Destabilization of mutated human PUS3 protein causes intellectual disability
Lin, Ting‐Yu, Smigiel, Robert, Kuzniewska, Bozena, Chmielewska, Joanna J., Kosińska, Joanna, Biela, Mateusz, Biela, Anna, Kościelniak, Anna, Dobosz, Dominika, Laczmanska, Izabela, Chramiec‐Głąbik, Andrzej, Jeżowski, Jakub, Nowak, Jakub, Gos, Monika, Rzonca‐Niewczas, Sylwia, Dziembowska, Magdalena, Ploski, Rafał, Glatt, Sebastian
Published in Human mutation (01.12.2022)
Published in Human mutation (01.12.2022)
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WDR13 : A Novel Gene Implicated in Non-Syndromic Intellectual Disability
Rzońca-Niewczas, Sylwia, Wierzba, Jolanta, Kaczorowska, Ewa, Poryszewska, Milena, Kosińska, Joanna, Stawiński, Piotr, Płoski, Rafał, Bal, Jerzy
Published in Genes (28.11.2021)
Published in Genes (28.11.2021)
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Rare GABRA3 variants are associated with epileptic seizures, encephalopathy and dysmorphic features
Niturad, Cristina Elena, Lev, Dorit, Kalscheuer, Vera M, Charzewska, Agnieszka, Schubert, Julian, Lerman-Sagie, Tally, Kroes, Hester Y, Oegema, Renske, Traverso, Monica, Specchio, Nicola, Lassota, Maria, Chelly, Jamel, Bennett-Back, Odeya, Carmi, Nirit, Koffler-Brill, Tal, Iacomino, Michele, Trivisano, Marina, Capovilla, Giuseppe, Striano, Pasquale, Nawara, Magdalena, Rzonca, Sylwia, Fischer, Ute, Bienek, Melanie, Jensen, Corinna, Hu, Hao, Thiele, Holger, Altmüller, Janine, Krause, Roland, May, Patrick, Becker, Felicitas, Balling, Rudi, Biskup, Saskia, Haas, Stefan A, Nürnberg, Peter, van Gassen, Koen L I, Lerche, Holger, Zara, Federico, Maljevic, Snezana, Leshinsky-Silver, Esther
Published in Brain (London, England : 1878) (01.11.2017)
Published in Brain (London, England : 1878) (01.11.2017)
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FRMPD4 mutations cause X-linked intellectual disability and disrupt dendritic spine morphogenesis
Piard, Juliette, Hu, Jia-Hua, Campeau, Philippe M, Rzońca, Sylwia, Van Esch, Hilde, Vincent, Elizabeth, Han, Mei, Rossignol, Elsa, Castaneda, Jennifer, Chelly, Jamel, Skinner, Cindy, Kalscheuer, Vera M, Wang, Ruihua, Lemyre, Emmanuelle, Kosińska, Joanna, Stawinski, Piotr, Bal, Jerzy, Hoffman, Dax A, Schwartz, Charles E, Van Maldergem, Lionel, Wang, Tao, Worley, Paul F
Published in Human molecular genetics (15.02.2018)
Published in Human molecular genetics (15.02.2018)
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Towards a Better Molecular Diagnosis of FMR1-Related Disorders-A Multiyear Experience from a Reference Lab
Rzońca, Sylwia Olimpia, Gos, Monika, Szopa, Daniel, Sielska-Rotblum, Danuta, Landowska, Aleksandra, Szpecht-Potocka, Agnieszka, Milewski, Michał, Czekajska, Jolanta, Abramowicz, Anna, Obersztyn, Ewa, Maciejko, Dorota, Mazurczak, Tadeusz, Bal, Jerzy
Published in Genes (02.09.2016)
Published in Genes (02.09.2016)
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A Patient with Berardinelli-Seip Syndrome, Novel AGPAT2 Splicesite Mutation and Concomitant Development of Non-diabetic Polyneuropathy
Oswiecimska, Joanna, Dawidziuk, Mateusz, Gambin, Tomasz, Ziora, Katarzyna, Marek, Marta, Rzonca, Sylwia, Guilbride, D. Lys, Jhangiani, Shalini N., Obuchowicz, Anna, Sikora, Alicja, Lupski, James R., Wiszniewski, Wojciech, Gawlinski, Pawel
Published in Journal of clinical research in pediatric endocrinology (01.09.2019)
Published in Journal of clinical research in pediatric endocrinology (01.09.2019)
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Netoglitazone is a PPAR-gamma ligand with selective effects on bone and fat
Lazarenko, Oxana P., Rzonca, Sylwia O., Suva, Larry J., Lecka-Czernik, Beata
Published in Bone (New York, N.Y.) (01.01.2006)
Published in Bone (New York, N.Y.) (01.01.2006)
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The Generation of Human iPSC Lines from Three Individuals with Dravet Syndrome and Characterization of Neural Differentiation Markers in iPSC-Derived Ventral Forebrain Organoid Model
Zayat, Valery, Kuczynska, Zuzanna, Liput, Michal, Metin, Erkan, Rzonca-Niewczas, Sylwia, Smyk, Marta, Mazurczak, Tomasz, Goszczanska-Ciuchta, Alicja, Leszczynski, Pawel, Hoffman-Zacharska, Dorota, Buzanska, Leonora
Published in Cells (Basel, Switzerland) (16.01.2023)
Published in Cells (Basel, Switzerland) (16.01.2023)
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Soluble TNF-α Receptor I Encoded on Plasmid Vector and Its Application in Experimental Gene Therapy of Radiation-Induced Lung Fibrosis
Przybyszewska, Małgorzata, Miłoszewska, Joanna, Rzońca, Sylwia, Trembacz, Halina, Pyśniak, Kazimiera, Kotlarz, Agnieszka, Swoboda, Paweł, Zalewska, Marta, Małecki, Maciej
Published in Archivum Immunologiae et Therapiae Experimentalis (01.08.2011)
Published in Archivum Immunologiae et Therapiae Experimentalis (01.08.2011)
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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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Molecular analysis of inherited disorders of cornification in polish patients show novel variants and functional data and provokes questions on the significance of secondary findings
Wertheim-Tysarowska, Katarzyna, Osipowicz, Katarzyna, Woźniak, Katarzyna, Sawicka, Justyna, Mika, Adrianna, Kutkowska-Kaźmierczak, Anna, Niepokój, Katarzyna, Sobczyńska-Tomaszewska, Agnieszka, Wawrzycki, Bartłomiej, Pietrzak, Aldona, Śmigiel, Robert, Wojtaś, Bartosz, Gielniewski, Bartłomiej, Szabelska-Beresewicz, Alicja, Zyprych-Walczak, Joanna, Rygiel, Agnieszka Magdalena, Domaszewicz, Alicja, Braun-Walicka, Natalia, Grabarczyk, Alicja, Rzońca-Niewczas, Sylwia, Lidia, Ruszkowska, Dawidziuk, Mateusz, Domański, Dominik, Gambin, Tomasz, Jackiewicz, Monika, Duk, Katarzyna, Dorożko, Barbara, Szczygielski, Orest, Krześniak, Natalia, Noszczyk, Bartłomiej H, Obersztyn, Ewa, Wierzba, Jolanta, Barczyk, Artur, Castaneda, Jennifer, Eckersdorf-Mastalerz, Anna, Jakubiuk-Tomaszuk, Anna, Własienko, Paweł, Jaszczuk, Ilona, Jezela-Stanek, Aleksandra, Klapecki, Jakub, van Geel, Michel, Kowalewski, Cezary, Bal, Jerzy, Gostyński, Antoni
Published in Orphanet journal of rare diseases (05.11.2024)
Published in Orphanet journal of rare diseases (05.11.2024)
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The MED13L haploinsufficiency syndrome associated with de novo nonsense variant (P.GLN1981)
Dawidziuk, Mateusz, Kutkowska-Kaźmierczak, Anna, Gawliński, Paweł, Wiszniewski, Wojciech, Gos, Monika, Stawiński, Piotr, Rydzanicz, Małgorzata, Kosińska, Joanna, Własienko, Paweł, Malinowska Kordowska, Olga, Bartnik-Głaska, Magdalena, Bernaciak, Joanna, Szczałuba, Krzysztof, Bekiesińska-Figatowska, Monika, Płoski, Rafał, Bal, Jerzy, Olimpia Rzońca-Niewczas, Sylwia
Published in Journal of Mother and Child (30.04.2021)
Published in Journal of Mother and Child (30.04.2021)
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Berardinelli-Seip syndrome patient with novel AGPAT2 splicesite mutation and concomitant development of non-diabetic polyneuropathy
Oswiecimska, Joanna, Dawidziuk, Mateusz, Gambin, Tomasz, Ziora, Katarzyna, Marek, Marta, Rzonca, Sylwia, Guilbride, D. Lys, Jhangiani, Shalini N., Obuchowicz, Anna, Sikora, Alicja, Lupski, James R., Wiszniewski, Wojciech, Gawlinski, Pawel
Published in Journal of clinical research in pediatric endocrinology (19.12.2018)
Published in Journal of clinical research in pediatric endocrinology (19.12.2018)
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