Chromosome copy number variants in fetuses with syndromic malformations
Sign Up to like & getrecommendations! Published in 2017 at "Birth Defects Research"
DOI: 10.1002/bdr2.1054
Abstract: Chromosome copy number variants (CNVs; gains and losses of DNA sequences >1 kb) are wide‐spread throughout the genome of healthy individuals. Laboratory studies show that a subset of CNVs are pathogenic, and not only can be… read more here.
Keywords: copy number; syndromic malformations; fetuses syndromic; chromosome copy ... See more keywords
The use of copy number loads to designate mosaicism in blastocyst stage PGT-A cycles: fewer is better.
Sign Up to like & getrecommendations! Published in 2023 at "Human reproduction"
DOI: 10.1093/humrep/dead049
Abstract: STUDY QUESTION How well can whole chromosome copy number analysis from a single trophectoderm (TE) biopsy predict true mosaicism configurations in human blastocysts? SUMMARY ANSWER When a single TE biopsy is tested, wide mosaicism thresholds… read more here.
Keywords: mosaicism; chromosome copy; copy number; copy ... See more keywords
Absolute quantification of chromosome copy numbers in the polyploid macronucleus of Tetrahymena thermophila at the single‐cell level
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Eukaryotic Microbiology"
DOI: 10.1111/jeu.12907
Abstract: Amitosis is widespread among eukaryotes, but the underlying mechanisms are poorly understood. The polyploid macronucleus (MAC) of unicellular ciliates divides by amitosis, making ciliates a potentially valuable model system to study this process. However, a… read more here.
Keywords: chromosome copy; mac chromosomes; number; copy number ... See more keywords
Improving Industrially Relevant Phenotypic Traits by Engineering Chromosome Copy Number in Saccharomyces pastorianus
Sign Up to like & getrecommendations! Published in 2020 at "Frontiers in Genetics"
DOI: 10.3389/fgene.2020.00518
Abstract: The lager-brewing yeast Saccharomyces pastorianus is a hybrid between S. cerevisiae and S. eubayanus with an exceptional degree of aneuploidy. While chromosome copy number variation (CCNV) is present in many industrial Saccharomyces strains and has… read more here.
Keywords: chromosome copy; industrially relevant; copy number; saccharomyces pastorianus ... See more keywords