Search Results - "Kleiblová, P"

The influence of hormonal changes during menstrual cycle on serum adiponectin concentrations in healthy women by Kleiblová, P, Springer, D, Haluzík, M

“…Adiponectin is an adipocyte-derived hormone involved in the regulation of carbohydrate and lipid metabolism. Its concentrations are decreased in patients with…”
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Hereditary truncating mutations of DNA repair and other genes in BRCA1/BRCA2/PALB2-negatively tested breast cancer patients by Lhota, F., Zemankova, P., Kleiblova, P., Soukupova, J., Vocka, M., Stranecky, V., Janatova, M., Hartmannova, H., Hodanova, K., Kmoch, S., Kleibl, Z.

“…Hereditary breast cancer comprises a minor but clinically meaningful breast cancer (BC) subgroup. Mutations in the major BC‐susceptibility genes are important…”
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Expression of adipokines and estrogen receptors in adipose tissue and placenta of patients with gestational diabetes mellitus by Kleiblova, P., Dostalova, I., Bartlova, M., Lacinova, Z., Ticha, I., Krejci, V., Springer, D., Kleibl, Z., Haluzik, M.

“…The purpose of this study was to assess the expression profile of genes with potential role in the development of insulin resistance (adipokines,…”
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RE: frameshift variant FANCLc.1096_1099dupATTA is not associated with high breast cancer risk by Zemankova, P., Lhota, F., Kleiblova, P., Soukupova, J., Vocka, M., Janatova, M., Kleibl, Z.

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Functional evaluation of breast cancer case-associated non-coding variants in BRCA1/2 by Sevcik, J, Janatova, M, Kleibl, Z, Kleiblova, P, Borecka, M, Zemankova, P, Zdarilova, K, Stolarova, L, Brown, M

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Identification of pancreatic cancer susceptibility genes in the Czech Republic by Borecka, M, Janatova, M, Zemánková, P, Stolarova, L, Zdarilova, K, Soukupova, J, Sevcik, J, Kleiblova, P, Kleibl, Z

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CHEK2 gene analysis in 1020 high-risk breast and ovarian cancer patients in the Czech Republic by Stolarova, L, Kleiblova, P, Zemankova, P, Janatova, M, Borecka, M, Zdarilova, K, Sevcik, J, Soukupova, J, Kleibl, Z

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Classifying variants in the CHEK2 gene: the importance of collaboration by Espenschied, C, Kleiblova, P, Richardson, M, Stolarova, L, Soukupova, J, Zemankova, P, Vocka, M, Panos Smith, L, Dolinsky, J, Gau, C.L, Kleibl, Z

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Mutation analysis of the PALB2 gene in unselected pancreatic cancer patients in the Czech Republic by Borecka, M, Zemankova, P, Vocka, M, Soucek, P, Soukupova, J, Kleiblova, P, Sevcik, J, Kleibl, Z, Janatova, M

“…Abstract Pancreatic ductal adenocarcinoma (PDAC) has the worst prognosis among common solid cancer diagnoses. It has been shown that up to 10% of PDAC cases…”
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965: Characterization of breast cancer (BC) predisposition variants in high risk BRCA1- and BRCA2-negative BC patients using panel next-gen sequencing by Lhota, F, Boudova, P, Stranecky, V, Soukupova, J, Kleiblova, P, Hojny, J, Janatova, M, Borecka, M, Pohlreich, P, Kleibl, Z

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328: Identification and quantification of BRCA1 splicing variants by Lhota, F, Hojny, J, Kleiblova, P, Sevcik, J, Soukupova, J, Janatova, M, Boudova, P, Borecka, M, Pohlreich, P, Kleibl, Z

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967: Hereditary variants of genes coding for TP53 and its regulators (CHK2 and WIP1) in high-risk breast cancer patients by Kleiblova, P, Hojny, J, Lhota, F, Macurek, L, Soukupova, J, Janatova, M, Boudova, P, Borecka, M, Pohlreich, P, Kleibl, Z

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959: Identification of pathogenic mutations in RAD51 paralogs in BRCA1/2-negative ovarian cancer patients in the Czech Republic by Janatova, M, Soukupova, J, Kleibl, Z, Kleiblova, P, Lhota, F, Hojny, J, Borecka, M, Boudova, P, Pohlreich, P

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419 USER-based Approach for Identification of BRCA1 Alternative Splicing Variants by Lhota, F, Kleiblova, P, Hojny, J, Sevcik, J, Janatova, M, Pohlreich, P, Kleibl, Z

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Influence of dihydropyrimidine dehydrogenase gene (DPYD) coding sequence variants on the development of fluoropyrimidine-related toxicity in patients with high-grade toxicity and patients with excellent tolerance of fluoropyrimidine-based chemotherapy by Kleibl, Z, Fidlerova, J, Kleiblova, P, Kormunda, S, Bilek, M, Bouskova, K, Sevcik, J, Novotny, J

“…Alterations in dihydropyrimidine dehydrogenase gene (DPYD) coding for the key enzyme (DPD) of fluoropyrimidines (FPs) catabolism contribute to the development…”
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418 Alternative Splicing Variants BRCA1Δ14-15 and Δ17-19 Differentially Impair the DNA Double Strand Break Response of MCF-7 Cells by Sevcik, J, Falk, M, Kleiblova, P, Lhota, F, Janatova, M, Hojny, J, Pohlreich, P, Kleibl, Z

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The guidelines for clinical practice for carriers of germline mutations in hereditary breast, ovarian, prostate, and pancreatic cancer predisposition genes BRCA1, BRCA2, PALB2, ATM, and CHEK2 (4.2024) by Kleiblová, P, Novotný, J, Cibula, D, Curtisová, V, Dubová, O, Foretová, L, Germanová, A, Janatová, M, Havránek, O, Hojsáková, M, Hudcová, M, Koudová, M, Krutílková, V, Palacova, M, Paulich, S, Petrakova, K, Presl, J, Puchmajerová, A, Soukupová, J, Šenkeříková, M, Šimková, Z, Štěpánková, H, Šubrt, I, Tachecí, I, Tesner, P, Urban, O, Veselá, K, Vilímová, Š, Vlčková, Z, Vočka, M, Weinberger, V, Zikán, M, Zimovjanová, M, Kleibl, Z

“…The Guidelines for Clinical Practice for carriers of pathogenic variants in clinically relevant cancer predisposition genes define the steps of primary and…”
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Long-term BRCA1 down-regulation by small hairpin RNAs targeting the 3' untranslated region by Vondruskova, E, Malik, R, Sevcik, J, Kleiblova, P, Kleibl, Z

“…Mutations in the BRCA1 gene are responsible for the majority of hereditary breast/ovarian cancers. The functional significance of many mutations/splicing…”
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CZECANCA: CZEch CAncer paNel for Clinical Application-- Design and Optimization of the Targeted Sequencing Panel for the Identification of Cancer Susceptibility in High-risk Individuals from the Czech Republic by Soukupová, J, Zemánková, P, Kleiblová, P, Janatová, M, Kleibl, Z

“…Individuals with hereditary cancer syndromes form a minor but clinically important subgroup of oncology patients, comprising several thousand cases in the…”
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507 In vitro analysis of population specific BRCA1 splicing variants by Sevcik, J, Falk, M, Kleiblova, P, Lhota, F, Pohlreich, P, Kleibl, Z

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