Williams Syndrome Genetics
Mostrando 1-5 de 5 artigos, teses e dissertações.
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1. Prevalence of scoliosis in Williams-Beuren syndrome patients treated at a regional reference center
OBJECTIVE:This study assessed the prevalence of scoliosis and the patterns of scoliotic curves in patients with Williams-Beuren syndrome. Williams-Beuren syndrome is caused by a chromosome 7q11.23 deletion in a region containing 28 genes, with the gene encoding elastin situated approximately at the midpoint of the deletion. Mutation of the elastin gene leads
Clinics. Publicado em: 2014-07
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2. Análise de polimorfismos do gene da fibrilina-1 em indivíduos portadores de hérnia inguinal através do seqüenciamento de DNA / Polymorphisms analysis of the fibrillin-1 gene in individuals with inguinal hernia by DNA sequencing
The inguinal hernia is a multifactorial disease that emerge from the Fruchaud orifice, closed only by the transversalis fascia. Lately it has been showed that disorders on the connective tissue elements, as the collagen and elastic fibers, are related to the inguinal hernia genesis. Previous studies have showed structural and quantitative changes of the elas
Publicado em: 2007
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3. Estudo de marcadores polimórficos da região 7q11.23 para o diagnóstico da síndrome de Williams-Beuren / Williams-Beuren syndrome: molecular diagnoses using polimorphic markers to 7q11.23 region
INTRODUÇÃO: A síndrome de Williams-Beuren (SWB) resulta de uma deleção de aproximadamente 1.5 Mb na região 7q11.23. A haploinsuficiência ocasiona alterações do desenvolvimento neurológico assim como malformações em múltiplos sistemas. OBJETIVOS: Testar utilidade de marcadores polimórficos para o diagnóstico da síndrome, determinar a proporç�
Publicado em: 2006
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4. Medical genetics: advances in brief: Hemizygosity at the elastin locus in a developmental disorder, Williams syndrome
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5. Medical genetics: advances in brief: Strong correlation of elastin deletions, detected by FISH, with Williams syndrome: evaluation of 235 patients