Karolak JA - Search Results

1

KTCNlncDB-a first platform to investigate lncRNAs expressed in human keratoconus and non-keratoconus corneas.

Szczesniak MW, Kabza M, Karolak JA, Rydzanicz M, Nowak DM, Ginter-Matuszewska B, Polakowski P, Ploski R, Szaflik JP, Gajecka M. Szczesniak MW, et al. Among authors: karolak ja. Database (Oxford). 2017 Jan 10;2017:baw168. doi: 10.1093/database/baw168. Print 2017. Database (Oxford). 2017. PMID: 28077570 Free PMC article.

2

Sequence variants in COL4A1 and COL4A2 genes in Ecuadorian families with keratoconus.

Karolak JA, Kulinska K, Nowak DM, Pitarque JA, Molinari A, Rydzanicz M, Bejjani BA, Gajecka M. Karolak JA, et al. Mol Vis. 2011 Mar 30;17:827-43. Mol Vis. 2011. PMID: 21527998 Free PMC article.

3

Deletions and duplications of developmental pathway genes in 5q31 contribute to abnormal phenotypes.

Rosenfeld JA, Drautz JM, Clericuzio CL, Cushing T, Raskin S, Martin J, Tervo RC, Pitarque JA, Nowak DM, Karolak JA, Lamb AN, Schultz RA, Ballif BC, Bejjani BA, Gajecka M, Shaffer LG. Rosenfeld JA, et al. Among authors: karolak ja. Am J Med Genet A. 2011 Aug;155A(8):1906-16. doi: 10.1002/ajmg.a.34100. Epub 2011 Jul 8. Am J Med Genet A. 2011. PMID: 21744490

4

IGF-1 gene polymorphisms in Polish families with high-grade myopia.

Rydzanicz M, Nowak DM, Karolak JA, Frajdenberg A, Podfigurna-Musielak M, Mrugacz M, Gajecka M. Rydzanicz M, et al. Among authors: karolak ja. Mol Vis. 2011;17:2428-39. Epub 2011 Sep 21. Mol Vis. 2011. PMID: 21976954 Free PMC article.

5

Novel mutation and three other sequence variants segregating with phenotype at keratoconus 13q32 susceptibility locus.

Czugala M, Karolak JA, Nowak DM, Polakowski P, Pitarque J, Molinari A, Rydzanicz M, Bejjani BA, Yue BY, Szaflik JP, Gajecka M. Czugala M, et al. Among authors: karolak ja. Eur J Hum Genet. 2012 Apr;20(4):389-97. doi: 10.1038/ejhg.2011.203. Epub 2011 Nov 2. Eur J Hum Genet. 2012. PMID: 22045297 Free PMC article.

6

Substitution at IL1RN and deletion at SLC4A11 segregating with phenotype in familial keratoconus.

Nowak DM, Karolak JA, Kubiak J, Gut M, Pitarque JA, Molinari A, Bejjani BA, Gajecka M. Nowak DM, et al. Among authors: karolak ja. Invest Ophthalmol Vis Sci. 2013 Mar 1;54(3):2207-15. doi: 10.1167/iovs.13-11592. Invest Ophthalmol Vis Sci. 2013. PMID: 23462747

7

Molecular Screening of Keratoconus Susceptibility Sequence Variants in VSX1, TGFBI, DOCK9, STK24, and IPO5 Genes in Polish Patients and Novel TGFBI Variant Identification.

Karolak JA, Polakowski P, Szaflik J, Szaflik JP, Gajecka M. Karolak JA, et al. Ophthalmic Genet. 2016;37(1):37-43. doi: 10.3109/13816810.2014.926375. Epub 2014 Jun 18. Ophthalmic Genet. 2016. PMID: 24940934

8

Variant c.2262A>C in DOCK9 Leads to Exon Skipping in Keratoconus Family.

Karolak JA, Rydzanicz M, Ginter-Matuszewska B, Pitarque JA, Molinari A, Bejjani BA, Gajecka M. Karolak JA, et al. Invest Ophthalmol Vis Sci. 2015 Dec;56(13):7687-90. doi: 10.1167/iovs.15-17538. Invest Ophthalmol Vis Sci. 2015. PMID: 26641546

9

Evidence against ZNF469 being causative for keratoconus in Polish patients.

Karolak JA, Gambin T, Rydzanicz M, Szaflik JP, Polakowski P, Frajdenberg A, Mrugacz M, Podfigurna-Musielak M, Stankiewicz P, Gajecka M. Karolak JA, et al. Acta Ophthalmol. 2016 May;94(3):289-94. doi: 10.1111/aos.12968. Epub 2016 Jan 25. Acta Ophthalmol. 2016. PMID: 26806788 Free article.

10

Variants in SKP1, PROB1, and IL17B genes at keratoconus 5q31.1-q35.3 susceptibility locus identified by whole-exome sequencing.

Karolak JA, Gambin T, Pitarque JA, Molinari A, Jhangiani S, Stankiewicz P, Lupski JR, Gajecka M. Karolak JA, et al. Eur J Hum Genet. 2017 Jan;25(1):73-78. doi: 10.1038/ejhg.2016.130. Epub 2016 Oct 5. Eur J Hum Genet. 2017. PMID: 27703147 Free PMC article.

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