V. G. Antonenko

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Introducing molecular genetic techniques into clinical practice has made it possible to detect del 22q11.2, an etiological factor for congenital cardiovascular diseases in CATCH 22. The authors' complex (clinical, syndromological, molecular genetic, and computed) approach to examining this group of syndromes has enabled patients at high risk for CATCH 22 to(More)
The results of 2233 stereotaxic operations in 1812 patients are presented. Of them, 1286 were performed for parkinsonism, 439--for infantile cerebral paralysis, 150--for deforming muscular dystonia, 125--for epilepsy, 64--for neuro-oncological pathology, 169--for other diseases of the central nervous system. The best results were obtained in parkinsonism(More)
The article deals with the results of 2,220 stereotaxic operations carried out on 1,812 patients with various diseases of the central nervous system: 1,286 operations in parkinsonism, 439 in cerebral infantile paralysis, 150 in torsion dystonia (dystonia musculorum deformans), etc. The best results were produced in parkinsonism and dystonia musculorum(More)
In a group of 140 patients with typical phenotype, the 22q11.2 microdeletion was detected in 43 patients (32%) using FISH and MLPA methods. There were no deletions of other chromosomal loci causing to phenotypes similar to the 22q11.2 deletion syndrome (22q11.2DS). Sequencing of the TBX1 gene did not detect any mutations, except for some common neutral(More)
In the course of neurosurgical interventions in 40 patients with parkinsonism and torsion muscle dystonia, the background activity (BA) was recorded from 124 neurons of the ventrolateral nucleus (VL) of the thalamus with the aid of microelectrodes during demarcation of boundaries between nuclear structures, and identification of zones within a nucleus. The(More)
Clinical follow-up of 9 patients with agenesis of the corpus callosum is analysed. It is established that the pleomorphism of the clinical manifestations in agenesis of the corpus callosum is determined by the concomitant cerebral lesions. Pneumoencephalography should be considered the method of choice in the diagnosis of agenesis of the corpus callosum(More)
Computerized comparisons of phenotypes observed in different kinds of chromosomal imbalance and presented in the form of sparse matrices of traits were made to study the specificity of the indicated phenotypes, the possibility of differential diagnosis of the clinically similar forms, the presence of genetic markers, and the correspondence of the compared(More)
Multiple congenital developmental abnormalities account for a considerable share in the structure of the childhood morbidity, mortality and disability. Still, the differential diagnosis of the above abnormalities presents considerable difficulties because of the diversity of the forms and genetic pleomorphism. Using the method of rarefied templates of the(More)