Kaneva R - Search Results

1

Left ventricle non-compaction with a dilative phenotype and novel genetic mutations.

Shumkova M, Vassilev D, Karamfiloff K, Ivanova R, Yaneva-Sirakova T, Stoyanova K, Boneva T, Kaneva R, Gil RJ. Shumkova M, et al. Among authors: kaneva r. Kardiol Pol. 2021;79(6):716-717. doi: 10.33963/KP.15965. Epub 2021 May 20. Kardiol Pol. 2021. PMID: 33890751 Free article. No abstract available.

2

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

Kamenarova K, Mihova K, Veleva N, Mermeklieva E, Mihaylova B, Dimitrova G, Oscar A, Shandurkov I, Cherninkova S, Kaneva R. Kamenarova K, et al. Among authors: kaneva r. Mol Genet Genomic Med. 2022 Aug;10(8):e1997. doi: 10.1002/mgg3.1997. Epub 2022 Jun 3. Mol Genet Genomic Med. 2022. PMID: 35656873 Free PMC article.

3

Autosomal-recessive congenital cerebellar ataxia is caused by mutations in metabotropic glutamate receptor 1.

Guergueltcheva V, Azmanov DN, Angelicheva D, Smith KR, Chamova T, Florez L, Bynevelt M, Nguyen T, Cherninkova S, Bojinova V, Kaprelyan A, Angelova L, Morar B, Chandler D, Kaneva R, Bahlo M, Tournev I, Kalaydjieva L. Guergueltcheva V, et al. Among authors: kaneva r. Am J Hum Genet. 2012 Sep 7;91(3):553-64. doi: 10.1016/j.ajhg.2012.07.019. Epub 2012 Aug 16. Am J Hum Genet. 2012. PMID: 22901947 Free PMC article.

4

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

Mermeklieva E, Kamenarova K, Mihova K, Shakola F, Kaneva R. Mermeklieva E, et al. Among authors: kaneva r. Ophthalmic Genet. 2021 Dec;42(6):747-752. doi: 10.1080/13816810.2021.1946700. Epub 2021 Jul 6. Ophthalmic Genet. 2021. PMID: 34229535

5

SCN1A mutation spectrum in a cohort of Bulgarian patients with GEFS+ phenotype.

Peycheva V, Ivanova N, Kamenarova K, Panova M, Pacheva I, Ivanov I, Bojidarova M, Tacheva G, Stamatov D, Litvinenko I, Hristova D, Deneva D, Rodopska E, Slavkova E, Aleksandrova I, Simeonov E, Dimova P, Bojinova V, Mitev V, Jordanova A, Kaneva R. Peycheva V, et al. Among authors: kaneva r. Turk J Pediatr. 2020;62(5):711-725. doi: 10.24953/turkjped.2020.05.002. Turk J Pediatr. 2020. PMID: 33108073 Free article.

6

A pilot study reveals the potential of miR-31-3p and miR-196a-5p as non-invasive biomarkers in advanced laryngeal cancer.

Kyurkchiyan SG, Popov TM, Shakola F, Rangachev J, Mitev VI, Kaneva R. Kyurkchiyan SG, et al. Among authors: kaneva r. Folia Med (Plovdiv). 2021 Jun 30;63(3):355-364. doi: 10.3897/folmed.63.e55346. Folia Med (Plovdiv). 2021. PMID: 34196150

7

Acenocoumarol Pharmacogenetic Dosing Algorithms and Their Application in Two Bulgarian Patients with Low Anticoagulant Requirements.

Dimitrova-Karamfilova A, Tzveova R, Chilingirova N, Goranova T, Nachev G, Mitev V, Kaneva R. Dimitrova-Karamfilova A, et al. Among authors: kaneva r. Biochem Genet. 2015 Dec;53(11-12):334-50. doi: 10.1007/s10528-015-9695-8. Epub 2015 Sep 16. Biochem Genet. 2015. PMID: 26377995

8

Gender-Specific Effect of CYP2C8*3 on the Risk of Essential Hypertension in Bulgarian Patients.

Tzveova R, Naydenova G, Yaneva T, Dimitrov G, Vandeva S, Matrozova Y, Pendicheva-Duhlenska D, Popov I, Beltheva O, Naydenov C, Tarnovska-Kadreva R, Nachev G, Mitev V, Kaneva R. Tzveova R, et al. Among authors: kaneva r. Biochem Genet. 2015 Dec;53(11-12):319-33. doi: 10.1007/s10528-015-9696-7. Epub 2015 Sep 24. Biochem Genet. 2015. PMID: 26404779

9

Identification of a novel de novo mutation of CREBBP in a patient with Rubinstein-Taybi syndrome by targeted next-generation sequencing: a case report.

Kamenarova K, Simeonov E, Tzveova R, Dacheva D, Penkov M, Kremensky I, Perenovska P, Mitev V, Kaneva R. Kamenarova K, et al. Among authors: kaneva r. Hum Pathol. 2016 Jan;47(1):144-9. doi: 10.1016/j.humpath.2015.09.004. Epub 2015 Sep 25. Hum Pathol. 2016. PMID: 26603346

10

Steroid-resistant nephrotic syndrome caused by novel WT1 mutation inherited from a mosaic parent.

Beltcheva O, Boueva A, Tzveova R, Roussinov D, Marinova S, Kaneva R, Mitev V. Beltcheva O, et al. Among authors: kaneva r. Ren Fail. 2016;38(2):290-3. doi: 10.3109/0886022X.2015.1117906. Epub 2015 Dec 1. Ren Fail. 2016. PMID: 26627896 Free article.

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