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Velocardiofacial syndrome with a rare t(2;22)
(2007-07-01)
Rearrangements involving chromosomes 2 and 22 were described not only as acquired abnormalities in a variety of human neoplasias but also in the constitutional karyotype suggesting the existence of a greater fragility in ...
Genomic imprinting and human chromosome 15
(Sociedad de Biología de Chile, 2001)
Investigating 22q11.2 Deletion and Other Chromosomal Aberrations in Fetuses With Heart Defects Detected by Prenatal Echocardiography
(SPRINGER, 2010)
Congenital heart disease (CHD) is the most common birth defect and the leading cause of mortality in the first year of life. In fetuses with a heart defect, chromosomal abnormalities are very frequent. Besides aneuploidy, ...
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 ...
New recurrent deletions in the PPAR gamma and TP53 genes are associated with childhood myelodysplastic syndrome
(PERGAMON-ELSEVIER SCIENCE LTD, 2009)
Myelodysplastic syndrome (MDS) is a rare hematological malignancy in children. It was performed FISH analysis in 19 pediatric MDS patients to investigate deletions involving the PPAR gamma and TP53 genes. Significant losses ...