Ounap K - Search Results

1

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.

2

Familial Williams-Beuren syndrome.

Ounap K, Laidre P, Bartsch O, Rein R, Lipping-Sitska M. Ounap K, et al. Am J Med Genet. 1998 Dec 28;80(5):491-3. doi: 10.1002/(sici)1096-8628(19981228)80:5<491::aid-ajmg10>3.0.co;2-j. Am J Med Genet. 1998. PMID: 9880214

3

Boy with celiac disease, malformations, and ring chromosome 13 with deletion 13q32-->qter.

Talvik I, Ounap K, Bartsch O, Ilus T, Uibo O, Talvik T. Talvik I, et al. Among authors: ounap k. Am J Med Genet. 2000 Aug 28;93(5):399-402. Am J Med Genet. 2000. PMID: 10951464

4

Girl with combined cellular immunodeficiency, pancytopenia, malformations, deletion 11q23.3 --> qter, and trisomy 8q24.3 --> qter.

Ounap K, Bartsch O, Uibo O, Laidre P. Ounap K, et al. Am J Med Genet. 2002 Apr 1;108(4):322-6. doi: 10.1002/ajmg.10284. Am J Med Genet. 2002. PMID: 11920839

5

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

6

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

7

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

8

A girl with inverted triplication of chromosome 3q25.3 --> q29 and multiple congenital anomalies consistent with 3q duplication syndrome.

Ounap K, Ilus T, Bartsch O. Ounap K, et al. Am J Med Genet A. 2005 May 1;134(4):434-8. doi: 10.1002/ajmg.a.30134. Am J Med Genet A. 2005. PMID: 15793836

9

Prevalence of Angelman syndrome and Prader-Willi syndrome in Estonian children: sister syndromes not equally represented.

Oiglane-Shlik E, Talvik T, Zordania R, Põder H, Kahre T, Raukas E, Ilus T, Tasa G, Bartsch O, Väisänen ML, Ounap K. Oiglane-Shlik E, et al. Among authors: ounap k. Am J Med Genet A. 2006 Sep 15;140(18):1936-43. doi: 10.1002/ajmg.a.31423. Am J Med Genet A. 2006. PMID: 16906556

10

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. Among authors: ounap k. Paediatr Perinat Epidemiol. 2006 Nov;20(6):512-9. doi: 10.1111/j.1365-3016.2006.00758.x. Paediatr Perinat Epidemiol. 2006. PMID: 17052289

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