Õunap K - Search Results

1

Delineation of a Human Mendelian Disorder of the DNA Demethylation Machinery: TET3 Deficiency.

Beck DB, Petracovici A, He C, Moore HW, Louie RJ, Ansar M, Douzgou S, Sithambaram S, Cottrell T, Santos-Cortez RLP, Prijoles EJ, Bend R, Keren B, Mignot C, Nougues MC, Õunap K, Reimand T, Pajusalu S, Zahid M, Saqib MAN, Buratti J, Seaby EG, McWalter K, Telegrafi A, Baldridge D, Shinawi M, Leal SM, Schaefer GB, Stevenson RE, Banka S, Bonasio R, Fahrner JA. Beck DB, et al. Among authors: ounap k. Am J Hum Genet. 2020 Feb 6;106(2):234-245. doi: 10.1016/j.ajhg.2019.12.007. Epub 2020 Jan 9. Am J Hum Genet. 2020. PMID: 31928709 Free PMC article.

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. Among authors: ounap k. 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. 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: ounap k. 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

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: ounap k. 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.

6

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: ounap 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.

7

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. 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

8

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: ounap k. 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.

9

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: ounap k. 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.

10

De novo SCN8A mutation identified by whole-exome sequencing in a boy with neonatal epileptic encephalopathy, multiple congenital anomalies, and movement disorders.

Vaher U, Nõukas M, Nikopensius T, Kals M, Annilo T, Nelis M, Ounap K, Reimand T, Talvik I, Ilves P, Piirsoo A, Seppet E, Metspalu A, Talvik T. Vaher U, et al. Among authors: ounap k. J Child Neurol. 2014 Dec;29(12):NP202-6. doi: 10.1177/0883073813511300. Epub 2013 Dec 18. J Child Neurol. 2014. PMID: 24352161

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