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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
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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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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Artigo 		Adicionar ao Meu Espaço

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

Neste Assunto:

  1. Deleção De Genes
  2. Genes (Análise)
  3. Gonadotrofinas
  4. Endocrinopatias
  5. Fenótipos

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

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