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Items: 32

1.

Creating basis for introducing non-invasive prenatal testing in the Estonian public health setting.

Žilina O, Rekker K, Kaplinski L, Sauk M, Paluoja P, Teder H, Ustav EL, Tõnisson N, Reimand T, Ridnõi K, Palta P, Vermeesch JR, Krjutškov K, Kurg A, Salumets A.

Prenat Diagn. 2019 Dec;39(13):1262-1268. doi: 10.1002/pd.5578. Epub 2019 Nov 6. German.

PMID:
31691324
2.

Detection of a balanced translocation carrier through trophectoderm biopsy analysis: a case report.

Tšuiko O, Dmitrijeva T, Kask K, Tammur P, Tõnisson N, Salumets A, Jatsenko T.

Mol Cytogenet. 2019 Jun 18;12:28. doi: 10.1186/s13039-019-0444-2. eCollection 2019.

3.

Polygenic prediction of breast cancer: comparison of genetic predictors and implications for risk stratification.

Läll K, Lepamets M, Palover M, Esko T, Metspalu A, Tõnisson N, Padrik P, Mägi R, Fischer K.

BMC Cancer. 2019 Jun 10;19(1):557. doi: 10.1186/s12885-019-5783-1.

4.

Search for Early Pancreatic Cancer Blood Biomarkers in Five European Prospective Population Biobanks Using Metabolomics.

Fest J, Vijfhuizen LS, Goeman JJ, Veth O, Joensuu A, Perola M, Männistö S, Ness-Jensen E, Hveem K, Haller T, Tonisson N, Mikkel K, Metspalu A, van Duijn CM, Ikram A, Stricker BH, Ruiter R, van Eijck CHJ, van Ommen GB, ʼt Hoen PAC.

Endocrinology. 2019 Jul 1;160(7):1731-1742. doi: 10.1210/en.2019-00165.

5.

Recall by genotype and cascade screening for familial hypercholesterolemia in a population-based biobank from Estonia.

Alver M, Palover M, Saar A, Läll K, Zekavat SM, Tõnisson N, Leitsalu L, Reigo A, Nikopensius T, Ainla T, Kals M, Mägi R, Gabriel SB, Eha J, Lander ES, Irs A, Philippakis A, Marandi T, Natarajan P, Metspalu A, Kathiresan S, Esko T.

Genet Med. 2019 May;21(5):1173-1180. doi: 10.1038/s41436-018-0311-2. Epub 2018 Oct 1.

6.

The target landscape of clinical kinase drugs.

Klaeger S, Heinzlmeir S, Wilhelm M, Polzer H, Vick B, Koenig PA, Reinecke M, Ruprecht B, Petzoldt S, Meng C, Zecha J, Reiter K, Qiao H, Helm D, Koch H, Schoof M, Canevari G, Casale E, Depaolini SR, Feuchtinger A, Wu Z, Schmidt T, Rueckert L, Becker W, Huenges J, Garz AK, Gohlke BO, Zolg DP, Kayser G, Vooder T, Preissner R, Hahne H, Tõnisson N, Kramer K, Götze K, Bassermann F, Schlegl J, Ehrlich HC, Aiche S, Walch A, Greif PA, Schneider S, Felder ER, Ruland J, Médard G, Jeremias I, Spiekermann K, Kuster B.

Science. 2017 Dec 1;358(6367). pii: eaan4368. doi: 10.1126/science.aan4368.

7.

Genome-wide association study and meta-analysis in Northern European populations replicate multiple colorectal cancer risk loci.

Tanskanen T, van den Berg L, Välimäki N, Aavikko M, Ness-Jensen E, Hveem K, Wettergren Y, Bexe Lindskog E, Tõnisson N, Metspalu A, Silander K, Orlando G, Law PJ, Tuupanen S, Gylfe AE, Hänninen UA, Cajuso T, Kondelin J, Sarin AP, Pukkala E, Jousilahti P, Salomaa V, Ripatti S, Palotie A, Järvinen H, Renkonen-Sinisalo L, Lepistö A, Böhm J, Mecklin JP, Al-Tassan NA, Palles C, Martin L, Barclay E, Tenesa A, Farrington SM, Timofeeva MN, Meyer BF, Wakil SM, Campbell H, Smith CG, Idziaszczyk S, Maughan TS, Kaplan R, Kerr R, Kerr D, Buchanan DD, Win AK, Hopper J, Jenkins MA, Newcomb PA, Gallinger S, Conti D, Schumacher FR, Casey G, Cheadle JP, Dunlop MG, Tomlinson IP, Houlston RS, Palin K, Aaltonen LA.

Int J Cancer. 2018 Feb 1;142(3):540-546. doi: 10.1002/ijc.31076. Epub 2017 Oct 12.

8.

The number of CAG and GGN triplet repeats in the Androgen Receptor gene exert combinatorial effect on hormonal and sperm parameters in young men.

Grigorova M, Punab M, Kahre T, Ivandi M, Tõnisson N, Poolamets O, Vihljajev V, Žilaitienė B, Erenpreiss J, Matulevičius V, Laan M.

Andrology. 2017 May;5(3):495-504. doi: 10.1111/andr.12344. Epub 2017 Mar 23.

9.

Correction: Methylation Markers of Early-Stage Non-Small Cell Lung Cancer.

Lokk K, Vooder T, Kolde R, Välk K, Võsa U, Roosipuu R, Milani L, Fischer K, Koltsina M, Urgard E, Annilo T, Metspalu A, Tõnisson N.

PLoS One. 2017 Jan 20;12(1):e0170833. doi: 10.1371/journal.pone.0170833. eCollection 2017.

10.

Erratum to: DNA methylome profiling of human tissues identifies global and tissue-specific methylation patterns.

Lokk K, Modhukur V, Rajashekar B, Märtens K, Mägi R, Kolde R, Koltšina M, Nilsson TK, Vilo J, Salumets A, Tönisson N.

Genome Biol. 2016 Nov 1;17(1):224. No abstract available.

11.

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

Žilina O, Koltšina M, Raid R, Kurg A, Tõnisson N, Salumets A.

BMC Genomics. 2015 Sep 16;16:703. doi: 10.1186/s12864-015-1916-3.

12.

DNA methylome profiling of human tissues identifies global and tissue-specific methylation patterns.

Lokk K, Modhukur V, Rajashekar B, Märtens K, Mägi R, Kolde R, Koltšina M, Nilsson TK, Vilo J, Salumets A, Tõnisson N.

Genome Biol. 2014 Apr 1;15(4):r54. doi: 10.1186/gb-2014-15-4-r54. Erratum in: Genome Biol. 2016 Nov 1;17 (1):224.

13.

Hearing impairment in Estonia: an algorithm to investigate genetic causes in pediatric patients.

Teek R, Kruustük K, Žordania R, Joost K, Kahre T, Tõnisson N, Nelis M, Zilina O, Tranebjaerg L, Reimand T, Ounap K.

Adv Med Sci. 2013;58(2):419-28. doi: 10.2478/ams-2013-0001.

PMID:
24222258
14.

Tissue-specific mitochondrial heteroplasmy at position 16,093 within the same individual.

Krjutškov K, Koltšina M, Grand K, Võsa U, Sauk M, Tõnisson N, Salumets A.

Curr Genet. 2014 Feb;60(1):11-6. doi: 10.1007/s00294-013-0398-6. Epub 2013 Jul 11.

15.

Methylation markers of early-stage non-small cell lung cancer.

Lokk K, Vooder T, Kolde R, Välk K, Võsa U, Roosipuu R, Milani L, Fischer K, Koltsina M, Urgard E, Annilo T, Metspalu A, Tõnisson N.

PLoS One. 2012;7(6):e39813. doi: 10.1371/journal.pone.0039813. Epub 2012 Jun 29. Erratum in: PLoS One. 2017 Jan 20;12 (1):e0170833.

16.

Identification of miR-374a as a prognostic marker for survival in patients with early-stage nonsmall cell lung cancer.

Võsa U, Vooder T, Kolde R, Fischer K, Välk K, Tõnisson N, Roosipuu R, Vilo J, Metspalu A, Annilo T.

Genes Chromosomes Cancer. 2011 Oct;50(10):812-22. doi: 10.1002/gcc.20902. Epub 2011 Jul 11.

PMID:
21748820
17.

Novel polymorphic AluYb8 insertion in the WNK1 gene is associated with blood pressure variation in Europeans.

Putku M, Kepp K, Org E, Sõber S, Comas D, Viigimaa M, Veldre G, Juhanson P, Hallast P, Tõnisson N; HYPertension in ESTonia (HYPEST), Shaw-Hawkins S, Caulfield MJ; BRItish Genetics of HyperTension (BRIGHT), Khusnutdinova E, Kožich V, Munroe PB, Laan M.

Hum Mutat. 2011 Jul;32(7):806-14. doi: 10.1002/humu.21508. Epub 2011 May 10.

18.

Molecular diagnosis of Down syndrome using quantitative APEX-2 microarrays.

Oitmaa E, Peters M, Vaidla K, Andreson R, Mägi R, Slavin G, Velthut A, Tõnisson N, Reimand T, Remm M, Schneider M, Ounap K, Salumets A, Metspalu A.

Prenat Diagn. 2010 Dec;30(12-13):1170-7. doi: 10.1002/pd.2639.

PMID:
20949644
19.

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.

Int J Pediatr Otorhinolaryngol. 2010 Sep;74(9):1007-12. doi: 10.1016/j.ijporl.2010.05.026. Epub 2010 Jun 18.

PMID:
20708129
20.

Classical galactosemia in Estonia: selective neonatal screening, incidence, and genotype/phenotype data of diagnosed patients.

Ounap K, Joost K, Temberg T, Krabbi K, Tõnisson N.

J Inherit Metab Dis. 2010 Apr;33(2):175-6. doi: 10.1007/s10545-010-9045-2. Epub 2010 Feb 12. No abstract available.

PMID:
20151200
21.

Hypervariable intronic region in NCX1 is enriched in short insertion-deletion polymorphisms and showed association with cardiovascular traits.

Kepp K, Org E, Sõber S, Kelgo P, Viigimaa M, Veldre G, Tõnisson N, Juhanson P, Putku M, Kindmark A, Kozich V, Laan M.

BMC Med Genet. 2010 Jan 28;11:15. doi: 10.1186/1471-2350-11-15.

22.

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.

Int J Pediatr Otorhinolaryngol. 2009 Jan;73(1):103-7. doi: 10.1016/j.ijporl.2008.10.003. Epub 2008 Nov 22.

PMID:
19027966
23.

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

Kousoulidou L, Männik K, Sismani C, Zilina O, Parkel S, Puusepp H, Tõnisson N, Palta P, Remm M, Kurg A, Patsalis PC.

Nat Protoc. 2008;3(5):849-65. doi: 10.1038/nprot.2008.49.

PMID:
18451793
24.

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

Patsalis PC, Kousoulidou L, Männik K, Sismani C, Zilina O, Parkel S, Puusepp H, Tõnisson N, Palta P, Remm M, Kurg A.

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

25.

Evaluation of arrayed primer extension for TP53 mutation detection in breast and ovarian carcinomas.

Kringen P, Bergamaschi A, Due EU, Wang Y, Tagliabue E, Nesland JM, Nehman A, Tönisson N, Børresen-Dale AL.

Biotechniques. 2005 Nov;39(5):755-61.

26.

Arrayed primer extension resequencing of mutations in the TP53 tumor suppressor gene: comparison with denaturing HPLC and direct sequencing.

Le Calvez F, Ahman A, Tonisson N, Lambert J, Temam S, Brennan P, Zaridze DG, Metspalu A, Hainaut P.

Clin Chem. 2005 Jul;51(7):1284-7. No abstract available.

PMID:
15976115
27.

Genotyping microarray (gene chip) for the ABCR (ABCA4) gene.

Jaakson K, Zernant J, Külm M, Hutchinson A, Tonisson N, Glavac D, Ravnik-Glavac M, Hawlina M, Meltzer MR, Caruso RC, Testa F, Maugeri A, Hoyng CB, Gouras P, Simonelli F, Lewis RA, Lupski JR, Cremers FP, Allikmets R.

Hum Mutat. 2003 Nov;22(5):395-403.

PMID:
14517951
28.

Reliable detection of beta-thalassemia and G6PD mutations by a DNA microarray.

Gemignani F, Perra C, Landi S, Canzian F, Kurg A, Tõnisson N, Galanello R, Cao A, Metspalu A, Romeo G.

Clin Chem. 2002 Nov;48(11):2051-4. No abstract available.

PMID:
12406995
29.

A first-generation linkage disequilibrium map of human chromosome 22.

Dawson E, Abecasis GR, Bumpstead S, Chen Y, Hunt S, Beare DM, Pabial J, Dibling T, Tinsley E, Kirby S, Carter D, Papaspyridonos M, Livingstone S, Ganske R, Lõhmussaar E, Zernant J, Tõnisson N, Remm M, Mägi R, Puurand T, Vilo J, Kurg A, Rice K, Deloukas P, Mott R, Metspalu A, Bentley DR, Cardon LR, Dunham I.

Nature. 2002 Aug 1;418(6897):544-8. Epub 2002 Jul 10.

30.

Evaluating the arrayed primer extension resequencing assay of TP53 tumor suppressor gene.

Tõnisson N, Zernant J, Kurg A, Pavel H, Slavin G, Roomere H, Meiel A, Hainaut P, Metspalu A.

Proc Natl Acad Sci U S A. 2002 Apr 16;99(8):5503-8.

31.

Unravelling genetic data by arrayed primer extension.

Tõnisson N, Kurg A, Kaasik K, Lõhmussaar E, Metspalu A.

Clin Chem Lab Med. 2000 Feb;38(2):165-70.

PMID:
10834405
32.

Arrayed primer extension: solid-phase four-color DNA resequencing and mutation detection technology.

Kurg A, Tõnisson N, Georgiou I, Shumaker J, Tollett J, Metspalu A.

Genet Test. 2000;4(1):1-7.

PMID:
10794354

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