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Refinado por: Nome da Publicação: Clinical Endocrinology remover
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1
Long-term outcomes and molecular analysis of a large cohort of patients with 46,XY disorder of sex development due to partial gonadal dysgenesis
Long-term outcomes and molecular analysis of a large cohort of patients with 46,XY disorder of sex development due to partial gonadal dysgenesis
Material Type:
Artigo 		Adicionar ao Meu Espaço

Long-term outcomes and molecular analysis of a large cohort of patients with 46,XY disorder of sex development due to partial gonadal dysgenesis

Nathalia L. Gomes Berenice Bilharinho de Mendonça

Clinical endocrinology v. 89, n. 2, p. 164-177, 2018

Hoboken 2018

Localização: FM - Fac. Medicina    (OPI 27970 2018 )(Acessar)

2
Molecular analysis of brazilian patients with combined pituitary hormone deficiency and orthotopic posterior pituitary lobe reveals eight different PROP1 alterations with three novel mutations
Molecular analysis of brazilian patients with combined pituitary hormone deficiency and orthotopic posterior pituitary lobe reveals eight different PROP1 alterations with three novel mutations
Material Type:
Artigo 		Adicionar ao Meu Espaço

Molecular analysis of brazilian patients with combined pituitary hormone deficiency and orthotopic posterior pituitary lobe reveals eight different PROP1 alterations with three novel mutations

Joao Lo Madeira Alexander Augusto de Lima Jorge; Berenice Bilharinho de Mendonça

Clinical endocrinology v. 87, n. 6, p. 725-732, 2017

Hoboken 2017

Item não circula. Consulte sua biblioteca.(Acessar)

3
Pathogenic copy number variants in patients with congenital hypopituitarism associated with complex phenotypes
Pathogenic copy number variants in patients with congenital hypopituitarism associated with complex phenotypes
Material Type:
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Pathogenic copy number variants in patients with congenital hypopituitarism associated with complex phenotypes

Fernanda A. Correa Alexander Augusto de Lima Jorge; Berenice Bilharinho de Mendonça

Clinical endocrinology v. 88, n. 3, p. 425-431, 2018

Hoboken 2018

Localização: FM - Fac. Medicina    (OPI 25460 2018 )(Acessar)

4
The first homozygous mutation (S226I) in the highly-conserved WSXWS-like motif of the GH receptor causing Laron syndrome supression of GH secretion by GnRH anlogue therapy not restored by dihydrotestosterone administration
The first homozygous mutation (S226I) in the highly-conserved WSXWS-like motif of the GH receptor causing Laron syndrome supression of GH secretion by GnRH anlogue therapy not restored by dihydrotestosterone administration
Material Type:
Artigo 		Adicionar ao Meu Espaço

The first homozygous mutation (S226I) in the highly-conserved WSXWS-like motif of the GH receptor causing Laron syndrome supression of GH secretion by GnRH anlogue therapy not restored by dihydrotestosterone administration

Alexander A. L. Jorge Silvia C. A. L Souza; Ivo J. P Arnhold; Berenice B Mendonça

Clinical Endocrinology Oxford v. 60, p. 36-40, 2004

Oxford 2004

Localização: FM - Fac. Medicina    (BCSEP 2004 76 )(Acessar)

5
Substitutions in the CYP21A2 promoter explain the simple-virilizing form of 21-hydroxylase deficiency in patients harbouring a P30L mutation
Substitutions in the CYP21A2 promoter explain the simple-virilizing form of 21-hydroxylase deficiency in patients harbouring a P30L mutation
Material Type:
Artigo 		Adicionar ao Meu Espaço

Substitutions in the CYP21A2 promoter explain the simple-virilizing form of 21-hydroxylase deficiency in patients harbouring a P30L mutation

Rogério S. Araujo Ana Elisa C Billerbeck; Guiomar Madureira; Berenice Bilharinho Mendonça; Tânia A. S. S Bachega

Clinical Endocrinology Oxford v. 62, p. 132-136, 2005

Oxford 2005

Acesso online. A biblioteca também possui exemplares impressos.

6
46,XY disorders of sex developement (DSD)
46,XY disorders of sex developement (DSD)
Material Type:
Artigo 		Adicionar ao Meu Espaço

46,XY disorders of sex developement (DSD)

Berenice Bilharinho Mendonça Sorahia Domenice; Ivo J. P Arnhold; Elaine M. F Costa

Clinical endocrinology Oxford v. 70, n.2, p. 173-187, 2009

Oxford 2009

Localização: FM - Fac. Medicina    (FM BCSEP 075 2009 )(Acessar)

7
The first homozygous mutation (S226I) in the highly-conserved WSXWS-like motif of the GH receptor causing Laron syndrome supression of GH secretion by GnRH anlogue therapy not restored by dihydrotestosterone administration
The first homozygous mutation (S226I) in the highly-conserved WSXWS-like motif of the GH receptor causing Laron syndrome supression of GH secretion by GnRH anlogue therapy not restored by dihydrotestosterone administration
Material Type:
Artigo 		Adicionar ao Meu Espaço

The first homozygous mutation (S226I) in the highly-conserved WSXWS-like motif of the GH receptor causing Laron syndrome supression of GH secretion by GnRH anlogue therapy not restored by dihydrotestosterone administration

Alexander A. L. Jorge Silvia C. A. L Souza; Ivo J. P Arnhold; Berenice B Mendonça

Clinical Endocrinology Oxford v. 60, p. 36-40, 2004

Oxford 2004

Localização: FM - Fac. Medicina    (BCSEP 2004 76 )(Acessar)

8
Substitutions in the CYP21A2 promoter explain the simple-virilizing form of 21-hydroxylase deficiency in patients harbouring a P30L mutation
Substitutions in the CYP21A2 promoter explain the simple-virilizing form of 21-hydroxylase deficiency in patients harbouring a P30L mutation
Material Type:
Artigo 		Adicionar ao Meu Espaço

Substitutions in the CYP21A2 promoter explain the simple-virilizing form of 21-hydroxylase deficiency in patients harbouring a P30L mutation

Rogério S. Araujo Ana Elisa C Billerbeck; Guiomar Madureira; Berenice Bilharinho Mendonça; Tânia A. S. S Bachega

Clinical Endocrinology Oxford v. 62, p. 132-136, 2005

Oxford 2005

Acesso online. A biblioteca também possui exemplares impressos.

9
46,XY disorders of sex developement (DSD)
46,XY disorders of sex developement (DSD)
Material Type:
Artigo 		Adicionar ao Meu Espaço

46,XY disorders of sex developement (DSD)

Berenice Bilharinho Mendonça Sorahia Domenice; Ivo J. P Arnhold; Elaine M. F Costa

Clinical endocrinology Oxford v. 70, n.2, p. 173-187, 2009

Oxford 2009

Localização: FM - Fac. Medicina    (FM BCSEP 075 2009 )(Acessar)

10
A study of patients with Nelson`s syndrome
A study of patients with Nelson`s syndrome
Material Type:
Artigo 		Adicionar ao Meu Espaço

A study of patients with Nelson`s syndrome

Maria A Albergaria Pereira Alfredo Halpern; Luiz Roberto Salgado; Berenice Bilharinho de Mendonça; Marcia Nery; Bernardo Liberman; H P David Streetent; Bernardo Leo Wajchenberg

Clinical Endocrinology v. 49, n. 4, p. 533-539, 1998

1998

Item não circula. Consulte sua biblioteca.(Acessar)

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Deste Autor:

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

Neste Assunto:

  1. Endocrinologia
  2. Mutação Genética
  3. Fenótipos
  4. Estudos De Coortes
  5. Hormônios Hipofisários

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

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