Mitev V - Search Results

1

Molecular-genetic diagnostics of von Hippel-Lindau syndrome (VHL) in Bulgaria: first complex mutation event in the VHL gene.

Glushkova M, Dimova P, Yordanova I, Todorov T, Tourtourikov I, Mitev V, Todorova A. Glushkova M, et al. Among authors: mitev v. Int J Neurosci. 2018 Feb;128(2):117-124. doi: 10.1080/00207454.2017.1372436. Epub 2017 Sep 13. Int J Neurosci. 2018. PMID: 28849724

2

First cases of pyridoxine-dependent epilepsy in Bulgaria: novel mutation in the ALDH7A1 gene.

Tincheva S, Todorov T, Todorova A, Georgieva R, Stamatov D, Yordanova I, Kadiyska T, Georgieva B, Bojidarova M, Tacheva G, Litvinenko I, Mitev V. Tincheva S, et al. Among authors: mitev v. Neurol Sci. 2015 Dec;36(12):2209-12. doi: 10.1007/s10072-015-2338-3. Epub 2015 Aug 1. Neurol Sci. 2015. PMID: 26232297

3

Molecular genetic diagnostics of tuberous sclerosis complex in Bulgaria: six novel mutations in the TSC1 and TSC2 genes.

Glushkova M, Bojinova V, Koleva M, Dimova P, Bojidarova M, Litvinenko I, Todorov T, Iluca E, Calusaru C, Neagu E, Craiu D, Mitev V, Todorova A. Glushkova M, et al. Among authors: mitev v. J Genet. 2018 Jun;97(2):419-427. J Genet. 2018. PMID: 29932062

4

Spontaneous recurrent mutations and a complex rearrangement in the MECP2 gene in the light of current models of mutagenesis.

Todorov T, Todorova A, Motoescu C, Dimova P, Iancu D, Craiu D, Stoian D, Barbarii L, Bojinova V, Mitev V. Todorov T, et al. Among authors: mitev v. Mutat Res. 2012 Jun 1;734(1-2):69-72. doi: 10.1016/j.mrfmmm.2012.04.001. Epub 2012 Apr 16. Mutat Res. 2012. PMID: 22525432

5

A novel PCDH19 mutation inherited from an unaffected mother.

Dimova PS, Kirov A, Todorova A, Todorov T, Mitev V. Dimova PS, et al. Among authors: mitev v. Pediatr Neurol. 2012 Jun;46(6):397-400. doi: 10.1016/j.pediatrneurol.2012.03.004. Pediatr Neurol. 2012. PMID: 22633638

6

15q13.3 microdeletions in a prospectively recruited cohort of patients with idiopathic generalized epilepsy in Bulgaria.

Kirov A, Dimova P, Todorova A, Mefford H, Todorov T, Saraylieva G, Bojinova V, Mitev V, Helbig I. Kirov A, et al. Among authors: mitev v. Epilepsy Res. 2013 May;104(3):241-5. doi: 10.1016/j.eplepsyres.2012.10.013. Epub 2013 Jan 23. Epilepsy Res. 2013. PMID: 23352738

7

One novel and one recurrent mutation in IGHMBP2 gene, causing severe spinal muscular atrophy respiratory distress 1 with onset soon after birth.

Litvinenko I, Kirov AV, Georgieva R, Todorov T, Malinova Z, Mitev V, Todorova A. Litvinenko I, et al. Among authors: mitev v. J Child Neurol. 2014 Jun;29(6):799-802. doi: 10.1177/0883073813477203. Epub 2013 Feb 28. J Child Neurol. 2014. PMID: 23449687

8

Molecular and clinico-histological data in aggressive prostate cancer patients from Bulgaria.

Tsvetkova A, Todorova A, Todorov T, Georgiev G, Drandarska I, Mitev V. Tsvetkova A, et al. Among authors: mitev v. J BUON. 2015 Mar-Apr;20(2):498-504. J BUON. 2015. PMID: 26011342 Free article.

9

Myotonia congenita type Becker in Bulgaria: First genetically proven cases and mutation screening of two presumable endemic regions.

Tincheva S, Georgieva B, Todorov T, Savov A, Tsaneva S, Litvinenko I, Mitev V, Todorova A. Tincheva S, et al. Among authors: mitev v. Neuromuscul Disord. 2016 Oct;26(10):675-680. doi: 10.1016/j.nmd.2016.08.001. Epub 2016 Aug 11. Neuromuscul Disord. 2016. PMID: 27614575

10

Monoallelic expression of the TTR gene as a contributor to the age at onset and penetrance of TTR-related amyloidosis.

Yordanova I, Pavlova Z, Kirov A, Todorov T, Alexiev A, Sarafov S, Mateva L, Chamova T, Gospodinova M, Mitev V, Tournev I, Todorova A. Yordanova I, et al. Among authors: mitev v. Gene. 2019 Jul 15;705:16-21. doi: 10.1016/j.gene.2019.04.030. Epub 2019 Apr 11. Gene. 2019. PMID: 30981840

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