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Refinado por: autor: Arnhold, I remover assunto: Genes (Análise) 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
Material Type:
Artigo de Congresso 		Adicionar ao Meu Espaço

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
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.

5
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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Artigo 		Adicionar ao Meu Espaço

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)

6
The Sitting Height/Height Ratio for Age in Healthy and Short Individuals and Its Potential Role in Selecting Short Children for SHOX Analysis
The Sitting Height/Height Ratio for Age in Healthy and Short Individuals and Its Potential Role in Selecting Short Children for SHOX Analysis
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The Sitting Height/Height Ratio for Age in Healthy and Short Individuals and Its Potential Role in Selecting Short Children for SHOX Analysis

A. C. Malaquias R. C Scalco; E. G. P Fontenele; E. F Costalonga; A. D Baldin; A. F Braz; M. F. A Funari; M. Y Nishi; G Guerra-Junior; B. B Mendonca; I. J. P Arnhold; A. A. L Jorge

Hormone Research in Paediatrics Basel v. 80, n. 6 p. 449-456, 2013

Basel 2013

Acesso online. A biblioteca também possui exemplares impressos.

7
The sitting heigh/height ratio for age is a simple and useful tool to select children with idiopathic short stature for SHOX studies
The sitting heigh/height ratio for age is a simple and useful tool to select children with idiopathic short stature for SHOX studies
Material Type:
Artigo de Congresso 		Adicionar ao Meu Espaço

The sitting heigh/height ratio for age is a simple and useful tool to select children with idiopathic short stature for SHOX studies

Alexsandra C. Malaquias Eveline G. P Fontenele; Everlayny F Costalonga; Renata C Scalcao; Mariana F. A Funari; Mirian Nishi; Ivo J.P Arnhold; Alexander Augusto de Lima Jorge; Berenice Bilharinho de Mendonça; European Society for Paediatric Endocrinology (ESPE)/ Joint Meeting (9. 2013 Milan, Italy)

Hormone Research in Paediatrics Basel v. 80, suppl. 1, p. 161, res. P1-d2-482, 2013

Basel 2013

Localização: FM - Fac. Medicina    (BCSEP 418 2013 )(Acessar)

8
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)

9
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)

10
Analyses of the GLI2 Gene in Patients with Congenital Isolated GH Deficiency (IGHD) or Associated to Other Pituitary Hormone Deficiencies (CPHD) Without Holoprosencephaly (HPE)
Analyses of the GLI2 Gene in Patients with Congenital Isolated GH Deficiency (IGHD) or Associated to Other Pituitary Hormone Deficiencies (CPHD) Without Holoprosencephaly (HPE)
Material Type:
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Analyses of the GLI2 Gene in Patients with Congenital Isolated GH Deficiency (IGHD) or Associated to Other Pituitary Hormone Deficiencies (CPHD) Without Holoprosencephaly (HPE)

M. França A Jorge; L Carvalho; A Otto; F Corrêa; E Costalonga Mendonça. B.; I Arnhold; Annual Meeting of the Sociedad Latino-Americana de Endocrinología Pediátrica (SLEP) (22. 2011 Cartagena de Indias, Colombia)

Hormone Research in Paediatrics Basel v. 76, n. suppl. 4, p. 1, res. 2, 2011

Basel 2011

Acesso online

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Deste Autor:

  1. Arnhold, I
  2. Mendonça, B
  3. Jorge, A
  4. Nishi, M
  5. Mendonca, B

Neste Assunto:

  1. Mutação Genética
  2. Resumos (Eventos)
  3. Fenótipos
  4. Hormônio Do Crescimento (Deficiência)
  5. Dna (Análise)

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

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