[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 …
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 …
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 …
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 …
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 …
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 …
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 …
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 …
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‐…
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 …
Studies on AF in DS have focused mainly on describing the profile (ie, strengths in …