نتایج جستجو برای: duplications
تعداد نتایج: 5637 فیلتر نتایج به سال:
Isolated duplications of the alimentary tract are rare congenital malformations with a reported incidence of 1:5000.1,2 Duplication anomalies of the pyloroduodenal region are not common as well. Intestinal duplications should be considered if additional specific development malformations are present. The aetiology of duplication cysts may be multifactorial.3 The usual symptoms in patients with ...
The authors recently discovered inadvertent duplication of figure panels in Figs. 4 A and S4 A. These duplications occurred during the process of figure compilation. The authors provided the journal with the correct original representative data and replicates. These data confirm that correcting these duplications does not impact the interpretation of the figure or the conclusions of the paper. ...
Results: A structural chromosomal abnormality was observed in 95 cases. The most frequently observed structural abnormalities were balanced translocations with a frequency of 53.7% (51 cases) followed by unbalanced translocations (16.8%), inversions (11.6%), supernumerary marker chromosomes (8.4%), duplications (4.2%), deletions and ring chromosomes (2.1%) and complex translocation (1.1%). rare...
Inhibition of SRGAP2 Function by Its Human-Specific Paralogs Induces Neoteny during Spine Maturation
Structural genomic variations represent a major driving force of evolution, and a burst of large segmental gene duplications occurred in the human lineage during its separation from nonhuman primates. SRGAP2, a gene recently implicated in neocortical development, has undergone two human-specific duplications. Here, we find that both duplications (SRGAP2B and SRGAP2C) are partial and encode a tr...
Flowering plants contain many genes, most of which were created during the past 200 or so million years through small- and large-scale duplications. Paleo-polyploidy events, in particular, have been the subject of much recent research. There is a growing consensus that one or more genome doubling or merging events occurred early during the evolution of the flowering plants, and that many lineag...
Urethral duplication is a rare congenital anomaly that is usually seen in males and, in rare cases, in females. Several different anatomical variations have been described. Sagittal localisation is the most common type of urethral duplication that usually develops as an isolated malformation. Coronal duplications, on the other hand, are rarer and are found in association with bladder duplicatio...
Task duplication is an effective scheduling technique for reducing the response time of workflow applications in dynamic grid computing systems. Task duplication based scheduling algorithms generate shorter schedules without sacrificing efficiency but leave the computing resources over consumed due to the heavily duplications. In this paper, we try to minimize the duplications of tasks from the...
Segmental duplications, relatively long and nearly identical regions, prevalent in the mammalian genome, are successfully modeled by directed acyclic graphs. Reconstructing the evolutionary history of these genomic regions is a non-trivial, but important task, as segmental duplications harbor recent primate-specific and human-specific innovations and also mediate copy number variation within th...
Genomic stability is critical for the clinical use of human embryonic and induced pluripotent stem cells. We performed high resolution SNP (single nucleotide polymorphism) analysis on 186 pluripotent and 119 non-pluripotent samples. We report a higher frequency of subchromosomal copy number variations in pluripotent samples compared to non-pluripotent samples, with variations enriched in specif...
We present a 12-year-old girl with karyotype 46,XX. A comparative genomic hybridization array revealed a 3.172-Mb microduplication on 22q11.2. This chromosome 22q11.2 region microduplication has been described in patients with variable phenotypes; a large majority of them have identical 3-Mb duplications. The girl presented mild mental motor retardation, facial dysmorphism consisting of a ...
نمودار تعداد نتایج جستجو در هر سال
با کلیک روی نمودار نتایج را به سال انتشار فیلتر کنید