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The bimodal distribution pattern indicates that chromosome arms are largely divided into two groups, those with a smaller number of aberrations (less than 50 probes) and those with a larger number of aberrations (more than 50 probes).
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These improvements allow NSA to also detect recurrent aberrations more accurately than other state of the art methods.
We found that aberrations increased more than 2-fold when compared to nonirradiated azot −/− flies.
Two tumors showed genetic similarity to low-risk tumors in that they showed whole chromosome aberrations for more than half of the chromosomes and only few segmental gains or losses.
In summary, the clinical picture in patients with methylation aberrations affecting more than one imprinted locus can be different from that of patients with single epimutations, but is not necessarily so.
A number of genetic aberrations, including more than 40 different missense mutations that encode single-amino acid changes in PMP22 distributed throughout its sequence, result in mild to severe peripheral neuropathy and disability.
On the other hand, p53 overexpression and advanced tumor stage (3b &4 vs 2&3a) showed a borderline significance (table 4) * The median age for the studied patients ** Data regarding metastatic recurrence was available for 54 cases only The OS rates were also assessed in relation to combined genetic aberrations involving more than one gene (Table 5).
When an aberration covers more than one BAC clone, and the frequencies are uneven across the BAC clones, the minimum and maximum frequencies are shown.
We have also observed a statistically significant association of SMAD4 gene aberrations with KRAS mutant status suggesting the involvement of at least two molecules in the advanced tumor grade in colorectal cancers; in other words, in case of high grade advanced tumor, aberration in more than one molecular gate keeper of several signal transduction pathways may be involved.
Non-centromeric chromosomal aberrations occurring in more than 20% of the cases are presented in Tables 2 and 3. A large fraction of samples show gross whole chromosome-level alterations (Figure 1).
In addition to the rearrangements involving 22q12, non-random chromosomal aberrations occur in more than 50% of cytogenetically analysed ETs (Sandberg and Bridge, 2000; Mitelman et al, 2001).
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