Reimand T - Search Results

1

Refining the 9q34.3 microduplication syndrome reveals mild neurodevelopmental features associated with a distinct global DNA methylation profile.

Rots D, Rooney K, Relator R, Kerkhof J, McConkey H, Pfundt R, Marcelis C, Willemsen MH, van Hagen JM, Zwijnenburg P, Alders M, Õunap K, Reimand T, Fjodorova O, Berland S, Liahjell EB, Bojovic O, Kriek M, Ruivenkamp C, Bonati MT, Brunner HG, Vissers LELM, Sadikovic B, Kleefstra T. Rots D, et al. Among authors: reimand t. Clin Genet. 2024 Jun;105(6):655-660. doi: 10.1111/cge.14498. Epub 2024 Feb 21. Clin Genet. 2024. PMID: 38384171

2

Parents' satisfaction with medical and social assistance provided to children with Down syndrome: experience in Estonia.

Reimand T, Uibo O, Zordania R, Palmiste V, Ounap K, Tqlvik T. Reimand T, et al. Community Genet. 2003;6(3):166-70. doi: 10.1159/000078164. Community Genet. 2003. PMID: 15243997

3

Two sisters with Silver-Russell phenotype.

Ounap K, Reimand T, Mägi ML, Bartsch O. Ounap K, et al. Among authors: reimand t. Am J Med Genet A. 2004 Dec 15;131(3):301-6. doi: 10.1002/ajmg.a.30379. Am J Med Genet A. 2004. PMID: 15523618

4

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: reimand t. 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.

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: reimand t. 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

A novel c.2T > C mutation of the KDM5C/JARID1C gene in one large family with X-linked intellectual disability.

Ounap K, Puusepp-Benazzouz H, Peters M, Vaher U, Rein R, Proos A, Field M, Reimand T. Ounap K, et al. Among authors: reimand t. Eur J Med Genet. 2012 Mar;55(3):178-84. doi: 10.1016/j.ejmg.2012.01.004. Epub 2012 Jan 21. Eur J Med Genet. 2012. PMID: 22326837

7

Prospective experience with contingent screening strategy for Down syndrome in Estonia.

Muru K, Sitska M, Asser K, Ehrenberg A, Karro H, Ounap K, Reimand T. Muru K, et al. Among authors: reimand t. J Community Genet. 2010 Sep;1(3):133-8. doi: 10.1007/s12687-010-0020-2. Epub 2010 Oct 2. J Community Genet. 2010. PMID: 22460245 Free PMC article.

8

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

Žilina O, Reimand T, Tammur P, Tillmann V, Kurg A, Õunap K. Žilina O, et al. Among authors: reimand t. Eur J Med Genet. 2013 Apr;56(4):202-6. doi: 10.1016/j.ejmg.2013.01.008. Epub 2013 Jan 28. Eur J Med Genet. 2013. PMID: 23369838 Review.

9

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: reimand t. 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

10

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: reimand t. 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.

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