Publications by authors named "Eva Seemanová"

30Publications

Long term follow-up in a patient with a de novo microdeletion of 14q11.2 involving CHD8.

Am J Med Genet A 2015 Apr 3;167A(4):837-41. Epub 2015 Mar 3.

Department of Biology and Medical Genetics, Charles University 2nd Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.

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http://dx.doi.org/10.1002/ajmg.a.36957DOI Listing
April 2015

[Mutagenic effect of advanced paternal age in neurocardiofaciocutaneous syndrome].

Cas Lek Cesk 2014 ;153(5):242-5

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October 2015

A mutation in the c-fos gene associated with congenital generalized lipodystrophy.

Orphanet J Rare Dis 2013 Aug 7;8:119. Epub 2013 Aug 7.

Institute of Clinical Biochemistry and Pathobiochemistry, German Diabetes Center at the Heinrich-Heine-University Duesseldorf, Leibniz Center for Diabetes Research, Duesseldorf, Germany.

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http://dx.doi.org/10.1186/1750-1172-8-119DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3750569PMC
August 2013

Characterisation of ATM mutations in Slavic Ataxia telangiectasia patients.

Neuromolecular Med 2011 Sep 11;13(3):204-11. Epub 2011 Aug 11.

Department of Biochemistry and Experimental Oncology, 1st Faculty of Medicine, Charles University, U Nemocnice 5, 128 53, Prague, Czech Republic.

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http://dx.doi.org/10.1007/s12017-011-8152-zDOI Listing
September 2011

[Heterozygous carriers of Slavic mutation 657del5 of NBN gene in patients with colorectal cancer].

Cas Lek Cesk 2011 ;150(2):97-9

Univerzita Karlova v Praze, 2. lékarská fakulta a FN Motol, Ustav biologie a lékarské genetiky.

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June 2011

Clinical variability and expression of the NBN c.657del5 allele in Nijmegen Breakage Syndrome.

Gene 2009 Nov 25;447(1):12-7. Epub 2009 Jul 25.

Institut für Humangenetik, Charité - Universitätsmedizin Berlin, Campus Virchow Klinikum, Augustenburger Platz 1, 13353 Berlin, Germany.

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http://dx.doi.org/10.1016/j.gene.2009.07.013DOI Listing
November 2009

Novel BRAF mutation in a patient with LEOPARD syndrome and normal intelligence.

Eur J Med Genet 2009 Sep-Oct;52(5):337-40. Epub 2009 May 4.

Institute of Biology and Medical Genetics, Charles University, University Hospital Prague, Prague, Czech Republic.

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http://dx.doi.org/10.1016/j.ejmg.2009.04.006DOI Listing
November 2009

Polycystic kidney and hepatic disease with mental retardation and hand anomalies in three siblings.

Pediatr Nephrol 2009 Jul 15;24(7):1409-12. Epub 2008 Nov 15.

Department of Pediatrics, Second Medical School, University Hospital Motol, Charles University Prague, V Uvalu 84, 15006, Prague, Czech Republic.

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http://dx.doi.org/10.1007/s00467-008-1049-xDOI Listing
July 2009

Cancer risk of heterozygotes with the NBN founder mutation.

J Natl Cancer Inst 2007 Dec 11;99(24):1875-80. Epub 2007 Dec 11.

DrSc, Department of Clinical Genetics, Charles University Hospital, 2nd Medical School of Charles University, V úvalu 84, 150 06 Praha 5 Motol, Czech Republic.

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http://jnci.oxfordjournals.org/content/99/24/1875.full.pdf
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http://jnci.oxfordjournals.org/cgi/doi/10.1093/jnci/djm251
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http://dx.doi.org/10.1093/jnci/djm251DOI Listing
December 2007

Extreme variation in apoptosis capacity amongst lymphoid cells of Nijmegen breakage syndrome patients.

Eur J Cell Biol 2008 Feb 30;87(2):111-21. Epub 2007 Oct 30.

Institut für Humangenetik, Charité - Universitätsmedizin Berlin, Germany.

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http://linkinghub.elsevier.com/retrieve/pii/S017193350700136
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http://dx.doi.org/10.1016/j.ejcb.2007.09.002DOI Listing
February 2008

Cancer incidence in Nijmegen breakage syndrome is modulated by the amount of a variant NBS protein.

Carcinogenesis 2007 Jan 13;28(1):107-11. Epub 2006 Jul 13.

Institut für Humangenetik, Charité-Universitätsmedizin Berlin Campus-Virchow Klinikum, Augustenburger Platz 1, 13353 Berlin, Germany.

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https://academic.oup.com/carcin/article-lookup/doi/10.1093/c
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http://dx.doi.org/10.1093/carcin/bgl126DOI Listing
January 2007

Evidence for a new contiguous gene syndrome, the chromosome 16p13.3 deletion syndrome alias severe Rubinstein-Taybi syndrome.

Hum Genet 2006 Sep 17;120(2):179-86. Epub 2006 Jun 17.

Institute for Human Genetics, Mainz University School of Medicine, 55101, Mainz, Germany.

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http://dx.doi.org/10.1007/s00439-006-0215-0DOI Listing
September 2006

DNA sequencing of CREBBP demonstrates mutations in 56% of patients with Rubinstein-Taybi syndrome (RSTS) and in another patient with incomplete RSTS.

Hum Genet 2005 Sep 14;117(5):485-93. Epub 2005 Jul 14.

Institut für Humangenetik, Klinikum, Universität Mainz, 55101, Mainz, Germany.

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http://dx.doi.org/10.1007/s00439-005-1331-yDOI Listing
September 2005

Nijmegen breakage syndrome in 13% of age-matched Czech children with primary microcephaly.

Pediatr Neurol 2004 Mar;30(3):195-200

Department of Child Neurology, Charles University Hospital, Motol Prague, Czech Republic.

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http://dx.doi.org/10.1016/j.pediatrneurol.2003.07.003DOI Listing
March 2004