Vazharova R - Search Results

1

Centenarian Exomes as a Tool for Evaluating the Clinical Relevance of Germline Tumor Suppressor Mutations.

Balabanski L, Serbezov D, Nikolova D, Antonova O, Nesheva D, Hammoudeh Z, Vazharova R, Karachanak-Yankova S, Staneva R, Mihaylova M, Damyanova V, Hadjidekova S, Toncheva D. Balabanski L, et al. Among authors: vazharova r. Technol Cancer Res Treat. 2020 Jan-Dec;19:1533033820911082. doi: 10.1177/1533033820911082. Technol Cancer Res Treat. 2020. PMID: 32233832 Free PMC article.

2

Introduction of the QF-PCR analysis for the purposes of prenatal diagnosis in Bulgaria--estimation of applicability of 6 STR markers on chromosomes 21 and 18.

Andonova S, Vazharova R, Dimitrova V, Mazneikova V, Toncheva D, Kremensky I. Andonova S, et al. Among authors: vazharova r. Prenat Diagn. 2004 Mar;24(3):202-8. doi: 10.1002/pd.820. Prenat Diagn. 2004. PMID: 15057954

3

Whole-genome-wide association study in the Bulgarian population reveals HHAT as schizophrenia susceptibility gene.

Betcheva ET, Yosifova AG, Mushiroda T, Kubo M, Takahashi A, Karachanak SK, Zaharieva IT, Hadjidekova SP, Dimova II, Vazharova RV, Stoyanov DS, Milanova VK, Tolev T, Kirov G, Kamatani N, Toncheva DI, Nakamura Y. Betcheva ET, et al. Psychiatr Genet. 2013 Feb;23(1):11-9. doi: 10.1097/YPG.0b013e3283586343. Psychiatr Genet. 2013. PMID: 23142968

4

NGS nominated CELA1, HSPG2, and KCNK5 as candidate genes for predisposition to Balkan endemic nephropathy.

Toncheva D, Mihailova-Hristova M, Vazharova R, Staneva R, Karachanak S, Dimitrov P, Simeonov V, Ivanov S, Balabanski L, Serbezov D, Malinov M, Stefanovic V, Čukuranović R, Polenakovic M, Jankovic-Velickovic L, Djordjevic V, Jevtovic-Stoimenov T, Plaseska-Karanfilska D, Galabov A, Djonov V, Dimova I. Toncheva D, et al. Among authors: vazharova r. Biomed Res Int. 2014;2014:920723. doi: 10.1155/2014/920723. Epub 2014 May 15. Biomed Res Int. 2014. PMID: 24949484 Free PMC article.

5

Novel Hypomorphic Mutation in FANCD2 Gene Observed in a Fetus with Multiple Congenital Anomalies.

Vazharova R, Vragaleva S, Dimitrova V, Ivanov S, Balabanski L, Malinov M, Toncheva D. Vazharova R, et al. Case Rep Obstet Gynecol. 2016;2016:1462818. doi: 10.1155/2016/1462818. Epub 2016 Aug 23. Case Rep Obstet Gynecol. 2016. PMID: 27642530 Free PMC article.

6

Long-term follow-up of a female patient with non-classical 11β-hydroxylase deficiency and two novel mutations in CYP11B1.

Zacharieva S, Robeva R, Andonova S, Vazharova R, Balabanski L, Atanasoska M, Toncheva D, Elenkova A, Savov A. Zacharieva S, et al. Among authors: vazharova r. Gynecol Endocrinol. 2019 Jan;35(1):23-27. doi: 10.1080/09513590.2018.1482870. Epub 2018 Jun 17. Gynecol Endocrinol. 2019. PMID: 29909741

7

Clinical impact of copy number variation changes in bladder cancer samples.

Spasova V, Mladenov B, Rangelov S, Hammoudeh Z, Nesheva D, Serbezov D, Staneva R, Hadjidekova S, Ganev M, Balabanski L, Vazharova R, Slavov C, Toncheva D, Antonova O. Spasova V, et al. Among authors: vazharova r. Exp Ther Med. 2021 Aug;22(2):901. doi: 10.3892/etm.2021.10333. Epub 2021 Jun 24. Exp Ther Med. 2021. PMID: 34257714 Free PMC article.

8

Spinal muscular atrophy with congenital bone fractures 2 caused by a rare loss-of-function ASCC1 gene mutation in two Bulgarian Roma patients.

Bradinova I, Andonova S, Vazharova R, Tomova S, Balabanski L, Savov A. Bradinova I, et al. Among authors: vazharova r. Clin Genet. 2022 Jul;102(1):78-79. doi: 10.1111/cge.14130. Epub 2022 Mar 26. Clin Genet. 2022. PMID: 35338657 No abstract available.

9

Dopa-responsive dystonia in Bulgarian patients: report of three cases.

Atanasoska M, Vazharova R, Stevanović G, Bradinova I, Staykova SY, Balabanski L, Mircheva D, Avdjieva-Tzavella D, Toncheva D. Atanasoska M, et al. Among authors: vazharova r. Eur J Hum Genet. 2023 May 10. doi: 10.1038/s41431-023-01370-4. Online ahead of print. Eur J Hum Genet. 2023. PMID: 37165102 No abstract available.

10

Case-control association study of 59 candidate genes reveals the DRD2 SNP rs6277 (C957T) as the only susceptibility factor for schizophrenia in the Bulgarian population.

Betcheva ET, Mushiroda T, Takahashi A, Kubo M, Karachanak SK, Zaharieva IT, Vazharova RV, Dimova II, Milanova VK, Tolev T, Kirov G, Owen MJ, O'Donovan MC, Kamatani N, Nakamura Y, Toncheva DI. Betcheva ET, et al. J Hum Genet. 2009 Feb;54(2):98-107. doi: 10.1038/jhg.2008.14. Epub 2009 Jan 16. J Hum Genet. 2009. PMID: 19158809

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