Mutations in SMARCB1 and in other Coffin–Siris syndrome genes lead to various brain midline defects
Filatova, Alina, Rey, Linda K., Lechler, Marion B., Schaper, Jörg, Hempel, Maja, Posmyk, Renata, Szczaluba, Krzysztof, Santen, Gijs W. E., Wieczorek, Dagmar, Nuber, Ulrike A.
Published in Nature communications (04.07.2019)
Published in Nature communications (04.07.2019)
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Journal Article
Frequency of thrombophilia associated genes variants: population-based study
Wawrusiewicz-Kurylonek, Natalia, KrÄtowski, Adam Jacek, Posmyk, Renata
Published in BMC medical genetics (09.10.2020)
Published in BMC medical genetics (09.10.2020)
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Journal Article
Compound heterozygous IFT140 variants in two Polish families with Sensenbrenner syndrome and early onset end-stage renal disease
Walczak-Sztulpa, Joanna, Posmyk, Renata, Bukowska-Olech, Ewelina M, Wawrocka, Anna, Jamsheer, Aleksander, Oud, Machteld M, Schmidts, Miriam, Arts, Heleen H, Latos-Bielenska, Anna, Wasilewska, Anna
Published in Orphanet journal of rare diseases (01.02.2020)
Published in Orphanet journal of rare diseases (01.02.2020)
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Journal Article
The FOXP3 rs3761547 Gene Polymorphism in Multiple Sclerosis as a Male-Specific Risk Factor
Wawrusiewicz-Kurylonek, Natalia, Chorąży, Monika, Posmyk, Renata, Zajkowska, Olga, Zajkowska, Agata, Krętowski, Adam Jacek, Tarasiuk, Joanna, Kochanowicz, Jan, Kułakowska, Alina
Published in Neuromolecular medicine (01.12.2018)
Published in Neuromolecular medicine (01.12.2018)
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Journal Article
Contribution of RIT1 mutations to the pathogenesis of Noonan syndrome: Four new cases and further evidence of heterogeneity
Gos, Monika, Fahiminiya, Somayyeh, Poznański, Jarosław, Klapecki, Jakub, Obersztyn, Ewa, Piotrowicz, Małgorzata, Wierzba, Jolanta, Posmyk, Renata, Bal, Jerzy, Majewski, Jacek
Published in American journal of medical genetics. Part A (01.09.2014)
Published in American journal of medical genetics. Part A (01.09.2014)
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Journal Article
Variants of Novel Immunomodulatory Fc Receptor Like 5 Gene Are Associated With Multiple Sclerosis Susceptibility in the Polish Population
Chorazy, Monika, Wawrusiewicz-Kurylonek, Natalia, Adamska-Patruno, Edyta, Czarnowska, Agata, Zajkowska, Olga, Kapica-Topczewska, Katarzyna, Posmyk, Renata, Kretowski, Adam Jacek, Kochanowicz, Jan, Kułakowska, Alina
Published in Frontiers in neurology (06.04.2021)
Published in Frontiers in neurology (06.04.2021)
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Journal Article
Some Common SNPs of the T-Cell Homeostasis-Related Genes Are Associated with Multiple Sclerosis, but Not with the Clinical Manifestations of the Disease, in the Polish Population
Kułakowska, Alina, Kochanowicz, Jan, Posmyk, Renata, Kapica-Topczewska, Katarzyna, Zajkowska, Olga, Adamska-Patruno, Edyta, Wawrusiewicz-Kurylonek, Natalia, Chorąży, Monika, Krętowski, Adam Jacek
Published in Journal of immunology research (2020)
Published in Journal of immunology research (2020)
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Journal Article
Antioxidant Properties of Zinc and Copper-Blood Zinc-to Copper-Ratio as a Marker of Cancer Risk BRCA1 Mutation Carriers
Matuszczak, Milena, Kiljańczyk, Adam, Marciniak, Wojciech, Derkacz, Róża, Stempa, Klaudia, Baszuk, Piotr, Bryśkiewicz, Marta, Cybulski, Cezary, Dębniak, Tadeusz, Gronwald, Jacek, Huzarski, Tomasz, Lener, Marcin, Jakubowska, Anna, Szwiec, Marek, Stawicka-Niełacna, Małgorzata, Godlewski, Dariusz, Prusaczyk, Artur, Jasiewicz, Andrzej, Kluz, Tomasz, Tomiczek-Szwiec, Joanna, Kilar-Kobierzycka, Ewa, Siołek, Monika, Wiśniowski, Rafał, Posmyk, Renata, Jarkiewicz-Tretyn, Joanna, Scott, Rodney, Lubiński, Jan
Published in Antioxidants (14.07.2024)
Published in Antioxidants (14.07.2024)
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Journal Article
PEHO Syndrome May Represent Phenotypic Expansion at the Severe End of the Early-Onset Encephalopathies
Gawlinski, Pawel, PhD, Posmyk, Renata, MD, Gambin, Tomasz, PhD, Sielicka, Danuta, MD, Chorazy, Monika, MD, Nowakowska, Beata, PhD, Jhangiani, Shalini N., MSc, Muzny, Donna M., MSc, Bekiesinska-Figatowska, Monika, MD, PhD, Bal, Jerzy, PhD, Boerwinkle, Eric, PhD, Gibbs, Richard A., PhD, Lupski, James R., MD, PhD, DSc (hon), Wiszniewski, Wojciech, MD, PhD
Published in Pediatric neurology (01.07.2016)
Published in Pediatric neurology (01.07.2016)
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Journal Article
Wolf-Hirschhorn syndrome due to pure and translocation forms of monosomy 4p16.1 → pter
Iwanowski, Piotr S., Panasiuk, Barbara, Van Buggenhout, Griet, Murdolo, Marina, Myśliwiec, Marta, Maas, Nicole M.C., Lattante, Serena, Korniszewski, Lech, Posmyk, Renata, Pilch, Jacek, Zajączek, Stanislaw, Fryns, Jean-Pierre, Zollino, Marcella, Midro, Alina T.
Published in American journal of medical genetics. Part A (01.08.2011)
Published in American journal of medical genetics. Part A (01.08.2011)
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Journal Article
Salivary Gland Function, Antioxidant Defence and Oxidative Damage in the Saliva of Patients with Breast Cancer: Does the BRCA1 Mutation Disturb the Salivary Redox Profile?
Sawczuk, Beata, Maciejczyk, Mateusz, Sawczuk-Siemieniuk, Magdalena, Posmyk, Renata, Zalewska, Anna, Car, Halina
Published in Cancers (08.10.2019)
Published in Cancers (08.10.2019)
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Journal Article
Pharmacogenomics, How to Deal with Different Types of Variants in Next Generation Sequencing Data in the Personalized Medicine Area
Tafazoli, Alireza, Wawrusiewicz-Kurylonek, Natalia, Posmyk, Renata, Miltyk, Wojciech
Published in Journal of clinical medicine (24.12.2020)
Published in Journal of clinical medicine (24.12.2020)
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Journal Article
WRN Mutation Update: Mutation Spectrum, Patient Registries, and Translational Prospects
Yokote, Koutaro, Chanprasert, Sirisak, Lee, Lin, Eirich, Katharina, Takemoto, Minoru, Watanabe, Aki, Koizumi, Naoko, Lessel, Davor, Mori, Takayasu, Hisama, Fuki M., Ladd, Paula D., Angle, Brad, Baris, Hagit, Cefle, Kivanc, Palanduz, Sukru, Ozturk, Sukru, Chateau, Antoinette, Deguchi, Kentaro, Easwar, T.K.M, Federico, Antonio, Fox, Amy, Grebe, Theresa A., Hay, Beverly, Nampoothiri, Sheela, Seiter, Karen, Streeten, Elizabeth, Piña‐Aguilar, Raul E., Poke, Gemma, Poot, Martin, Posmyk, Renata, Martin, George M., Kubisch, Christian, Schindler, Detlev, Oshima, Junko
Published in Human mutation (01.01.2017)
Published in Human mutation (01.01.2017)
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Journal Article
Expanding the genetics and phenotypic spectrum of Lysine-specific demethylase 5C (KDM5C): a report of 13 novel variants
Leonardi, Emanuela, Aspromonte, Maria Cristina, Drongitis, Denise, Bettella, Elisa, Verrillo, Lucia, Polli, Roberta, McEntagart, Meriel, Licchetta, Laura, Dilena, Robertino, D'Arrigo, Stefano, Ciaccio, Claudia, Esposito, Silvia, Leuzzi, Vincenzo, Torella, Annalaura, Baldo, Demetrio, Lonardo, Fortunato, Bonato, Giulia, Pellegrin, Serena, Stanzial, Franco, Posmyk, Renata, Kaczorowska, Ewa, Carecchio, Miryam, Gos, Monika, Rzońca-Niewczas, Sylwia, Miano, Maria Giuseppina, Murgia, Alessandra
Published in European journal of human genetics : EJHG (01.02.2023)
Published in European journal of human genetics : EJHG (01.02.2023)
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Journal Article
Loss-of-Function Mutations in TBC1D20 Cause Cataracts and Male Infertility in blind sterile Mice and Warburg Micro Syndrome in Humans
Liegel, Ryan P., Handley, Mark T., Ronchetti, Adam, Brown, Stephen, Langemeyer, Lars, Linford, Andrea, Chang, Bo, Morris-Rosendahl, Deborah J., Carpanini, Sarah, Posmyk, Renata, Harthill, Verity, Sheridan, Eamonn, Abdel-Salam, Ghada M.H., Terhal, Paulien A., Faravelli, Francesca, Accorsi, Patrizia, Giordano, Lucio, Pinelli, Lorenzo, Hartmann, Britta, Ebert, Allison D., Barr, Francis A., Aligianis, Irene A., Sidjanin, Duska J.
Published in American journal of human genetics (05.12.2013)
Published in American journal of human genetics (05.12.2013)
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Journal Article
Mutations in ZBTB20 cause Primrose syndrome
Cordeddu, Viviana, Redeker, Bert, Stellacci, Emilia, Jongejan, Aldo, Fragale, Alessandra, Bradley, Ted E J, Anselmi, Massimiliano, Ciolfi, Andrea, Cecchetti, Serena, Muto, Valentina, Bernardini, Laura, Azage, Meron, Carvalho, Daniel R, Espay, Alberto J, Male, Alison, Molin, Anna-Maja, Posmyk, Renata, Battisti, Carla, Casertano, Alberto, Melis, Daniela, van Kampen, Antoine, Baas, Frank, Mannens, Marcel M, Bocchinfuso, Gianfranco, Stella, Lorenzo, Tartaglia, Marco, Hennekam, Raoul C
Published in Nature genetics (01.08.2014)
Published in Nature genetics (01.08.2014)
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Journal Article
Primrose syndrome: Characterization of the phenotype in 42 patients
Melis, Daniela, Carvalho, Daniel, Barbaro‐Dieber, Tina, Espay, Alberto J., Gambello, Michael J., Gener, Blanca, Gerkes, Erica, Hitzert, Marrit M., Hove, Hanne B., Jansen, Sandra, Jira, Petr E., Lachlan, Katherine, Menke, Leonie A., Narayanan, Vinodh, Ortiz, Damara, Overwater, Eline, Posmyk, Renata, Ramsey, Keri, Rossi, Alessandro, Sandoval, Renata Lazari, Stumpel, Constance, Stuurman, Kyra E., Cordeddu, Viviana, Turnpenny, Peter, Strisciuglio, Pietro, Tartaglia, Marco, Unger, Sheela, Waters, Todd, Turnbull, Clare, Hennekam, Raoul C.
Published in Clinical genetics (01.06.2020)
Published in Clinical genetics (01.06.2020)
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Journal Article
Mapping of breakpoints in balanced chromosomal translocations by shallow whole-genome sequencing points to EFNA5, BAHD1 and PPP2R5E as novel candidates for genes causing human Mendelian disorders
Murcia Pienkowski, Victor, Kucharczyk, Marzena, Młynek, Marlena, Szczałuba, Krzysztof, Rydzanicz, Małgorzata, Poszewiecka, Barbara, Skórka, Agata, Sykulski, Maciej, Biernacka, Anna, Koppolu, Agnieszka Anna, Posmyk, Renata, Walczak, Anna, Kosińska, Joanna, Krajewski, Paweł, Castaneda, Jennifer, Obersztyn, Ewa, Jurkiewicz, Elżbieta, Śmigiel, Robert, Gambin, Anna, Chrzanowska, Krystyna, Krajewska-Walasek, Małgorzata, Płoski, Rafał
Published in Journal of medical genetics (01.02.2019)
Published in Journal of medical genetics (01.02.2019)
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Journal Article
Blood Lead Level as Marker of Increased Risk of Ovarian Cancer in BRCA1 Carriers
Kiljańczyk, Adam, Matuszczak, Milena, Marciniak, Wojciech, Derkacz, Róża, Stempa, Klaudia, Baszuk, Piotr, Bryśkiewicz, Marta, Lubiński, Krzysztof, Cybulski, Cezary, Dębniak, Tadeusz, Gronwald, Jacek, Huzarski, Tomasz, Lener, Marcin R, Jakubowska, Anna, Szwiec, Marek, Stawicka-Niełacna, Małgorzata, Godlewski, Dariusz, Prusaczyk, Artur, Jasiewicz, Andrzej, Kluz, Tomasz, Tomiczek-Szwiec, Joanna, Kilar-Kobierzycka, Ewa, Siołek, Monika, Wiśniowski, Rafał, Posmyk, Renata, Jarkiewicz-Tretyn, Joanna, Sun, Ping, Scott, Rodney J, Narod, Steven A, Lubiński, Jan
Published in Nutrients (30.04.2024)
Published in Nutrients (30.04.2024)
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Journal Article
Breast cancer in an 18-year-old female: A fatal case report and literature review
Jóźwik, Maciej, Posmyk, Renata, Jóźwik, Marcin, Semczuk, Andrzej, Gogiel-Shields, Magdalena, Kuś-Słowińska, Marta, Garbowicz, Magdalena, Klukowski, Mark, Wojciechowicz, Jacek
Published in Cancer biology & therapy (03.07.2018)
Published in Cancer biology & therapy (03.07.2018)
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Journal Article