Genetics
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Klinický exom v prenatální diagnostice – kazuistika
Klinický exom (CES) je metoda laboratorní diagnostiky vhodná pro prenatální i postnatální diagnostiku, a to především v případech, kdy máme jasný fenotyp, u kterého předpokládáme genetickou etiologii. Vyšetření může indikovat pouze klinický genetik s odborností 208. Následující kazuistika ilustruje možnosti jeho využití.
Nucleic Acid Amplification Tests in the Diagnosis of Sexually Transmitted Diseases
Based on 81 scientific papers published between 2010 and 2021, experts from Johns Hopkins…
How to Reduce the Risk of Venous Thromboembolism in Users of Combined Hormonal Contraceptives?
The use of combined oral contraceptives (COCs) is a known risk factor for thromboembolism.…
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Deficit dihydropyrimidine dehydrogenase and its association with 5-fluorouracil toxicity
Deficit dihydropyrimidine dehydrogenase (DPD) is a risk factor for severe toxicity of…
CYP Enzyme? Cytochrome P450 2D6 and Drug Metabolism
The CYP2D6 isoenzyme of cytochrome P450 participates in the metabolism of approximately 20% of...
Association of M2 Haplotype of the Annexin A5 Gene with Recurrent Reproductive Losses
Annexin A5 (ANXA5) is a placental anticoagulant protein that ensures adequate blood supply to…
Etiology of Recurrent Reproductive Losses – Focus on Genetics
Repeated pregnancy losses pose a significant threat to a woman's physical and mental health.…
Li-Fraumeni Syndrome – Indication for Testing and Recommended Surveillance
A germline mutation of the TP53 gene, which causes Li-Fraumeni syndrome, results in a congenital...
Genetic Testing in Clinical Practice – An Irreplaceable Tool in Prevention, Diagnosis and Treatment
Genetic testing has long ceased to be the privilege of clinical research. In practice, it is commonly...
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Interesting links
Most read on this topic
- Association of M2 Haplotype of the Annexin A5 Gene with Recurrent Reproductive Losses
- How to Reduce the Risk of Venous Thromboembolism in Users of Combined Hormonal Contraceptives?
- Genetic Testing in Clinical Practice – An Irreplaceable Tool in Prevention, Diagnosis and Treatment
- Deficit dihydropyrimidine dehydrogenase and its association with 5-fluorouracil toxicity
- Etiology of Recurrent Reproductive Losses – Focus on Genetics
- CYP Enzyme? Cytochrome P450 2D6 and Drug Metabolism
Interesting links