Search Results - "Zmysłowska, A"

Evaluation of the Oral Bacterial Genome and Metabolites in Patients with Wolfram Syndrome by Zmysłowska-Polakowska, E, Płoszaj, T, Skoczylas, S, Mojsak, P, Ciborowski, M, Kretowski, A, Lukomska-Szymanska, M, Szadkowska, A, Mlynarski, W, Zmysłowska, A

“…In Wolfram syndrome (WFS), due to the loss of wolframin function, there is increased ER stress and, as a result, progressive neurodegenerative disorders,…”
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Next- generation sequencing is an effective method for diagnosing patients with different forms of monogenic diabetes by Zmysłowska, A., Jakiel, P., Gadzalska, K., Majos, A., Płoszaj, T., Ben-Skowronek, I., Deja, G., Glowinska-Olszewska, B., Jarosz-Chobot, P., Klonowska, B., Kowalska, I., Mlynarski, W., Mysliwiec, M., Nazim, J., Noczynska, A., Robak-Kontna, K., Skala-Zamorowska, E., Skowronska, B., Szadkowska, A., Szypowska, A., Walczak, M., Borowiec, M.

“…Monogenic diabetes (MD) represents 5–7% of antibody-negative diabetes cases and is a heterogeneous group of disorders. We used targeted next-generation…”
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Novel potentially pathogenic variants detected in genes causing intellectual disability and epilepsy in Polish families by Skoczylas, S., Jakiel, P., Płoszaj, T., Gadzalska, K., Borowiec, M., Pastorczak, A., Moczulska, H., Malarska, M., Eckersdorf-Mastalerz, A., Budzyńska, E., Zmysłowska, A.

“…Background Intellectual disability (ID) affects 1–3% of the world population. The number of genes whose dysfunctions cause intellectual disability is…”
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Identification of rare variants in candidate genes associated with monogenic diabetes in polish mody-x patients by Jakiel, Paulina, Gadzalska, K., Juścińska, E., Gorządek, M., Płoszaj, T., Skoczylas, S., Borowiec, M., Zmysłowska, A.

“…Purpose Monogenic diabetes (MD) is caused by a mutation in a single gene and accounts for approximately 2.5–6% of all diabetes cases. Maturity-onset diabetes…”
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Immunogenicity of different brands of human insulin and rapid-acting insulin analogs in insulin-naïve children with type 1 diabetes by Mianowska, B, Szadkowska, A, Pietrzak, I, Zmysłowska, A, Wegner, O, Tomczonek, J, Bodalski, J, Młynarski, W

“…Mianowska B, Szadkowska A, Pietrzak I, Zmysłowska A, Wegner O, Tomczonek J, Bodalski J, Młynarski W. Immunogenicity of different brands of human insulin and…”
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Prevalence of monogenic diabetes amongst Polish children after a nationwide genetic screening campaign by Fendler, W., Borowiec, M., Baranowska-Jazwiecka, A., Szadkowska, A., Skala-Zamorowska, E., Deja, G., Jarosz-Chobot, P., Techmanska, I., Bautembach-Minkowska, J., Mysliwiec, M., Zmyslowska, A., Pietrzak, I., Malecki, M. T., Mlynarski, W.

“…Aims/hypothesis The aim of this study was to study dynamic changes in the prevalence of different types of diabetes in paediatric populations in Poland, with a…”
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Can the MT-CO2 gene surprise us with something? – A review of variants considered as pathogenic by identifying conserved sites by Skoczylas, S., Płoszaj, T., Zmysłowska, A.

“…Cytochrome oxidase subunit II is encoded by the MT-CO2 gene and belongs to a large internal membrane complex called cytochrome c oxidase. To date, no…”
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Genetic evaluation of patients with Alström syndrome in the Polish population by Zmyslowska, A., Borowiec, M., Antosik, K., Ploski, R., Ciechanowska, M., Iwaniszewska, B., Jakubiuk-Tomaszuk, A., Janczyk, W., Krawczynski, M., Salmonowicz, B., Stelmach, M., Mlynarski, W.

“…Alström syndrome (AS) is a rare syndromic form of obesity and type 2 diabetes (T2D) in children coexisting with retinal dystrophy and disorders of many organs…”
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Prevalence of monogenic diabetes amongst Polish children after a nationwide genetic screening campaign by FENDLER, W, BOROWIEC, M, ZMYSLOWSKA, A, PIETRZAK, I, MALECKI, M. T, MLYNARSKI, W, BARANOWSKA-JAZWIECKA, A, SZADKOWSKA, A, SKALA-ZAMOROWSKA, E, DEJA, G, JAROSZ-CHOBOT, P, TECHMANSKA, I, BAUTEMBACH-MINKOWSKA, J, MYSLIWIEC, M

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Delayed recognition of Wolfram syndrome frequently misdiagnosed as type 1 diabetes with early chronic complications by Zmyslowska, A, Borowiec, M, Fichna, P, Iwaniszewska, B, Majkowska, L, Pietrzak, I, Szalecki, M, Szypowska, A, Mlynarski, W

“…Improvements in diagnostic methods and greater genetic awareness have brought remarkable progress in the recognition of monogenic forms of diabetes, including…”
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Wolfram syndrome in the Polish population: novel mutations and genotype-phenotype correlation by Zmyslowska, A., Borowiec, M., Antosik, K., Szalecki, M., Stefanski, A., Iwaniszewska, B., Jedrzejczyk, M., Pietrzak, I., Mlynarski, W.

“…Summary Objective  Wolfram syndrome is a rare form of diabetes mellitus associated with optic atrophy and disorders of different organs (e.g. diabetes…”
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Doubling the referral rate of monogenic diabetes through a nationwide information campaign - update on glucokinase gene mutations in a Polish cohort by Borowiec, M, Fendler, W, Antosik, K, Baranowska, A, Gnys, P, Zmyslowska, A, Malecki, M, Mlynarski, W

“…Borowiec M, Fendler W, Antosik K, Baranowska A, Gnys P, Zmyslowska A, Malecki M, Mlynarski W. Doubling the referral rate of monogenic diabetes through a…”
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Glycemic variability in patients with Wolfram syndrome is lower than in type 1 diabetes by Zmyslowska, A., Fendler, W., Szadkowska, A., Borowiec, M., Mysliwiec, M., Baranowska-Jazwiecka, A., Buraczewska, M., Fulmanska-Anders, M., Mianowska, B., Pietrzak, I., Rzeznik, D., Mlynarski, W.

“…Aims Wolfram syndrome (WFS) is diagnosed as coexistence of diabetes mellitus and optic atrophy, where pancreatic beta cell destruction is associated with…”
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Novel glucokinase mutations in patients with monogenic diabetes - clinical outline of GCK-MD and potential for founder effect in Slavic population by Borowiec, M, Antosik, K, Fendler, W, Deja, G, Jarosz-Chobot, P, Mysliwiec, M, Zmyslowska, A, Malecki, M, Szadkowska, A, Mlynarski, W

“…Borowiec M, Antosik K, Fendler W, Deja G, Jarosz‐Chobot P, Mysliwiec M, Zmyslowska A, Malecki M, Szadkowska A, Mlynarski W. Novel glucokinase mutations in…”
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Wolfram syndrome in the Polish population: novel mutations and genotype-phenotype correlation: Novel mutations in the WFS1 gene by Zmyslowska, A., Borowiec, M., Antosik, K., Szalecki, M., Stefanski, A., Iwaniszewska, B., Jedrzejczyk, M., Pietrzak, I., Mlynarski, W.

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P34 Residual insulin secretion and influence of anti-islet antibodies in children with newly diagnosed type 1 diabetes mellitus by Zmyslowska, A., Teodorczyk, A., Andrzejewski, W., Wyka, K., Czerniawska, E., Krokowski, M., Bodalski, J.

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Development of sludge treatment and disposal strategies for large conurbations: case study – Warsaw by Hall, Jeremy E., Zmyslowska, Anna

“…The development of appropriate strategies for the treatment and disposal of sewage sludge is a major problem for all conurbations throughout the world. Sludge…”
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Peripheral T-cell lymphoma and leukemia (description of 4 cases and review of the literature) by Rupniewska, Z M, Wach, M, Antosz, H, Zmysłowska, A, Roliński, J

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Development of sludge treatment and disposal strategies for large conurbations: Case study — Warsaw by Hall, Jeremy E., Zmyslowska, Anna

“…The development of appropriate strategies for the treatment and disposal of sewage sludge is a major problem for all conurbations throughout the world. Sludge…”
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