Search Results - "Chmara, Magdalena"

A Generalized Version of the Lions-Type Lemma by Chmara, Magdalena

“…In this short paper, I recall the history of dealing with the lack of compactness of a sequence in the case of an unbounded domain and prove the vanishing…”
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Germline loss-of-function mutations in SPRED1 cause a neurofibromatosis 1-like phenotype by Somers, Riet, De Schepper, Sofie, Denayer, Ellen, Cools, Jan, Legius, Eric, Thomas, Gilles, Brems, Hilde, Sahbatou, Mourad, Taniguchi, Koji, Kato, Reiko, Messiaen, Ludwine, Fryns, Jean-Pierre, Yoshimura, Akihiko, Marynen, Peter, Chmara, Magdalena

“…We report germline loss-of-function mutations in SPRED1 in a newly identified autosomal dominant human disorder. SPRED1 is a member of the SPROUTY/SPRED family…”
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Novel Tools for Comprehensive Functional Analysis of LDLR (Low-Density Lipoprotein Receptor) Variants by Jasiecki, Jacek, Targońska, Monika, Janaszak-Jasiecka, Anna, Chmara, Magdalena, Żuk, Monika, Kalinowski, Leszek, Waleron, Krzysztof, Wasąg, Bartosz

“…Familial hypercholesterolemia (FH) is an autosomal-dominant disorder caused mainly by substitutions in the low-density lipoprotein receptor ( ) gene, leading…”
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Synergy between the alteration in the N-terminal region of butyrylcholinesterase K variant and apolipoprotein E4 in late-onset Alzheimer’s disease by Jasiecki, Jacek, Limon-Sztencel, Anna, Żuk, Monika, Chmara, Magdalena, Cysewski, Dominik, Limon, Janusz, Wasąg, Bartosz

“…While the life expectancy of the population has increased, Alzheimer’s disease (AD) has emerged as one of the greatest health problems of old age. AD is…”
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Aortic valve calcium score in hypercholesterolemic patients with and without low-density lipoprotein receptor gene mutation by Gałąska, Rafal, Kulawiak-Gałąska, Dorota, Chmara, Magdalena, Chlebus, Krzysztof, Studniarek, Michał, Fijałkowski, Marcin, Wasąg, Bartosz, Rynkiewicz, Andrzej, Gruchała, Marcin

“…The aim of this study was a comparison of aortic valve calcium score (AVCS) between patients with hypercholesterolemia and genetic diagnosis of familial…”
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Efficacy of clinical diagnostic criteria for familial hypercholesterolemia genetic testing in Poland by Mickiewicz, Agnieszka, Chmara, Magdalena, Futema, Marta, Fijalkowski, Marcin, Chlebus, Krzysztof, Galaska, Rafał, Bandurski, Tomasz, Pajkowski, Marcin, Zuk, Monika, Wasag, Bartosz, Limon, Janusz, Rynkiewicz, Andrzej, Gruchala, Marcin

“…Abstract Background and Aims Familial hypercholesterolemia (FH), which leads to premature cardiovascular events, still remains underrecognized and undertreated…”
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Assessment of Subclinical Atherosclerosis Using Computed Tomography Calcium Scores in Patients with Familial and Nonfamilial Hypercholesterolemia by Galaska, Rafal, Kulawiak-Galaska, Dorota, Wegrzyn, Agnieszka, Wasag, Bartosz, Chmara, Magdalena, Borowiec, Justyna, Studniarek, Michał, Fijalkowski, Marcin, Rynkiewicz, Andrzej, Gruchala, Marcin

“…Aim: The aim of this study was to compare coronary calcium scores and aortic calcium scores between patients with severe hypercholesterolemia having a…”
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Higher Responsiveness to Rosuvastatin in Polygenic versus Monogenic Hypercholesterolemia: A Propensity Score Analysis by Mickiewicz, Agnieszka, Futema, Marta, Ćwiklinska, Agnieszka, Kuchta, Agnieszka, Jankowski, Maciej, Kaszubowski, Mariusz, Chmara, Magdalena, Wasąg, Bartosz, Fijałkowski, Marcin, Jaguszewski, Miłosz, Humphries, Steve E., Gruchała, Marcin

“…Background: The monogenic defect in familial hypercholesterolemia (FH) is detected in ∼40% of cases. The majority of mutation-negative patients have a…”
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Clinical, biochemical and genetic risk factors for 30-day and 5-year mortality in 518 adult patients subjected to cardiopulmonary bypass during cardiac surgery - the INFLACOR study by Kowalik, Maciej Michał, Lango, Romuald, Siondalski, Piotr, Chmara, Magdalena, Brzeziński, Maciej, Lewandowski, Krzysztof, Jagielak, Dariusz, Klapkowski, Andrzej, Rogowski, Jan

“…There is increasing evidence that genetic variability influence patients’ early morbidity after cardiac surgery performed using cardiopulmonary bypass (CPB)…”
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Monitoring the Effects of Hypolipidemic Treatment in Children with Familial Hypercholesterolemia in Poland by Hennig, Matylda, Brandt-Varma, Agnieszka, Wołoszyn-Durkiewicz, Anna, Bautembach-Minkowska, Joanna, Buraczewska, Marta, Świętoń, Dominik, Mickiewicz, Agnieszka, Rynkiewicz, Andrzej, Gruchała, Marcin, Limon, Janusz, Wasąg, Bartosz, Chmara, Magdalena, Walczak, Mieczysław, Myśliwiec, Małgorzata

“…Familial hypercholesterolemia (FH) is the most common monogenic autosomal dominant disorder. FH results in an increased cardiovascular mortality rate. However,…”
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Molecular characterization of two novel KIT mutations in patients with piebaldism by Wasag, Bartosz, Chmara, Magdalena, Legius, Eric

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Existence of Two Periodic Solutions to General Anisotropic Euler-Lagrange Equations by Chmara, Magdalena

“…This paper is concerned with the following Euler-Lagrange system d d t L v t , u t , u ˙ t = L x t , u t , u ˙ t for a . e . t ∈ − T , T , u − T = u T , L v −…”
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Assessment of Subclinical Atherosclerosis Using Computed Tomography Calcium Scores in Patients with Familial and Nonfamilial Hypercholesterolemia by Rafal Galaska, Dorota Kulawiak-Galaska, Agnieszka Wegrzyn, Bartosz Wasag, Magdalena Chmara, Justyna Borowiec, Michal Studniarek, Marcin Fijalkowski, Andrzej Rynkiewicz, Marcin Gruchala

“…Aim: The aim of this study was to compare coronary calcium scores and aortic calcium scores between patients with severe hypercholesterolemia having a…”
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Fumarase-deficient Uterine Leiomyomas: An Immunohistochemical, Molecular Genetic, and Clinicopathologic Study of 86 Cases by Miettinen, Markku, Felisiak-Golabek, Anna, Wasag, Bartosz, Chmara, Magdalena, Wang, Zengfeng, Butzow, Ralf, Lasota, Jerzy

“…Loss-of-function germline mutations in the fumarase (FH) gene of the Krebs cycle characterize hereditary leiomyomatosis and renal cell cancer syndrome…”
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Loss of Heterozygosity at Chromosomes 3p and 17p in Primary Non-small Cell Lung Cancer by CHMARA, Magdalena, WOZNIAK, Agnieszka, OCHMAN, Karolina, KOBIERSKA, Grazyna, DZIADZIUSZKO, Rafal, SOSINSKA-MIELCAREK, Katarzyna, JASSEM, Ewa, SKOKOWSKI, Jan, JASSEM, Jacek, LIMON, Janusz

“…Background: Loss of heterozygosity (LOH) of selected regions at chromosomes 3p and 17p in non-small cell lung cancer (NSCLC) and the association of these…”
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Generalized version of the Lions-type lemma by Chmara, Magdalena

“…In this short paper, I recall the history of dealing with the lack of compactness of a sequence in the case of an unbounded domain and prove the vanishing…”
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FUMARASE DEFICIENT UTERINE LEIOMYOMAS – AN IMMUNOHISTO-CHEMICAL, MOLECULAR GENETIC, AND CLINICOPATHOLOGIC STUDY OF 86 CASES by Miettinen, Markku, Felisiak-Golabek, Anna, Wasag, Bartosz, Chmara, Magdalena, Wang, Zengfeng, Butzow, Ralf, Lasota, Jerzy

“…Loss-of-function germline mutations in the fumarase ( FH )-gene of the Krebs cycle characterize hereditary leiomyomatosis and renal cell cancer…”
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Cardiovascular risk factor profiles in familial hypercholesterolemia patients with and without genetic mutation compared to a nationally representative sample of adults in a high-risk European country by Chlebus, Krzysztof, Zdrojewski, Tomasz, Gruchała, Marcin, Gałąska, Rafał, Pajkowski, Marcin, Kocejko, Marzena Romanowska, Chmara, Magdalena, Pencina, Michael J.

“…There is a paucity of data on the distribution of cardiovascular risk factors in patients with familial hypercholesterolemia (FH) as compared to the general…”
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Multiple pilomatricomas with somatic CTNNB1 mutations in children with constitutive mismatch repair deficiency by Chmara, Magdalena, Wernstedt, Annekatrin, Wasag, Bartosz, Peeters, Hilde, Renard, Marleen, Beert, Eline, Brems, Hilde, Giner, Tina, Bieber, Imke, Hamm, Henning, Sciot, Raf, Wimmer, Katharina, Legius, Eric

“…Constitutional mismatch repair deficiency (CMMR‐D) due to biallelic germline mutations in one of four mismatch repair genes causes a childhood cancer syndrome…”
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The novel pathogenic variant in the LMNA gene in a four-generation family with sudden deaths and cardiomyopathy: Utility of molecular autopsy by Zienciuk-Krajka, Agnieszka, Chmara, Magdalena, Lica-Gorzynska, Monika, Dorniak, Karolina, Kwiatkowska, Joanna, Kowalski, Jacek, Kaufmann, Damian, Daniłowicz-Szymanowicz, Ludmiła, Raczak, Grzegorz

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