Genetic variants in ATM, H2AFX and MRE11 genes and susceptibility to breast cancer in the polish population
Podralska, Marta, Ziółkowska-Suchanek, Iwona, Żurawek, Magdalena, Dzikiewicz-Krawczyk, Agnieszka, Słomski, Ryszard, Nowak, Jerzy, Stembalska, Agnieszka, Pesz, Karolina, Mosor, Maria
Published in BMC cancer (20.04.2018)
Published in BMC cancer (20.04.2018)
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Prenatal Diagnosis of Jeune Syndrome Caused by Compound Heterozygous Variants in DYNC2H1 Gene-Case Report with Rapid WES Procedure and Differential Diagnosis of Lethal Skeletal Dysplasias
Stembalska, Agnieszka, Rydzanicz, Małgorzata, Klaniewska, Magdalena, Dudarewicz, Lech, Pollak, Agnieszka, Biela, Mateusz, Stawinski, Piotr, Ploski, Rafal, Smigiel, Robert
Published in Genes (27.07.2022)
Published in Genes (27.07.2022)
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Spectrum of Neurological Symptoms in Glycosylphosphatidylinositol Biosynthesis Defects: Systematic Review
Paprocka, Justyna, Hutny, Michał, Hofman, Jagoda, Tokarska, Agnieszka, Kłaniewska, Magdalena, Szczałuba, Krzysztof, Stembalska, Agnieszka, Jezela-Stanek, Aleksandra, Śmigiel, Robert
Published in Frontiers in neurology (04.01.2022)
Published in Frontiers in neurology (04.01.2022)
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Prenatal Versus Postnatal Diagnosis of Meckel-Gruber and Joubert Syndrome in Patients with TMEM67 Mutations
Stembalska, Agnieszka, Rydzanicz, Małgorzata, Pollak, Agnieszka, Kostrzewa, Grazyna, Stawinski, Piotr, Biela, Mateusz, Ploski, Rafal, Smigiel, Robert
Published in Genes (16.07.2021)
Published in Genes (16.07.2021)
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Severe Infantile Axonal Neuropathy with Respiratory Failure Caused by Novel Mutation in X-Linked LAS1L Gene
Stembalska, Agnieszka, Rydzanicz, Małgorzata, Walas, Wojciech, Gasperowicz, Piotr, Pollak, Agnieszka, Pienkowski, Victor Murcia, Biela, Mateusz, Klaniewska, Magdalena, Gamrot, Zuzanna, Gronska, Ewa, Ploski, Rafal, Smigiel, Robert
Published in Genes (21.04.2022)
Published in Genes (21.04.2022)
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The C/A polymorphism in intron 11 of the XPC gene plays a crucial role in the modulation of an individual’s susceptibility to sporadic colorectal cancer
Gil, Justyna, Ramsey, Dave, Stembalska, Agnieszka, Karpinski, Pawel, Pesz, Karolina A., Laczmanska, Izabela, Leszczynski, Przemyslaw, Grzebieniak, Zygmunt, Sasiadek, Maria Malgorzata
Published in Molecular biology reports (01.01.2012)
Published in Molecular biology reports (01.01.2012)
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Breakpoint Mapping of Symptomatic Balanced Translocations Links the EPHA6 , KLF13 and UBR3 Genes to Novel Disease Phenotype
Murcia Pienkowski, Victor, Kucharczyk, Marzena, Rydzanicz, Małgorzata, Poszewiecka, Barbara, Pachota, Katarzyna, Młynek, Marlena, Stawiński, Piotr, Pollak, Agnieszka, Kosińska, Joanna, Wojciechowska, Katarzyna, Lejman, Monika, Cieślikowska, Agata, Wicher, Dorota, Stembalska, Agnieszka, Matuszewska, Karolina, Materna-Kiryluk, Anna, Gambin, Anna, Chrzanowska, Krystyna, Krajewska-Walasek, Małgorzata, Płoski, Rafał
Published in Journal of clinical medicine (25.04.2020)
Published in Journal of clinical medicine (25.04.2020)
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Journal Article
Cancer stem cells: the theory and perspectives in cancer therapy
Gil, Justyna, Stembalska, Agnieszka, Pesz, Karolina A., Sąsiadek, Maria M.
Published in Journal of applied genetics (01.01.2008)
Published in Journal of applied genetics (01.01.2008)
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Journal Article
Cyclin D1 and MLH1 Levels in Laryngeal Cancer are Linked to Chromosomal Imbalance
SASIADEK, Maria M, SMIGIEL, Robert, STEMBALSKA, Agnieszka, RAMSEY, David, BLIN, Nikolaus
Published in Anticancer research (01.11.2006)
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Published in Anticancer research (01.11.2006)
Journal Article
Mutations spectrum in hereditary disorders predisposing to occurrence of intestine polyposis in Poland
Plawski, Andrzej, Boruń, Paweł, Banasiewicz, Tomasz, Paszkowski, Jacek, Stembalska, Agnieszka, Sąsiadek, Maria, Siołek, Monika, Kozak - Klonowska, Beata, Brozek, Izabela, Limon, Janusz, Nowakowska, Dorota, Kurzawski, Grzegorz, Byrski, Tomasz, Gach, Tomasz, Hodorowicz-Zaniewska, Diana, Bartkowiak, Anna, Slomski, Ryszad, Czkwianianc, Elżbieta, Linke, Krzysztof, Grzybowska, Ewa, Lącka-Wojciechowska, Arleta, Szwiec, Marek, Więcek, Sabina, żabka, Alicja, Synowiec, Agnieszka, Jakubiuk-Tomaszuk, Anna, Skalski, Robert, Lubinski, Jan, Krokowicz, Piotr, Blecharz, Paweł, Teisseyre, Mikołaj, Drews, Michal, Cichy, Wojciech
Published in Hereditary cancer in clinical practice (10.12.2012)
Published in Hereditary cancer in clinical practice (10.12.2012)
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In-silico analysis of Thr767Ile pathogenic variant in the MSH6 gene in family with endometrial cancer
Stembalska, Agnieszka, Klapecki, Jakub, Pławski, Andrzej, Karpinski, Paweł
Published in European journal of obstetrics & gynecology and reproductive biology (01.07.2019)
Published in European journal of obstetrics & gynecology and reproductive biology (01.07.2019)
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Journal Article
Diagnosis and management in Pitt‐Hopkins syndrome: First international consensus statement
Zollino, Marcella, Zweier, Christiane, Van Balkom, Ingrid D., Sweetser, David A., Alaimo, Joseph, Bijlsma, Emilia K., Cody, Jannine, Elsea, Sarah H., Giurgea, Irina, Macchiaiolo, Marina, Smigiel, Robert, Thibert, Ronald L., Benoist, Ingrid, Clayton‐Smith, Jill, De Winter, Channa F., Deckers, Stijn, Gandhi, Anusha, Huisman, Sylvia, Kempink, Dagmar, Kruisinga, Frea, Lamacchia, Vittoria, Marangi, Giuseppe, Menke, Leonie, Mulder, Paul, Nordgren, Ann, Renieri, Alessandra, Routledge, Sue, Saunders, Carol J., Stembalska, Agnieszka, Van Balkom, Hans, Whalen, Sandra, Hennekam, Raoul C.
Published in Clinical genetics (01.04.2019)
Published in Clinical genetics (01.04.2019)
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Journal Article
PALB2 mutations and prostate cancer risk and survival
Wokołorczyk, Dominika, Kluźniak, Wojciech, Stempa, Klaudia, Rusak, Bogna, Huzarski, Tomasz, Gronwald, Jacek, Gliniewicz, Katarzyna, Kashyap, Aniruddh, Morawska, Sylwia, Dębniak, Tadeusz, Jakubowska, Anna, Szwiec, Marek, Domagała, Paweł, Lubiński, Jan, Narod, Steven A, Akbari, Mohammad R, Cybulski, Cezary
Published in British journal of cancer (17.08.2021)
Published in British journal of cancer (17.08.2021)
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Journal Article
Prenatal Diagnosis of Jeune Syndrome Caused by Compound Heterozygous Variants in IDYNC2H1/I Gene—Case Report with Rapid WES Procedure and Differential Diagnosis of Lethal Skeletal Dysplasias
Stembalska, Agnieszka, Rydzanicz, Małgorzata, Klaniewska, Magdalena, Dudarewicz, Lech, Pollak, Agnieszka, Biela, Mateusz, Stawinski, Piotr, Ploski, Rafal, Smigiel, Robert
Published in Genes (01.07.2022)
Published in Genes (01.07.2022)
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