Kamenarova K - Search Results

1

Human iPSC derived disease model of MERTK-associated retinitis pigmentosa.

Lukovic D, Artero Castro A, Delgado AB, Bernal Mde L, Luna Pelaez N, Díez Lloret A, Perez Espejo R, Kamenarova K, Fernández Sánchez L, Cuenca N, Cortón M, Avila Fernandez A, Sorkio A, Skottman H, Ayuso C, Erceg S, Bhattacharya SS. Lukovic D, et al. Among authors: kamenarova k. Sci Rep. 2015 Aug 11;5:12910. doi: 10.1038/srep12910. Sci Rep. 2015. PMID: 26263531 Free PMC article.

2

Novel GUCA1A mutations suggesting possible mechanisms of pathogenesis in cone, cone-rod, and macular dystrophy patients.

Kamenarova K, Corton M, García-Sandoval B, Fernández-San Jose P, Panchev V, Avila-Fernández A, López-Molina MI, Chakarova C, Ayuso C, Bhattacharya SS. Kamenarova K, et al. Biomed Res Int. 2013;2013:517570. doi: 10.1155/2013/517570. Epub 2013 Aug 14. Biomed Res Int. 2013. PMID: 24024198 Free PMC article.

3

Generation of a human iPSC line from a patient with congenital glaucoma caused by mutation in CYP1B1 gene.

Bolinches-Amorós A, Lukovic D, Castro AA, León M, Kamenarova K, Kaneva R, Jendelova P, Blanco-Kelly F, Ayuso C, Cortón M, Erceg S. Bolinches-Amorós A, et al. Among authors: kamenarova k. Stem Cell Res. 2018 Apr;28:96-99. doi: 10.1016/j.scr.2018.01.004. Epub 2018 Jan 4. Stem Cell Res. 2018. PMID: 29453128 Free article.

4

Genotype and Phenotype Studies in Autosomal Dominant Retinitis Pigmentosa (adRP) of the French Canadian Founder Population.

Coussa RG, Chakarova C, Ajlan R, Taha M, Kavalec C, Gomolin J, Khan A, Lopez I, Ren H, Waseem N, Kamenarova K, Bhattacharya SS, Koenekoop RK. Coussa RG, et al. Among authors: kamenarova k. Invest Ophthalmol Vis Sci. 2015 Dec;56(13):8297-305. doi: 10.1167/iovs.15-17104. Invest Ophthalmol Vis Sci. 2015. PMID: 26720483 Free PMC article.

5

A novel locus for autosomal dominant cone-rod dystrophy maps to chromosome 10q.

Kamenarova K, Cherninkova S, Romero Durán M, Prescott D, Valdés Sánchez ML, Mitev V, Kremensky I, Kaneva R, Bhattacharya SS, Tournev I, Chakarova C. Kamenarova K, et al. Eur J Hum Genet. 2013 Mar;21(3):338-42. doi: 10.1038/ejhg.2012.158. Epub 2012 Aug 29. Eur J Hum Genet. 2013. PMID: 22929024 Free PMC article.

6

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. 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

7

A familial case of severe infantile nephronophthisis explained by oligogenic inheritance.

Penchev V, Boueva A, Kamenarova K, Roussinov D, Tzveova R, Ivanova M, Dimitrova V, Kremensky I, Mitev V, Kaneva R, Beltcheva O. Penchev V, et al. Among authors: kamenarova k. Eur J Med Genet. 2017 Jun;60(6):321-325. doi: 10.1016/j.ejmg.2017.04.002. Epub 2017 Apr 6. Eur J Med Genet. 2017. PMID: 28392475

8

Genetic heterogeneity and minor CYP1B1 involvement in the molecular basis of primary congenital glaucoma in Gypsies.

Sivadorai P, Cherninkova S, Bouwer S, Kamenarova K, Angelicheva D, Seeman P, Hollingsworth K, Mihaylova V, Oscar A, Dimitrova G, Kaneva R, Tournev I, Kalaydjieva L. Sivadorai P, et al. Among authors: kamenarova k. Clin Genet. 2008 Jul;74(1):82-7. doi: 10.1111/j.1399-0004.2008.01024.x. Epub 2008 Jun 5. Clin Genet. 2008. PMID: 18537981

9

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: kamenarova k. Ophthalmic Genet. 2021 Dec;42(6):747-752. doi: 10.1080/13816810.2021.1946700. Epub 2021 Jul 6. Ophthalmic Genet. 2021. PMID: 34229535

10

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. 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.

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