Irina Balikova

Irina Balikova

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Irina Balikova

Irina Balikova

Publications by authors named "Irina Balikova"

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Microcoria due to first duplication of 13q32.1 including the GPR180 gene and maternal mosaicism.

Eur J Med Genet 2020 Mar 19:103918. Epub 2020 Mar 19.

Department of Ophthalmology, Children Hospital Queen Fabiola, Brussels, Belgium; Department of Ophthalmology, Ghent University Hospital, Belgium; Department of Ophthalmology, Leuven University Hospital, Belgium. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2020.103918DOI Listing
March 2020

MULTIMODAL IMAGING IN HELLP-RELATED CHORIORETINOPATHY.

Retin Cases Brief Rep 2020 Feb 4. Epub 2020 Feb 4.

Department of Ophthalmology, CHU Brugmann, Université Libre de Bruxelles, Brussels, Belgium.

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http://dx.doi.org/10.1097/ICB.0000000000000970DOI Listing
February 2020

Three cases of molecularly confirmed Knobloch syndrome.

Ophthalmic Genet 2020 Feb 17;41(1):83-87. Epub 2020 Mar 17.

Department of Ophthalmology, University Hospital Erasme, Brussels, Belgium.

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http://dx.doi.org/10.1080/13816810.2020.1737948DOI Listing
February 2020

Analysis of KERA in four families with cornea plana identifies two novel mutations.

Acta Ophthalmol 2018 Feb 5;96(1):e87-e91. Epub 2017 Jul 5.

Institute of Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Praha, Czech Republic.

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http://dx.doi.org/10.1111/aos.13484DOI Listing
February 2018

High frequency of submicroscopic chromosomal deletions in patients with idiopathic congenital eye malformations.

Am J Ophthalmol 2011 Jun 25;151(6):1087-1094.e45. Epub 2011 Feb 25.

Centre for Human Genetics, University Hospitals Leuven, Katholieke Universiteit Leuven, Leuven, Belgium.

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http://dx.doi.org/10.1016/j.ajo.2010.11.025DOI Listing
June 2011

2q31.1 microdeletion syndrome: redefining the associated clinical phenotype.

J Med Genet 2011 Feb 10;48(2):98-104. Epub 2010 Nov 10.

Centre for Human Genetics, University Hospitals Leuven, Leuven, Belgium.

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http://dx.doi.org/10.1136/jmg.2010.079491DOI Listing
February 2011

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

Eur J Med Genet 2009 Jul-Aug;52(4):260-1. Epub 2009 Jan 14.

Center for Human Genetics, University Hospitals Leuven, Herestraat 49, B-3000 Leuven, Belgium.

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http://dx.doi.org/10.1016/j.ejmg.2009.01.001DOI Listing
November 2009

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

Eur J Med Genet 2009 Mar-Jun;52(2-3):120-2. Epub 2009 Jan 22.

University Hospitals of Leuven, Center for Human Genetics, Herestraat 49, B-3000 Leuven, Belgium.

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http://dx.doi.org/10.1016/j.ejmg.2009.01.002DOI Listing
September 2009

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

Am J Med Genet A 2009 Jun;149A(6):1315-6

Centre for Human Genetics, UZ Leuven, Leuven, Belgium.

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http://dx.doi.org/10.1002/ajmg.a.32817DOI Listing
June 2009

Acrofacial dysostosis type Rodríguez.

Am J Med Genet A 2005 May;135(1):81-5

Center for Human Genetics, University Hospital Gasthuisberg, University of Leuven, Herestraat 49, 3000 Leuven, Belgium.

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http://dx.doi.org/10.1002/ajmg.a.30673DOI Listing
May 2005