Cellular barcoding to decipher clonal dynamics in disease
Cellular barcodes are distinct DNA sequences that enable one to track specific cells across
time or space. Recent advances in our ability to detect natural or synthetic cellular barcodes …
time or space. Recent advances in our ability to detect natural or synthetic cellular barcodes …
Mosaicism for trisomy 21: a review
P Papavassiliou, C Charalsawadi… - American Journal of …, 2015 - Wiley Online Library
The clinical and cytogenetic findings associated with mosaicism for trisomy 21/Down
syndrome are the focus of this review. The primary topics discussed in this overview of the …
syndrome are the focus of this review. The primary topics discussed in this overview of the …
A non-mosaic transchromosomic mouse model of down syndrome carrying the long arm of human chromosome 21
Animal models of Down syndrome (DS), trisomic for human chromosome 21 (HSA21) genes
or orthologs, provide insights into better understanding and treatment options. The only …
or orthologs, provide insights into better understanding and treatment options. The only …
The human periconceptional maternal-embryonic space in health and disease
I Moreno, A Capalbo, A Mas… - Physiological …, 2023 - journals.physiology.org
Pregnancy is established during the periconceptional period as a continuum beginning with
blastocyst attachment to the endometrial epithelial surface followed by embryo invasion and …
blastocyst attachment to the endometrial epithelial surface followed by embryo invasion and …
Lifespan analysis of brain development, gene expression and behavioral phenotypes in the Ts1Cje, Ts65Dn and Dp (16) 1/Yey mouse models of Down syndrome
NM Aziz, F Guedj, JLA Pennings… - Disease models & …, 2018 - journals.biologists.com
Down syndrome (DS) results from triplication of human chromosome 21. Neuropathological
hallmarks of DS include atypical central nervous system development that manifests …
hallmarks of DS include atypical central nervous system development that manifests …
Survival among people with Down syndrome: a nationwide population-based study in Denmark
Purpose: Several studies have shown substantially longer survival among persons with
Down syndrome in recent decades. We examined survival patterns among Danish persons …
Down syndrome in recent decades. We examined survival patterns among Danish persons …
Mouse models of aneuploidy to understand chromosome disorders
J Tosh, V Tybulewicz, EMC Fisher - Mammalian Genome, 2022 - Springer
An organism or cell carrying a number of chromosomes that is not a multiple of the haploid
count is in a state of aneuploidy. This condition results in significant changes in the level of …
count is in a state of aneuploidy. This condition results in significant changes in the level of …
Chromosomal abnormalities predisposing to infertility, testing, and management: a narrative review
Background Much interest has not been placed on the role of chromosomal abnormalities in
the pathogenesis and rising prevalence of infertility in recent times. This review was …
the pathogenesis and rising prevalence of infertility in recent times. This review was …
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 …
Robertsonian translocations: an overview of 872 Robertsonian translocations identified in a diagnostic laboratory in China
WW Zhao, M Wu, F Chen, S Jiang, H Su, J Liang… - PLoS …, 2015 - journals.plos.org
Robertsonian translocations (ROBs) have an estimated incidence rate of 1/1000 births,
making this type of rearrangement the most common structural chromosomal abnormalities …
making this type of rearrangement the most common structural chromosomal abnormalities …