Teek R - Search Results

1

Natural history of KBG syndrome in a large European cohort.

Loberti L, Bruno LP, Granata S, Doddato G, Resciniti S, Fava F, Carullo M, Rahikkala E, Jouret G, Menke LA, Lederer D, Vrielynck P, Ryba L, Brunetti-Pierri N, Lasa-Aranzasti A, Cueto-González AM, Trujillano L, Valenzuela I, Tizzano EF, Spinelli AM, Bruno I, Currò A, Stanzial F, Benedicenti F, Lopergolo D, Santorelli FM, Aristidou C, Tanteles GA, Maystadt I, Tkemaladze T, Reimand T, Lokke H, Õunap K, Haanpää MK, Holubová A, Zoubková V, Schwarz M, Žordania R, Muru K, Roht L, Tihveräinen A, Teek R, Thomson U, Atallah I, Superti-Furga A, Buoni S, Canitano R, Scandurra V, Rossetti A, Grosso S, Battini R, Baldassarri M, Mencarelli MA, Rizzo CL, Bruttini M, Mari F, Ariani F, Renieri A, Pinto AM. Loberti L, et al. Among authors: teek r. Hum Mol Genet. 2022 Dec 16;31(24):4131-4142. doi: 10.1093/hmg/ddac167. Hum Mol Genet. 2022. PMID: 35861666 Free PMC article.

2

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

Teek R, Oitmaa E, Kruustük K, Zordania R, Joost K, Raukas E, Tõnisson N, Gardner P, Schrijver I, Kull M, Ounap K. Teek R, et al. Int J Pediatr Otorhinolaryngol. 2009 Jan;73(1):103-7. doi: 10.1016/j.ijporl.2008.10.003. Epub 2008 Nov 22. Int J Pediatr Otorhinolaryngol. 2009. PMID: 19027966

3

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

Kalev I, Muru K, Teek R, Zordania R, Reimand T, Köbas K, Ounap K. Kalev I, et al. Among authors: teek r. Eur J Pediatr. 2010 Apr;169(4):469-73. doi: 10.1007/s00431-009-1058-1. Epub 2009 Sep 20. Eur J Pediatr. 2010. PMID: 19768645 Review.

4

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

Teek R, Kruustük K, Zordania R, Joost K, Reimand T, Möls T, Oitmaa E, Kahre T, Tõnisson N, Ounap K. Teek R, et al. Int J Pediatr Otorhinolaryngol. 2010 Sep;74(9):1007-12. doi: 10.1016/j.ijporl.2010.05.026. Epub 2010 Jun 18. Int J Pediatr Otorhinolaryngol. 2010. PMID: 20708129

5

A Boy with Holt-Oram Syndrome Caused by Novel Mutation c.1304delT in the TBX5 Gene.

Muru K, Kalev I, Teek R, Sõnajalg M, Kuuse K, Reimand T, Ounap K. Muru K, et al. Among authors: teek r. Mol Syndromol. 2011 Sep;1(6):307-310. doi: 10.1159/000330109. Epub 2011 Aug 3. Mol Syndromol. 2011. PMID: 22190901 Free PMC article.

6

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: teek r. Mol Syndromol. 2011 Sep;1(6):311-315. doi: 10.1159/000331323. Epub 2011 Sep 14. Mol Syndromol. 2011. PMID: 22190902 Free PMC article.

7

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.

Simenson K, Õiglane-Shlik E, Teek R, Kuuse K, Õunap K. Simenson K, et al. Among authors: teek r. Am J Med Genet A. 2014 Mar;164A(3):806-9. doi: 10.1002/ajmg.a.36358. Epub 2013 Dec 20. Am J Med Genet A. 2014. PMID: 24375995

8

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: teek r. 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

9

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. Among authors: teek r. 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.

10

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

Vals MA, Yakoreva M, Kahre T, Mee P, Muru K, Joost K, Teek R, Soellner L, Eggermann T, Õunap K. Vals MA, et al. Among authors: teek r. Genet Test Mol Biomarkers. 2015 Dec;19(12):684-91. doi: 10.1089/gtmb.2015.0163. Epub 2015 Oct 27. Genet Test Mol Biomarkers. 2015. PMID: 26505556 Free PMC article. Clinical Trial.

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