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1
Heterozygous FGFR1 gene deletion detected by MLPA in a woman with isolated hypogonadotropic hypogonadism
Heterozygous FGFR1 gene deletion detected by MLPA in a woman with isolated hypogonadotropic hypogonadism
Material Type:
Artigo de Congresso 		Adicionar ao Meu Espaço

Heterozygous FGFR1 gene deletion detected by MLPA in a woman with isolated hypogonadotropic hypogonadism

M. G. Teles E. B Trarbach; E. M. F Costa; A. P Abreu; B. B Mendonça; Ana Claudia X Latronico; International Congress of Endocrinology 2008 (13. Rio de Janeiro)

Arquivos Brasileiros de Endocrinologia e Metabologia São Paulo v. 52, supl. 6, parte II, p. S793, res. OP-094, 2008

São Paulo 2008

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

2
Hemizygous deletion of FGFR1 gene identified in a patient with congenital normosmic isolated hypogonadotropic hypogonadism by ligation-dependent probe amplification analysis
Hemizygous deletion of FGFR1 gene identified in a patient with congenital normosmic isolated hypogonadotropic hypogonadism by ligation-dependent probe amplification analysis
Material Type:
Artigo de Congresso 		Adicionar ao Meu Espaço

Hemizygous deletion of FGFR1 gene identified in a patient with congenital normosmic isolated hypogonadotropic hypogonadism by ligation-dependent probe amplification analysis

M. G. Teles E. B Trarbach; E. M. F Costa; A. P Abreu; G Guerra Júnior; M. T. M Batista; Margaret de Castro; Berenice Bilharinho de Mendonça; Annual Meeting of the Endocrine Society (90. 2008 San Francisco)

Program and Abstracts Book San Francisco, 2008

San Francisco 2008

Localização: FMRP - Fac. Medicina de Ribeirão Preto    (pcd 1682883 ) e outros locais(Acessar)

3
Identification of the first homozygous 1-bp deletion in GDF9 gene leading to primary ovarian insufficiency by using targeted massively parallel sequencing
Identification of the first homozygous 1-bp deletion in GDF9 gene leading to primary ovarian insufficiency by using targeted massively parallel sequencing
Material Type:
Artigo 		Adicionar ao Meu Espaço

Identification of the first homozygous 1-bp deletion in GDF9 gene leading to primary ovarian insufficiency by using targeted massively parallel sequencing

M. M. Franca M. F. A Funari; M. Y Nishi; A. M Narcizo; S Domenice; E. M. F Costa; A. M Lerario; Berenice Bilharinho de Mendonça

Clinical genetics v. 93, n. 2, p. 408-411, 2018

Hoboken 2018

Localização: FM - Fac. Medicina    (OPI 25504 2018 )(Acessar)

4
Complete deletion of the PROP1 gene in two sibling with combined pituitary hormone deficiency (CPHD)
Complete deletion of the PROP1 gene in two sibling with combined pituitary hormone deficiency (CPHD)
Material Type:
Artigo de Congresso 		Adicionar ao Meu Espaço

Complete deletion of the PROP1 gene in two sibling with combined pituitary hormone deficiency (CPHD)

M. G. Abrao L Carvalho; M. V Leite; M Nishi; A Barbosa; I. J. P Arnhold; B. B Mendonça; Annual Meeting of the Sociedad Latinoamericana de Endocrinologia Pediátrica (SLEP) (17. 2004 Angra dos Reis)

Journal of pediatric endocrinology and metabolism London v. 17, n. suppl.5, p. 1345, res. Poster 1, 2004

London 2004

Localização: FM - Fac. Medicina    (BCSEP 355 2004 ) e outros locais(Acessar)

5
Contiguous Gene Syndrome Caused by an Interstitial Deletion in the Short Arm of X-chromosome Diagnosed by MLPA
Contiguous Gene Syndrome Caused by an Interstitial Deletion in the Short Arm of X-chromosome Diagnosed by MLPA
Material Type:
Artigo de Congresso 		Adicionar ao Meu Espaço

Contiguous Gene Syndrome Caused by an Interstitial Deletion in the Short Arm of X-chromosome Diagnosed by MLPA

B. B. Alves L. F. G Silveira; M Teles; M. Y Nishi; M. F. A Funari; B. B Mendonça; 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. 21, res. 60, 2010

Basel 2010

Acesso online. A biblioteca também possui exemplares impressos.

6
A novel homozygous 1-bp deletion in the NOBOX gene in two Brazilian sisters with primary ovarian failure
A novel homozygous 1-bp deletion in the NOBOX gene in two Brazilian sisters with primary ovarian failure
Material Type:
Artigo 		Adicionar ao Meu Espaço

A novel homozygous 1-bp deletion in the NOBOX gene in two Brazilian sisters with primary ovarian failure

Monica M. Franca Mariana F. A Funari; Antonio M Lerario; Mirian Y Nishi; Carmen C Pita; Eveline G. P Fontenele; Berenice Bilharinho de Mendonça

Endocrine v. 58, n. 3, p. 442-447, 2017

New York 2017

Localização: FM - Fac. Medicina    (OPI 24178 2017 )(Acessar)

7
Uso de marcação não radiativa para identificação de grandes rearranjos gênicos na deficiência da 21-hidroxilase; Use of nonradioactive labeling to detect large gene rearrangements in 21-hydroxylase deficiency
Uso de marcação não radiativa para identificação de grandes rearranjos gênicos na deficiência da 21-hidroxilase; Use of nonradioactive labeling to detect large gene rearrangements in 21-hydroxylase deficiency
Material Type:
Artigo 		Adicionar ao Meu Espaço

Uso de marcação não radiativa para identificação de grandes rearranjos gênicos na deficiência da 21-hidroxilase; Use of nonradioactive labeling to detect large gene rearrangements in 21-hydroxylase deficiency

Cukier, Priscilla; Bachega, Tânia A. S. S.; Mendonça, Berenice B.; Billerbeck, Ana Elisa C.

Revista do Hospital das Clínicas; v. 59 n. 6 (2004); 369-374

Universidade de São Paulo. Faculdade de Medicina 2004-01-01

Acesso online

8
Absense of inactivating mutations and deletions of DAX1 gene in SRY negative 46,XX sex-reversed patients
Absense of inactivating mutations and deletions of DAX1 gene in SRY negative 46,XX sex-reversed patients
Material Type:
Artigo de Congresso 		Adicionar ao Meu Espaço

Absense of inactivating mutations and deletions of DAX1 gene in SRY negative 46,XX sex-reversed patients

Sorahia Domenice Rafaela V Correa; Elaine M. F Costa; Karla F. S Melo; Mirian Y Nishi; Ivo J. P Arnhold; Berenice Bilharinho de Mendonça; ENDO - The Endocrine Society's Annual Meeting (85. 2003 Philadelphia)

Resumos Philadelphia p. 241, res. P1-460, 2003

Philadelphia 2003

Localização: FM - Fac. Medicina    (BCSEP 2003 198 ) e outros locais(Acessar)

9
Lack of reduction in body fat after treatment with insulin-like growth factor-I in two children with growth hormone gene deletions
Lack of reduction in body fat after treatment with insulin-like growth factor-I in two children with growth hormone gene deletions
Material Type:
Artigo 		Adicionar ao Meu Espaço

Lack of reduction in body fat after treatment with insulin-like growth factor-I in two children with growth hormone gene deletions

I. J. Arnhold S. B Oliveira; M G Osorio; A J F Carrilho; Wilian Nicolau; Antônio Carlos Bianco; B. B Mendonça

Journal of Endocrinological Investigation v. 23, p. 258-262, 2000

2000

Item não circula. Consulte sua biblioteca.(Acessar)

10
Identification of SHOX gene deletions in patients with disproportional short stature or Léri-Weill dyschondrosteosis comparison between the fish technique and microsatellite study
Identification of SHOX gene deletions in patients with disproportional short stature or Léri-Weill dyschondrosteosis comparison between the fish technique and microsatellite study
Material Type:
Artigo 		Adicionar ao Meu Espaço

Identification of SHOX gene deletions in patients with disproportional short stature or Léri-Weill dyschondrosteosis comparison between the fish technique and microsatellite study

M. Funari A Jorge; S Souza; Berenice Bilharinho de Mendonça; M Nishi; Annual meeting of the sociedad latino-americana de endocrinología pediátrica - SLEP (19. Mar del Plata, Argentina 2007)

Hormone research Basel v. 68, suppl. 4, p. 11, res. 29, 2007

Basel 2007

Localização: FM - Fac. Medicina    (BCSEP 161 2007 )(Acessar)

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Deste Autor:

  1. Mendonça, B
  2. Nishi, M
  3. Costa, E
  4. Arnhold, I
  5. Funari, M

Neste Assunto:

  1. Mutação Genética
  2. Doenças Genéticas
  3. Deleção De Genes
  4. Fisiologia
  5. Brasileiros

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

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