Down syndrome
Trisomy 21, the presence of a supernumerary chromosome 21, results in a collection of
clinical features commonly known as Down syndrome (DS). DS is among the most …
clinical features commonly known as Down syndrome (DS). DS is among the most …
[HTML][HTML] Neurodevelopment in Down syndrome: Concordance in humans and models
JA Klein, TF Haydar - Frontiers in cellular neuroscience, 2022 - frontiersin.org
Great strides have been made over the past 30 years in understanding the
neurodevelopmental changes underlying the intellectual disability (ID) in Down syndrome …
neurodevelopmental changes underlying the intellectual disability (ID) in Down syndrome …
[HTML][HTML] Early alterations in cortical and cerebellar regional brain growth in Down Syndrome: An in vivo fetal and neonatal MRI assessment
PA Patkee, AA Baburamani, V Kyriakopoulou… - NeuroImage: Clinical, 2020 - Elsevier
Down Syndrome (DS) is the most frequent genetic cause of intellectual disability with a wide
spectrum of neurodevelopmental outcomes. At present, the relationship between structural …
spectrum of neurodevelopmental outcomes. At present, the relationship between structural …
[HTML][HTML] Quantification of sulcal emergence timing and its variability in early fetal life: hemispheric asymmetry and sex difference
Human fetal brains show regionally different temporal patterns of sulcal emergence
following a regular timeline, which may be associated with spatiotemporal patterns of gene …
following a regular timeline, which may be associated with spatiotemporal patterns of gene …
[HTML][HTML] Lessons learned from neuroimaging studies of copy number variants: a systematic review
C Modenato, S Martin-Brevet, CA Moreau… - Biological …, 2021 - Elsevier
Pathogenic copy number variants (CNVs) and aneuploidies alter gene dosage and are
associated with neurodevelopmental psychiatric disorders such as autism spectrum disorder …
associated with neurodevelopmental psychiatric disorders such as autism spectrum disorder …
Prenatal and postnatal pharmacotherapy in Down syndrome: the search to prevent or ameliorate neurodevelopmental and neurodegenerative disorders
R Bartesaghi, S Vicari… - Annual review of …, 2022 - annualreviews.org
Those with Down syndrome (DS)—trisomy for chromosome 21—are routinely impacted by
cognitive dysfunction and behavioral challenges in children and adults and Alzheimer's …
cognitive dysfunction and behavioral challenges in children and adults and Alzheimer's …
[HTML][HTML] Developmental deficits and staging of dynamics of age associated Alzheimer's disease neurodegeneration and neuronal loss in subjects with Down …
J Wegiel, M Flory, I Kuchna, K Nowicki, J Wegiel… - Acta neuropathologica …, 2022 - Springer
The increased life expectancy of individuals with Down syndrome (DS) is associated with
increased prevalence of trisomy 21–linked early-onset Alzheimer's disease (EOAD) and …
increased prevalence of trisomy 21–linked early-onset Alzheimer's disease (EOAD) and …
Longitudinal neuroanatomical and behavioral analyses show phenotypic drift and variability in the Ts65Dn mouse model of Down syndrome
PR Shaw, JA Klein, NM Aziz… - Disease models & …, 2020 - journals.biologists.com
Mouse models of Down syndrome (DS) have been invaluable tools for advancing
knowledge of the underlying mechanisms of intellectual disability in people with DS. The Ts …
knowledge of the underlying mechanisms of intellectual disability in people with DS. The Ts …
[HTML][HTML] Assessment of radial glia in the frontal lobe of fetuses with Down syndrome
Down syndrome (DS) occurs with triplication of human chromosome 21 and is associated
with deviations in cortical development evidenced by simplified gyral appearance and …
with deviations in cortical development evidenced by simplified gyral appearance and …
[HTML][HTML] Comprehensive quantitative analyses of fetal magnetic resonance imaging in isolated cerebral ventriculomegaly
T Tarui, N Madan, G Graham, R Kitano, S Akiyama… - NeuroImage: Clinical, 2023 - Elsevier
Isolated cerebral ventriculomegaly (IVM) is the most common prenatally diagnosed brain
anomaly occurs in 0.2–1% of pregnancies. However, knowledge of fetal brain development …
anomaly occurs in 0.2–1% of pregnancies. However, knowledge of fetal brain development …