Õiglane-Shlik E - Search Results

1

Coffin-Siris Syndrome with obesity, macrocephaly, hepatomegaly and hyperinsulinism caused by a mutation in the ARID1B gene.

Vals MA, Õiglane-Shlik E, Nõukas M, Shor R, Peet A, Kals M, Kivistik PA, Metspalu A, Õunap K. Vals MA, et al. Eur J Hum Genet. 2014 Nov;22(11):1327-9. doi: 10.1038/ejhg.2014.25. Epub 2014 Feb 26. Eur J Hum Genet. 2014. PMID: 24569609 Free PMC article.

2

Diverse phenotype in patients with complex I deficiency due to mutations in NDUFB11.

Reinson K, Kovacs-Nagy R, Õiglane-Shlik E, Pajusalu S, Nõukas M, Wintjes LT, van den Brandt FCA, Brink M, Acker T, Ahting U, Hahn A, Schänzer A, Haack TB, Rodenburg RJ, Õunap K. Reinson K, et al. Among authors: oiglane shlik e. Eur J Med Genet. 2019 Nov;62(11):103572. doi: 10.1016/j.ejmg.2018.11.006. Epub 2018 Nov 10. Eur J Med Genet. 2019. PMID: 30423443

3

PEHO syndrome caused by compound heterozygote variants in ZNHIT3 gene.

Õunap K, Muru K, Õiglane-Shlik E, Ilves P, Pajusalu S, Kuus I, Wojcik MH, Reimand T. Õunap K, et al. Among authors: oiglane shlik e. Eur J Med Genet. 2020 Feb;63(2):103660. doi: 10.1016/j.ejmg.2019.04.017. Epub 2019 Apr 29. Eur J Med Genet. 2020. PMID: 31048081 Free PMC article.

4

A retrospective analysis of the prevalence of imprinting disorders in Estonia from 1998 to 2016.

Yakoreva M, Kahre T, Žordania R, Reinson K, Teek R, Tillmann V, Peet A, Õiglane-Shlik E, Pajusalu S, Murumets Ü, Vals MA, Mee P, Wojcik MH, Õunap K. Yakoreva M, et al. Among authors: oiglane shlik e. Eur J Hum Genet. 2019 Nov;27(11):1649-1658. doi: 10.1038/s41431-019-0446-x. Epub 2019 Jun 11. Eur J Hum Genet. 2019. PMID: 31186545 Free PMC article.

5

A female with Angelman syndrome and unusual limb deformities.

Oiglane-Shlik E, Rein R, Tillmann V, Talvik T, Ounap K. Oiglane-Shlik E, et al. Pediatr Neurol. 2005 Jul;33(1):66-9. doi: 10.1016/j.pediatrneurol.2005.02.004. Pediatr Neurol. 2005. PMID: 15876517

6

Mosaicism for maternal uniparental disomy 15 in a boy with some clinical features of Prader-Willi syndrome.

Zilina O, Kahre T, Talvik I, Oiglane-Shlik E, Tillmann V, Ounap K. Zilina O, et al. Among authors: oiglane shlik e. Eur J Med Genet. 2014 May-Jun;57(6):279-83. doi: 10.1016/j.ejmg.2014.03.007. Epub 2014 Apr 2. Eur J Med Genet. 2014. PMID: 24704109

7

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. 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

8

Biallelic CACNA1A mutations cause early onset epileptic encephalopathy with progressive cerebral, cerebellar, and optic nerve atrophy.

Reinson K, Õiglane-Shlik E, Talvik I, Vaher U, Õunapuu A, Ennok M, Teek R, Pajusalu S, Murumets Ü, Tomberg T, Puusepp S, Piirsoo A, Reimand T, Õunap K. Reinson K, et al. Among authors: oiglane shlik e. Am J Med Genet A. 2016 Aug;170(8):2173-6. doi: 10.1002/ajmg.a.37678. Epub 2016 Jun 2. Am J Med Genet A. 2016. PMID: 27250579

9

Effectiveness of whole exome sequencing in unsolved patients with a clinical suspicion of a mitochondrial disorder in Estonia.

Puusepp S, Reinson K, Pajusalu S, Murumets Ü, Õiglane-Shlik E, Rein R, Talvik I, Rodenburg RJ, Õunap K. Puusepp S, et al. Among authors: oiglane shlik e. Mol Genet Metab Rep. 2018 Mar 15;15:80-89. doi: 10.1016/j.ymgmr.2018.03.004. eCollection 2018 Jun. Mol Genet Metab Rep. 2018. PMID: 30009132 Free PMC article.

10

Three patients with 9p deletions including DMRT1 and DMRT2: a girl with XY complement, bilateral ovotestes, and extreme growth retardation, and two XX females with normal pubertal development.

Ounap K, Uibo O, Zordania R, Kiho L, Ilus T, Oiglane-Shlik E, Bartsch O. Ounap K, et al. Am J Med Genet A. 2004 Nov 1;130A(4):415-23. doi: 10.1002/ajmg.a.30269. Am J Med Genet A. 2004. PMID: 15481033

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