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Mostrando ítems 11-20 de 34
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 ...
Clinical and molecular delineation of the 17q21.31 microdeletion syndrome
(B M J PUBLISHING GROUP, 2008)
Background: The chromosome 17q21.31 microdeletion syndrome is a novel genomic disorder that has originally been identified using high resolution genome analyses in patients with unexplained mental retardation. Aim: We ...
Correlations between behavior, memory, sleep-wake and melatonin in Williams-Beuren syndrome
(2016-05-15)
Williams-Beuren syndrome (WBS), a neurodevelopmental disorder caused by a microdeletion on chromosomic region 7q11.23, presents with peculiar behavioral and neurocognitive phenotypes that are marked by apparently preserved ...
Cri-du-Chat syndrome diagnosed in a 21-year-old woman by means of comparative genomic hybridization
(Universidad Nacional de Colombia - Sede Bogotá - Facultad de Medicina, 2017-07-01)
The cri-du-chat syndrome is caused by a deletion on the short arm of chromosome number 5. The size of genetic material loss varies from the 5p15.2 region only to the whole arm. Prevalence rates range between 1:15000 and ...
Distal 22q11.2 Microduplication Combined With Typical 22q11.2 Proximal Deletion: A Case Report
(Wiley-Liss Inc., 2015)