A novel TPM2 gene splice-site mutation causes severe congenital myopathy with arthrogryposis and dysmorphic features

מאת Mroczek, Magdalena, Kabzińska, Dagmara, Chrzanowska, Krystyna H., Pronicki, Maciej, Kochański, Andrzej
הוצא לאור ב J Appl Genet (2016)

Nijmegen breakage syndrome (NBS)

מאת Chrzanowska, Krystyna H, Gregorek, Hanna, Dembowska-Bagińska, Bożenna, Kalina, Maria A, Digweed, Martin
יצא לאור 2012

The phenotype‐driven computational analysis yields clinical diagnosis for patients with atypical manifestations of known intellectual disability syndromes

מאת Jezela‐Stanek, Aleksandra, Ciara, Elżbieta, Jurkiewicz, Dorota, Kucharczyk, Marzena, Jędrzejowska, Maria, Chrzanowska, Krystyna H., Krajewska‐Walasek, Małgorzata, Żemojtel, Tomasz
הוצא לאור ב Mol Genet Genomic Med (2020)

Immortalization of T-Cells Is Accompanied by Gradual Changes in CpG Methylation Resulting in a Profile Resembling a Subset of T-Cell Leukemias()()()

מאת Degerman, Sofie, Landfors, Mattias, Siwicki, Jan Konrad, Revie, John, Borssén, Magnus, Evelönn, Emma, Forestier, Erik, Chrzanowska, Krystyna H., Rydén, Patrik, Keith, W. Nicol, Roos, Göran
יצא לאור 2014

DNA damage and transcriptional regulation in iPSC-derived neurons from Ataxia Telangiectasia patients

מאת Corti, Alessandro, Sota, Raina, Dugo, Matteo, Calogero, Raffaele A., Terragni, Benedetta, Mantegazza, Massimo, Franceschetti, Silvana, Restelli, Michela, Gasparini, Patrizia, Lecis, Daniele, Chrzanowska, Krystyna H., Delia, Domenico
הוצא לאור ב Sci Rep (2019)

Warsaw Breakage Syndrome, a Cohesinopathy Associated with Mutations in the XPD Helicase Family Member DDX11/ChlR1

מאת van der Lelij, Petra, Chrzanowska, Krystyna H., Godthelp, Barbara C., Rooimans, Martin A., Oostra, Anneke B., Stumm, Markus, Zdzienicka, Małgorzata Z., Joenje, Hans, de Winter, Johan P.
יצא לאור 2010

A Regulatory Role for NBS1 in Strand-Specific Mutagenesis during Somatic Hypermutation

מאת Du, Likun, Dunn-Walters, Deborah K., Chrzanowska, Krystyna H., Stankovic, Tanja, Kotnis, Ashwin, Li, Xin, Lu, Jiayi, Eggertsen, Gösta, Brittain, Claire, Popov, Sergey W., Gennery, Andrew R., Taylor, A. Malcolm R., Pan-Hammarström, Qiang
יצא לאור 2008

Non-syndromic inherited retinal diseases in Poland: Genes, mutations, and phenotypes

מאת Tracewska, Anna M., Kocyła-Karczmarewicz, Beata, Rafalska, Agnieszka, Murawska, Joanna, Jakubaszko-Jabłońska, Joanna, Rydzanicz, Małgorzata, Stawiński, Piotr, Ciara, Elżbieta, Lipska-Ziętkiewicz, Beata S., Khan, Muhammad Imran, Cremers, Frans P.M., Płoski, Rafał, Chrzanowska, Krystyna H.
הוצא לאור ב Mol Vis (2021)

Circulating T Cells of Patients with Nijmegen Breakage Syndrome Show Signs of Senescence

מאת Meijers, Ruud W. J., Dzierzanowska-Fangrat, Katarzyna, Zborowska, Magdalena, Solarska, Iwona, Tielemans, Dennis, van Turnhout, Bob A. C., Driessen, Gertjan, van der Burg, Mirjam, van Dongen, Jacques J. M., Chrzanowska, Krystyna H., Langerak, Anton W.
הוצא לאור ב J Clin Immunol (2016)

Correction to: Circulating T Cells of Patients with Nijmegen Breakage Syndrome Show Signs of Senescence

מאת Meijers, Ruud W. J., Dzierzanowska-Fangrat, Katarzyna, Zborowska, Magdalena, Solarska, Iwona, Tielemans, Dennis, van Turnhout, Bob A. C., Driessen, Gertjan, van der Burg, Mirjam, van Dongen, Jacques J. M., Chrzanowska, Krystyna H., Langerak, Anton W.
הוצא לאור ב J Clin Immunol (2018)

The germline variants in DNA repair genes in pediatric medulloblastoma: a challenge for current therapeutic strategies

מאת Trubicka, Joanna, Żemojtel, Tomasz, Hecht, Jochen, Falana, Katarzyna, Piekutowska- Abramczuk, Dorota, Płoski, Rafał, Perek-Polnik, Marta, Drogosiewicz, Monika, Grajkowska, Wiesława, Ciara, Elżbieta, Moszczyńska, Elżbieta, Dembowska-Bagińska, Bożenna, Perek, Danuta, Chrzanowska, Krystyna H., Krajewska-Walasek, Małgorzata, Łastowska, Maria
הוצא לאור ב BMC Cancer (2017)

Allelic Heterogeneity in the COH1 Gene Explains Clinical Variabilityin Cohen Syndrome

מאת Hennies, Hans Christian, Rauch, Anita, Seifert, Wenke, Schumi, Christian, Moser, Elisabeth, Al-Taji, Eva, Tariverdian, Gholamali, Chrzanowska, Krystyna H., Krajewska-Walasek, Malgorzata, Rajab, Anna, Giugliani, Roberto, Neumann, Thomas E., Eckl, Katja M., Karbasiyan, Mohsen, Reis, André, Horn, Denise
יצא לאור 2004

Genetic Spectrum of ABCA4-Associated Retinal Degeneration in Poland

מאת Tracewska, Anna M., Kocyła-Karczmarewicz, Beata, Rafalska, Agnieszka, Murawska, Joanna, Jakubaszko-Jablonska, Joanna, Rydzanicz, Małgorzata, Stawiński, Piotr, Ciara, Elżbieta, Khan, Muhammad Imran, Henkes, Arjen, Hoischen, Alexander, Gilissen, Christian, van de Vorst, Maartje, Cremers, Frans P. M., Płoski, Rafał, Chrzanowska, Krystyna H.
הוצא לאור ב Genes (Basel) (2019)

The Slavic NBN Founder Mutation: A Role for Reproductive Fitness?

מאת Seemanova, Eva, Varon, Raymonda, Vejvalka, Jan, Jarolim, Petr, Seeman, Pavel, Chrzanowska, Krystyna H., Digweed, Martin, Resnick, Igor, Kremensky, Ivo, Saar, Kathrin, Hoffmann, Katrin, Dutrannoy, Véronique, Karbasiyan, Mohsen, Ghani, Mehdi, Barić, Ivo, Tekin, Mustafa, Kovacs, Peter, Krawczak, Michael, Reis, André, Sperling, Karl, Nothnagel, Michael
הוצא לאור ב PLoS One (2016)