• JoomlaWorks Simple Image Rotator
  • JoomlaWorks Simple Image Rotator
  • JoomlaWorks Simple Image Rotator
  • JoomlaWorks Simple Image Rotator
  • JoomlaWorks Simple Image Rotator
  • JoomlaWorks Simple Image Rotator
  • JoomlaWorks Simple Image Rotator
  • JoomlaWorks Simple Image Rotator
  • JoomlaWorks Simple Image Rotator
  • JoomlaWorks Simple Image Rotator
 
  Bookmark and Share
 
 
Doctoral Thesis
DOI
10.11606/T.5.2005.tde-02092005-100524
Document
Author
Full name
Lize Vargas Ferreira
Institute/School/College
Knowledge Area
Date of Defense
Published
São Paulo, 2005
Supervisor
Committee
Jorge, Alexander Augusto de Lima (President)
Bloise, Walter
Boguszewski, Margaret Cristina da Silva
Monte, Osmar
Vieira, Teresa Cristina Alfinito
Title in Portuguese
"Estudo do gene PTPN11 em pacientes com a síndrome de Noonan e crianças com baixa estatura idiopática"
Keywords in Portuguese
CRIANÇA
ESTATURA/genética
FOSFATASE PROTEÍNA-TIROSINA/genética
HORMÔNIO DO CRESCIMENTO/uso terapêutico
SÍNDROME DE NOONAN/etiologia
SÍNDROME DE NOONAN/genética
Abstract in Portuguese
A síndrome de Noonan (SN), caracterizada por baixa estatura, aspectos dismórficos e cardiopatia congênita, foi associada ao gene PTPN11. Estudamos o PTPN11 em pacientes com SN, pais de portadores de mutação e crianças com baixa estatura idiopática (BEI) que apresentam estigmas sugestivos da SN, sem critérios suficientes para o diagnóstico. Encontramos mutações missense em heterozigoze no PTPN11 em 42,3% dos pacientes com SN. Não identificamos alterações nos pais de portadores de mutação no PTPN11 com fenótipo normal tampouco em crianças com BEI. A única diferença estatisticamente significante entre os grupos com e sem mutação foi a resposta em longo prazo ao hGH, melhor no grupo sem mutação
Title in English
Study of the PTPN11 gene in Noonan syndrome patients and children with idiopathic short stature
Keywords in English
BODY HEIGHT/genetics
CHILD
GROWTH HORMONE/therapeutic use
NOONAN SYNDROME/etiology
NOONAN SYNDROME/genetics
PROTEIN-TYROSINE-PHOSPHATASE/genetics
Abstract in English
Noonan syndrome (NS), characterized by short stature, dysmorphic facial and thoracic features and congenital heart disease, was associated to PTPN11 gene. We studied the PTPN11 in patients with NS, parents of mutation-positive NS patients and idiopathic short stature children with signs related to NS without fulfilling the diagnostic criteria. We found missense mutations in 42.3% of the NS group. Parents of NS mutation-positive patients did not present mutations, nor did children with short stature. The only statistically significant difference between groups with and without mutations was response to long term use of hGH, better on the mutation-negative group
 
WARNING - Viewing this document is conditioned on your acceptance of the following terms of use:
This document is only for private use for research and teaching activities. Reproduction for commercial use is forbidden. This rights cover the whole data about this document as well as its contents. Any uses or copies of this document in whole or in part must include the author's name.
Publishing Date
2005-10-07
 
WARNING: The material described below relates to works resulting from this thesis or dissertation. The contents of these works are the author's responsibility.
  • FERREIRA, L. V., et al. Analysis of the PTPN11 gene in idiopathic short stature children and Noonan syndrome patients [doi:10.1111/j.1365-2265.2008.03234.x]. Clinical Endocrinology (Oxford) [online], 2008, vol. 69, p. 426-431.
  • FERREIRA, L. V., et al. PTPN11 mutations and response to growth hormone therapy in children with Noonan Syndrome [doi:10.1210/jc.2004-2559]. The Journal of Clinical Endocrinology and Metabolism [online], 2005, vol. 90, nº 9, p. 5156-5160.
  • FERREIRA, L. V., et al. Variabilidade do fenótipo de pacientes com síndrome de Noonan com e sem mutações no gene PTPN11 [doi:10.1590/S0004-27302007000300014]. Arquivos Brasileiros de Endocrinologia & Metabologia [online], 2007, vol. 51, p. 450-456.
  • MALAQUIAS, A. C., et al. Síndrome de Noonan: do fenótipo à Terapêutica com Hormônio de Crescimento [doi:10.1590/S0004-27302008000500012]. Arquivos Brasileiros de Endocrinologia e Metabologia [online], 2008, vol. 52, p. 800-808.
All rights of the thesis/dissertation are from the authors
Centro de Informática de São Carlos
Digital Library of Theses and Dissertations of USP. Copyright © 2001-2020. All rights reserved.