The challenge of Down syndrome

SE Antonarakis, CJ Epstein - Trends in molecular medicine, 2006 - cell.com
Down syndrome (DS) has been recognized as a clinical entity for about 150 years, but it is
only recently that there has been hope for the possibility to understand its pathogenesis and …

Noninvasive prenatal diagnosis of fetal chromosomal aneuploidies by maternal plasma nucleic acid analysis

YM Dennis Lo, RWK Chiu - Clinical chemistry, 2008 - academic.oup.com
Background: The discovery of circulating cell-free fetal nucleic acids in maternal plasma has
opened up new possibilities for noninvasive prenatal diagnosis. The potential application of …

DNA methylation analysis by pyrosequencing

J Tost, IG Gut - Nature protocols, 2007 - nature.com
Pyrosequencing is a sequencing-by-synthesis method that quantitatively monitors the real-
time incorporation of nucleotides through the enzymatic conversion of released …

Digital PCR for the molecular detection of fetal chromosomal aneuploidy

YMD Lo, FMF Lun, KCA Chan… - Proceedings of the …, 2007 - National Acad Sciences
Trisomy 21 is the most common reason that women opt for prenatal diagnosis. Conventional
prenatal diagnostic methods involve the sampling of fetal materials by invasive procedures …

Patient-specific Alzheimer-like pathology in trisomy 21 cerebral organoids reveals BACE2 as a gene dose-sensitive AD suppressor in human brain

I Alić, PA Goh, A Murray, E Portelius, E Gkanatsiou… - Molecular …, 2021 - nature.com
A population of more than six million people worldwide at high risk of Alzheimer's disease
(AD) are those with Down Syndrome (DS, caused by trisomy 21 (T21)), 70% of whom …

Accurate, high-throughput typing of copy number variation using paralogue ratios from dispersed repeats

JAL Armour, R Palla, PLJM Zeeuwen… - Nucleic acids …, 2007 - academic.oup.com
Recent work has demonstrated an unexpected prevalence of copy number variation in the
human genome, and has highlighted the part this variation may play in predisposition to …

System and method for cleaning noisy genetic data and determining chromosome copy number

M Rabinowitz, M Banjevic, Z Demko… - US Patent …, 2019 - Google Patents
Disclosed herein is a system and method for increasing the fidelity of measured genetic
data, for making allele calls, and for determining the state of aneuploidy, in one or a small …

Methods for non-invasive prenatal ploidy calling

M Rabinowitz, G Gemelos, M Banjevic, A Ryan… - US Patent …, 2022 - Google Patents
The present disclosure provides methods for determining the ploidy status of a chromosome
in a gestating fetus from genotypic data measured from a mixed sample of DNA comprising …

Methods for simultaneous amplification of target loci

J Babiarz, TP Constantin, LA Eubank… - US Patent …, 2020 - Google Patents
First worldwide family litigation filed litigation Critical https://patents. darts-ip. com/? family=
67068241&utm_source= google_patent&utm_medium= platform_link&utm_campaign …

Methods for simultaneous amplification of target loci

J Babiarz, TP Constantin, LA Eubank… - US Patent …, 2020 - Google Patents
First worldwide family litigation filed litigation https://patents. darts-ip. com/? family=
67068241&utm_source= google_patent&utm_medium= platform_link&utm_campaign …