Mosaicism in traditional Mendelian diseases
TW Ting, R Shahdadpuri, SS Jamuar - Current Genetic Medicine Reports, 2015 - Springer
Somatic mutations are post-zygotic mutational event that leads to generation of two or more
genotypes within an individual. With the recent advances in genomic technologies, there is …
genotypes within an individual. With the recent advances in genomic technologies, there is …
Mosaicism in rare disease
BE Avigdor, IA Osei-Owusu, J Pevsner - Genomics of rare diseases, 2021 - Elsevier
Mosaicism is the presence of two or more genomes in an individual derived from a single
zygote. Mosaicism may occur in germ cells (germline mosaicism), potentially causing …
zygote. Mosaicism may occur in germ cells (germline mosaicism), potentially causing …
[HTML][HTML] De novo mutations, genetic mosaicism and human disease
M Mohiuddin, RF Kooy, CE Pearson - Frontiers in genetics, 2022 - frontiersin.org
Mosaicism—the existence of genetically distinct populations of cells in a particular organism—
is an important cause of genetic disease. Mosaicism can appear as de novo DNA mutations …
is an important cause of genetic disease. Mosaicism can appear as de novo DNA mutations …
Somatic mosaicism: implications for disease and transmission genetics
Nearly all of the genetic material among cells within an organism is identical. However,
single-nucleotide variants (SNVs), small insertions/deletions (indels), copy-number variants …
single-nucleotide variants (SNVs), small insertions/deletions (indels), copy-number variants …
Mosaicism and clinical genetics
NB Spinner, LK Conlin - … Journal of Medical Genetics Part C …, 2014 - Wiley Online Library
With the introduction of increasingly sensitive technologies for mutation detection such as
chromosomal microarrays and next‐generation sequencing, the importance of mosaicism …
chromosomal microarrays and next‐generation sequencing, the importance of mosaicism …
Mosaicism in human health and disease
J Thorpe, IA Osei-Owusu, BE Avigdor… - Annual review of …, 2020 - annualreviews.org
Mosaicism refers to the occurrence of two or more genomes in an individual derived from a
single zygote. Germline mosaicism is a mutation that is limited to the gonads and can be …
single zygote. Germline mosaicism is a mutation that is limited to the gonads and can be …
Characterization of early postzygotic somatic mutations through multi-organ analysis
Mosaicisms caused by postzygotic mutational events are of increasing interest because of
their potential association with various human diseases. Postzygotic somatic mutations have …
their potential association with various human diseases. Postzygotic somatic mutations have …
[HTML][HTML] Mosaicism: implications for genetic counseling and medical management
L Waldman - Number 4/August 2017, 2017 - cjon.ons.org
Although the idea that all cells in the body contain an identical genetic component
(genotype) may be a tempting one, the reality is that cells often differ genetically. Mosaicism …
(genotype) may be a tempting one, the reality is that cells often differ genetically. Mosaicism …
Somatic mosaicism and neurological diseases
Somatic mutations occur after the formation of the zygote, reflecting random mutations
during normal mitotic cell divisions of embryonic development, and are hence present in …
during normal mitotic cell divisions of embryonic development, and are hence present in …
[HTML][HTML] Somatic mosaicism in the human genome
D Freed, EL Stevens, J Pevsner - Genes, 2014 - mdpi.com
Somatic mosaicism refers to the occurrence of two genetically distinct populations of cells
within an individual, derived from a postzygotic mutation. In contrast to inherited mutations …
within an individual, derived from a postzygotic mutation. In contrast to inherited mutations …