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1
Screening of gene dosage imbalances in patients with 46, XY or 46.XX disorders of sex development due to abnormalities of gonadal development (DGD) by multiplex ligation-dependent probe amplification (MLPA) analysis
Screening of gene dosage imbalances in patients with 46, XY or 46.XX disorders of sex development due to abnormalities of gonadal development (DGD) by multiplex ligation-dependent probe amplification (MLPA) analysis
Material Type:
Artigo de Congresso 		Adicionar ao Meu Espaço

Screening of gene dosage imbalances in patients with 46, XY or 46.XX disorders of sex development due to abnormalities of gonadal development (DGD) by multiplex ligation-dependent probe amplification (MLPA) analysis

M. Y. Nishi M. G Santos; E. M. F Costa; C. R Gomes; M. P Brandão; E. M Pinto; B. B Mendonça; S Domenice; International Congress of Endocrinology 2008 (13. Rio de Janeiro)

Arquivos Brasileiros de Endocrinologia e Metabologia São Paulo v. 52, supl. 6, parte II, p. S1010-1011, res. PO-0630, 2008

São Paulo 2008

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

2
Pitfalls in hormonal diagnosis of 17-beta hydroxysteroid dehydrogenase III deficiency
Pitfalls in hormonal diagnosis of 17-beta hydroxysteroid dehydrogenase III deficiency
Material Type:
Artigo 		Adicionar ao Meu Espaço

Pitfalls in hormonal diagnosis of 17-beta hydroxysteroid dehydrogenase III deficiency

Ahmed Khattab Tony Yuen; Mabel Yau; Sorahia Domenice; Elaine Maria Frade Costa; Kazmi Diya; Dwaipayan Muhuri; Christian Enrique Pina; Mirian Yumie Nishi; Amy C Yang; Berenice Bilharinho de Mendonça; Maria I New

Journal of pediatric endocrinology & metabolism London v. 28, n. 5-6, p. 623-628, 2015

London 2015

Localização: FM - Fac. Medicina    (BCSEP 274 2015 )(Acessar)

3
Tall stature, absence of breast development and gonadal estrogen deficiency in a 45,X/46,X,der(X) patiente-overdosage of SHOX gene
Tall stature, absence of breast development and gonadal estrogen deficiency in a 45,X/46,X,der(X) patiente-overdosage of SHOX gene
Material Type:
Artigo de Congresso 		Adicionar ao Meu Espaço

Tall stature, absence of breast development and gonadal estrogen deficiency in a 45,X/46,X,der(X) patiente-overdosage of SHOX gene

R. V. Correa M. Y Nishi; A. L Cruzes; L. R. S Carvalho; E. M. F Costa; B. B Mendonca; International Congress of Endocrinology (12. 2004 Lisboa)

Program and Abstracts Lisboa: International Society of Endocrinology, 2004

Lisboa International Society of Endocrinology 2004

Localização: FM - Fac. Medicina    (BCSEP 357 2004 )(Acessar)

4
Prevalência de mutações no gene do receptor do GnRH (GnRH) em pacientes com hipogonadismo hipogonadotrófico sem alterações do olfato (HH)
Prevalência de mutações no gene do receptor do GnRH (GnRH) em pacientes com hipogonadismo hipogonadotrófico sem alterações do olfato (HH)
Material Type:
Artigo de Congresso 		Adicionar ao Meu Espaço

Prevalência de mutações no gene do receptor do GnRH (GnRH) em pacientes com hipogonadismo hipogonadotrófico sem alterações do olfato (HH)

E. M. F. Costa A. C Latronico; I. J. P Arnhold; B. B Mendonca; Congresso Brasileiro de Endocrinologia e Metabologia (26. 2004 Florianópolis)

Arquivos Brasileiros de Endocrinologia & Metabologia São Paulo v. 48, n. 5, supl. 1, p. S499, res. TLO26, 2004

São Paulo Sociedade Brasileira de Endocrinologia e Metabologia - SBEM 2004

Item não circula. Consulte sua biblioteca.(Acessar)

5
A homozigous 25 Bp duplication (Nt 4157-4181) at exon 5 in the CYP17 resulting in a premature stop codon as a new cause of combined 17alpha-hydroxylase/17,20-lyase deficiency
A homozigous 25 Bp duplication (Nt 4157-4181) at exon 5 in the CYP17 resulting in a premature stop codon as a new cause of combined 17alpha-hydroxylase/17,20-lyase deficiency
Material Type:
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A homozigous 25 Bp duplication (Nt 4157-4181) at exon 5 in the CYP17 resulting in a premature stop codon as a new cause of combined 17alpha-hydroxylase/17,20-lyase deficiency

Regina M. Martin Elaine F Costa; Ivo J. P Arnhold; Berenice B Mendonça; The Endocrine Society's Annual Meeting (87. 2005 San Diego)

Program and Abstracts San Diego, 2005

San Diego 2005

Localização: FM - Fac. Medicina    (BCSEP 353 2005 )(Acessar)

6
First report of a sucessful singleton live birth in a female with 17-hydroxylase deficiency through IVF frozen thawed embryotransfer adequate endometrial preparation
First report of a sucessful singleton live birth in a female with 17-hydroxylase deficiency through IVF frozen thawed embryotransfer adequate endometrial preparation
Material Type:
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First report of a sucessful singleton live birth in a female with 17-hydroxylase deficiency through IVF frozen thawed embryotransfer adequate endometrial preparation

P. H. M. Bianchi P. C Serafini; P. A. A Monteleone; S Domecine; E. M. F Costa; B. B Mendonça; E. C Baracat; Annual Meeting of the American Society for Reproductive Medicine Hawai) 2014 (70.

Fertility and Sterility New York v. 102, n. 3, Supl. p. e504, res. P-347, 2014

New York 2014

Localização: FM - Fac. Medicina    (BCSEP 228 2014 )(Acessar)

7
Mutational analysis of neuropeptide y-y1 receptor gene (npy-y1) in human idiopathic pubertal disorders
Mutational analysis of neuropeptide y-y1 receptor gene (npy-y1) in human idiopathic pubertal disorders
Material Type:
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Mutational analysis of neuropeptide y-y1 receptor gene (npy-y1) in human idiopathic pubertal disorders

K. Freitas V Brito; E Costa; I Arnhold; B. B Mendonca; A. C Latronico; International Congress of Endocrinology (12. 2004 Lisboa)

Program and Abstracts Lisboa: International Society of Endocrinology, 2004

Lisboa International Society of Endocrinology 2004

Localização: FM - Fac. Medicina    (BCSEP 357 2004 )(Acessar)

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