Role of Electrophysiologal Studies for Detection of Simulation and Aggravation in Ophthalmology

Autor: Mermeklieva E.

Publikováno v: Acta Medica Bulgarica, Vol 50, Iss 4, Pp 47-54 (2023)

To present the importance of the electrophysiological studies for detection of malingering and aggravation in ophthalmology.

Externí odkaz: https://doaj.org/article/f2748f7617714b15a1a49b9ea2f2051e

A Rare Case of Juvenile X-Linked Retinoschisis

Autor: Mermeklieva E., Vasileva P.

Publikováno v: Acta Medica Bulgarica, Vol 48, Iss 4, Pp 28-32 (2021)

Aim: To present a rare clinical case of X-linked retinoschisis, confirmed clinically, electrophysiologically and genetically.

Externí odkaz: https://doaj.org/article/54a8a169295b44baabd37a0a0201a572

Panel-based next-generation sequencing identifies novel mutations in Bulgarian patients with inherited retinal dystrophies.

Autor: Kamenarova K; Molecular Medicine Center, Department of Medical Chemistry and Biochemistry, Medical Faculty, Medical University of Sofia, Sofia, Bulgaria.; Laboratory of Genomic Diagnostics, Department of Medical Chemistry and Biochemistry, Medical Faculty, Medical University of Sofia, Sofia, Bulgaria., Mihova K; Molecular Medicine Center, Department of Medical Chemistry and Biochemistry, Medical Faculty, Medical University of Sofia, Sofia, Bulgaria.; Laboratory of Genomic Diagnostics, Department of Medical Chemistry and Biochemistry, Medical Faculty, Medical University of Sofia, Sofia, Bulgaria., Veleva N; Department of Ophthalmology, University Hospital 'Alexandrovska', Medical University of Sofia, Sofia, Bulgaria., Mermeklieva E; Clinic of Ophthalmology, University Hospital 'Lozenetz', Medical Faculty, Sofia University 'St. Kliment Ohridski', Sofia, Bulgaria., Mihaylova B; Clinic 'Vision', Sofia, Bulgaria., Dimitrova G; Department of Ophthalmology, University Hospital 'Alexandrovska', Medical University of Sofia, Sofia, Bulgaria., Oscar A; Department of Ophthalmology, University Hospital 'Alexandrovska', Medical University of Sofia, Sofia, Bulgaria., Shandurkov I; Clinic 'Vision', Sofia, Bulgaria., Cherninkova S; Department of Neurology, University hospital 'Alexandrovska', Medical University of Sofia, Sofia, Bulgaria., Kaneva R; Molecular Medicine Center, Department of Medical Chemistry and Biochemistry, Medical Faculty, Medical University of Sofia, Sofia, Bulgaria.; Laboratory of Genomic Diagnostics, Department of Medical Chemistry and Biochemistry, Medical Faculty, Medical University of Sofia, Sofia, Bulgaria.

Publikováno v: Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2022 Aug; Vol. 10 (8), pp. e1997. Date of Electronic Publication: 2022 Jun 03.

A rare case of RGR/CDHR1 haplotype identified in Bulgarian patient with cone-rod dystrophy.

Autor: Mermeklieva E; Clinic of Оphthalmology, 'Lozenetz' University Hospital, Medical Faculty, Sofia University 'St. Kliment Ohridski', Sofia, Bulgaria., Kamenarova K; Molecular Medicine Center, Department of Medical Chemistry and Biochemistry, Medical Faculty, Medical University - Sofia, Sofia, Bulgaria., Mihova K; Molecular Medicine Center, Department of Medical Chemistry and Biochemistry, Medical Faculty, Medical University - Sofia, Sofia, Bulgaria., Shakola F; Molecular Medicine Center, Department of Medical Chemistry and Biochemistry, Medical Faculty, Medical University - Sofia, Sofia, Bulgaria., Kaneva R; Molecular Medicine Center, Department of Medical Chemistry and Biochemistry, Medical Faculty, Medical University - Sofia, Sofia, Bulgaria.

Publikováno v: Ophthalmic genetics [Ophthalmic Genet] 2021 Dec; Vol. 42 (6), pp. 747-752. Date of Electronic Publication: 2021 Jul 06.

Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.