Buscar
Mostrando ítems 1-10 de 10
Clinical and molecular characterization of Chilean patients with Léri-Weill dyschondrosteosis
(2013)
Aim: L é ri-Weill dyschondrosteosis (LWD) is a mesomelic
dysplasia with disproportionate short stature associated
with short stature homeobox-containing gene (SHOX)
haploinsufficiency. The objective of this study was ...
An illustrative case of Leri-Weill dyschondrosteosis
(Soc Brasil GeneticaRibeirao PretBrasil, 2008)
Cryptic intragenic deletion of the SHOX gene in a family with Léri-Weill dyschondrosteosis detected by Multiplex Ligation-Dependent Probe Amplification (MLPA)
(Sociedade Brasileira de Endocrinologia e Metabologia, 2008)
LWD is associated to SHOX haploinsufficiency, in most cases, due to gene deletion. Generally FISH and microsatellite analysis are used to identify SHOX deletion. MLPA is a new method of detecting gene copy variation, ...
The role of the SHOX gene in the development of short stature: an overview of clinical and molecular evaluation
(Research Trends, 2016-12)
SHOX gene (short stature homeobox-containing gene) deficiency is related to a diversity of clinical conditions such as Leri-Weill dyschondrosteosis, Turner syndrome and idiopathic short stature, all characterized by growth ...
Usefulness of MLPA in the detection of SHOX deletions
(ELSEVIER SCIENCE BV, 2010)
SHOX haploinsufficiency causes a wide spectrum of short stature phenotypes, such as Leri-Weill dyschondrosteosis (LWD) and disproportionate short stature (DSS). SHOX deletions are responsible for approximately two thirds ...
Baixa estatura por haploinsuficiência do gene SHOX: do diagnóstico ao tratamento
(Sociedade Brasileira de Endocrinologia e Metabologia, 2008)
Estudos realizados em pacientes portadores de deleções parciais dos cromossomos sexuais permitiram a caracterização do SHOX, gene localizado na região pseudoautossômica no braço curto dos cromossomos sexuais, fundamental ...