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Genomic imprinting and human chromosome 15
(SOCIEDAD BIOLGIA CHILE, 2001)
Genomic imprinting is a reversible phenomenon that affects the expression of genes depending on their parental origin, The best characterized human disorders resulting from an alteration Of the imprinting process are ...
A expressão neurológica e o diagnóstico genético nas síndromes de Angelman, de Rett e do X-Frágil
(Sociedade Brasileira de Pediatria, 2002-08-01)
Objective: to discuss clinical and electroencephalographic aspects and the genetic mechanisms of three neurogenic syndromes that can be related to nosologic entities in the heterogenic pathological group presenting symptoms ...
Clinical, genetic and molecular features in 45 patients with Prader-Willi syndrome
(SOC MEDICA SANTIAGO, 2005)
Background: Prader-Willi syndrome (PWS) is a neurogenetic disease characterized by neonatal hypotonia, retarded mental and motor development, hypogonadism, hyperpbagia, morbid obesity and dysmorphic facial features. It has ...
Análisis de variación del número de copias y de patrones de metilación en la región 15q11-q13Variation analysis of the number of copies and methylene patterns in region 15q11-q13
(Medicina (Buenos Aires), 2018-02)
La región q11-q13 del cromosoma 15 humano es proclive a sufrir alteraciones genéticas. Algunos genes de la región presentan expresión parental diferencial monoalélica, regulada por imprinting (EI). Errores en la regulación ...
Deletion of the RMGA and CHD2 genes in a child with epilepsy and mental deficiency
(ELSEVIER SCIENCE BVAMSTERDAM, 2012)
We describe a novel chromosome microdeletion at 15q26.1 detected by oligo-array-CGH in a 6-year-old girl presenting with global development delay, epilepsy, autistic behavior and facial dysmorphisms. Although these features ...
1031-1034delTAAC (Leu125Stop): a novel familial UBE3A mutation causing Angelman syndrome in two siblings showing distinct phenotypes
(BioMed CentralLondon, 2012)
Background
More than 50 mutations in the UBE3A gene (E6-AP ubiquitin protein ligase gene) have been found in Angelman syndrome patients with no deletion, no uniparental disomy, and no imprinting defect.
Case Presentation
We ...
1031-1034delTAAC (Leu125Stop): a novel familial UBE3A mutation causing Angelman syndrome in two siblings showing distinct phenotypes
(2012-12-20)
Abstract
Background
More than 50 mutations in the UBE3A gene (E6-AP ubiquitin protein ligase gene) have been found in Angelman syndrome patients with no deletion, no uniparental ...
1031-1034delTAAC (Leu125Stop): a novel familial UBE3A mutation causing Angelman syndrome in two siblings showing distinct phenotypes
(2012-12-20)
Abstract
Background
More than 50 mutations in the UBE3A gene (E6-AP ubiquitin protein ligase gene) have been found in Angelman syndrome patients with no deletion, no uniparental ...
Angelman syndrome and thyroid dysfunction
(2012)
Angelman syndrome (AS) is a neurogenetic syndrome, has a prevalence of 1:10,000 to 1:40,000. Patients with AS have genetic alterations in maternal imprinting gene UB3A (15q11-q13) and molecular evaluations confirm the ...