Zilina O - Search Results

1

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.

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

A parallel SNP array study of genomic aberrations associated with mental retardation in patients and general population in Estonia.

Männik K, Parkel S, Palta P, Zilina O, Puusepp H, Esko T, Mägi R, Nõukas M, Veidenberg A, Nelis M, Metspalu A, Remm M, Ounap K, Kurg A. Männik K, et al. Among authors: zilina o. Eur J Med Genet. 2011 Mar-Apr;54(2):136-43. doi: 10.1016/j.ejmg.2010.11.005. Epub 2010 Nov 26. Eur J Med Genet. 2011. PMID: 21112420

4

Balanced reciprocal translocation t(5;13)(q33;q12) and 9q31.1 microduplication in a man suffering from infertility and pollinosis.

Mikelsaar R, Nelis M, Kurg A, Zilina O, Korrovits P, Rätsep R, Väli M. Mikelsaar R, et al. Among authors: zilina o. J Appl Genet. 2012 Feb;53(1):93-7. doi: 10.1007/s13353-011-0078-5. Epub 2011 Nov 29. J Appl Genet. 2012. PMID: 22125161

5

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

6

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

7

5.9 Mb microdeletion in chromosome band 17q22-q23.2 associated with tracheo-esophageal fistula and conductive hearing loss.

Puusepp H, Zilina O, Teek R, Männik K, Parkel S, Kruustük K, Kuuse K, Kurg A, Ounap K. Puusepp H, et al. Among authors: zilina o. Eur J Med Genet. 2009 Jan-Feb;52(1):71-4. doi: 10.1016/j.ejmg.2008.09.006. Epub 2008 Oct 17. Eur J Med Genet. 2009. PMID: 18983945

8

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.

9

Mosaicism for maternal uniparental disomy 15 in a boy with some clinical features of Prader-Willi syndrome.

Zilina O, Kahre T, Talvik I, Oiglane-Shlik E, Tillmann V, Ounap K. Zilina O, et al. Eur J Med Genet. 2014 May-Jun;57(6):279-83. doi: 10.1016/j.ejmg.2014.03.007. Epub 2014 Apr 2. Eur J Med Genet. 2014. PMID: 24704109

10

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

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