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Mostrando ítems 101-110 de 959
2 CASES OF YAUTOSOME TRANSLOCATIONS - A 45,X MALE AND A CLINICALLY TRISOMY-18 PATIENT
(Wiley-lissNew York, 1994)
Partial microduplication in the histone acetyltransferase complex member KANSL1 is associated with congenital heart defects in 22q11.2 microdeletion syndrome patients
(Nature, 2017)
22q11.2 microdeletion syndrome (22q11.2DS) is the most common microdeletion disorder in humans, with an incidence of 1/4000 live births. It is caused by a heterozygous deletion of 1.5-3 Mb on chromosome region 22q11.2. ...
Genetic characterization of 32 X-InDels in a population sample from São Paulo State (Brazil)
(2019-09-01)
X-chromosomal markers can be useful in some forensic cases, where the analysis of the autosomal markers is not conclusive. In this study, a population sample of 500 unrelated individuals born in São Paulo State was ...
Estudio de las aneuploidías del cromosoma 17 y la deleción del gen TP53 en neoplasias hematológicas, por la técnica del FISH-bicolorStudy of Chromosome 17 Aneuploidy and of TP53 Gene Deletion In patients with Hematological Neoplasias by Dual-color Fluorescence in Situ Hybridization (FISH)
(Universidad de Antioquia, Facultad de MedicinaMedellín, Colombia, 2021)
A rare non-Robertsonian translocation involving chromosomes 15 and 21
(Associação Paulista de Medicina (APM), 2014)
A rare non-Robertsonian translocation involving chromosomes 15 and 21Uma rara translocacao nao robertsoniana envolvendo os cromossomos 15 e 21
(Associação Paulista de Medicina (APM), 2014)
22q11 deletion syndrome and limb anomalies: Report on two Brazilian patients
(ALLIANCE COMMUNICATIONS GROUP DIVISION ALLEN PRESS, 2008)
Objective: To report on two Brazilian patients with chromosome 22q11 deletion who presented with velopharyngeal insufficiency, congenital heart anomalies, developmental delay, and limb anomalies. The pattern of limb anomalies ...