Kuuse K - Search Results

1

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: kuuse k. 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.

2

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: kuuse k. Mol Syndromol. 2015 Sep;6(3):135-40. doi: 10.1159/000438776. Epub 2015 Aug 15. Mol Syndromol. 2015. PMID: 26733775 Free PMC article.

3

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: kuuse k. 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

4

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: kuuse k. 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

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: kuuse k. 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

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: kuuse k. 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

7

Enhanced proliferative capacity of human preadipocytes achieved by an optimized cultivating method that induces transient activity of hTERT.

Cárdenas-León CG, Mäemets-Allas K, Kuuse K, Salazar-Olivo LA, Jaks V. Cárdenas-León CG, et al. Among authors: kuuse k. Biochem Biophys Res Commun. 2020 Aug 20;529(2):455-461. doi: 10.1016/j.bbrc.2020.06.019. Epub 2020 Jul 1. Biochem Biophys Res Commun. 2020. PMID: 32703451

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