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Medical Hypotheses, 2010 Although all multicellular organisms undergo structural and functional deterioration with age, senescence is not a uniform process. Rather, each organism experiences a constellation of changes that reflect the heterogeneous effects of age on molecules, cells, organs and systems, an idiosyncratic pattern that we refer to as mosaic aging. Varying genetic,
Lary C, Walker, James G, Herndon
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Cell Cycle, 2012 "RASopathies" are a group of developmental syndromes with partly overlapping clinical symptoms that are caused by germline mutations of genes within the Ras/MAPK signaling pathway. Mutations affecting this pathway can also occur in a mosaic state, resulting in congenital syndromes often distinct from those generated by the corresponding germline ...
Christian, Hafner, Leopold, Groesser
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Molecular Genetics & Genomic Medicine, 2022 Background De novo variants are a common cause to rare intellectual disability syndromes, associated with low recurrence risk. However, when such variants occur pre‐zygotically in parental germ cells, the recurrence risk might be higher.
Sofia Frisk +9 more
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F&S Reports, 2023 Objective: To understand how mosaicism varies across patient-specific variables and clinics. Design: Cross-sectional cohort. Setting: Genetic testing laboratory.
Abigail Armstrong, M.D. +5 more
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BMC Genomics, 2022 Background In preimplantation genetic testing for aneuploidy (PGT-A), appropriate evaluation of mosaic embryos is important because of the adverse implications of transferring embryos with high-level mosaicism or discarding those with low-level mosaicism.
Dongjia Chen +13 more
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Mosaicism in 22q11.2 Microdeletion Syndrome [PDF]
Journal of Clinical and Diagnostic Research, 2018 Introduction: Microdeletion syndrome is characterized by sub-microscopic chromosomal deletion smaller than 5 Million bp (5Mb) and frequently associated with multiple congenital anomalies.
Ashutosh Halder +2 more
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Frontiers in Reproductive Health, 2023 IntroductionUniform chromosome abnormalities are commonly seen in early pregnancy loss, with analyses of the product of conception suggesting the presence of mosaic autosomal trisomy in ∼10% of cases.
Hadassa Campos Heiser +8 more
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Frontiers in Genetics, 2023 Chromosomal mosaicism remains a perpetual diagnostic and clinical dilemma. In the present study, we detected two prenatal trisomy 9 mosaic syndrome cases by using multiple genetic testing methods.
Na Ma +13 more
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On the origin of trisomy 21 Down syndrome [PDF]
, 2008 Background: Down syndrome, characterized by an extra chromosome 21 is the most common genetic cause for congenital malformations and learning disability.
Hultén, Maj A. +6 more
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Fertility & Reproduction, 2023 Background and Aims: Mosaicism arises from errors in the cell division process and can lead to cells containing a combination of normal and mutated genes. Mosaic embryos can produce healthy babies.
Huy-Phuong Tran +5 more
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