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Novel and recurrent germline alterations in the MLH1 and MSH2 genes identified in hereditary nonpolyposis colorectal cancer patients in Slovakia
Title Novel and recurrent germline alterations in the MLH1 and MSH2 genes identified in hereditary nonpolyposis colorectal cancer patients in Slovakia Author Fridrichová Ivana 1958- SAVEXONK - Ústav experimentálnej onkológie SAV ORCID Co-authors Bartošová Zdena 1963- SAVEXONK - Ústav experimentálnej onkológie SAV Škorvaga Milan 1961- SAVEXONK - Ústav experimentálnej onkológie SAV ORCID Bujalková Mária 1975- SAVEXONK - Ústav experimentálnej onkológie SAV Závodná Katarína 1979- SAVEXONK - Ústav experimentálnej onkológie SAV Alemayehu Aster 1980- SAVEXONK - Ústav experimentálnej onkológie SAV Krivulčík Tomáš 1982- SAVEXONK - Ústav experimentálnej onkológie SAV Co-authors Jiricny Josef Marra Giancarlo Source document Neoplasma. Vol. 53, no. 4 (2006), p. 269-276 Language eng - English Country SK - Slovak Republic Document kind rozpis článkov z periodík (rbx) Citations WANAT, Jennifer J. - SINGH, Nikhil - ALANI, Eric. The effect of genetic background on the function of Saccharomyces cerevisiae mlh1 alleles that correspond to HNPCC missense mutations. In HUMAN MOLECULAR GENETICS. ISSN 0964-6906, 2007, vol. 16, no. 4, pp. 445. MORAK, Monika - SCHACKERT, Hans Konrad - RAHNER, Nils - BETZ, Beate - EBERT, Matthias - WALLDORF, Constanze - ROYER-POKORA, Brigitte - SCHULMANN, Karsten - VON KNEBEL-DOEBERITZ, Magnus - DIETMAIER, Wolfgang - KELLER, Gisela - KERKER, Brigitte - LEITNER, Gertraud - HOLINSKI-FEDER, Elke. Further evidence for heritability of an epimutation in one of 12 cases with MLH1 promoter methylation in blood cells clinically displaying HNPCC. In EUROPEAN JOURNAL OF HUMAN GENETICS. ISSN 1018-4813, 2008, vol. 16, no. 7, pp. 804. NAKANISHI, Ryota - KITAO, Hiroyuki - FUJINAKA, Yoshihiko - YAMASHITA, Nami - IIMORI, Makoto - TOKUNAGA, Eriko - YAMASHITA, Natsumi - MORITA, Masaru - KAKEJI, Yoshihiro - MAEHARA, Yoshihiko. FANCJ Expression Predicts the Response to 5-Fluorouracil-Based Chemotherapy in MLH1-Proficient Colorectal Cancer. In ANNALS OF SURGICAL ONCOLOGY. ISSN 1068-9265, 2012, vol. 19, no. 11, pp. 3627. LIU, Qing - THOMPSON, Bryony A. - WARD, Robyn L. - HESSON, Luke B. - SLOANE, Mathew A. Understanding the Pathogenicity of Noncoding Mismatch Repair Gene Promoter Variants in Lynch Syndrome. In HUMAN MUTATION. ISSN 1059-7794, 2016, vol. 37, no. 5, pp. 417-426. HORITA, Shoko - SIMSEK, Enver - SIMSEK, Tulay - YILDIRIM, Nilgun - ISHIURA, Hiroyuki - NAKAMURA, Motonobu - SATOH, Nobuhiko - SUZUKI, Atsushi - TSUKADA, Hiroyuki - MIZUNO, Tomohito - SEKI, George - TSUJI, Shoji - NANGAKU, Masaomi. SLC4A4 compound heterozygous mutations in exon-intron boundary regions presenting with severe proximal renal tubular acidosis and extrarenal symptoms coexisting with Turner's syndrome: a case report. In BMC MEDICAL GENETICS. ISSN 1471-2350, 2018, vol. 19, no., pp. MORAK, Monika - IBISLER, Ayseguel - KELLER, Gisela - JESSEN, Ellen - LANER, Andreas - GONZALES-FASSRAINER, Daniela - LOCHER, Melanie - MASSDORF, Trisari - NISSEN, Anke M. - BENET-PAGES, Anna - HOLINSKI-FEDER, Elke. Comprehensive analysis of the MLH1 promoter region in 480 patients with colorectal cancer and 1150 controls reveals new variants including one with a heritable constitutional MLH1 epimutation. In JOURNAL OF MEDICAL GENETICS. ISSN 0022-2593, 2018, vol. 55, no. 4, pp. 240-248. YANUS, Grigoriy A. - AKHAPKINA, Tatiana A. - IYEVLEVA, Aglaya G. - KORNILOV, Alexandr - SUSPITSIN, Evgeny N. - KULIGINA, Ekaterina Sh - IVANTSOV, Alexandr O. - ALEKSAKHINA, Svetlana N. - SOKOLOVA, Tatiana N. - SOKOLENKO, Anna P. - TOGO, Alexandr - IMYANITOV, Evgeny N. The spectrum of Lynch syndrome-associated germ-line mutations in Russia. In EUROPEAN JOURNAL OF MEDICAL GENETICS. ISSN 1769-7212, 2020, vol. 63, no. 3, pp. Dostupné na: https://doi.org/10.1016/j.ejmg.2019.103753. Category ADDA - Scientific papers in domestic journals registered in Current Contents Connect with IF (impacted) Category of document (from 2022) V3 - Vedecký výstup publikačnej činnosti z časopisu Type of document článok Year 2006 Registered in WOS Registered in SCOPUS 
unrecognised
rok CC IF IF Q (best) JCR Av Jour IF Perc SJR SJR Q (best) CiteScore A rok vydania rok metriky IF IF Q (best) SJR SJR Q (best) 2006 2005 0.731 Q4 0.325 Q4
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