Publications by authors named "Olga Žilina"

22Publications

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

Mol Syndromol 2018 Jul 18;9(4):182-189. Epub 2018 May 18.

Department of Clinical Genetics, United Laboratories, University of Tartu, Tartu, Estonia.

View Article

Download full-text PDF

Source
https://www.karger.com/Article/FullText/489446
Publisher Site
http://dx.doi.org/10.1159/000489446DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6117659PMC
July 2018

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

Clin Case Rep 2016 08 22;4(8):824-30. Epub 2016 Jul 22.

Department of Genetics United Laboratories Tartu University Hospital Tartu Estonia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ccr3.632DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4974439PMC
August 2016

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

Mol Syndromol 2015 Sep 15;6(3):135-40. Epub 2015 Aug 15.

Department of Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia; Department of Pediatrics, University of Tartu, Tartu, Estonia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1159/000438776DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4698626PMC
September 2015

Familial 1.3-Mb 11p15.5p15.4 Duplication in Three Generations Causing Silver-Russell and Beckwith-Wiedemann Syndromes.

Mol Syndromol 2015 Sep 24;6(3):147-51. Epub 2015 Jul 24.

Department of Genetics, Tartu University Hospital, Tartu, Estonia; Department of Pediatrics, Institute of Molecular and Cell Biology, University of Tartu, Tartu, Estonia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1159/000437061DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4698645PMC
September 2015

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

Eur J Med Genet 2016 Apr 12;59(4):257-62. Epub 2015 Dec 12.

Genetics of Learning Disability Service, Hunter Genetics, Waratah, Australia. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejmg.2015.12.002DOI Listing
April 2016

Somatic mosaicism for copy-neutral loss of heterozygosity and DNA copy number variations in the human genome.

BMC Genomics 2015 Sep 16;16:703. Epub 2015 Sep 16.

Competence Centre on Health Technologies, Tiigi 61b, 50410, Tartu, Estonia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s12864-015-1916-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4573927PMC
September 2015

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

Eur J Med Genet 2015 Jun-Jul;58(6-7):336-40. Epub 2015 Apr 20.

Department of Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia; Department of Paediatrics, University of Tartu, Tartu, Estonia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejmg.2015.04.002DOI Listing
March 2016

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

Eur J Med Genet 2014 May-Jun;57(6):279-83. Epub 2014 Apr 2.

Department of Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia; Department of Pediatrics, University of Tartu, Tartu, Estonia. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejmg.2014.03.007DOI Listing
February 2015

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

Mol Genet Genomic Med 2014 Mar 9;2(2):166-75. Epub 2014 Jan 9.

Department of Genetics, United Laboratories, Tartu University Hospital Tartu, Estonia ; Department of Pediatrics, University of Tartu Tartu, Estonia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/mgg3.57DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3960059PMC
March 2014

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

Eur J Paediatr Neurol 2014 May 25;18(3):338-46. Epub 2014 Jan 25.

Department of Pediatrics, Faculty of Medicine, University of Tartu, Tartu, Estonia; Department of Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejpn.2014.01.008DOI Listing
May 2014

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

Eur J Med Genet 2013 Apr 28;56(4):202-6. Epub 2013 Jan 28.

Department of Biotechnology, Institute of Molecular and Cell Biology, University of Tartu, 23 Riia Street, 51010 Tartu, Estonia.

View Article

Download full-text PDF

Source
http://linkinghub.elsevier.com/retrieve/pii/S176972121300026
Publisher Site
http://dx.doi.org/10.1016/j.ejmg.2013.01.008DOI Listing
April 2013

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

J Appl Genet 2012 Feb 29;53(1):93-7. Epub 2011 Nov 29.

Department of Human Biology and Genetics, Institute of General and Molecular Pathology, University of Tartu, Ravila 19, Tartu, Estonia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s13353-011-0078-5DOI Listing
February 2012

Array-MAPH: a methodology for the detection of locus copy-number changes in complex genomes.

Nat Protoc 2008 ;3(5):849-65

Department of Cytogenetics, The Cyprus Institute of Neurology & Genetics, Nicosia, Cyprus.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/nprot.2008.49DOI Listing
August 2008

Detection of small genomic imbalances using microarray-based multiplex amplifiable probe hybridization.

Eur J Hum Genet 2007 Feb 22;15(2):162-72. Epub 2006 Nov 22.

Department of Cytogenetics, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/sj.ejhg.5201738DOI Listing
February 2007