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Chromosome number
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Since different types of genetic variants, from single nucleotide variants (SNVs) to large chromosomal rearrangements, underlie intellectual disability, we evaluated the use of whole-genome sequencing (WGS) rather than chromosomal microarray analysis (CMA) as a first-line genetic diagnostic test.
23p
vibransone
28-03-2024
1
1
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Large numbers of autosomal sites are found differentially methylated in the aging genome. Due to analytical difficulties in dealing with sex differences in X-chromosome content and X-inactivation (XCI) in females, this has not been explored for the X chromosome.
13p
vibransone
28-03-2024
1
1
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The aim of this study was to examine the diagnostic yield of microarray testing and the functional impact of genome-wide rare CNVs in a community ascertained cohort of adults with schizophrenia and low (< 85) or average (≥ 85) IQ.
13p
vioraclene
31-03-2024
3
1
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Exon-targeted microarrays can detect small (
15p
vioraclene
31-03-2024
5
2
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The multiple de novo copy number variant (MdnCNV) phenotype is described by having four or more constitutional de novo CNVs (dnCNVs) arising independently throughout the human genome within one generation. It is a rare peri-zygotic mutational event, previously reported to be seen once in every 12,000 individuals referred for genome-wide chromosomal microarray analysis due to congenital abnormalities.
21p
viellison
28-03-2024
3
2
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To evaluate the correlation between the concentration of AMH (Anti-mullerian hormone) with the number of oocytes and embryos obtained in general and in each maternal age group, in particular on infertile patients undergoing in vitro fertilization (IVF) combined with preimplantation genetic testing for aneuploidy (PGT-A).
9p
videadpool
06-05-2023
3
2
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High-resolution mapping of the loci (QTN) responsible for genetic variation in quantitative traits is essential for positional cloning of candidate genes, and for effective marker assisted selection. The confidence interval (QTL) flanking the point estimate of QTN-location is proportional to the number of individuals in the mapping population carrying chromosomes recombinant in the given interval.
16p
vinarcissa
21-03-2023
2
1
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Spontaneous triploidy has been reported in a number of fish species, and is often linked with in vivo or in vitro ageing of eggs post ovulation. Here, we provide the first investigation into the frequency of spontaneous triploidy in farmed Atlantic salmon by analysing more than 4000 fish from 55 farms, and approximately 1000 recaptured escapees, all sampled in the period 2007–2014.
10p
vinarcissa
21-03-2023
4
1
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Satellite DNA sequences are the most abundant components of heterochromatin and are repeated in tandem hundreds to thousands of times in the genome. However, the number of repeats of a specific satellite family can vary even between the genomes of related species or populations.
11p
vinarcissa
21-03-2023
2
1
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The rearrangements in the 22q11.2 chromosomal region, responsible for the 22q11.2 deletion and microduplication syndromes, are frequently associated with congenital heart disease (CHD). The present work aimed to identify the genetic basis of CHD in 87 patients from the São Miguel Island, Azores, through the detection of copy number variants (CNVs) in the 22q11.2 region.
11p
vinarcissa
21-03-2023
1
1
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Meiotic recombination, one of the central biological processes studied in population genetics, comes in two known forms: crossovers and gene conversions. A number of previous studies have shown that when one of these two events is nonexistent in the genealogical model, the point estimation of the corresponding recombination rate by population genetic methods tends to be inflated.
8p
vinarcissa
21-03-2023
2
1
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Acipenseriformes is a basal lineage of ray-finned fishes and comprise 27 extant species of sturgeons and paddlefishes. They are characterized by several specific genomic features as broad ploidy variation, high chromosome numbers, presence of numerous microchromosomes and propensity to interspecific hybridization.
12p
vinarcissa
21-03-2023
2
1
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Evolution of sturgeons and paddlefishes (order Acipenseriformes) is inherently connected with polyploidization events which resulted in differentiation of ploidy levels and chromosome numbers of present acipenseriform species.
10p
vinarcissa
21-03-2023
3
1
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Haploid yeast cells undergo a reversible phenotypic switch associated with chromosome II copy number
SUP35 and SUP45 are essential genes encoding polypeptide chain release factors. However, mutants for these genes may be viable but display pleiotropic phenotypes which include, but are not limited to, nonsense suppressor phenotype due to translation termination defect.
9p
vinarcissa
21-03-2023
3
1
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Despite extensive research the genetic component of extremely low birth weight (ELBW) in newborns has remained obscure. A family of four was studied: mother, father and two ELBW-phenotype children. Studies were made of the medical conditions of the second child at birth and post-partum - peculiar phenotype, micro-anomalies, recurrent infections, suspicion of autoimmune hepatitis, multifactorial encephalopathy and suspected metabolic and chromosomal abnormalities.
5p
vinarcissa
21-03-2023
6
1
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The use of information across populations is an attractive approach to increase the accuracy of genomic prediction for numerically small populations. However, accuracies of across population genomic prediction, in which reference and selection individuals are from different populations, are currently disappointing.
12p
vinarcissa
21-03-2023
3
1
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Karayomorphological analysis and monoploid genome size (2Cx DNA) of 12 Iranian Medicago monantha populations are reported. Flow cytometric analysis were conducted on freshly collected seeds, using Solanum lycopersicum cv. Stupicke (2C DNA = 1.96 pg), as the internal reference standard. All populations were diploid with variable degrees of mixoploidy and two different chromosome numbers within each population.
12p
lyhuyenthu
31-01-2023
4
2
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Genome size, i.e. the total amount of DNA in an unreplicated somatic nucleus is considered an important character in the biology of organisms, and it is especially relevant for land plants given the extraordinary diversity reported. Despite the continuous growth of data and the efforts aimed at increasing our understanding of plant genome size diversity, more data are needed to have an evenly representation across lineages.
8p
lyhuyenthu
31-01-2023
6
2
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In this study, Turkish Cousinia species were examined in point of chromosome number and morphology. To our knowledge, this work is the first comprehensive chromosomal study regarding Turkish Cousinia as a whole, especially for endemics. As consistent with previous reports, the chromosome numbers are mostly 2n = 26 and have been determined also as 2n = 24 for only the members of Cynaroideae and Sphaerocephalae sections.
16p
lyhuyenthu
31-01-2023
6
2
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Up to now, diploid and triploid cultivars were reported for the ornamental crop Hydrangea macrophylla. Especially, the origin of triploids and their crossing behaviors are unknown, but the underlying mechanisms are highly relevant for breeding polyploids.
13p
vihagrid
30-01-2023
7
4
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