New evidence for association of recessive IARS gene mutations with hepatopathy, hypotonia, intellectual disability and growth retardation
Smigiel, R., Biela, M., Biernacka, A., Stembalska, A., Sasiadek, M., Kosinska, J., Rydzanicz, M., Ploski, R.
Published in Clinical genetics (01.12.2017)
Published in Clinical genetics (01.12.2017)
Get full text
Journal Article
Lynch syndrome mutations shared by the Baltic States and Poland
Dymerska, D., Kurzawski, G., Suchy, J., Roomere, H., Toome, K., Metspalu, A., Janavičius, R., Elsakov, P., Irmejs, A., Berzina, D., Miklaševičs, E., Gardovskis, J., Rebane, E., Kelve, M., Kładny, J., Huzarski, T., Gronwald, J., Dębniak, T., Byrski, T., Stembalska, A., Surdyka, D., Siołek, M., Szwiec, M., Banaszkiewicz, Z., Wiśniowski, R., Kilar, E., Scott, R.J., Lubiński, J.
Published in Clinical genetics (01.08.2014)
Published in Clinical genetics (01.08.2014)
Get full text
Journal Article
Germline MSH2 and MLH1 mutational spectrum including large rearrangements in HNPCC families from Poland (update study)
Kurzawski, G, Suchy, J, Lener, M, Kłujszo-Grabowska, E, Kładny, J, Safranow, K, Jakubowska, K, Jakubowska, A, Huzarski, T, Byrski, T, Dębniak, T, Cybulski, C, Gronwald, J, Oszurek, O, Oszutowska, D, Kowalska, E, Góźdź, S, Niepsuj, S, Słomski, R, Pławski, A, Łącka-Wojciechowska, A, Rozmiarek, A, Fiszer-Maliszewska, Ł, Bębenek, M, Sorokin, D, Sąsiadek, MM, Stembalska, A, Grzebieniak, Z, Kilar, E, Stawicka, M, Godlewski, D, Richter, P, Brożek, I, Wysocka, B, Limon, J, Jawień, A, Banaszkiewicz, Z, Janiszewska, H, Kowalczyk, J, Czudowska, D, Scott, RJ, Lubiński, J
Published in Clinical genetics (01.01.2006)
Published in Clinical genetics (01.01.2006)
Get full text
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)
Get full text
Journal Article
Phenotype and genotype in 52 patients with Rubinstein-Taybi syndrome caused by EP300 mutations
Fergelot, Patricia, Van Belzen, Martine, Van Gils, Julien, Afenjar, Alexandra, Armour, Christine M., Arveiler, Benoit, Beets, Lex, Burglen, Lydie, Busa, Tiffany, Collet, Marie, Deforges, Julie, de Vries, Bert B. A., Dominguez Garrido, Elena, Dorison, Nathalie, Dupont, Juliette, Francannet, Christine, Garciá-Minaúr, Sixto, Gabau Vila, Elisabeth, Gebre-Medhin, Samuel, Gener Querol, Blanca, Geneviève, David, Gérard, Marion, Gervasini, Cristina Giovanna, Goldenberg, Alice, Josifova, Dragana, Lachlan, Katherine, Maas, Saskia, Maranda, Bruno, Moilanen, Jukka S., Nordgren, Ann, Parent, Philippe, Rankin, Julia, Reardon, Willie, Rio, Marlène, Roume, Joëlle, Shaw, Adam, Smigiel, Robert, Sojo, Amaia, Solomon, Benjamin, Stembalska, Agnieszka, Stumpel, Constance, Suarez, Francisco, Terhal, Paulien, Thomas, Simon, Touraine, Renaud, Verloes, Alain, Vincent-Delorme, Catherine, Wincent, Josephine, Peters, Dorien J. M., Bartsch, Oliver, Larizza, Lidia, Lacombe, Didier, Hennekam, Raoul C.
Published in American journal of medical genetics. Part A (01.12.2016)
Published in American journal of medical genetics. Part A (01.12.2016)
Get full text
Journal Article
An inherited NBN mutation is associated with poor prognosis prostate cancer
CYBULSKI, C, WOKOLORCZYK, D, GOLAB, A, GLINIEWICZ, B, SIKORSKI, A, SWITALA, J, BORKOWSKI, T, BORKOWSKI, A, ANTCZAK, A, WOJNAR, L, PRZYBYLA, J, SOSNOWSKI, M, KLUZNIAK, W, MALKIEWICZ, B, ZDROJOWY, R, SIKORSKA-RADEK, P, MATYCH, J, WILKOSZ, J, ROZANSKI, W, KIS, J, BAR, K, BRYNIARSKI, P, PARADYSZ, A, JAKUBOWSKA, A, JERSAK, K, NIEMIROWICZ, J, SLUPSKI, P, JARZEMSKI, P, SKRZYPCZYK, M, DOBRUCH, J, DOMAGALA, P, NAROD, S. A, LUBINSKI, J, GORSKI, B, GRONWALD, J, HUZARSKI, T, KASHYAP, A, BYRSKI, T, DEBNIAK, T
Published in British journal of cancer (05.02.2013)
Published in British journal of cancer (05.02.2013)
Get full text
Journal Article
Impairment of MLH1 and CDKN2A in oncogenesis of laryngeal cancer
SASIADEK, M. M, STEMBALSKA-KOZLOWSKA, A, SMIGIEL, R, RAMSEY, D, KAYADEMIR, T, BLIN, N
Published in British journal of cancer (19.04.2004)
Published in British journal of cancer (19.04.2004)
Get full text
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)
Get full text
Journal Article
Microsatellite and chromosome instability in squamous cell laryngeal carcinoma
Sasiadek, M, Stembalska-Kozlowska, A, Smigiel, R, Krecicki, T, Blin, N, Mirghomizadeh, F
Published in International journal of oncology (01.08.2001)
Published in International journal of oncology (01.08.2001)
Get more information
Journal Article
Influence of polymorphisms in xenobiotic-metabolizing genes and DNA-repair genes on diepoxybutane-induced SCE frequency
Laczmanska, Izabela, Gil, Justyna, Karpinski, Pawel, Stembalska, Agnieszka, Kozlowska, Joanna, Busza, Halina, Trusewicz, Alicja, Pesz, Karolina, Ramsey, David, Schlade-Bartusiak, Kamila, Blin, Nikolaus, Sasiadek, Maria Malgorzata
Published in Environmental and molecular mutagenesis (01.12.2006)
Published in Environmental and molecular mutagenesis (01.12.2006)
Get full text
Journal Article
Three distinct regions of deletion on 13q in squamous cell carcinoma of the larynx
STEMBALSKA, Agnieszka, BLIN, Nikolaus, RAMSEY, David, SASIADEK, Maria M
Published in Oncology reports (01.08.2006)
Published in Oncology reports (01.08.2006)
Get full text
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)
Get full text
Published in Anticancer research (01.11.2006)
Journal Article
Bleomycin-induced chromosome aberrations in head and neck cancer patients analyzed by classical cytogenetics and FISH
Zych, Monika, Schlade-Bartusiak, Kamila, Chorostkowska, Anna, Stembalska, Agnieszka, Krêcicki, Tomasz, Sasiadek, Maria
Published in Cancer letters (01.05.2000)
Published in Cancer letters (01.05.2000)
Get full text
Journal Article
Analysis of adaptive response to bleomycin and mitomycin C
Schlade-Bartusiak, Kamila, Stembalska-Kozlowska, Agnieszka, Bernady, Monika, Kudyba, Marta, Sasiadek, Maria
Published in Mutation research (15.01.2002)
Published in Mutation research (15.01.2002)
Get full text
Journal Article
Correlation among loss of heterozygosity, promoter methylation and protein expression of MLH1 in larynx cancer
Smigiel, Robert, Stembalska-Kozlowska, Agnieszka, Mirghomizadeh, Farhad, Krecicki, Tomasz, Zatonski, Tomasz, Ramsey, David, Horobiowska, Monika, Jagielski, Jozef, Blin, Nikolaus, Sasiadek, Maria
Published in Oncology reports (01.03.2004)
Published in Oncology reports (01.03.2004)
Get more information
Journal Article