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Variants in SKP1, PROB1, and IL17B genes at keratoconus 5q31.1-q35.3 susceptibility locus identified by whole-exome sequencing.
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.
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: pitarque j.
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.
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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. Among authors: pitarque ja.
Mol Vis. 2011 Mar 30;17:827-43.
Mol Vis. 2011.
PMID: 21527998
Free PMC article.
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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: pitarque 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
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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. Among authors: pitarque ja.
Invest Ophthalmol Vis Sci. 2015 Dec;56(13):7687-90. doi: 10.1167/iovs.15-17538.
Invest Ophthalmol Vis Sci. 2015.
PMID: 26641546
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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: pitarque 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
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Localization of a gene for keratoconus to a 5.6-Mb interval on 13q32.
Gajecka M, Radhakrishna U, Winters D, Nath SK, Rydzanicz M, Ratnamala U, Ewing K, Molinari A, Pitarque JA, Lee K, Leal SM, Bejjani BA.
Gajecka M, et al. Among authors: pitarque ja.
Invest Ophthalmol Vis Sci. 2009 Apr;50(4):1531-9. doi: 10.1167/iovs.08-2173. Epub 2008 Nov 14.
Invest Ophthalmol Vis Sci. 2009.
PMID: 19011015
Free PMC article.
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