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Could single-nucleotide polymorphisms (SNPs) affecting the tumour necrosis factor promoter be considered as part of rheumatoid arthritis evolution?
(ELSEVIER, 2006)
Tumour necrosis factor (TNF), a cytokine mainly produced by macrophages, is associated with a broad spectrum of biological effects, mainly associated with the host defense against microbes. The TNF gene Is located on ...
Barriers and Considerations for Diagnosing Rare Diseases in Indigenous Populations
(2020-12)
Advances in omics and specifically genomic technologies are increasingly transforming rare disease diagnosis. However, the benefits of these advances are disproportionately experienced within and between populations, with ...
Partial epilepsy with pericentral spikes: A new familial epilepsy syndrome with evidence for linkage to chromosome 4p15
(Wiley-Blackwell, 2002-06-01)
The genetic analysis of simple Mendelian epilepsies remains a key strategy in advancing our understanding of epilepsy. in this article, we describe a new family epilepsy syndrome, partial epilepsy with pericentral spikes, ...
The most recent advances in pathophysiology and management of tumour necrosis factor receptor associated periodic syndrome (TRAPS): personal experience and literature review
(Clinical & Exper Rheumatology, 2013-05-01)
Tumour necrosis factor-receptor associated periodic syndrome (TRAPS) is a rare autosomal dominant autoinflammatory disorder characterised by recurrent episodes of long-lasting fever and inflammation in different regions ...
Brain abnormalities in Williams syndrome: A review of structural and functional magnetic resonance imaging findings
(Elsevier B.V., 2009-07-01)
Williams syndrome (WS) is rare genetic form of mental retardation caused by a micro-deletion on chromosome 7q11.23 that causes cognitive impairment and a variety of physical abnormalities. MRI studies of WS have demonstrated ...
Evaluación genética y epigenética del BDNF en el trastorno del espectro autista
(UniandesMaestría en Ciencias BiológicasFacultad de CienciasDepartamento de Biología, 2018)
El Trastorno del Espectro Autista (TEA) es un conjunto de discapacidades del neurodesarrollo caracterizadas por déficits en la comunicación social y la presencia de comportamientos estereotipados y repetitivos. Por sus ...
Diagnosis of Schizophrenia in Latino Populations. A Comparison of Direct Interview and Consensus Based Multi-Source Methods
(Journal of Nervous and Mental Disease 2009;197: 530–535, 2009-07)
We determined the rates of agreement between diagnoses, using
the Diagnostic Interview for Genetic Studies (DIGS) and diagnoses arrived
at, using additional sources of information, to establish whether there are
differences ...
Farmacogenética, polimorfismos y algunas implicaciones clínicas
(2013-01-17)
Cuando se habla de farmacogenética o polimorfismos es importante buscar el eslabón que vincule la ciencia básica con la práctica clínica. Existen muchos factores que pueden mediar en la respuesta medicamentosa tales como: ...
Diagnosis of Schizophrenia in Latino Populations. A Comparison of Direct Interview and Consensus Based Multi-Source Methods
(Journal of Nervous and Mental Disease 2009;197: 530–535, 2009-07)
We determined the rates of agreement between diagnoses, using
the Diagnostic Interview for Genetic Studies (DIGS) and diagnoses arrived
at, using additional sources of information, to establish whether there are
differences ...
Estudio de asociación entre genotipo de DAT1 y transtorno por déficit de atención / hiperactividad
(Universidad del RosarioEspecialización en PsiquiatríaFacultad de Medicina, 2013)
Introduction: ADHD has a strong genetic component. The dopamine transporter gene (DAT1) has beenassociated with susceptibility to ADHD and its endophenotypes. 40pb VNTR region in the 3`UTR ofDAT1 increases its expression. ...