Savov AS - Search Results

1

APC promoter 1B deletion in familial polyposis--implications for mutation-negative families.

Kadiyska TK, Todorov TP, Bichev SN, Vazharova RV, Nossikoff AV, Savov AS, Mitev VI. Kadiyska TK, et al. Among authors: savov as. Clin Genet. 2014 May;85(5):452-7. doi: 10.1111/cge.12210. Epub 2013 Jun 24. Clin Genet. 2014. PMID: 23725351

2

Association Study between Idiopathic Scoliosis and Polymorphic Variants of VDR, IGF-1, and AMPD1 Genes.

Nikolova S, Yablanski V, Vlaev E, Stokov L, Savov AS, Kremensky IM. Nikolova S, et al. Among authors: savov as. Genet Res Int. 2015;2015:852196. doi: 10.1155/2015/852196. Epub 2015 Aug 25. Genet Res Int. 2015. PMID: 26380113 Free PMC article.

3

Screening for point mutations in the LDL receptor gene in Bulgarian patients with severe hypercholesterolemia.

Mihaylov VA, Horvath AD, Savov AS, Kurshelova EF, Paskaleva ID, Goudev AR, Stoilov IR, Ganev VS. Mihaylov VA, et al. Among authors: savov as. J Hum Genet. 2004;49(4):173-176. doi: 10.1007/s10038-004-0127-6. Epub 2004 Mar 10. J Hum Genet. 2004. PMID: 15015036

4

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. 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

5

Identification of 99% of CFTR gene mutations in Bulgarian-, Bulgarian Turk-, and Roma cystic fibrosis patients.

Petrova G, Yaneva N, Hrbková J, Libik M, Savov A, Macek M Jr. Petrova G, et al. Mol Genet Genomic Med. 2019 Aug;7(8):e696. doi: 10.1002/mgg3.696. Epub 2019 Jun 27. Mol Genet Genomic Med. 2019. PMID: 31245908 Free PMC article.

6

Intragenic Deletions in ATP7B as an Unusual Molecular Genetics Mechanism of Wilson's Disease Pathogenesis.

Todorov T, Balakrishnan P, Savov A, Socha P, Schmidt HH. Todorov T, et al. PLoS One. 2016 Dec 19;11(12):e0168372. doi: 10.1371/journal.pone.0168372. eCollection 2016. PLoS One. 2016. PMID: 27992490 Free PMC article.

7

A Novel SRY Gene Mutation p.F109L in a 46,XY Female with Complete Gonadal Dysgenesis.

Andonova S, Robeva R, Sirakov M, Mainhard K, Tomova A, Ledig S, Kumanov P, Savov A. Andonova S, et al. Sex Dev. 2015;9(6):333-7. doi: 10.1159/000443807. Epub 2016 Feb 13. Sex Dev. 2015. PMID: 26871559

8

New Territory for an Old Disease: 5-Alpha-Reductase Type 2 Deficiency in Bulgaria.

Andonova S, Robeva R, Vazharova R, Ledig S, Grozdanova L, Stefanova E, Bradinova I, Todorov T, Hadjidekov G, Sirakov M, Wieacker P, Kumanov P, Savov A. Andonova S, et al. Sex Dev. 2017;11(1):21-28. doi: 10.1159/000454974. Epub 2017 Jan 21. Sex Dev. 2017. PMID: 28110336

9

Association Study between Promoter Polymorphism of TPH1 and Progression of Idiopathic Scoliosis.

Yablanski V, Nikolova S, Vlaev E, Savov A, Kremensky I. Yablanski V, et al. J Biomark. 2016;2016:5318239. doi: 10.1155/2016/5318239. Epub 2016 May 16. J Biomark. 2016. PMID: 27293961 Free PMC article.

10

Epidermal growth factor receptor mutations in East European non-small cell lung cancer patients.

Bichev SN, Marinova DM, Slavova YG, Savov AS. Bichev SN, et al. Among authors: savov as. Cell Oncol (Dordr). 2015 Apr;38(2):145-53. doi: 10.1007/s13402-014-0211-7. Epub 2014 Dec 23. Cell Oncol (Dordr). 2015. PMID: 25534657

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