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We characterized two novel chromosomal translocations [t(1;3)(q23.1;q21.3) and t(1;18)(q24.2;p11.32)] accompanied by rearrangement of both chromosomes 1 in a CLL patient, possibly correlated with the development and the prognosis of the disease.
ORGANISM(S): Homo sapiens 
We described the clinical and molecular data of a patient with a 19p13.3 microdeletion detected by using high-resolution SNP-array
ORGANISM(S): Homo sapiens 
The hypothesis that the onset and development of colorectal cancer result from the alteration of the close cooperation of mRNA-miRNA has gained increasing popularity. We performed a multifaceted enrichment analysis of hypernetworks, taking advantage of the simultaneous evaluation of transcriptome an...
ORGANISM(S): Homo sapiens 
We report on two novel t(15;21) alterations [t(15;21)(q24;q22) and t(15;21)(q21;q22)], which led to concurrent disruption of RUNX1 and two translocation partner genes encoding for transcription factors (SIN3A, TCF12) Examination of four different patients with myeloid disorders. 2 out of 4 have been...
ORGANISM(S): Homo sapiens 
SNP array profile of cell lines from solid tumors showing MYCN amplification as Double minutes (dmin) and homogeneously staining regions (hsr)
ORGANISM(S): Homo sapiens 
In order to clarify the mechanism to MYC (8q24) amplification as dmin or hsr, we finely investigated the organization of amplicons in seven tumor cell lines [four SCLC, one AML, and two Colon Carcinoma (CC)] by integrating next-generation sequencing (NGS), Fluorescent in situ hybridization (FISH), P...
ORGANISM(S): Homo sapiens 
We apply the cellular reprogramming experimental paradigm to two disorders caused by symmetrical copy number variations (CNV) of 7q11.23 and displaying a striking combination of shared as well as symmetrically opposite phenotypes: Williams Beuren syndrome (WBS) and 7q microduplication syndrome (7dup...
ORGANISM(S): Homo sapiens 
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