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X-linked ichthyosis: differential diagnosis of low maternal oestriol level.
Liaugaudienė O, Benušienė E, Domarkienė I, Ambrozaitytė L, Kučinskas V. Liaugaudienė O, et al. Among authors: kucinskas v. J Obstet Gynaecol. 2014 Nov;34(8):737-9. doi: 10.3109/01443615.2014.925857. Epub 2014 Jun 24. J Obstet Gynaecol. 2014. PMID: 24960317 Free article. Review. No abstract available.
A novel missense mutation in the NSDHL gene identified in a Lithuanian family by targeted next-generation sequencing causes CK syndrome.
Preiksaitiene E, Caro A, Benušienė E, Oltra S, Orellana C, Morkūnienė A, Roselló MP, Kasnauskiene J, Monfort S, Kučinskas V, Mayo S, Martinez F. Preiksaitiene E, et al. Among authors: kucinskas v. Am J Med Genet A. 2015 Jun;167(6):1342-8. doi: 10.1002/ajmg.a.36999. Epub 2015 Apr 21. Am J Med Genet A. 2015. PMID: 25900314
The high frequency of GJB2 gene mutation c.313_326del14 suggests its possible origin in ancestors of Lithuanian population.
Mikstiene V, Jakaitiene A, Byckova J, Gradauskiene E, Preiksaitiene E, Burnyte B, Tumiene B, Matuleviciene A, Ambrozaityte L, Uktveryte I, Domarkiene I, Rancelis T, Cimbalistiene L, Lesinskas E, Kucinskas V, Utkus A. Mikstiene V, et al. Among authors: kucinskas v. BMC Genet. 2016 Feb 19;17:45. doi: 10.1186/s12863-016-0354-9. BMC Genet. 2016. PMID: 26896187 Free PMC article.
CNV analysis in the Lithuanian population.
Urnikyte A, Domarkiene I, Stoma S, Ambrozaityte L, Uktveryte I, Meskiene R, Kasiulevičius V, Burokiene N, Kučinskas V. Urnikyte A, et al. Among authors: kucinskas v. BMC Genet. 2016 May 4;17(1):64. doi: 10.1186/s12863-016-0373-6. BMC Genet. 2016. PMID: 27142071 Free PMC article.
161 results