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Genotype-phenotype correlation in Brazillian Rett syndrome patients
(Academia Brasileira de Neurologia - ABNEURO, 2009-09-01)
BACKGROUND: Rett syndrome (RS) is a severe neurodevelopmental X-linked dominant disorder caused by mutations in the MECP2 gene. PURPOSE: To search for point mutations on the MECP2 gene and to establish a correlation between ...
Genotype-phenotype correlation in Brazillian Rett syndrome patients
(Academia Brasileira de Neurologia - ABNEURO, 2009)
BACKGROUND: Rett syndrome (RS) is a severe neurodevelopmental X-linked dominant disorder caused by mutations in the MECP2 gene. PURPOSE: To search for point mutations on the MECP2 gene and to establish a correlation between ...
Quantification of functional abilities in Rett syndrome: a comparison between stages III and IV
(Dove Medical Press Ltd, 2014)
Quantification of functional abilities in Rett syndrome: a comparison between stages III and IV
(Dove Medical Press Ltd, 2014)
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 ...
Animal models of intellectual disability: towards a translational approach
(Faculdade de Medicina / USP, 2011-01-01)
Intellectual disability is a prevalent form of cognitive impairment, affecting 2-3% of the general population. It is a daunting societal problem characterized by significant limitations both in intellectual functioning and ...
The pathophysiology of rett syndrome with a focus on breathing dysfunctions
(2020-11-01)
Rett syndrome (RTT), an X-chromosome-linked neurological disorder, is characterized by serious pathophysiology, including breathing and feeding dysfunctions, and alteration of cardiorespiratory coupling, a consequence of ...
Writers and Readers of DNA Methylation/Hydroxymethylation in Physiological Aging and Its Impact on Cognitive Function
(Facultad de Medicina y CienciaCentro de Biología Celular y Biomedicina CEBICEM, 2019)
The chromatin landscape has acquired deep attention from several fields ranging from cell biology to neurological and psychiatric diseases. The role that DNA modifications have on gene expression regulation has become ...
Molecular and Cytogenetic Analyses on Brazilian Youths with Pervasive Developmental Disorders
(2002-02-01)
The Pervasive Developmental Disorders (PDDs) constitute a group of behavioral and neurobiological impairment conditions whose main features are delayed communicative and cognitive development. Genetic factors are reportedly ...