Next-generation sequencing for diagnosis of thoracic aortic aneurysms and dissections: diagnostic yield, novel mutations and genotype phenotype correlations
Poninska, J K, Bilinska, Z T, Franaszczyk, M, Michalak, E, Rydzanicz, M, Szpakowski, E, Pollak, A, Milanowska, B, Truszkowska, G, Chmielewski, P, Sioma, A, Janaszek-Sitkowska, H, Klisiewicz, A, Michalowska, I, Makowiecka-Ciesla, M, Kolsut, P, Stawinski, P, Foss-Nieradko, B, Szperl, M, Grzybowski, J, Hoffman, P, Januszewicz, A, Kusmierczyk, M, Ploski, R
Published in Journal of translational medicine (04.05.2016)
Published in Journal of translational medicine (04.05.2016)
Get full text
Journal Article
Exome sequencing in a family segregating for celiac disease
Szperl, AM, Ricaño-Ponce, I, Li, JK, Deelen, P, Kanterakis, A, Plagnol, V, van Dijk, F, Westra, HJ, Trynka, G, Mulder, CJ, Swertz, M, Wijmenga, C, Zheng, H Ch
Published in Clinical genetics (01.08.2011)
Published in Clinical genetics (01.08.2011)
Get full text
Journal Article
Functional Characterization of Mutations in the Myosin Vb Gene Associated With Microvillus Inclusion Disease
Szperl, Agata M, Golachowska, Magdalena R, Bruinenberg, Marcel, Prekeris, Rytis, Thunnissen, Andy‐Mark WH, Karrenbeld, Arend, Dijkstra, Gerard, Hoekstra, Dick, Mercer, David, Ksiazyk, Janusz, Wijmenga, Cisca, Wapenaar, Martin C, Rings, Edmond HHM, IJzendoorn, Sven CD
Published in Journal of pediatric gastroenterology and nutrition (01.03.2011)
Published in Journal of pediatric gastroenterology and nutrition (01.03.2011)
Get full text
Journal Article
Correction by CSF-1 of defects in the osteopetrotic op/op mouse suggests local, developmental, and humoral requirements for this growth factor
Wiktor-Jedrzejczak, W, Urbanowska, E, Aukerman, S L, Pollard, J W, Stanley, E R, Ralph, P, Ansari, A A, Sell, K W, Szperl, M
Published in Experimental hematology (01.11.1991)
Get more information
Published in Experimental hematology (01.11.1991)
Journal Article
Administration of colony stimulating factor-1 corrects some macrophage, dental, and skeletal defects in an osteopetrotic mutation (toothless, tl) in the rat
Marks, S.C., Wojtowicz, A., Szperl, M., Urbanowska, E., Mackay, C.A., Wiktor-Jedrzejczak, W., Stanley, E.R., Aukerman, S.L.
Published in Bone (New York, N.Y.) (1992)
Published in Bone (New York, N.Y.) (1992)
Get full text
Journal Article
Conference Proceeding
Colony-stimulating factor 1-dependent resident macrophages play a regulatory role in fighting Escherichia coli fecal peritonitis
WIKTOR-JEDRZEJCZAK, W, DZWIGALA, B, SZPERL, M, MARUSZYNSKI, M, URBANOWSKA, E, SZWECH, P, MCCALLUM, R. E
Published in Infection and Immunity (01.05.1996)
Published in Infection and Immunity (01.05.1996)
Get full text
Journal Article
Inflammatory bowel disease and celiac disease: overlaps in the pathology and genetics, and their potential drug targets
Festen, Eleonora A M, Szperl, Agata M, Weersma, Rinse K, Wijmenga, Cisca, Wapenaar, Martin C
Published in Endocrine, metabolic & immune disorders drug targets (01.06.2009)
Published in Endocrine, metabolic & immune disorders drug targets (01.06.2009)
Get more information
Journal Article
Myocardial remodeling differs between LV and RV myocardium from patients with idiopathic-dilated myocarditis, end-stage heart failure
Szperl, M., Roszczynko, M., Paczkowska, A., Leszek, P., Kolsut, P.
Published in Journal of molecular and cellular cardiology (01.06.2006)
Published in Journal of molecular and cellular cardiology (01.06.2006)
Get full text
Journal Article
659 Angiotensin-converting enzyme 2 (ACE2) gene polymorphisms and long-term survival in advanced heart failure
Leszek, P., Ciechanowicz, A., Szperl, M., Piotrowski, W., Browarek, A., Zembala, M., Przybylowski, P., Korewicki, J.
Published in European journal of heart failure. Supplements (01.06.2007)
Published in European journal of heart failure. Supplements (01.06.2007)
Get full text
Journal Article
HEART FAILURE AND HUMAN ANGIOGENESIS
Wozniewicz B, Czarnowska E, Cukrowska B, Szperl M, Leszek P, Religa G, Kolsut P, Grajkowska W, Szymanska T, Korewicki J, Religa Z
Published in Cardiovascular pathology (01.05.2004)
Published in Cardiovascular pathology (01.05.2004)
Get full text
Journal Article
Granulocyte-macrophage colony-stimulating factor corrects macrophage deficiencies, but not osteopetrosis, in the colony-stimulating factor-1-deficient op/op mouse
Wiktor-Jedrzejczak, W, Urbanowska, E, Szperl, M
Published in Endocrinology (Philadelphia) (01.04.1994)
Published in Endocrinology (Philadelphia) (01.04.1994)
Get more information
Journal Article
Exome sequencing in a family segregating for celiac disease: EXOME SEQUENCING
SZPERL, A. M, RICANO-PONCE, I, SWERTZ, M, WIJMENGA, C, ZHENG, H. Ch, LI, J. K, DEELEN, P, KANTERAKIS, A, PLAGNOL, V, VAN DIJK, F, WESTRA, H. J, TRYNKA, G, MULDER, C. J
Published in Clinical genetics (2011)
Get full text
Published in Clinical genetics (2011)
Journal Article
Increased resistance of CSF-1-deficient, macrophage-deficient, TNF alpha-deficient, and IL-1 alpha-deficient op/op mice to endotoxin
Szperl, M, Ansari, A A, Urbanowska, E, Szwech, P, Kalinski, P, Wiktor-Jedrzejczak, W
Published in Annals of the New York Academy of Sciences (21.07.1995)
Published in Annals of the New York Academy of Sciences (21.07.1995)
Get more information
Journal Article
Do Angiotensin-converting enzyme (types 1 and 2) gene polymorphisms modify long-term survival in advanced heart failure?
LESZEK, P, CIECHANOWICZ, A, SZPERL, M, PIOTROWSKI, W, BROWAREK, A, ZEMBALA, M, PRZYBYLOWSKI, P, BINCZAKKULETA, A, RYWIK, T, KOREWICKI, J
Published in European journal of heart failure. Supplements (01.06.2008)
Published in European journal of heart failure. Supplements (01.06.2008)
Get full text
Journal Article
Beta-adrenoceptor polymorphisms in heart failure: Does altered receptor function modify long-term survival in advanced heart failure?
LESZEK, P, SZPERL, M, ROSZCZYNKO, M, PIOTROWSKI, W, BROWAREK, A, ZEMBALA, M, PRZYBYLOWSKI, P, RYWIK, T, KOPACZ, M, KOREWICKI, J
Published in European journal of heart failure. Supplements (01.06.2008)
Published in European journal of heart failure. Supplements (01.06.2008)
Get full text
Journal Article
528 Failing human hearts - the correlation among iron homeostasis in the heart and serum markers
Leszek, P., Sochanowicz, B., Szperl, M., Piotrowski, W., Kolsut, P., Rywik, T., Kopacz, M., Rozanski, J., Korewicki, J., Kruszewski, M.
Published in European journal of heart failure. Supplements (01.06.2008)
Published in European journal of heart failure. Supplements (01.06.2008)
Get full text
Journal Article
Failing human hearts - the correlation among iron homeostasis in the heart and serum markers
LESZEK, P, SOCHANOWICZ, B, SZPERL, M, PIOTROWSKI, W, KOLSUT, P, RYWIK, T, KOPACZ, M, ROZANSKI, J, KOREWICKI, J, KRUSZEWSKI, M
Published in European journal of heart failure. Supplements (01.06.2008)
Published in European journal of heart failure. Supplements (01.06.2008)
Get full text
Journal Article