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Episignature analysis of moderate effects and mosaics
DNA methylation classifiers (“episignatures”) help to determine the pathogenicity of variants of uncertain significance (VUS). However, their...
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Variability of Supernumerary Chromosome Morphotypes and the Emergence of Micro B Chromosomes in the Karyotype of Apodemus peninsulae (Rodentia) in the Russian Far East
AbstractVariability in the number and morphotypes of macro, mini, and micro B chromosomes of Apodemus peninsulae in the valley Zeya River from Amur...
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Non-invasive preimplantation genetic testing for conventional IVF blastocysts
BackgroundPrevious studies suggested that non-invasive preimplantation genetic testing (niPGT) for intracytoplasmic sperm injection (ICSI)...
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Human embryonic genetic mosaicism and its effects on development and disease
Nearly every mammalian cell division is accompanied by a mutational event that becomes fixed in a daughter cell. When carried forward to additional...
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Face-induced gamma oscillations and event-related potentials in patients with epilepsy: an intracranial EEG study
BackgroundTo examine the pathological effect of a mesial temporal seizure onset zone (SOZ) on local and inter-regional response to faces in the...
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Diagnostic Procedure
In the case of clinical suspicion that a chromosome aberration is present, it is necessary, first of all, to consider the somatic cell system...
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Configuration and composition of human-dominated tropical landscapes affect the prevalence and average intensity of mite and fly infestation in Phyllostomidae bats
The conversion of natural areas into agricultural landscapes results in different mosaics of land use types, modifying biodiversity and consequently...
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Overcoming genetic and cellular complexity to study the pathophysiology of X-linked intellectual disabilities
X-linked genetic causes of intellectual disability (ID) account for a substantial proportion of cases and remain poorly understood, in part due to...
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Small Supernumerary Ring Chromosomes
Small supernumerary ring chromosomes (sSRCs) are a specific subgroup of ring chromosomes (RCs) normally present in addition to an otherwise normal...
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EM-mosaic detects mosaic point mutations that contribute to congenital heart disease
BackgroundThe contribution of somatic mosaicism, or genetic mutations arising after oocyte fertilization, to congenital heart disease (CHD) is not...
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Features of Expression of Foreign Genes in Complex Insertions in Transgenic Tobacco Plants with a Mosaic Pattern of nptII Gene Expression
AbstractThe features of a mosaic pattern of the expression of the npt II selective gene, which provides plant resistance to kanamycin antibiotic, and...
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Modelling new insecticide-treated bed nets for malaria-vector control: how to strategically manage resistance?
BackgroundThe program to eradicate malaria is at a critical juncture as a new wave of insecticides for mosquito control enter their final stages of...
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Evaluation of somatic and/or germline mosaicism in congenital malformation of the eye
Microphthalmia, Anophthalmia and Coloboma (MAC) form a spectrum of congenital eye malformations responsible for severe visual impairment. Despite the...
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Outlook
The information in this atlas of structural chromosome aberrations is depending on methods currently available to analysing the different types of...
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Parkinson’s disease with restless legs syndrome—an in vivo corneal confocal microscopy study
Small fiber neuropathy (SFN) has been suggested as a trigger of restless legs syndrome (RLS). An increased prevalence of peripheral neuropathy has...
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Map** cortical disease-burden at individual-level in frontotemporal dementia: implications for clinical care and pharmacological trials
Imaging studies of FTD typically present group-level statistics between large cohorts of genetically, molecularly or clinically stratified patients....
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Genetic Mosaic Analysis in Model Organisms
The definition of genetic mosaicism is the presence of cells with various genotypes within the same animal, which could be caused by somatic...
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The Contribution of Adaptive Optics to Our Understanding of the Mechanisms of Color Vision in Humans
We provide here a brief outline of data on color vision in animals and humans, along with the history and methods used in studying it. Results from...