medicina    (BCSEP 355 2004 ) e outros locais(Acessar)

2
Intragenic delection of the shox gene in a family with Léri-Well dyschondrosteosis detected by multiplex ligation-dependent probe amplification (MLPA)
Intragenic delection of the shox gene in a family with Léri-Well dyschondrosteosis detected by multiplex ligation-dependent probe amplification (MLPA)
Material Type:
Artigo de Congresso 		Adicionar ao Meu Espaço

Intragenic delection of the shox gene in a family with Léri-Well dyschondrosteosis detected by multiplex ligation-dependent probe amplification (MLPA)

M. F. A. Funari A. A. L Jorge; I. J. P Arnhold; E. M Pinto; B. B Mendonça Nishi. M. Y.; International Congress of Endocrinology 2008 (13. Rio de Janeiro)

Arquivos Brasileiros de Endocrinologia e Metabologia São Paulo v. 52, supl. 6, parte II, p. S794, res. OP-097, 2008

São Paulo 2008

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

3
Cryptic intragenic deletion of the SHOX gene in a family with Léri-Weill dyschondrosteosis detected by Multiplex Ligation-Dependent Probe Amplification (MLPA)
Cryptic intragenic deletion of the SHOX gene in a family with Léri-Weill dyschondrosteosis detected by Multiplex Ligation-Dependent Probe Amplification (MLPA)
Material Type:
Artigo 		Adicionar ao Meu Espaço

Cryptic intragenic deletion of the SHOX gene in a family with Léri-Weill dyschondrosteosis detected by Multiplex Ligation-Dependent Probe Amplification (MLPA)

Mariana F. A. Funari Alexander A. L Jorge; Emilia M Pinto; Ivo J. P Arnhold; Berenice B Mendonca; Mirian Y Nishi

Arquivos Brasileiros de Endocrinologia e Metabologia São Paulo v. 52, n. 8, p. 1382-1387, 2008

São Paulo 2008

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

4
GH-Releasing hormone receptor gene a novel splice-disrupting mutation and study of founder effects
GH-Releasing hormone receptor gene a novel splice-disrupting mutation and study of founder effects
Material Type:
Artigo 		Adicionar ao Meu Espaço

GH-Releasing hormone receptor gene a novel splice-disrupting mutation and study of founder effects

Suemi Marui Ericka b Trabach; Margaret C. S Boguszewski; Marcela M França; Alexander A. L Jorge; Hiroshi Inoue; Mirian Y Nishi; Luiz de Lacerda Filho; Manuel H Aguiar-Oliveira; Berenice B Mendonça; Ivo J. P Arnhold

Hormone research in paediatrics Basel v.78, n. 3, p. 165-172, 2012

Basel 2012

Localização: FM - Fac. Medicina    (BCSEP 334 2012 )(Acessar)

5
GH-Releasing hormone receptor gene a novel splice-disrupting mutation and study of founder effects
GH-Releasing hormone receptor gene a novel splice-disrupting mutation and study of founder effects
Material Type:
Artigo 		Adicionar ao Meu Espaço

GH-Releasing hormone receptor gene a novel splice-disrupting mutation and study of founder effects

Suemi Marui Ericka b Trabach; Margaret C. S Boguszewski; Marcela M França; Alexander A. L Jorge; Hiroshi Inoue; Mirian Y Nishi; Luiz de Lacerda Filho; Manuel H Aguiar-Oliveira; Berenice B Mendonça; Ivo J. P Arnhold

Hormone research in paediatrics Basel v.78, n. 3, p. 165-172, 2012

Basel 2012

Localização: FM - Fac. Medicina    (BCSEP 334 2012 )(Acessar)

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