Zilina O - Search Results

1

An 8.4-Mb 3q26.33-3q28 microdeletion in a patient with blepharophimosis-intellectual disability syndrome and a review of the literature.

Õunap K, Pajusalu S, Zilina O, Reimand T, Žordania R. Õunap K, et al. Among authors: zilina o. Clin Case Rep. 2016 Jul 22;4(8):824-30. doi: 10.1002/ccr3.632. eCollection 2016 Aug. Clin Case Rep. 2016. PMID: 27525095 Free PMC article.

2

Patient with dup(5)(q35.2-q35.3) reciprocal to the common Sotos syndrome deletion and review of the literature.

Žilina O, Reimand T, Tammur P, Tillmann V, Kurg A, Õunap K. Žilina O, et al. Eur J Med Genet. 2013 Apr;56(4):202-6. doi: 10.1016/j.ejmg.2013.01.008. Epub 2013 Jan 28. Eur J Med Genet. 2013. PMID: 23369838 Review.

3

Monosomy 1p36 - a multifaceted and still enigmatic syndrome: four clinically diverse cases with shared white matter abnormalities.

Õiglane-Shlik E, Puusepp S, Talvik I, Vaher U, Rein R, Tammur P, Reimand T, Teek R, Žilina O, Tomberg T, Õunap K. Õiglane-Shlik E, et al. Among authors: zilina o. Eur J Paediatr Neurol. 2014 May;18(3):338-46. doi: 10.1016/j.ejpn.2014.01.008. Epub 2014 Jan 25. Eur J Paediatr Neurol. 2014. PMID: 24529875

4

De novo deletion of HOXB gene cluster in a patient with failure to thrive, developmental delay, gastroesophageal reflux and bronchiectasis.

Pajusalu S, Reimand T, Uibo O, Vasar M, Talvik I, Zilina O, Tammur P, Õunap K. Pajusalu S, et al. Among authors: zilina o. Eur J Med Genet. 2015 Jun-Jul;58(6-7):336-40. doi: 10.1016/j.ejmg.2015.04.002. Epub 2015 Apr 20. Eur J Med Genet. 2015. PMID: 25907420

5

A New Case of a Rare Combination of Temple Syndrome and Mosaic Trisomy 14 and a Literature Review.

Yakoreva M, Kahre T, Pajusalu S, Ilisson P, Žilina O, Tillmann V, Reimand T, Õunap K. Yakoreva M, et al. Among authors: zilina o. Mol Syndromol. 2018 Jul;9(4):182-189. doi: 10.1159/000489446. Epub 2018 May 18. Mol Syndromol. 2018. PMID: 30181735 Free PMC article.

6

Chromosomal microarray analysis as a first-tier clinical diagnostic test: Estonian experience.

Zilina O, Teek R, Tammur P, Kuuse K, Yakoreva M, Vaidla E, Mölter-Väär T, Reimand T, Kurg A, Ounap K. Zilina O, et al. Mol Genet Genomic Med. 2014 Mar;2(2):166-75. doi: 10.1002/mgg3.57. Epub 2014 Jan 9. Mol Genet Genomic Med. 2014. PMID: 24689080 Free PMC article.

7

Two familial microduplications of 15q26.3 causing overgrowth and variable intellectual disability with normal copy number of IGF1R.

Leffler M, Puusepp S, Žilina O, Zhu Y, Kuuse K, Bain N, Burgess T, Õunap K, Field M. Leffler M, et al. Among authors: zilina o. Eur J Med Genet. 2016 Apr;59(4):257-62. doi: 10.1016/j.ejmg.2015.12.002. Epub 2015 Dec 12. Eur J Med Genet. 2016. PMID: 26689622

8

The Diagnostic Utility of Single Long Contiguous Stretches of Homozygosity in Patients without Parental Consanguinity.

Pajusalu S, Žilina O, Yakoreva M, Tammur P, Kuuse K, Mölter-Väär T, Nõukas M, Reimand T, Õunap K. Pajusalu S, et al. Among authors: zilina o. Mol Syndromol. 2015 Sep;6(3):135-40. doi: 10.1159/000438776. Epub 2015 Aug 15. Mol Syndromol. 2015. PMID: 26733775 Free PMC article.

9

Maternally and paternally inherited deletion of 7q31 involving the FOXP2 gene in two families.

Zilina O, Reimand T, Zjablovskaja P, Männik K, Männamaa M, Traat A, Puusepp-Benazzouz H, Kurg A, Ounap K. Zilina O, et al. Am J Med Genet A. 2012 Jan;158A(1):254-6. doi: 10.1002/ajmg.a.34378. Epub 2011 Nov 21. Am J Med Genet A. 2012. PMID: 22105961 No abstract available.

10

Whole Xp Deletion in a Girl with Mental Retardation, Epilepsy, and Biochemical Features of OTC Deficiency.

Joost K, Tammur P, Teek R, Zilina O, Peters M, Kreile M, Lace B, Zordania R, Talvik I, Ounap K. Joost K, et al. Among authors: zilina o. Mol Syndromol. 2011 Sep;1(6):311-315. doi: 10.1159/000331323. Epub 2011 Sep 14. Mol Syndromol. 2011. PMID: 22190902 Free PMC article.

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