Share This Author
Complex intrachromosomal rearrangement in 1q leading to 1q32.2 microdeletion: a potential role of SRGAP2 in the gyrification of cerebral cortex
It is hypothesize that aberrations in SRGAP2 are strong candidates underlying specific brain abnormalities, namely reduced volume of grey matter and reduced gyrification, in patients with Van der Woude syndrome.
High rates of submicroscopic aberrations in karyotypically normal acute lymphoblastic leukemia
High resolution molecular cytogenetic tools and molecular approaches like MLPA and aCGH need to be combined in a cost-efficient way, to identify disease and progression causing alterations in ALL, as majority of them are cryptic in banding cytogenetics analyses.
Comprehensive chronic lymphocytic leukemia diagnostics by combined multiplex ligation dependent probe amplification (MLPA) and interphase fluorescence in situ hybridization (iFISH)
Both MLPA and routine iFISH have comparable detection rates for aberrations being typically present in CLL and both were superior to MLPA in samples with low tumor cell load, and thus a cost-efficient scheme for routine diagnostics is proposed.
Novel Cryptic Rearrangements in Adult B-Cell Precursor Acute Lymphoblastic Leukemia Involving the MLL Gene
- M. Othman, B. Grygalewicz, T. Liehr
- Biology, MedicineThe journal of histochemistry and cytochemistry…
- 19 February 2015
The present findings confirm that, by far not all MLL aberrations are seen by routine chromosome banding techniques and that fluorescence in situ hybridization (FISH) should be regarded as standard tool to access MLL rearrangements in patients with BCP-ALL.
Molekularna citogenetika nekih neurorazvojnih poremećaja
- Martina Rinčić
- Biology, Medicine
- 5 November 2014
Comprehensive genetic analysis was conducted to determine the etiological diagnosis and to identify candidate genes underlying ID and ASD and revealed a potential candidate genes underlay the large number of undiagnosed cases.
A novel IGH@ gene rearrangement associated with CDKN2A/B deletion in young adult B-cell acute lymphoblastic leukemia.
The results of the present study indicate that a favorable prognosis is associated with these aberrations when the aforementioned treatment is administered, and retrospective application of fluorescence in situ hybridization (FISH) banding and locus-specific FISH probes, as well as multiplex ligation-dependent probe amplification and high resolution array-comparative genomic hybridization, revealed previously hidden aberration.
Isochromosome 17q in Chronic Lymphocytic Leukemia
- Eyad Alhourani, Martina Rinčić, T. Liehr
- Medicine, BiologyLeukemia research and treatment
- 30 November 2015
Interestingly, the cases with i( 17q) showed a tendency towards more associated chromosomal aberrations, and it may be suggested that the i(17q) presents an even more adverse prognostic marker than TP53 deletion alone.
Regarding the rights and duties of Clinical Laboratory Geneticists in genetic healthcare systems; results of a survey in over 50 countries
The first study on the rights and duties of CLGs is presented and the results of a survey performed in 35 European and 18 non-European countries with 100 participating specialists are presented.
European registration process for Clinical Laboratory Geneticists in genetic healthcare
Besides MDs and genetic counselors/nurses an EU-wide recognition system for Clinical Laboratory Geneticist has been established, which strengthens the status of specialists working in human genetic diagnostics in Europe and worldwide.