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Refinado por: autor: Arnhold, I remover assunto: Genes (Análise) remover assunto: Mutação Genética remover
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1
A Novel Mutation in CBX2 Gene in a Brazilian Patient with 46,XY Disorders of Sex Development (DSD) Due to Gonadal Dysgenesis
A Novel Mutation in CBX2 Gene in a Brazilian Patient with 46,XY Disorders of Sex Development (DSD) Due to Gonadal Dysgenesis
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A Novel Mutation in CBX2 Gene in a Brazilian Patient with 46,XY Disorders of Sex Development (DSD) Due to Gonadal Dysgenesis

C. R. Gomes S Domenice; B. B Mendonça; I. J. P Arnhold; E. M. F Costa; Annual meeting of the Sociedad Latino-Americana de Endocrinología Pediátrica (SLEP) 2010 Costa do Sauípe, Bahia, Brazil) (21.

Hormone Research in Paediatrics Basel v. 74, n. suppl. 1, p. 6, res. 17, 2010

Basel 2010

Acesso online. A biblioteca também possui exemplares impressos.

2
Considerable frequency of novel GLI2 missense witations in patientes with hypopituitarism without holoprosencephaly
Considerable frequency of novel GLI2 missense witations in patientes with hypopituitarism without holoprosencephaly
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Considerable frequency of novel GLI2 missense witations in patientes with hypopituitarism without holoprosencephaly

Marcela França Alexander Jorge; Aline Otto; Luciani Carvalho; Berenice Bilharinho de Mendonça; Ivo J. P Arnhold; Annual meeting of the european (50. 2011 Basel)

Basel v. 76, suppl. 2, p. 25

Basel 2011

Acesso online. A biblioteca também possui exemplares impressos.

3
Mutations of the KISS1 gene in disorders of puberty
Mutations of the KISS1 gene in disorders of puberty
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Mutations of the KISS1 gene in disorders of puberty

L. G. Silveira S. D Noel; A. P Silveira-Neto; A. P Abreu; V. N Brito; M. G Santos; S. D. C Bianco; W Kuohung; S Xu; M Gryngarten; M. E Escobar; I. J. P Arnhold; B. B Mendonca; U. B Kaiser; A. C Latronico

Journal of Clinical Endocrinology and Metabolism Philadelphia v. 95, n. 5, p. 2276-2280, 2010

Philadelphia 2010

Acesso online. A biblioteca também possui exemplares impressos.

4
Novel inactivating mutations in the GH secretagogue receptor gene in patients with constitutional delay of growth and puberty
Novel inactivating mutations in the GH secretagogue receptor gene in patients with constitutional delay of growth and puberty
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Novel inactivating mutations in the GH secretagogue receptor gene in patients with constitutional delay of growth and puberty

Patricia N. Pugliese Pires Jean-Philippe Fortin; Thais Arthur; Ana Claudia Latronico Xavier; Berenice Bilharinho de Mendonça; Sandra Mara F Villares; Ivo J. P Arnhold; Alan S Kopin; Alexander Augusto de Lima Jorge

European journal of endocrinology Oslo v. 165, n. 2, p. 233-241, 2011

Oslo 2011

Localização: FM - Fac. Medicina    (BCSEP 173 2011 )(Acessar)

5
Mutations of the KISS1 gene in disorders of puberty
Mutations of the KISS1 gene in disorders of puberty
Material Type:
Artigo 		Adicionar ao Meu Espaço

Mutations of the KISS1 gene in disorders of puberty

L. G. Silveira S. D Noel; A. P Silveira-Neto; A. P Abreu; V. N Brito; M. G Santos; S. D. C Bianco; W Kuohung; S Xu; M Gryngarten; M. E Escobar; I. J. P Arnhold; B. B Mendonca; U. B Kaiser; A. C Latronico

Journal of Clinical Endocrinology and Metabolism Philadelphia v. 95, n. 5, p. 2276-2280, 2010

Philadelphia 2010

Acesso online. A biblioteca também possui exemplares impressos.

6
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
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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)

7
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)

8
Novel Mutations (p.G6R and p.R511W) in IGF1R Gene in Children Born Small for Gestational Age (SGA) Without Catch-up Growth
Novel Mutations (p.G6R and p.R511W) in IGF1R Gene in Children Born Small for Gestational Age (SGA) Without Catch-up Growth
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Novel Mutations (p.G6R and p.R511W) in IGF1R Gene in Children Born Small for Gestational Age (SGA) Without Catch-up Growth

D. C. Coutinho A. C Leal; L. M Ribeiro; B. B Mendonça; I. J. P Arnhold; A. A. L Jorge; Annual meeting of the Sociedad Latino-Americana de Endocrinología Pediátrica (SLEP) 2010 Costa do Sauípe, Bahia, Brazil) (21.

Hormone Research in Paediatrics Basel v. 74, n. suppl. 1, p. 2, res. 5, 2010

Basel 2010

Acesso online. A biblioteca também possui exemplares impressos.

9
Mutational analysis of LIN28B gene in children with idiopathic central precocious puberty
Mutational analysis of LIN28B gene in children with idiopathic central precocious puberty
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Mutational analysis of LIN28B gene in children with idiopathic central precocious puberty

Acacio Silveira-Neto Leticia G Silveira; Daiane Beneduzzi; Vinicius N Brito; Priscila Cukier; I. J Arnhold; Berenice B Mendonca; Ana C Latronico; Annual meeting of the European Society for Pediatric Endocrinology (ESPE) 2010 Prague) (49.

Hormone Research in Paediatrics Basel v. 74, n. suppl. 3, p. 45, res. FC13-151, 2010

Basel 2010

Localização: FM - Fac. Medicina    (BCSEP 311 2010 )(Acessar)

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Deste Autor:

  1. Arnhold, I
  2. Mendonça, B
  3. Jorge, A
  4. Latronico, A
  5. Silveira Neto, A

Neste Assunto:

  1. Genes (Análise)
  2. Mutação Genética
  3. Resumos (Eventos)
  4. Fenótipos
  5. Dna (Análise)

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

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