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Mostrando ítems 51-60 de 108
Nuclear DNA content in 20 species of Siluriformes (Teleostei: Ostariophysi) from the Neotropical region
(Sociedade Brasileira de Genética, 2014)
Estudo clínico e citogenético-molecular de pacientes portadores de cromossomos autossômicos em anel
(Universidade Federal de São Paulo (UNIFESP), 2010-07-28)
Ring chromosomes usually result from breaks in their short and long arms followed by fusion of both ends causing genetic material loss. Nowadays with more sensible molecular techniques it is possible to better define the ...
Rare Genome-Wide Copy Number Variation and Expression of Schizophrenia in 22q11.2 Deletion Syndrome
(American Psychiatric Association, 2017)
OBJECTIVE:
Chromosome 22q11.2 deletion syndrome (22q11.2DS) is associated with a more than 20-fold increased risk for developing schizophrenia. The aim of this study was to identify additional genetic factors (i.e., "second ...
Rare Genome-Wide Copy Number Variation and Expression of Schizophrenia in 22q11.2 Deletion Syndrome
(American Psychiatric Association, 2017)
OBJECTIVE:
Chromosome 22q11.2 deletion syndrome (22q11.2DS) is associated with a more than 20-fold increased risk for developing schizophrenia. The aim of this study was to identify additional genetic factors (i.e., "second ...
Estimativa da frequência da inversão SWBinv-1 entre pais de portadores ds síndrome de Williams-Beuren e pais de filhos normais do Brasil
(Universidade Estadual Paulista (Unesp), 2014-12-12)
The Williams-Beuren syndrome (WBS) is a rare genetic disorder characterized by various physical abnormalities, including facial dimorphisms, cardiovascular abnormalities, intellectual disability and growth characteristic ...
Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies
(CELL PRESS, 2010)
Chromosomal microarray (CMA) is increasingly utilized for genetic testing of individuals with unexplained developmental delay/intellectual disability (DD/ID), autism spectrum disorders (ASD), or multiple congenital anomalies ...
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 ...
Partial 5p monosomy or trisomy in 11 patients from a family with a t(5;15)(p13.3;p12) translocation
(2008)
A family with six alive patients with partial monosomy 5p and five with partial trisomy 5p due to a t(5;15)(p13.3;p12) translocation is reported. The translocation was present in four generations with eight balanced carriers. ...