Publications by authors named "Eva Seemanova"

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The NBN founder mutation-Evidence for a country specific difference in age at cancer manifestation.
Krystyna H Chrzanowska, Eva Seemanova, Raymonda Varon, Martin Digweed, Dorota Piekutowska-Abramczuk

Cancer Rep (Hoboken)· February 2023

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Telomere attrition and dysfunction: a potential trigger of the progeroid phenotype in nijmegen breakage syndrome.
Raneem Habib, Ryong Kim, Heidemarie Neitzel, Ilja Demuth, Krystyna Chrzanowska, Eva Seemanova

Aging (Albany NY)· June 2020

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The Slavic NBN Founder Mutation: A Role for Reproductive Fitness?
Eva Seemanova, Raymonda Varon, Jan Vejvalka, Petr Jarolim, Pavel Seeman

PLoS One· July 2017

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Activating Mutations Affecting the Dbl Homology Domain of SOS2 Cause Noonan Syndrome.
Viviana Cordeddu, Jiani C Yin, Cecilia Gunnarsson, Carl Virtanen, Séverine Drunat, Eva Seemanova

Hum Mutat· November 2015

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[Mutagenic effect of advanced paternal age in neurocardiofaciocutaneous syndrome].
Eva Seemanová, Martin Zenker

Cas Lek Cesk· October 2015

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DYNC2LI1 mutations broaden the clinical spectrum of dynein-2 defects.
Kristin Kessler, Ina Wunderlich, Steffen Uebe, Nathalie S Falk, Andreas Gießl

Sci Rep· July 2015

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Long term follow-up in a patient with a de novo microdeletion of 14q11.2 involving CHD8.
Jana Drabova, Eva Seemanova, Miroslava Hancarova, Radka Pourova, Martin Horacek

Am J Med Genet A· April 2015

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An AP4B1 frameshift mutation in siblings with intellectual disability and spastic tetraplegia further delineates the AP-4 deficiency syndrome.
Hengameh Abdollahpour, Malik Alawi, Fanny Kortüm, Michael Beckstette, Eva Seemanova

Eur J Hum Genet· February 2015

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Deletions in the 3' part of the NFIX gene including a recurrent Alu-mediated deletion of exon 6 and 7 account for previously unexplained cases of Marshall-Smith syndrome.
Denny Schanze, Dorothée Neubauer, Valerie Cormier-Daire, Marie-Ange Delrue, Anne Dieux-Coeslier, Eva Seemanova

Hum Mutat· September 2014

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A mutation in the c-fos gene associated with congenital generalized lipodystrophy.
Birgit Knebel, Jorg Kotzka, Stefan Lehr, Sonja Hartwig, Haluk Avci, Eva Seemanova

Orphanet J Rare Dis· August 2013

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Mutation spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and genotype-phenotype correlations in warburg micro syndrome and Martsolf syndrome.
Mark T Handley, Deborah J Morris-Rosendahl, Stephen Brown, Fiona Macdonald, Carol Hardy, Eva Seemanova

Hum Mutat· May 2013

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Characterisation of ATM mutations in Slavic Ataxia telangiectasia patients.
Jana Soukupova, Petr Pohlreich, Eva Seemanova

Neuromolecular Med· September 2011

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[Heterozygous carriers of Slavic mutation 657del5 of NBN gene in patients with colorectal cancer].
Eva Seemanová, Jirí Hoch, Pavel Seeman

Cas Lek Cesk· June 2011

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Polycystic kidney and hepatic disease with mental retardation is nephronophthisis 11 caused by MKS3/TMEM67 mutations.
Tomás Seeman, Eva Seemanová, Gudrun Nuernberg, Peter Nuernberg, Sabine Janssen

Pediatr Nephrol· November 2010

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A restricted spectrum of NRAS mutations causes Noonan syndrome.
Ion C Cirstea, Kerstin Kutsche, Radovan Dvorsky, Lothar Gremer, Claudio Carta, Eva Seemanova

Nat Genet· January 2010

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Novel BRAF mutation in a patient with LEOPARD syndrome and normal intelligence.
Monika Koudova, Eva Seemanova, Martin Zenker

Eur J Med Genet· November 2009

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Clinical variability and expression of the NBN c.657del5 allele in Nijmegen Breakage Syndrome.
Stephan Lins, Ryong Kim, Lars Krüger, Krystyna H Chrzanowska, Eva Seemanova

Gene· November 2009

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Goltz-Gorlin (focal dermal hypoplasia) and the microphthalmia with linear skin defects (MLS) syndrome: no evidence of genetic overlap.
May-Britt Harmsen, Silvia Azzarello-Burri, M Mar García González, Gabriele Gillessen-Kaesbach, Peter Meinecke, Eva Seemanova

Eur J Hum Genet· October 2009

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Polycystic kidney and hepatic disease with mental retardation and hand anomalies in three siblings.
Tomás Seeman, Marcela Malíková, Kveta Bláhová, Eva Seemanová

Pediatr Nephrol· July 2009

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No mutation in genes of the WNT signaling pathway in patients with Zimmermann-Laband syndrome.
Benjamin Abo-Dalo, Melanie Roes, Sonia Canún, Martin Delatycki, Gabriele Gillessen-Kaesbach, Eva Seemanova

Clin Dysmorphol· July 2008

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Extreme variation in apoptosis capacity amongst lymphoid cells of Nijmegen breakage syndrome patients.
Nadja Thierfelder, Ilja Demuth, Nadine Burghardt, Karin Schmelz, Karl Sperling, Eva Seemanova

Eur J Cell Biol· February 2008

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Cancer risk of heterozygotes with the NBN founder mutation.
Eva Seemanová, Petr Jarolim, Pavel Seeman, Raymonda Varon, Martin Digweed

J Natl Cancer Inst· December 2007

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Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome.
Eva Klopocki, Harald Schulze, Gabriele Strauss, Claus-Eric Ott, Judith Hall, Eva Seemanova

Am J Hum Genet· February 2007

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Cancer incidence in Nijmegen breakage syndrome is modulated by the amount of a variant NBS protein.
Lars Krüger, Ilja Demuth, Heidemarie Neitzel, Raymonda Varon, Karl Sperling, Eva Seemanova

Carcinogenesis· January 2007

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Contiguous hemizygous deletion of TBX5, TBX3, and RBM19 resulting in a combined phenotype of Holt-Oram and ulnar-mammary syndromes.
Wiktor Borozdin, Ana M Bravo-Ferrer Acosta, Eva Seemanova, Michael Leipoldt, Michael J Bamshad

Am J Med Genet A· September 2006

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