Prostaglandin-endoperoxide synthase genes COX1 and COX2 - novel modifiers of disease severity in cystic fibrosis patients
Czerska, K, Sobczynska-Tomaszewska, A, Sands, D, Nowakowska, A, Bak, D, Wertheim, K, Poznanski, J, Zielenski, J, Norek, A, Bal, J
Published in Journal of applied genetics (2010)
Published in Journal of applied genetics (2010)
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Analysis of exocrine pancreatic function in cystic fibrosis: one mild CFTR mutation does not exclude pancreatic insufficiency
Walkowiak, J., Herzig, K.-H., Witt, M., Pogorzelski, A., Piotrowski, R., Barra, E., Sobczynska-Tomaszewska, A., Trawinska-Bartnicka, M., Strzykala, K., Cichy, W., Sands, D., Rutkiewicz, E., Krawczynski, M.
Published in European journal of clinical investigation (01.09.2001)
Published in European journal of clinical investigation (01.09.2001)
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19 Newborn screening for cystic fibrosis – Polish experience with CFTR sequencing strategy
Sobczynska-Tomaszewska, A, Czerska, K, Ołtarzewski, M, Wertheim-Tysarowska, K, Bal, J
Published in Journal of cystic fibrosis (01.06.2014)
Published in Journal of cystic fibrosis (01.06.2014)
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Novel sporadic and recurrent mutations in KRT5 and KRT14 genes in Polish epidermolysis bullosa simplex patients: further insights into epidemiology and genotype–phenotype correlation
Wertheim-Tysarowska, K., Ołdak, M., Giza, A., Kutkowska-Kaźmierczak, A., Sota, J., Przybylska, D., Woźniak, K., Śniegórska, D., Niepokój, K., Sobczyńska-Tomaszewska, A., Rygiel, A. M., Płoski, R., Bal, J., Kowalewski, C.
Published in Journal of applied genetics (01.05.2016)
Published in Journal of applied genetics (01.05.2016)
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Clinical manifestation of chronic pancreatitis associated with SPINK1 mutations in children
Oracz, G, Kierkus, J, Sobczynska-Tomaszewska, A, Bal, J, Ryzko, J
Published in Pancreatology : official journal of the International Association of Pancreatology (IAP) ... [et al.] (01.11.2012)
Published in Pancreatology : official journal of the International Association of Pancreatology (IAP) ... [et al.] (01.11.2012)
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WS21.5 Newborn screening for cystic fibrosis – Polish four years’ experience with CFTR sequencing strategy
Wertheim-Tysarowska, K, Sobczynska-Tomaszewska, A, Oltarzewski, M, Czerska, K, Sands, D, Walkowiak, J, Bal, J, Mazurczak, T
Published in Journal of cystic fibrosis (01.06.2012)
Published in Journal of cystic fibrosis (01.06.2012)
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2 The syndrome of exocrine pancreatic insufficiency – cystic fibrosis or other disease?
Sobczynska-Tomaszewska, A, Czerska, K, Szpecht-Potocka, A, Popielarz, D, Wertheim-Tysarowska, K, Niepokój, K, Oralewska, B, Bal, J
Published in Journal of cystic fibrosis (01.06.2012)
Published in Journal of cystic fibrosis (01.06.2012)
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A novel de novo CFTR mutation in a Polish CF patient
Norek, A.K, Stremska, M, Sobczynska-Tomaszewska, A, Milewski, M, Dmenska, H, Sands, D, Jurek, M, Czerska, K, Wertheim-Tysarowska, K, Bal, J
Published in Journal of cystic fibrosis (2010)
Published in Journal of cystic fibrosis (2010)
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Journal Article
Does the R117H mutation cause cystic fibrosis or not?
Norek, A, Sobczynska-Tomaszewska, A, Wolski, J.K, Sands, D, Trawinska-Bartnicka, M, Sapiejko, E, Czerska, K, Wertheim, K, Bai, J
Published in Journal of cystic fibrosis (01.06.2008)
Published in Journal of cystic fibrosis (01.06.2008)
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Journal Article
First year of Polish National CF Newborn Screening
Sands, D.A, Zybert, K, Oltarzewski, M, Sobczynska-Tomaszewska, A, Czerska, K, Norek, A, Piotrowski, R, Milanowski, A
Published in Journal of cystic fibrosis (01.06.2008)
Published in Journal of cystic fibrosis (01.06.2008)
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Journal Article
CFTR gene mutations in IRT/DNA cystic fibrosis newborn screening in Poland
Sobczynska-Tomaszewska, A, Oltarzewski, M, Wertheim, K, Norek, A, Czerska, K, Sands, D, Zybert, K, Bal, J
Published in Journal of cystic fibrosis (01.06.2008)
Published in Journal of cystic fibrosis (01.06.2008)
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Journal Article
COX2 as a protective modifier of CF pulmonary disease severity
Czerska, K, Sobczynska-Tomaszewska, A, Sands, D, Nowakowska, A, Wertheim, K, Bak, D, Zielenski, J, Bai, J
Published in Journal of cystic fibrosis (01.06.2008)
Published in Journal of cystic fibrosis (01.06.2008)
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Journal Article
Variants in CPA1 are strongly associated with early onset chronic pancreatitis
Witt, Heiko, Beer, Sebastian, Rosendahl, Jonas, Chen, Jian-Min, Chandak, Giriraj Ratan, Masamune, Atsushi, Bence, Melinda, Szmola, Richárd, Oracz, Grzegorz, Macek, Milan, Bhatia, Eesh, Steigenberger, Sandra, Lasher, Denise, Bühler, Florence, Delaporte, Catherine, Tebbing, Johanna, Ludwig, Maren, Pilsak, Claudia, Saum, Karolin, Bugert, Peter, Masson, Emmanuelle, Paliwal, Sumit, Bhaskar, Seema, Sobczynska-Tomaszewska, Agnieszka, Bak, Daniel, Balascak, Ivan, Choudhuri, Gourdas, Reddy, D Nageshwar, Rao, G Venkat, Thomas, Varghese, Kume, Kiyoshi, Nakano, Eriko, Kakuta, Yoichi, Shimosegawa, Tooru, Durko, Lukasz, Szabó, András, Schnúr, Andrea, Hegyi, Péter, Rakonczay, Zoltán, Pfützer, Roland, Schneider, Alexander, Groneberg, David Alexander, Braun, Markus, Schmidt, Hartmut, Witt, Ulrike, Friess, Helmut, Algül, Hana, Landt, Olfert, Schuelke, Markus, Krüger, Renate, Wiedenmann, Bertram, Schmidt, Frank, Zimmer, Klaus-Peter, Kovacs, Peter, Stumvoll, Michael, Blüher, Matthias, Müller, Thomas, Janecke, Andreas, Teich, Niels, Grützmann, Robert, Schulz, Hans-Ulrich, Mössner, Joachim, Keim, Volker, Löhr, Matthias, Férec, Claude, Sahin-Tóth, Miklós
Published in Nature genetics (01.10.2013)
Published in Nature genetics (01.10.2013)
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Variation in a Repeat Sequence Determines Whether a Common Variant of the Cystic Fibrosis Transmembrane Conductance Regulator Gene Is Pathogenic or Benign
Groman, Joshua D., Hefferon, Timothy W., Casals, Teresa, Bassas, Lluís, Estivill, Xavier, Des Georges, Marie, Guittard, Caroline, Koudova, Monika, Fallin, M. Daniele, Nemeth, Krisztina, Fekete, Gyorgy, Kadasi, Ludovit, Friedman, Ken, Schwarz, Martin, Bombieri, Cristina, Pignatti, Pier Franco, Kanavakis, Emmanuel, Tzetis, Maria, Schwartz, Marianne, Novelli, Giuseppe, D’Apice, Maria Rosaria, Sobczynska-Tomaszewska, Agnieszka, Bal, Jerzy, Stuhrmann, Manfred, Macek, Milan, Claustres, Mireille, Cutting, Garry R.
Published in American journal of human genetics (01.01.2004)
Published in American journal of human genetics (01.01.2004)
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Journal Article
Prostaglandin-endoperoxide synthase genesCOX1 andCOX2 — novel modifiers of disease severity in cystic fibrosis patients
Czerska, K., Sobczyńska-Tomaszewska, A., Sands, D., Nowakowska, A., Bąk, D., Wertheim, K., Poznański, J., Zielenski, J., Norek, A., Bal, J.
Published in Journal of applied genetics (2010)
Published in Journal of applied genetics (2010)
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