Frontometaphyseal dysplasia: Mutations in FLNA and phenotypic diversity
Robertson, Stephen P., Jenkins, Zandra A., Morgan, Timothy, Adès, Lesley, Aftimos, Salim, Boute, Odile, Fiskerstrand, Torunn, Garcia-Miñaur, Sixto, Grix, Arthur, Green, Andrew, Kaloustian, Vazken Der, Lewkonia, Ray, McInnes, Brenda, van Haelst, Mieke M., Macini, Grazia, Illés, Tamás, Mortier, Geert, Newbury-Ecob, Ruth, Nicholson, Linda, Scott, Charles I., Ochman, Karolina, Brożek, Izabela, Shears, Deborah J., Superti-Furga, Andrea, Suri, Mohnish, Whiteford, Margo, Wilkie, Andrew O.M., Krakow, Deborah
Published in American journal of medical genetics. Part A (15.08.2006)
Published in American journal of medical genetics. Part A (15.08.2006)
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BRCA1 and BRCA2 mutation analysis in breast-ovarian cancer families from northeastern Poland
Perkowska, Magdalena, BroŻek, Izabela, Wysocka, Barbara, Haraldsson, Karin, Sandberg, Therese, Johansson, Ulla, Sellberg, Gunilla, Borg, Ake, Limon, Janusz
Published in Human mutation (01.05.2003)
Published in Human mutation (01.05.2003)
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Frontometaphyseal dysplasia: Mutations in FLNA and phenotypic diversity (Am J Med Genet 140A: 1726-1736)
Robertson, Stephen P., Jenkins, Zandra A., Morgan, Timothy, Adès, Lesley, Aftimos, Salim, Boute, Odile, Fiskerstrand, Torunn, Garcia-Miñaur, Sixto, Grix, Arthur, Green, Andrew, Kaloustian, Vazken Der, Lewkonia, Ray, McInnes, Brenda, van Haelst, Mieke M., Macini, Grazia, Illés, Tamás, Mortier, Geert, Newbury-Ecob, Ruth, Nicholson, Linda, Scott, Charles I., Ochman, Karolina, Brożek, Izabela, Shears, Deborah J., Superti-Furga, Andrea, Suri, Mohnish, Whiteford, Margo, Wilkie, Andrew O.M., Krakow, Deborah
Published in American journal of medical genetics. Part A (15.12.2006)
Published in American journal of medical genetics. Part A (15.12.2006)
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High frequency of BRCA1/2 germline mutations in consecutive ovarian cancer patients in Poland
Brozek, Izabela, Ochman, Karolina, Debniak, Jarosław, Morzuch, Lucyna, Ratajska, Magdalena, Stepnowska, Magdalena, Stukan, Maciej, Emerich, Janusz, Limon, Janusz
Published in Gynecologic oncology (01.02.2008)
Published in Gynecologic oncology (01.02.2008)
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Microdeletion of Target Sites for Insulator Protein CTCF in a Chromosome 11p15 Imprinting Center in Beckwith-Wiedemann Syndrome and Wilms' Tumor
Prawitt, Dirk, Enklaar, Thorsten, Gärtner-Rupprecht, Barbara, Spangenberg, Christian, Oswald, Monika, Lausch, Ekkehart, Schmidtke, Peter, Reutzel, Dirk, Fees, Stephan, Lucito, Rob, Korzon, Maria, Brozek, Izabela, Limon, Janusz, Housman, David E., Pelletier, Jerry, Zabel, Bernhard
Published in Proceedings of the National Academy of Sciences - PNAS (15.03.2005)
Published in Proceedings of the National Academy of Sciences - PNAS (15.03.2005)
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Are bilateral breast cancers different from breast cancers coexisting with ovarian cancer? An immunohistochemical analysis aimed at intrinsic tumor phenotype
Senkus, Elżbieta, Szade, Jolanta, Pieczyńska, Beata, Żaczek, Anna, Brożek, Izabela, Radecka, Barbara, Kowalczyk, Anna, Wełnicka-Jaśkiewicz, Marzena, Jassem, Jacek
Published in Breast (Edinburgh) (01.08.2013)
Published in Breast (Edinburgh) (01.08.2013)
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Cancer predisposing BARD1 mutations in breast-ovarian cancer families
Ratajska, Magdalena, Matusiak, Magdalena, Brożek, Izabela, Stukan, Maciej, Śniadecki, Marcin, Dębniak, Jarosław, Wydra, Dariusz, Limon, Janusz
Published in Hereditary cancer in clinical practice (10.12.2012)
Published in Hereditary cancer in clinical practice (10.12.2012)
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Prevalence and clinical correlations of BRCA1/ BRCA2 unclassified variant carriers among unselected primary ovarian cancer cases – preliminary report
Majdak, Ewa J., De Bock, Geertruida H., Brozek, Izabela, Perkowska, Magdalena, Ochman, Karolina, Debniak, Jaroslaw, Milczek, Tomasz, Cornelisse, Cees J., Jassem, J., Emerich, Janusz, Limon, Janusz, Devilee, Peter
Published in European journal of cancer (1990) (2005)
Published in European journal of cancer (1990) (2005)
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Hereditary ovarian cancer in Poland
Menkiszak, Janusz, Gronwald, Jacek, Górski, Bohdan, Jakubowska, Anna, Huzarski, Tomasz, Byrski, Tomasz, Foszczyńska‐Kłoda, Małgorzata, Haus, Olga, Janiszewska, Hanna, Perkowska, Magdalena, Brożek, Izabela, Grzybowska, Ewa, Zientek, Helena, Góźdź, Stanisław, Kozak‐Klonowska, Beata, Urbański, Krzysztof, Miturski, Roman, Kowalczyk, Jerzy, Plużańska, Anna, Niepsuj, Stanisław, Koc, Jan, Szwiec, Marek, Drosik, Kazimierz, Mackiewicz, Andrzej, Lamperska, Katarzyna, Stróżyk, Elwira, Godlewski, Dariusz, Stawicka, Małgorzata, Waśko, Bernard, Bebenek, Marek, Rozmiarek, Andrzej, Rzepka‐Górska, Izabella, Narod, Steven A., Lubiński, Jan
Published in International journal of cancer (10.10.2003)
Published in International journal of cancer (10.10.2003)
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HER2 Amplification Has no Prognostic Value in Sporadic and Hereditary Ovarian Tumours
Brozek, Izabela, Kardaś, Iwona, Ochman, Karolina, Debniak, Jarosław, Stukan, Maciej, Ratajska, Magdalena, Morzuch, Lucyna, Emerich, Janusz, Limon, Janusz
Published in Hereditary cancer in clinical practice (15.11.2006)
Published in Hereditary cancer in clinical practice (15.11.2006)
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Spectrum and Prevalence of Pathogenic Variants in Ovarian Cancer Susceptibility Genes in a Group of 333 Patients
Koczkowska, Magdalena, Krawczynska, Natalia, Stukan, Maciej, Kuzniacka, Alina, Brozek, Izabela, Sniadecki, Marcin, Debniak, Jaroslaw, Wydra, Dariusz, Biernat, Wojciech, Kozlowski, Piotr, Limon, Janusz, Wasag, Bartosz, Ratajska, Magdalena
Published in Cancers (14.11.2018)
Published in Cancers (14.11.2018)
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Analysis of large mutations in BARD1 in patients with breast and/or ovarian cancer: the Polish population as an example
Klonowska, Katarzyna, Ratajska, Magdalena, Czubak, Karol, Kuzniacka, Alina, Brozek, Izabela, Koczkowska, Magdalena, Sniadecki, Marcin, Debniak, Jaroslaw, Wydra, Dariusz, Balut, Magdalena, Stukan, Maciej, Zmienko, Agnieszka, Nowakowska, Beata, Irminger-Finger, Irmgard, Limon, Janusz, Kozlowski, Piotr
Published in Scientific reports (21.05.2015)
Published in Scientific reports (21.05.2015)
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Cancer predisposing BARD1 mutations affect exon skipping and are associated with overexpression of specific BARD1 isoforms
RATAJSKA, MAGDALENA, MATUSIAK, MAGDALENA, KUZNIACKA, ALINA, WASAG, BARTOSZ, BROZEK, IZABELA, BIERNAT, WOJCIECH, KOCZKOWSKA, MAGDALENA, DEBNIAK, JAROSLAW, SNIADECKI, MARCIN, KOZLOWSKI, PIOTR, KLONOWSKA, KATARZYNA, PILYUGIN, MAXIM, WYDRA, DARIUSZ, LAURENT, GEOFF, LIMON, JANUSZ, IRMINGER-FINGER, IRMGARD
Published in Oncology reports (01.11.2015)
Published in Oncology reports (01.11.2015)
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Mutational analysis of BRCA1/2 in a group of 134 consecutive ovarian cancer patients. Novel and recurrent BRCA1/2 alterations detected by next generation sequencing
Ratajska, Magdalena, Krygier, Magdalena, Stukan, Maciej, Kuźniacka, Alina, Koczkowska, Magdalena, Dudziak, Mirosław, Śniadecki, Marcin, Dębniak, Jarosław, Wydra, Dariusz, Brozek, Izabela, Biernat, Wojciech, Borg, Ake, Limon, Janusz, Wasąg, Bartosz
Published in Journal of applied genetics (01.05.2015)
Published in Journal of applied genetics (01.05.2015)
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Limited significance of family history for presence of BRCA1 gene mutation in Polish breast and ovarian cancer cases
Brozek, Izabela, Ratajska, Magdalena, Piatkowska, Magdalena, Kluska, Anna, Balabas, Aneta, Dabrowska, Michalina, Nowakowska, Dorota, Niwinska, Anna, Rachtan, Jadwiga, Steffen, Jan, Limon, Janusz
Published in Familial cancer (01.09.2012)
Published in Familial cancer (01.09.2012)
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Prevalence of the most frequent BRCA1 mutations in Polish population
Brozek, Izabela, Cybulska, Celina, Ratajska, Magdalena, Piatkowska, Magdalena, Kluska, Anna, Balabas, Aneta, Dabrowska, Michalina, Nowakowska, Dorota, Niwinska, Anna, Pamula-Pilat, Jolanta, Tecza, Karolina, Pekala, Wioletta, Rembowska, Jolanta, Nowicka, Karina, Mosor, Maria, Januszkiewicz-Lewandowska, Danuta, Rachtan, Jadwiga, Grzybowska, Ewa, Nowak, Jerzy, Steffen, Jan, Limon, Janusz
Published in Journal of applied genetics (01.08.2011)
Published in Journal of applied genetics (01.08.2011)
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BRCA1 and BRCA2 point mutations and large rearrangements in breast and ovarian cancer families in Northern Poland
RATAJSKA, Magdalena, BROZEK, Izabela, LIMON, Janusz, SENKUS-KONEFKA, Elzbieta, JASSEM, Jacek, STEPNOWSKA, Magdalena, PALOMBA, Grazia, PISANO, Marina, CASULA, Milena, PALMIERI, Giuseppe, BORG, Ake
Published in Oncology reports (2008)
Published in Oncology reports (2008)
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Microdeletion and IGF2 loss of imprinting in a cascade causing Beckwith-Wiedemann syndrome with Wilms' tumor
Prawitt, Dirk, Enklaar, Thorsten, Gärtner-Rupprecht, Barbara, Spangenberg, Christian, Lausch, Ekkehart, Reutzel, Dirk, Fees, Stephan, Korzon, Maria, Brozek, Izabela, Limon, Janusz, Housman, David E, Pelletier, Jerry, Zabel, Bernhard
Published in Nature genetics (01.08.2005)
Published in Nature genetics (01.08.2005)
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