Publications by authors named "Rita Teek"

11Publications

A retrospective analysis of the prevalence of imprinting disorders in Estonia from 1998 to 2016.

Authors:
Maria Yakoreva Tiina Kahre Riina Žordania Karit Reinson Rita Teek Vallo Tillmann Aleksandr Peet Eve Õiglane-Shlik Sander Pajusalu Ülle Murumets Mari-Anne Vals Pille Mee Monica H Wojcik Katrin Õunap

Eur J Hum Genet 2019 11 11;27(11):1649-1658. Epub 2019 Jun 11.

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

View Article and Find Full Text PDF
November 2019

Biallelic CACNA1A mutations cause early onset epileptic encephalopathy with progressive cerebral, cerebellar, and optic nerve atrophy.

Authors:
Karit Reinson Eve Õiglane-Shlik Inga Talvik Ulvi Vaher Anne Õunapuu Margus Ennok Rita Teek Sander Pajusalu Ülle Murumets Tiiu Tomberg Sanna Puusepp Andres Piirsoo Tiia Reimand Katrin Õunap

Am J Med Genet A 2016 08 2;170(8):2173-6. Epub 2016 Jun 2.

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

View Article and Find Full Text PDF
August 2016

The Frequency of Methylation Abnormalities Among Estonian Patients Selected by Clinical Diagnostic Scoring Systems for Silver-Russell Syndrome and Beckwith-Wiedemann Syndrome.

Authors:
Mari-Anne Vals Maria Yakoreva Tiina Kahre Pille Mee Kai Muru Kairit Joost Rita Teek Lukas Soellner Thomas Eggermann Katrin Õunap

Genet Test Mol Biomarkers 2015 Dec 27;19(12):684-91. Epub 2015 Oct 27.

1 Department of Genetics, United Laboratories, Tartu University Hospital , Tartu, Estonia .

View Article and Find Full Text PDF
December 2015

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

Authors:
Olga Zilina Rita Teek Pille Tammur Kati Kuuse Maria Yakoreva Eve Vaidla Triin Mölter-Väär Tiia Reimand Ants Kurg Katrin Ounap

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 and Find Full Text PDF
March 2014

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

Authors:
Eve Õiglane-Shlik Sanna Puusepp Inga Talvik Ulvi Vaher Reet Rein Pille Tammur Tiia Reimand Rita Teek Olga Žilina Tiiu Tomberg Katrin Õunap

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 and Find Full Text PDF
May 2014

A patient with the classic features of Phelan-McDermid syndrome and a high immunoglobulin E level caused by a cryptic interstitial 0.72-Mb deletion in the 22q13.2 region.

Authors:
Kristi Simenson Eve Õiglane-Shlik Rita Teek Kati Kuuse Katrin Õunap

Am J Med Genet A 2014 Mar 20;164A(3):806-9. Epub 2013 Dec 20.

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

View Article and Find Full Text PDF
March 2014

Prevalence of c.35delG and p.M34T mutations in the GJB2 gene in Estonia.

Authors:
Rita Teek Katrin Kruustük Riina Zordania Kairit Joost Tiia Reimand Tõnu Möls Eneli Oitmaa Tiina Kahre Neeme Tõnisson Katrin Ounap

Int J Pediatr Otorhinolaryngol 2010 Sep 18;74(9):1007-12. Epub 2010 Jun 18.

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

View Article and Find Full Text PDF
September 2010

Evaluation of the 124-plex SNP typing microarray for forensic testing.

Authors:
Kaarel Krjutskov Triin Viltrop Priit Palta Ene Metspalu Erika Tamm Siim Suvi Katrin Sak Alo Merilo Helena Sork Rita Teek Tiit Nikopensius Toomas Kivisild Andres Metspalu

Forensic Sci Int Genet 2009 Dec 15;4(1):43-8. Epub 2009 May 15.

Department of Biotechnology, IMCB, University of Tartu, 23 Riia St, 51010 Tartu, Estonia.

View Article and Find Full Text PDF
December 2009

LEOPARD syndrome with recurrent PTPN11 mutation Y279C and different cutaneous manifestations: two case reports and a review of the literature.

Authors:
Ingrid Kalev Kai Muru Rita Teek Riina Zordania Tiia Reimand Kristel Köbas Katrin Ounap

Eur J Pediatr 2010 Apr 20;169(4):469-73. Epub 2009 Sep 20.

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

View Article and Find Full Text PDF
April 2010

Splice variant IVS2-2A>G in the SLC26A5 (Prestin) gene in five Estonian families with hearing loss.

Authors:
Rita Teek Eneli Oitmaa Katrin Kruustük Riina Zordania Kairit Joost Elve Raukas Neeme Tõnisson Phyllis Gardner Iris Schrijver Mart Kull Katrin Ounap

Int J Pediatr Otorhinolaryngol 2009 Jan 22;73(1):103-7. Epub 2008 Nov 22.

Department of Oto-Rhino-Laryngology, University of Tartu, Tartu, Estonia.

View Article and Find Full Text PDF
January 2009

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

Authors:
Helen Puusepp Olga Zilina Rita Teek Katrin Männik Sven Parkel Katrin Kruustük Kati Kuuse Ants Kurg Katrin Ounap

Eur J Med Genet 2009 Jan-Feb;52(1):71-4. Epub 2008 Oct 17.

View Article and Find Full Text PDF
April 2009