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Refinado por: autor: Domenice, S remover 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
Quality of Life in a Large Cohort of Patients with 46,XX and 46,XY Disorders of Sex Development (DSD)
Quality of Life in a Large Cohort of Patients with 46,XX and 46,XY Disorders of Sex Development (DSD)
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Quality of Life in a Large Cohort of Patients with 46,XX and 46,XY Disorders of Sex Development (DSD)

R. C. Amaral V. N Brito; S Domenice; A Olvieira; M. H Sircil; B. B Mendonça; I. J. P Arnhold; E. M. F Costa; M Inacio; 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. 7, res. 20, 2010

Basel 2010

Acesso online. A biblioteca também possui exemplares impressos.

3
The Role of SRY Mutations in the Etiology of Gonadal Dysgenesis in Patients with 45,X/46,XY Disorder of Sex Development and Variants
The Role of SRY Mutations in the Etiology of Gonadal Dysgenesis in Patients with 45,X/46,XY Disorder of Sex Development and Variants
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The Role of SRY Mutations in the Etiology of Gonadal Dysgenesis in Patients with 45,X/46,XY Disorder of Sex Development and Variants

Mirian Yumie Nishi Elaine Maria Frade Costa; Suely Beirão Oliveira; Berenice Bilharinho Mendonca; Sorahia Domenice

Hormone Research in Paediatrics Basel v. 75, n. 1, p. 26-31, 2011

Basel 2011

Acesso online. A biblioteca também possui exemplares impressos.

4
The Role of SRY Mutations in the Etiology of Gonadal Dysgenesis in Patients with 45,X/46,XY Disorder of Sex Development and Variants
The Role of SRY Mutations in the Etiology of Gonadal Dysgenesis in Patients with 45,X/46,XY Disorder of Sex Development and Variants
Material Type:
Artigo 		Adicionar ao Meu Espaço

The Role of SRY Mutations in the Etiology of Gonadal Dysgenesis in Patients with 45,X/46,XY Disorder of Sex Development and Variants

Mirian Yumie Nishi Elaine Maria Frade Costa; Suely Beirão Oliveira; Berenice Bilharinho Mendonca; Sorahia Domenice

Hormone Research in Paediatrics Basel v. 75, n. 1, p. 26-31, 2011

Basel 2011

Acesso online. A biblioteca também possui exemplares impressos.

5
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)

6
A novel heterozygous nonsense mutation (p.K248X) in wilms´ tumor gene (WT1) in a 46,XY patient with Denys-Drash syndrome
A novel heterozygous nonsense mutation (p.K248X) in wilms´ tumor gene (WT1) in a 46,XY patient with Denys-Drash syndrome
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A novel heterozygous nonsense mutation (p.K248X) in wilms´ tumor gene (WT1) in a 46,XY patient with Denys-Drash syndrome

Thatiana E. Silva Mariza G Santos; Regina M Martin; Miriam N Nishi; Elaine E. M. F Costa; Berenice B Mendonca; Sorahia Domenice; Annual meeting of the European Society for Pediatric Endocrinology (ESPE) 2010 Prague) (49.

Hormone Research in Paediatrics Basel v. 74, n. suppl. 3, p. 207, res. P2-d2.690, 2010

Basel 2010

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

7
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

8
The Effect of Transdermic Dihydrotestosterone Gel Treatment on Penile Size Experience with Fifteen Patients
The Effect of Transdermic Dihydrotestosterone Gel Treatment on Penile Size Experience with Fifteen Patients
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The Effect of Transdermic Dihydrotestosterone Gel Treatment on Penile Size Experience with Fifteen Patients

R. B. Silva C. R Gomes; M. P Brandão; S Domenice; A. A. L Jorge; E. M Costa Mendonça. B. B.; 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. 7 res. 17, 2011

Basel 2011

Acesso online

9
Analysis of Rspo1 in Patients with Disorder of Sex Development 46,XX Ovotesticular
Analysis of Rspo1 in Patients with Disorder of Sex Development 46,XX Ovotesticular
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Analysis of Rspo1 in Patients with Disorder of Sex Development 46,XX Ovotesticular

R. B. Silva M. Y Nishi; S Domenice; A. Z Machado; T. E Silva; M. A. G Santos; M. P Brandão; B Mendonça; E. M. F Costa; 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. 23, res. 62, 2011

Basel 2011

Acesso online

10
Novel Mutation in Rspo1 in Patient with Disorder of Sexual Development 46, XX Testicular Associated to Hiperceratose Palmoplantaris
Novel Mutation in Rspo1 in Patient with Disorder of Sexual Development 46, XX Testicular Associated to Hiperceratose Palmoplantaris
Material Type:
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Novel Mutation in Rspo1 in Patient with Disorder of Sexual Development 46, XX Testicular Associated to Hiperceratose Palmoplantaris

R. Silva S Domenice; M Nishi; A Machado; T Silva; M Santos; M Brandão; B Mendonça; E Costa; 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. 22 res. 58, 2011

Basel 2011

Acesso online

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