Full-text resources of CEJSH and other databases are now available in the new Library of Science.
Visit https://bibliotekanauki.pl

Results found: 2

first rewind previous Page / 1 next fast forward last

Search results

Search:
in the keywords:  exome sequencing
help Sort By:

help Limit search:
first rewind previous Page / 1 next fast forward last
1
Publication available in full text mode
Content available

A 16-year-old patient with Charcot Marie Tooth disease in variant c.217G>C of the INF2 gene and focal glomerulosclerosis – a case report

100%
Przygoda M., Matias D., Jurczak M., Sokołowska A., Raba K., Wołkanowski J., Rydzanicz M., Kosińska J., Płoski R., Aebisher D., Pyrkosz A.
European Journal of Clinical and Experimental Medicine
|
2021
|
issue 4
341-346
EN
Introduction. Charcot Marie Tooth disease (CMT) is currently one of the most commonly diagnosed and commonly hereditary sensorimotor neuropathies. Concluding from the literature, this is the first study describing the case of a patient with CMT disease in the c.217G> C variant of the INF2 gene and focal segmental glomerulosclerosis. Aim. To present a case of a 16-year-old patient suffering from CMT disease in variant c.217G> C of the INF2 gene and focal glomerulosclerosis. Description of the case. The text describes the CMT disease in a patient who underwent the WES / WGS-NGS genetic test and found a mutation within the INF2 gene at the chromosomal position hg38 14: 104701582-G> C, cDNA level c.217 G> C , notation at the p protein level (Gly73Arg). Genotype record according to Human Genome Variation Society: NM_022489.4: c. [217G> C]; [217 =]. The publication includes data on genetics, molecular mechanisms of the disease, diagnostic methods, rehabilitation and surgical treatment. Conclusion. CMT disease is a heterogeneous group of diseases caused by mutations in various genes. The incidence of this pathology has increased significantly in the last century. Currently, there are no treatments available to combat this disease, and symptomatic treatment is the only treatment available.
2
Publication available in full text mode
Content available

Sekwencjonowanie genomu/eksomu człowieka - aspekt bioetyczny

75%
Kochański A.
Studia Ecologiae et Bioethicae
|
2014
|
vol. 12
|
issue 1
29-38
EN
In recent years we have observed a technological revolution in genetics. For years molecular diagnostics in genetic disorders was limited to a single gene or to a group of genes. The technological breakdown in molecular genetics relies on the change of perspective from analysis of a single gene to the whole genome sequencing (WGS) or whole exome sequencing (WES). The exome is defined as a coding part of the genome consisting of the coding parts (exons) of all genes. Thus, at present geneticists have access to the whole genome instead of separate/selected genes. Clinical genetics in the era of genomic sequencing has to cope with new challenges concerning confidentiality of genetic data, genetic discrimination, genetic and clinical determinism or incidential findings detected in genome analysis. This short review attempts to demonstrate the ethical challenges faced in the era of genome sequencing.
first rewind previous Page / 1 next fast forward last
JavaScript is turned off in your web browser. Turn it on to take full advantage of this site, then refresh the page.