Reimand T - Search Results

1

Novel homozygous mutation in KPTN gene causing a familial intellectual disability-macrocephaly syndrome.

Pajusalu S, Reimand T, Õunap K. Pajusalu S, et al. Among authors: reimand t. Am J Med Genet A. 2015 Aug;167A(8):1913-5. doi: 10.1002/ajmg.a.37105. Epub 2015 Apr 5. Am J Med Genet A. 2015. PMID: 25847626

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

Descriptive epidemiology of Down's syndrome in Estonia.

Reimand T, Ounap K, Zordania R, Ilus T, Uibo O, Sitska M, Talvik T. Reimand T, et al. Paediatr Perinat Epidemiol. 2006 Nov;20(6):512-9. doi: 10.1111/j.1365-3016.2006.00758.x. Paediatr Perinat Epidemiol. 2006. PMID: 17052289

5

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.

6

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. Among authors: reimand t. 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

7

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. Oitmaa E, et al. Among authors: reimand t. Prenat Diagn. 2010 Dec;30(12-13):1170-7. doi: 10.1002/pd.2639. Prenat Diagn. 2010. PMID: 20949644

8

Maternally and paternally inherited deletion of 7q31 involving the FOXP2 gene in two families.

Zilina O, Reimand T, Zjablovskaja P, Männik K, Männamaa M, Traat A, Puusepp-Benazzouz H, Kurg A, Ounap K. Zilina O, et al. Among authors: reimand t. Am J Med Genet A. 2012 Jan;158A(1):254-6. doi: 10.1002/ajmg.a.34378. Epub 2011 Nov 21. Am J Med Genet A. 2012. PMID: 22105961 No abstract available.

9

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.

10

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

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