Browsing by Subject "comparative genomic hybridization"
Now showing items 1-5 of 5
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Autism spectrum disorder, anxiety and severe depression in a male patient with deletion and duplication in the 21q22.3 region: A case report
(2019)In this report, a patient carrying a 650 kb deletion and a 759 kb duplication of chromosomal 21q22.3 region was described. Facial dysmorphic features, hypotonia, short stature, learning impairment, autism spectrum disorder, ... -
BDNF rs6265 (Val66Met) Polymorphism as a Risk Factor for Blepharospasm
(2019)A few genetic variants are implicated in the development of blepharospasm (BSP). The precise role of the rs6265 on the brain-derived neurotrophic factor (BDNF) gene on BSP remains controversial. The effect of rs6265 on BSP ... -
A brief account of the rules applied to the naming and epidemiologically grouping Salmonella strains when isolated from animals
(2014)Salmonella spp., the most pathogenic genus of the family of Enterobacteriaceae for man and animals, has many of its pathogenicity determinants still unknown, although it is systematically studied for more than 100 years. ... -
Complex distal 10q rearrangement in a girl with mild intellectual disability: Follow up of the patient and review of the literature of non-acrocentric satellited chromosomes
(2011)We report on an intellectually disabled girl with a de novo satellited chromosome 10 (10qs) and performed a review of the literature of the non-acrocentric satellited chromosomes (NASC). Satellites and stalks normally occur ... -
Replicating a GWAS: two novel candidate markers for oligospermia in Greek population
(2021)Genome-wide association studies have paved the way for the discovery of new markers regarding many diseases, including male infertility. A previous study on Caucasians highlighted 172 polymorphisms for their putative ...