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1
Genotype-Phenotype Relationship in Patients and Relatives with SHOX Region Anomalies in the French Population
Genotype-Phenotype Relationship in Patients and Relatives with SHOX Region Anomalies in the French Population
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Genotype-Phenotype Relationship in Patients and Relatives with SHOX Region Anomalies in the French Population

Auger, Julie ; Baptiste, Amandine ; Benabbad, Imane ; Thierry, Gaëlle ; Costa, Jean-Marc ; Amouyal, Mélanie ; Kottler, Marie-Laure ; Leheup, Bruno ; Touraine, Renaud ; Schmitt, Sébastien ; Lebrun, Marine ; Cormier Daire, Valérie ; Bonnefont, Jean-Paul ; de Roux, Nicolas ; Elie, Caroline ; Rosilio, Myriam

Hormone research in paediatrics, 2016-01, Vol.86 (5), p.309-318 [Periódico revisado por pares]

Basel, Switzerland

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2
Adult Height of Patients with SHOX Haploinsufficiency with or without GH Therapy: A Real-World Single-Center Study
Adult Height of Patients with SHOX Haploinsufficiency with or without GH Therapy: A Real-World Single-Center Study
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Adult Height of Patients with SHOX Haploinsufficiency with or without GH Therapy: A Real-World Single-Center Study

Dantas, Naiara C.B. ; Funari, Mariana F.A. ; Vasques, Gabriela A. ; Andrade, Nathalia L.M. ; Rezende, Raíssa C. ; Brito, Vinicius ; Scalco, Renata C. ; Arnhold, Ivo J.P. ; Mendonca, Berenice B. ; Jorge, Alexander A.L.

Hormone research in paediatrics, 2022-08, Vol.95 (3), p.264-274 [Periódico revisado por pares]

Basel, Switzerland

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3
Two Patients with Severe Short Stature due to a FBN1 Mutation (p.Ala1728Val) with a Mild Form of Acromicric Dysplasia
Two Patients with Severe Short Stature due to a FBN1 Mutation (p.Ala1728Val) with a Mild Form of Acromicric Dysplasia
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Two Patients with Severe Short Stature due to a FBN1 Mutation (p.Ala1728Val) with a Mild Form of Acromicric Dysplasia

de Bruin, Christiaan ; Finlayson, Courtney ; Funari, Mariana F.A. ; Vasques, Gabriela A. ; Lucheze Freire, Bruna ; Lerario, Antonio M. ; Andrew, Melissa ; Hwa, Vivian ; Dauber, Andrew ; Jorge, Alexander A.L.

Hormone research in paediatrics, 2016-01, Vol.86 (5), p.342-348 [Periódico revisado por pares]

Basel, Switzerland

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4
Whole Exome Sequencing to Identify Genetic Causes of Short Stature
Whole Exome Sequencing to Identify Genetic Causes of Short Stature
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Whole Exome Sequencing to Identify Genetic Causes of Short Stature

Guo, Michael H. ; Shen, Yiping ; Walvoord, Emily C. ; Miller, Timothy C. ; Moon, Jennifer E. ; Hirschhorn, Joel N. ; Dauber, Andrew

Hormone research in paediatrics, 2014-01, Vol.82 (1), p.44-52 [Periódico revisado por pares]

Basel, Switzerland: S. Karger AG

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5
Growth and Clinical Characteristics of Children with Floating-Harbor Syndrome: Analysis of Current Original Data and a Review of the Literature
Growth and Clinical Characteristics of Children with Floating-Harbor Syndrome: Analysis of Current Original Data and a Review of the Literature
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Growth and Clinical Characteristics of Children with Floating-Harbor Syndrome: Analysis of Current Original Data and a Review of the Literature

Homma, Thais K. ; Freire, Bruna L. ; Honjo, Rachel ; Dauber, Andrew ; Funari, Mariana F.A. ; Lerario, Antonio M. ; Albuquerque, Edoarda V.A. ; Vasques, Gabriela A. ; Bertola, Debora R. ; Kim, Chong A. ; Malaquias, Alexsandra C. ; Jorge, Alexander A.L.

Hormone research in paediatrics, 2020-01, Vol.92 (2), p.115-123 [Periódico revisado por pares]

Basel, Switzerland

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6
Recurrent Copy Number Variants Associated with Syndromic Short Stature of Unknown Cause
Recurrent Copy Number Variants Associated with Syndromic Short Stature of Unknown Cause
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Recurrent Copy Number Variants Associated with Syndromic Short Stature of Unknown Cause

Homma, Thais K. ; Krepischi, Ana C.V. ; Furuya, Tatiane K. ; Honjo, Rachel S. ; Malaquias, Alexsandra C. ; Bertola, Debora R. ; Costa, Silvia S. ; Canton, Ana P. ; Roela, Rosimeire A. ; Freire, Bruna L. ; Kim, Chong A. ; Rosenberg, Carla ; Jorge, Alexander A.L.

Hormone research in paediatrics, 2018-01, Vol.89 (1), p.13-21 [Periódico revisado por pares]

Basel, Switzerland

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7
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.

8
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)

9
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
Material Type:
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

Malaquias, Alexsandra C. ; Scalco, Renata C. ; Fontenele, Eveline G.P. ; Costalonga, Everlayny F. ; Baldin, Alexandre D. ; Braz, Adriana F. ; Funari, Mariana F.A. ; Nishi, Mirian Y. ; Guerra-Junior, Gil ; Mendonca, Berenice B. ; Arnhold, Ivo J.P. ; Jorge, Alexander A.L.

Hormone research in paediatrics, 2013-01, Vol.80 (6), p.449-456 [Periódico revisado por pares]

Basel, Switzerland: S. Karger AG

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10
Impact of Growth Hormone Therapy on Adult Height in Patients with PTPN11 Mutations Related to Noonan Syndrome
Impact of Growth Hormone Therapy on Adult Height in Patients with PTPN11 Mutations Related to Noonan Syndrome
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Impact of Growth Hormone Therapy on Adult Height in Patients with PTPN11 Mutations Related to Noonan Syndrome

Malaquias, Alexsandra C. ; Noronha, Renata M. ; Souza, Thaiana T.O. ; Homma, Thais K. ; Funari, Mariana F.A. ; Yamamoto, Guilherme L. ; Silva, Fernanda Viana ; Moraes, Michelle B. ; Honjo, Rachel S. ; Kim, Chong A. ; Nesi-França, Suzana ; Carvalho, Julienne A.R. ; Quedas, Elisangela P.S. ; Bertola, Debora R. ; Jorge, Alexander A.L.

Hormone research in paediatrics, 2019-01, Vol.91 (4), p.252-261 [Periódico revisado por pares]

Basel, Switzerland

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Deste Autor:

  1. Jorge, A
  2. Arnhold, I
  3. Fontenele, E
  4. Malaquias, A
  5. Nishi, M

Neste Assunto:

  1. Life Sciences & Biomedicine
  2. Pediatrics
  3. Science & Technology
  4. Endocrinology & Metabolism
  5. Female

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

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