[HTML][HTML] Cognitive profiles in children and adolescents with Down syndrome

…, C Marcolin, G Ramacieri, F Antonaros, B Vione… - Scientific Reports, 2022 - nature.com
The Down syndrome (DS) phenotype is usually characterized by relative strengths in non-verbal
skills and deficits in verbal processing, but high interindividual variability has been …

[HTML][HTML] The transcriptome profile of human trisomy 21 blood cells

…, R Zenatelli, G Guerri, M Bertelli, C Locatelli, B Vione… - Human genomics, 2021 - Springer
Background Trisomy 21 (T21) is a genetic alteration characterised by the presence of an
extra full or partial human chromosome 21 (Hsa21) leading to Down syndrome (DS), the most …

[HTML][HTML] One-carbon pathway and cognitive skills in children with Down syndrome

…, E Cicchini, L Carosi Diatricch, E Mannini, B Vione… - Scientific Reports, 2021 - nature.com
This work investigates the role of metabolite levels in the intellectual impairment of subjects
with Down syndrome (DS). Homocysteine, folate, vitamin B12, uric acid (UA), creatinine …

[HTML][HTML] Structural Characterization of the Highly Restricted Down Syndrome Critical Region on 21q22.13: New KCNJ6 and DSCR4 Transcript Isoforms

F Antonaros, M Pitocco, D Abete, B Vione… - Frontiers in …, 2021 - frontiersin.org
Down syndrome (DS) is caused by trisomy of chromosome 21 and it is the most common
genetic cause of intellectual disability (ID) in humans. Subjects with DS show a typical …

[HTML][HTML] A reassessment of Jackson's checklist and identification of two Down syndrome sub-phenotypes

…, F Pulina, C Marcolin, R Vianello, B Vione… - Scientific Reports, 2022 - nature.com
Down syndrome (DS) is characterised by several clinical features including intellectual
disability (ID) and craniofacial dysmorphisms. In 1976, Jackson and coll. identified a checklist of …

[HTML][HTML] One-carbon pathway metabolites are altered in the plasma of subjects with Down syndrome: Relation to chromosomal dosage

B Vione, G Ramacieri, G Zavaroni, A Piano… - Frontiers in …, 2022 - frontiersin.org
Down syndrome (DS) is the most common chromosomal disorder and it is caused by trisomy
of chromosome 21 (Hsa21). Subjects with DS show a large heterogeneity of phenotypes …

Zinc metabolism and its role in immunity status in subjects with trisomy 21: chromosomal dosage effect

…, GL Pirazzoli, P Strippoli, F Catapano, B Vione… - Frontiers in …, 2024 - frontiersin.org
Introduction Trisomy 21 (T21), which causes Down syndrome (DS), is the most common
chromosomal aneuploidy in humankind and includes different clinical comorbidities, among …

[HTML][HTML] Partial trisomy 21 with or without highly restricted Down syndrome critical region (HR-DSCR): report of two new cases and reanalysis of the genotype …

…, P Magini, F Antonaros, G Ramacieri, B Vione… - BMC Medical …, 2022 - Springer
Background Down syndrome (DS) is caused by the presence of an extra copy of full or partial
human chromosome 21 (Hsa21). Partial (segmental) trisomy 21 (PT21) is the duplication …

The functional roles of S‐adenosyl‐methionine and S‐adenosyl‐homocysteine and their involvement in trisomy 21

…, GL Pirazzoli, P Strippoli, F Antonaros, B Vione - …, 2024 - Wiley Online Library
The one‐carbon metabolism pathway is involved in critical human cellular functions such as
cell proliferation, mitochondrial respiration, and epigenetic regulation. In the homocysteine‐…

Cross-sectional developmental trajectories in the adaptive functioning of children and adolescents with Down syndrome

…, G Ramacieri, C Marcolin, F Antonaros, B Vione… - Research in …, 2024 - Elsevier
Background Persons with Down syndrome (DS) reveal adaptive functioning (AF) difficulties.
Studies on AF in DS have focused mainly on describing the profile (ie, strengths in …