Detection of SHOX gene aberrations in routine diagnostic practice and evaluation of phenotype scoring form effectiveness von Hirschfeldova, Katerina, Florianova, Martina, Kebrdlova, Vera, Urbanova, Marketa, Stekrova, Jitka

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Application of the new insertion–deletion polymorphism kit for forensic identification and parentage testing on the Czech population von Zidkova, Anastassiya, Horinek, Ales, Kebrdlova, Vera, Korabecna, Marie

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PKD2 mutations in a Czech population with autosomal dominant polycystic kidney disease von Štekrová, Jitka, Reiterová, Jana, Merta, Miroslav, Damborský, Jirt, Židovská, Jana, Kebrdlová, Vera, Kohoutová, Milada

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The number of CAG repeats within the normal allele does not influence the age of onset in Huntington's disease von Klempíř, Jiří, Židovská, Jana, Štochl, Jan, Ing, Věra Kebrdlová, Uhrová, Tereza, Roth, Jan

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Detection of variability in apo(a) gene transcription regulatory sequences using the DGGE method von Zídková, Kateřina, Kebrdlová, Věra, Zlatohlávek, Lukáš, Češka, Richard

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Novel mutations of the APC gene and genetic consequences of splicing mutations in the Czech FAP families von Schwarzová, Lucie, Štekrová, Jitka, Florianová, Martina, Novotný, Aleš, Schneiderová, Michaela, Lněnička, Petr, Kebrdlová, Věra, Kotlas, Jaroslav, Veselá, Kamila, Kohoutová, Milada

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Novel APC mutations in Czech and Slovak FAP families: clinical and genetic aspects von Stekrova, Jitka, Sulova, Martina, Kebrdlova, Vera, Zidkova, Katerina, Kotlas, Jaroslav, Ilencikova, Denisa, Vesela, Kamila, Kohoutova, Milada

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New mutations in the PKD1 gene in Czech population with autosomal dominant polycystic kidney disease von Stekrova, Jitka, Reiterova, Jana, Svobodova, Stanislava, Kebrdlova, Vera, Lnenicka, Petr, Merta, Miroslav, Viklicky, Ondrej, Kohoutova, Milada

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Analysis of common SHOX gene sequence variants and ∼4.9-kb PAR1 deletion in ISS patients von SOLC, ROMAN, HIRSCHFELDOVA, KATERINA, KEBRDLOVA, VERA, BAXOVA, ALICE

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Cryptic chromosomal rearrangements in children with idiopathic mental retardation in the Czech population von Hirschfeldova, Katerina, Baxova, Alice, Kebrdlova, Vera, Solc, Roman, Mihalova, Romana, Lnenicka, Petr, Vesela, Kamila, Stekrova, Jitka

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Genetic analysis of candidate genes modifying the age-at-onset in Huntington's disease von METZGER, Silke, BAUER, Peter, SEPPI, Klaus, MELEGH, Bela, HAVASI, Viktoria, BALIKO, Laszlo, WIECZOREK, Stefan, ZAREMBA, Jacek, HOFFMAN-ZACHARSKA, Dorota, SULEK, Anna, NAZLI BASAK, A, SOYDAN, Esra, TOMIUK, Jürgen, ZIDOVSKA, Jana, KEBRDLOVA, Vera, PANDOLFO, Massimo, RIBÏ, Pascale, KADASI, Ludovit, KVASNICOVA, Marta, WEBER, Bernhard H. F, KREUZ, Friedmar, DOSE, Matthias, STUHRMANN, Manfred, LACCONE, Franco, RIESS, Olaf, DIDONATO, Stefano, GELLERA, Cinzia, MARIOTTI, Caterina, LANGE, Herwig W, WEIRICH-SCHWAIGER, Helga, WENNING, Gregor K

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The S18Y polymorphism in the UCHL1 gene is a genetic modifier in Huntington's disease von METZGER, Silke, BAIUER, Peter, MELEGH, Bela, HAVASI, Victoria, BALIKO, Lazlo, WIECZOREK, Stefan, ARNING, Larissa, ZAREMBA, Jacek, SUIEK, Anna, HOFFMAN-ZACHARSKA, Dorota, BASAK, A. Nazli, ERSOY, Nagehan, TOMIUK, Juergen, ZIDOVSKA, Jana, KEBRDLOVA, Vera, PANDOLFO, Massimo, RIBAÏ, Pascale, KADASI, Ludovit, KVASNICOVA, Marta, WEBER, Bernhard H. F, KREUZ, Friedmar, DOSE, Matthias, STUHRMANN, Manfred, LACCONE, Franco, RIESS, Olaf, DIDONATO, Stefano, GELLERA, Cinzia, SOLIVERI, Paola, LANGE, Herwig W, WEIRICH-SCHWAIGER, Helga, WENNING, Gregor K

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