Search Results - "Bóday, Arpád"

Expanding the phenotype spectrum associated with pathogenic variants in the COL2A1 and COL11A1 genes by Čopíková, Jana, Paděrová, Jana, Románková, Věra, Havlovicová, Markéta, Balaščáková, Miroslava, Zelinová, Michaela, Vejvalková, Šárka, Simandlová, Martina, Štěpánková, Jana, Hořínová, Věra, Kantorová, Eva, Křečková, Gabriela, Pospíšilová, Jana, Boday, Arpád, Meszarosová, Anna Uhrová, Turnovec, Marek, Votýpka, Pavel, Lišková, Petra, Kremlíková Pourová, Radka

“…We report the clinical findings of 26 individuals from 16 unrelated families carrying variants in the COL2A1 or COL11A1 genes. Using Sanger and next‐generation…”
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Malignant Melanoma - from Classical Histology towards Molecular Genetic Testing by Ryška, A, Horký, O, Berkovcová, J, Tichá, I, Kalinová, M, Matějčková, M, Bóday, Á, Drábek, J, Martínek, P, Šimová, J, Sieglová, K, Vošmiková, H

“…Malignant melanoma is - in comparison with other skin tumors - a relatively rare malignant neoplasm with highly aggressive biologic behavior and variable…”
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KRAS mutation testing in therapeutic algorithm for treatment of metastatic colorectal carcinoma by Dubská, Lenka, Vyskocilová, Martina, Nenutil, Rudolf, Valík, Dalibor, Knoflícková, Dana, Fabian, Pavel, Kocáková, Ilona, Demlová, Regina, Beránek, Martin, Drastíková, Monika, Vosmiková, Hana, Bóday, Arpád, Horká, Katerina, Símová, Jarmila, Drábek, Jirí, Ehrmann, Jirí, Hajdúch, Marián, Matejcková, Milada, Síma, Radek, Tvrdík, Daniel, Povýsil, Ctibor, Ryska, Ales

“…Targeted therapy has become an integral part of treatment procedures of malignant tumors. Colorectal carcinomas are frequently targeted with monoclonal…”
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Leber congenital amaurosis and early onset severe retinal dystrophy in the Czech Republic: Mutational spectrum and clinical findings by Vajter, Marie, Kousal, Bohdan, Moravikova, Jana, Chylova, Monika, Dudakova, Lubica, Stankova, Daniela, Boday, Arpad, Krutilkova, Vera, Liskova, Petra

“…Purpose: Leber congenital amaurosis (LCA)/early onset severe retinal dystrophy (EOSRD) is a group of ultra‐rare retinal diseases with an estimated prevalence…”
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Newly designed 11-gene panel reveals first case of hereditary amyloidosis captured by massive parallel sequencing by Chyra Kufova, Zuzana, Sevcikova, Tereza, Januska, Jaroslav, Vojta, Petr, Boday, Arpad, Vanickova, Pavla, Filipova, Jana, Growkova, Katerina, Jelinek, Tomas, Hajduch, Marian, Hajek, Roman

“…Amyloidosis is caused by deposition of abnormal protein fibrils, leading to damage of organ function. Hereditary amyloidosis represents a monogenic disease…”
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Genotype/phenotype correlation in a SCA1 family: anticipation without CAG expansion by Bauer, Peter O, Matoska, Vaclav, Zumrova, Alena, Boday, Arpad, Doi, Hiroshi, Marikova, Tatana, Goetz, Petr

“…We report on a family with spinocerebellar ataxia type 1 (SCA1), in which the age at onset and the severity of the disease do not correlate with the number of…”
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