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Pesquisa de síndromes de microdeleção em pacientes com deficiência intelectual por meio da técnica de MLPA - Amplificação de Múltiplas Sondas Dependentes de Ligação
(Universidade Federal de São CarlosBRUFSCarPrograma de Pós-Graduação em Biotecnologia - PPGBiotec, 2012-09-21)
Intellectual disability (ID) is manifest sign of more than 2,000 different clinical conditions and is present in 5% of the population. Because it is a heterogeneous group of clinical conditions, with different causal factors ...
Detección de pérdidas o ganancias genómicas en pacientes con anomalías congénitas múltiples y/o discapacidad intelectual evaluadas mediante el uso combinado de kits amplificación de sondas dependientes de ligandos múltiplex (MLPA)
(Biblioteca Digital wdg.biblioUniversidad de Guadalajara, 2016-01-01)
Uso do MLPA para diagnóstico de pacientes com deficiência intelectual e/ou atraso do desenvolvimento sindrômicos
(Universidade Federal de Minas GeraisUFMG, 2016-07-20)
The prevalence of intellectual disability (ID) in general population is estimated to be between 1% to 3%. It is often associated with global developmental delay (GDD) and others important features as congenital malformations ...
Análise citogenômica pela técnica de MLPA (Multiplex Ligation Probe Amplification) em amostras parafinadas de abortamento
(Universidade Federal de São Paulo, 2021-05-25)
Objetivo: Realizar a análise citogenômica pela técnica de MLPA (do inglês Multiplex Ligation Probe Amplification) em blocos de parafina obtidos a partir de material de abortamento espontâneo encaminhadas para exame ...
Detection of a Williams Beuren syndrome case by MLPA.
(Medicina (Buenos Aires), 2013-02)
El síndrome de Williams-Beuren (WBS) es un trastorno del desarrollo neurológico que incluye diferentes manifestaciones clínicas como estenosis aórtica supravalvular, lesiones cerebrovasculares, retraso en el crecimiento, ...
Uso de la técnica MLPA para la detección de rearreglos subteloméricos en pacientes con discapacidad intelectual idiopática en Colombia
(Universidad Militar Nueva GranadaFacultad de MedicinaPrograma de Neurología Pediátrica, 2013-09-15)
Este es un estudio descriptivo de corte transversal, donde el objetivo fue determinar la prevalencia, origen y caracterización de los rearreglos subteloméricos por medio de la técnica MLPA en un grupo de pacientes colombianos ...
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 ...
Neurofibromatosis type 1: Splicing mutation detected by MLPA and DNA sequencing in ArgentinaNeurofibromatosis type 1: Splicing mutation detected by MLPA and DNA sequencing in Argentina
(Medicina (Buenos Aires), 2015-03)
La neurofibromatosis tipo 1 (NF1) es un desorden genético autosómico dominante, con una prevalenciade 1 en 2500-3000 nacidos vivos. La dificultad diagnóstica se debe al tamaño extenso delgen NF1 con pocos sitios hot-spot, ...
MLPA analysis of an Argentine cohort of patients with dystrophinopathy: Association of intron breakpoints hot spots with STR abundance in DMD gene
(Elsevier Science, 2016-06)
Dystrophinopathies are X-linked recessive diseases caused by mutations in the DMD gene. Our objective was to identify mutations in this gene by Multiplex Ligation Probe Amplification (MLPA), to confirm the clinical diagnosis ...
Identification of genetic alterations by multiple ligation-dependent probe amplification (MLPA) analysis in oligodendrogliomas
(SOC ESPANOLA NEUROCIRUGIA, 2009)
Concurrent deletion at 1p/19q is a common signature of oligodendrogliomas, and it may, be identified in low-grade tumours (grade II) suggesting it represents an early event in the development of these brain neoplasms. ...