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1
Baixa Estatura por Haploinsuficiência do Gene SHOX do Diagnóstico ao Tratamento
Baixa Estatura por Haploinsuficiência do Gene SHOX do Diagnóstico ao Tratamento
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Artigo 		Adicionar ao Meu Espaço

Baixa Estatura por Haploinsuficiência do Gene SHOX do Diagnóstico ao Tratamento

Alexander A. L. Jorge Mirian Y Nishi; Mariana F. A Funari; Silvia C Souza; Ivo J. P Arnhold; Berenice B Mendonça

Arquivos Brasileiros de Endocrinologia e Metabologia São Paulo v. 52, n. 5, p. 765-773, 2008

São Paulo 2008

Localização: FM - Fac. Medicina    (BCSEP 126 2008 )(Acessar)

2
Intragenic delection of the shox gene in a family with Léri-Well dyschondrosteosis detected by multiplex ligation-dependent probe amplification (MLPA)
Intragenic delection of the shox gene in a family with Léri-Well dyschondrosteosis detected by multiplex ligation-dependent probe amplification (MLPA)
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Artigo de Congresso 		Adicionar ao Meu Espaço

Intragenic delection of the shox gene in a family with Léri-Well dyschondrosteosis detected by multiplex ligation-dependent probe amplification (MLPA)

M. F. A. Funari A. A. L Jorge; I. J. P Arnhold; E. M Pinto; B. B Mendonça Nishi. M. Y.; International Congress of Endocrinology 2008 (13. Rio de Janeiro)

Arquivos Brasileiros de Endocrinologia e Metabologia São Paulo v. 52, supl. 6, parte II, p. S794, res. OP-097, 2008

São Paulo 2008

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

3
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
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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)

4
Effectveness of the combined recombinant human growth hormone and gonadotropin-releaseng hormone analog therapy in pubertal patients with short stature due to SHOX deficiency
Effectveness of the combined recombinant human growth hormone and gonadotropin-releaseng hormone analog therapy in pubertal patients with short stature due to SHOX deficiency
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Artigo 		Adicionar ao Meu Espaço

Effectveness of the combined recombinant human growth hormone and gonadotropin-releaseng hormone analog therapy in pubertal patients with short stature due to SHOX deficiency

Renata C Scalco Suzana S. J Melo; Patricia N. Pugliese Pires; Mariana F. A Funari; Mirian Y Nishi; Ivo J. P Arnhold; Berenice Bilharinho de Mendonça; Alexander A. L Jorge

The journal and clinical endocrinology and metabolism Springfield v. 95, n. 1, p. 328-332, 2010

Springfield 2010

Emprestado de FM - Fac. Medicina    (BCSEP 004 2010 )(Acessar)

5
Effectveness of the combined recombinant human growth hormone and gonadotropin-releaseng hormone analog therapy in pubertal patients with short stature due to SHOX deficiency
Effectveness of the combined recombinant human growth hormone and gonadotropin-releaseng hormone analog therapy in pubertal patients with short stature due to SHOX deficiency
Material Type:
Artigo 		Adicionar ao Meu Espaço

Effectveness of the combined recombinant human growth hormone and gonadotropin-releaseng hormone analog therapy in pubertal patients with short stature due to SHOX deficiency

Renata C Scalco Suzana S. J Melo; Patricia N. Pugliese Pires; Mariana F. A Funari; Mirian Y Nishi; Ivo J. P Arnhold; Berenice Bilharinho de Mendonça; Alexander A. L Jorge

The journal and clinical endocrinology and metabolism Springfield v. 95, n. 1, p. 328-332, 2010

Springfield 2010

Emprestado de FM - Fac. Medicina    (BCSEP 004 2010 )(Acessar)

6
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)

7
Genetic diagnosis of congenital hypopituitarism by a target gene panel novel pathogenic variants in GLI2, OTX2 and GHRHR
Genetic diagnosis of congenital hypopituitarism by a target gene panel novel pathogenic variants in GLI2, OTX2 and GHRHR
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Genetic diagnosis of congenital hypopituitarism by a target gene panel novel pathogenic variants in GLI2, OTX2 and GHRHR

Marilena Nakaguma Fernanda A Correa; Lucas S Santana; Anna F. F Benedetti; Ricardo Perez V; Martha K. P Huayllas; Mirta B Miras; Mariana F. A Funari; Antonio M Lerario; Berenice Bilharinho de Mendonça; Alexander Augusto de Lima Jorge

Endocrine connections v. 8, n. 5, p. 590-595, 2019

Bristol 2019

Acesso online. A biblioteca também possui exemplares impressos.

8
Exome sequencing reveals the POLR3H gene as a novel cause of primary ovarian insufficiency
Exome sequencing reveals the POLR3H gene as a novel cause of primary ovarian insufficiency
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Exome sequencing reveals the POLR3H gene as a novel cause of primary ovarian insufficiency

Monica M Franca Xingfa Han; Mariana F. A Funari; Antonio M Lerario; Mirian Y Nishi; Eveline G. P Fontenele; Sorahia Domenice; Alexander Augusto de Lima Jorge; David Garcia-galiano; Berenice Bilharinho de Mendonça

Journal of clinical endocrinology & metabolism v. 104, n. 7, p. 2827-2841, 2019

Washington 2019

Acesso online. A biblioteca também possui exemplares impressos.

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Deste Autor:

  1. Mendonça, B
  2. Funari, M
  3. Jorge, A
  4. Nishi, M
  5. Arnhold, I

Neste Assunto:

  1. Puberdade
  2. Pesos E Medidas Corporais
  3. Genes (Análise)
  4. Gonadotrofinas
  5. Hormônio Do Crescimento (Deficiência)

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

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