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Refinado por: Nome da Publicação: Hormone Research in Paediatrics 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
Analysis of Sox9 gene expression regulatory region in 46,XY DSD patients without campomelic dysplasia
Analysis of Sox9 gene expression regulatory region in 46,XY DSD patients without campomelic dysplasia
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Analysis of Sox9 gene expression regulatory region in 46,XY DSD patients without campomelic dysplasia

Marina Fanelli Rosana B. Silva Silva; Sorahia Domenice; Berenice Bilharinho de Mendonça; Elaine M. F Costa; European Society for Paediatric Endocrinology (ESPE)/ Joint Meeting (9. 2013 Milan, Italy)

Hormone Research in Paediatrics Basel v. 80, suppl. 1, p. 185, res. P1-d2-583, 2013

Basel 2013

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

3
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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Artigo 		Adicionar ao Meu Espaço

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.

4
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)

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
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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)

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
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)

7
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)
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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

8
A Novel Heterozygous Missense Variant on FGFR2 Gene in Two 46,XY Sisters with Non-syndromic Partial Gonadal Dysgenesis
A Novel Heterozygous Missense Variant on FGFR2 Gene in Two 46,XY Sisters with Non-syndromic Partial Gonadal Dysgenesis
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A Novel Heterozygous Missense Variant on FGFR2 Gene in Two 46,XY Sisters with Non-syndromic Partial Gonadal Dysgenesis

A. Zamboni M Gerdulo; M. Y Nishi; M Pontual; E Frade Mendonça. B.; S Domenice; 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. 4, res. 10, 2011

Basel 2011

Acesso online

9
Polymorphism rs8081612 in the mitogen-activated protein 3 kinase 3 (MAP3K3) gene is associated with children height ina brazilian cohort
Polymorphism rs8081612 in the mitogen-activated protein 3 kinase 3 (MAP3K3) gene is associated with children height ina brazilian cohort
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Polymorphism rs8081612 in the mitogen-activated protein 3 kinase 3 (MAP3K3) gene is associated with children height ina brazilian cohort

Eveline Gadelha Pereira Fontenele Catarina B d'Alva; Daniel P Pinheiro Trarbarch,Ericka; Berenice Bilharinho de Mendonça; Maria Elisabete A Moraes; Alexander Augusto de Lima Jorge; European Society for Paediatric Endocrinology (ESPE)/ Joint Meeting (9. 2013 Milan, Italy)

Hormone Research in Paediatrics Basel v. 80, suppl. 1, p. 295, res. P2-d1-954, 2013

Basel 2013

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

10
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.

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