background: here we describe a new case of partial distal 10q trisomy in a 6-year-old iranian girl from healthy parents with mental, growth, and psychomotor retardations. methods: additional clinical features include dysmorphic craniofacial features, microcephaly, bilateral hydronephrosis without heart problems, small and rotated low-set ears, bow-shaped mouth, abnormal teeth, short neck, and a...

given the importance of transcriptome analysis in various biological studies and considering thevast amount of whole transcriptome sequencing data, it seems necessary to develop analgorithm to assemble transcriptome data. in this study we propose an algorithm fortranscriptome assembly in the absence of a reference genome. first, the contiguous sequencesare generated using de bruijn graph with d...

primary de novo intraosseous carcinoma is a rare neoplastic lesion which commonly occurs in the jaws. it is an epithelial odontogenic malignancy arising from odontogenic epithelial residues in the bone rather than from a preexisting epithelial lesion. in the present case report, the clinical, radiological and histological features of primary de novo intraosseous carcinoma are discussed and its ...

Finding repetitive subsequences in genome is a challengeable problem in bioinformatics research area. A lot of approaches have been proposed to solve the problem, which could be divided to library base and de novo methods. The library base methods use predetermined repetitive genome’s subsequences, where library-less methods attempt to discover repetitive subsequences by analytical approach...

Small supernumerary marker chromosomes (sSMCs), or markers, are abnormal chromosomal fragments that can be hereditary or de novo. Despite the importance of sSMCs diagnosis, de novo sSMCs are rarely detected during the prenatal diagnosis process. Usually, prenatally diagnosed de novo sSMCs cannot be correlated with a particular phenotype without knowing their chromosomal origin and content; ther...

finding repetitive subsequences in genome is a challengeable problem in bioinformatics research area. a lot of approaches have been proposed to solve the problem, which could be divided to library base and de novo methods. the library base methods use predetermined repetitive genome’s subsequences, where library-less methods attempt to discover repetitive subsequences by analytical approaches. ...

Background: Mutation in NPM1 gene has been reported to be the most common genetic mutation in de novo acute myeloid leukemia (AML). AML with NPM1 gene mutation usually presents with higher initial leukocyte and blast cell counts and negative CD34 expression. We aimed to investigate the difference of initial leukocyte counts, bone marrow blast cell counts and expression of CD34 among patients wi...

adipose tissue secretes a large number of adipocytokines such as leptin, resistin, and adiponectin. many of these hormones and cytokines are altered in obese individuals and may lead to disruption of the normal balance between cell proliferation, differentiation, and apoptosis. the aim of our work was to investigate the disturbance of secretion of adiponectin and resistin in de novo and relapse...

Small supernumerary marker chromosomes (sSMC) are still a major problem in clinical cytogenetics as they cannot be identified or characterized unambiguously by conventional cytogenetics alone. On the other hand, and perhaps more importantly in prenatal settings, there is a challenging situation for counseling how to predict the risk for an abnormal phenotype, especially in cases with a de novo ...