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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
Cryptic intragenic deletion of the SHOX gene in a family with Léri-Weill dyschondrosteosis detected by Multiplex Ligation-Dependent Probe Amplification (MLPA)
Cryptic intragenic deletion of the SHOX gene in a family with Léri-Weill dyschondrosteosis detected by Multiplex Ligation-Dependent Probe Amplification (MLPA)
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Cryptic intragenic deletion of the SHOX gene in a family with Léri-Weill dyschondrosteosis detected by Multiplex Ligation-Dependent Probe Amplification (MLPA)

Mariana F. A. Funari Alexander A. L Jorge; Emilia M Pinto; Ivo J. P Arnhold; Berenice B Mendonca; Mirian Y Nishi

Arquivos Brasileiros de Endocrinologia e Metabologia São Paulo v. 52, n. 8, p. 1382-1387, 2008

São Paulo 2008

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

3
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)

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
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)

5
The Sitting Height/Height Ratio for Age in Healthy and Short Individuals and Its Potential Role in Selecting Short Children for SHOX Analysis
The Sitting Height/Height Ratio for Age in Healthy and Short Individuals and Its Potential Role in Selecting Short Children for SHOX Analysis
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The Sitting Height/Height Ratio for Age in Healthy and Short Individuals and Its Potential Role in Selecting Short Children for SHOX Analysis

A. C. Malaquias R. C Scalco; E. G. P Fontenele; E. F Costalonga; A. D Baldin; A. F Braz; M. F. A Funari; M. Y Nishi; G Guerra-Junior; B. B Mendonca; I. J. P Arnhold; A. A. L Jorge

Hormone Research in Paediatrics Basel v. 80, n. 6 p. 449-456, 2013

Basel 2013

Acesso online. A biblioteca também possui exemplares impressos.

6
Heterozygous Mutations in Natriuretic Peptide Receptor-B (NPR2) Gene as a Cause of Short Stature in Patients Initially Classified as Idiopathic Short Stature
Heterozygous Mutations in Natriuretic Peptide Receptor-B (NPR2) Gene as a Cause of Short Stature in Patients Initially Classified as Idiopathic Short Stature
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Heterozygous Mutations in Natriuretic Peptide Receptor-B (NPR2) Gene as a Cause of Short Stature in Patients Initially Classified as Idiopathic Short Stature

Gabriela A. Vasques Naoko Amano ADocko, na J.; Mariana F. A Funari; Elisangela P. S Quedas; Mirian Y Nishi; Ivo J. P Arnhold; Tomonobu Hasegawa; Alexander A. L Jorge

The Journal of Clinical Endocrinology & Metabolism Springfield v. 98, n. 10, p. E1636-E1644, 2013

Springfield 2013

Localização: FM - Fac. Medicina    (BCSEP 054 2013 )(Acessar)

7
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)

8
Usefulness of MLPA in the detection of SHOX deletions
Usefulness of MLPA in the detection of SHOX deletions
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Usefulness of MLPA in the detection of SHOX deletions

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

European Journal of Medical Genetics v. 53, n. 5, p. 234-238, 2010

Paris 2010

Localização: FM - Fac. Medicina    (BCSEP 282 2010 )(Acessar)

9
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)

10
Multigene sequencing analysis of children born small for gestational age with isolated short stature
Multigene sequencing analysis of children born small for gestational age with isolated short stature
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Multigene sequencing analysis of children born small for gestational age with isolated short stature

Bruna L Freire Thais K Homma; Mariana F. A Funari; Antonio M Lerario; Gabriela A Vasques; Alexsandra C Malaquias; Ivo J. P Arnhold; Alexander Augusto de Lima Jorge

Journal of clinical endocrinology & metabolism v. 104, n. 6, p. 2023-2030, 2019

Washington 2019

Acesso online. A biblioteca também possui exemplares impressos.

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Deste Autor:

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

Neste Assunto:

  1. Genes (Análise)
  2. Deleção De Genes
  3. Fenótipos
  4. Puberdade
  5. Sequenciamento Genético

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

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