Ounap K - Search Results

1

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

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

DiGeorge/velocardiofacial syndrome: FISH studies of chromosomes 22q11 and 10p14, and clinical reports on the proximal 22q11 deletion.

Bartsch O, Nemecková M, Kocárek E, Wagner A, Puchmajerová A, Poppe M, Ounap K, Goetz P. Bartsch O, et al. Among authors: ounap k. Am J Med Genet A. 2003 Feb 15;117A(1):1-5. doi: 10.1002/ajmg.a.10914. Am J Med Genet A. 2003. PMID: 12548732

6

Sudden death of a girl with Prader-Willi syndrome.

Oiglane E, Ounap K, Bartsch O, Rein R, Talvik T. Oiglane E, et al. Among authors: ounap k. Genet Couns. 2002;13(4):459-64. Genet Couns. 2002. PMID: 12558118

7

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

8

Subtelomere FISH in 50 children with mental retardation and minor anomalies, identified by a checklist, detects 10 rearrangements including a de novo balanced translocation of chromosomes 17p13.3 and 20q13.33.

Walter S, Sandig K, Hinkel GK, Mitulla B, Ounap K, Sims G, Sitska M, Utermann B, Viertel P, Kalscheuer V, Bartsch O. Walter S, et al. Among authors: ounap k. Am J Med Genet A. 2004 Aug 1;128A(4):364-73. doi: 10.1002/ajmg.a.30160. Am J Med Genet A. 2004. PMID: 15264281

9

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

10

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

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