Balikova I - Search Results

1

Autosomal-dominant microtia linked to five tandem copies of a copy-number-variable region at chromosome 4p16.

Balikova I, Martens K, Melotte C, Amyere M, Van Vooren S, Moreau Y, Vetrie D, Fiegler H, Carter NP, Liehr T, Vikkula M, Matthijs G, Fryns JP, Casteels I, Devriendt K, Vermeesch JR. Balikova I, et al. Am J Hum Genet. 2008 Jan;82(1):181-7. doi: 10.1016/j.ajhg.2007.08.001. Am J Hum Genet. 2008. PMID: 18179897 Free PMC article.

2

Acrofacial dysostosis type Rodríguez.

Dimitrov B, Balikova I, Jekova N, Vakrilova L, Fryns JP, Simeonov E. Dimitrov B, et al. Among authors: balikova i. Am J Med Genet A. 2005 May 15;135(1):81-5. doi: 10.1002/ajmg.a.30673. Am J Med Genet A. 2005. PMID: 15793832 Review.

3

Emerging patterns of cryptic chromosomal imbalance in patients with idiopathic mental retardation and multiple congenital anomalies: a new series of 140 patients and review of published reports.

Menten B, Maas N, Thienpont B, Buysse K, Vandesompele J, Melotte C, de Ravel T, Van Vooren S, Balikova I, Backx L, Janssens S, De Paepe A, De Moor B, Moreau Y, Marynen P, Fryns JP, Mortier G, Devriendt K, Speleman F, Vermeesch JR. Menten B, et al. Among authors: balikova i. J Med Genet. 2006 Aug;43(8):625-33. doi: 10.1136/jmg.2005.039453. Epub 2006 Feb 20. J Med Genet. 2006. PMID: 16490798 Free PMC article.

4

Molecular karyotyping of patients with MCA/MR: the blurred boundary between normal and pathogenic variation.

de Ravel TJ, Balikova I, Thienpont B, Hannes F, Maas N, Fryns JP, Devriendt K, Vermeesch JR. de Ravel TJ, et al. Among authors: balikova i. Cytogenet Genome Res. 2006;115(3-4):225-30. doi: 10.1159/000095918. Cytogenet Genome Res. 2006. PMID: 17124404 Review.

5

Subtelomeric imbalances in phenotypically normal individuals.

Balikova I, Menten B, de Ravel T, Le Caignec C, Thienpont B, Urbina M, Doco-Fenzy M, de Rademaeker M, Mortier G, Kooy F, van den Ende J, Devriendt K, Fryns JP, Speleman F, Vermeesch JR. Balikova I, et al. Hum Mutat. 2007 Oct;28(10):958-67. doi: 10.1002/humu.20537. Hum Mutat. 2007. PMID: 17492636

6

Lobar holoprosencephaly in 18pter deletion resulting from the karyotype 45,X,-18,der(8;18)t(8; 18)(pter;p11.21).

Witters I, Balikova I, Cannie M, Devriendt K, De Catte L, Fryns JP. Witters I, et al. Among authors: balikova i. Genet Couns. 2008;19(4):443-6. Genet Couns. 2008. PMID: 19239091 No abstract available.

7

Bronchiectasis and immune deficiency in an adult patient with deletion 2q37 due to an unbalanced translocation t(2;10).

Balikova I, Vermeesch JR, Fryns JP, Van Esch H. Balikova I, et al. Eur J Med Genet. 2009 Jul-Aug;52(4):260-1. doi: 10.1016/j.ejmg.2009.01.001. Epub 2009 Jan 14. Eur J Med Genet. 2009. PMID: 19272308

8

Another patient with a de novo deletion further delineates the 2q33.1 microdeletion syndrome.

de Ravel TJ, Balikova I, Thiry P, Vermeesch JR, Frijns JP. de Ravel TJ, et al. Among authors: balikova i. Eur J Med Genet. 2009 Mar-Jun;52(2-3):120-2. doi: 10.1016/j.ejmg.2009.01.002. Epub 2009 Jan 22. Eur J Med Genet. 2009. PMID: 19284984

9

"Opitz C syndrome and pseudohypoaldosteronism" is caused by a chromosome 4q deletion.

de Ravel T, Balikova I, Van Driessche J, Vermeesch J, Fryns JP. de Ravel T, et al. Among authors: balikova i. Am J Med Genet A. 2009 Jun;149A(6):1315-6. doi: 10.1002/ajmg.a.32817. Am J Med Genet A. 2009. PMID: 19449408 No abstract available.

10

Deletions in the VPS13B (COH1) gene as a cause of Cohen syndrome.

Balikova I, Lehesjoki AE, de Ravel TJ, Thienpont B, Chandler KE, Clayton-Smith J, Träskelin AL, Fryns JP, Vermeesch JR. Balikova I, et al. Hum Mutat. 2009 Sep;30(9):E845-54. doi: 10.1002/humu.21065. Hum Mutat. 2009. PMID: 19533689

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