Long-Term Peritoneal Dialysis Treatment Provokes Activation of Genes Related to Adaptive Immunity von PARIKOVA, A., HRUBA, P., KREDIET, R., KREJCIK, Z., STRANECKY, V., STRIZ, I., VIKLICKY, O.

Volltext

Hereditary truncating mutations of DNA repair and other genes in BRCA1/BRCA2/PALB2-negatively tested breast cancer patients von Lhota, F., Zemankova, P., Kleiblova, P., Soukupova, J., Vocka, M., Stranecky, V., Janatova, M., Hartmannova, H., Hodanova, K., Kmoch, S., Kleibl, Z.

Volltext

Segregation of novel p.(Ser270Tyr) MAF mutation and p.(Tyr56) CRYGD variant in a family with dominantly inherited congenital cataracts von Liskova, P., Dudakova, L., Stranecky, V., Hlavova, E., Vincent, A.

Volltext

Ornithine carbamoyltransferase deficiency: molecular characterization of 29 families von Storkanova, G, Vlaskova, H, Chuzhanova, N, Zeman, J, Stranecky, V, Majer, F, Peskova, K, Luksan, O, Jirsa, M, Hrebicek, M, Dvorakova, L

Volltext

Hereditary haemochromatosis caused by homozygous HJV mutation evolved through paternal disomy von Neřoldová, M., Fraňková, S., Stránecký, V., Honsová, E., Lukšan, O., Beneš, M., Michalová, K., Kmoch, S., Jirsa, M.

Volltext

965: Characterization of breast cancer (BC) predisposition variants in high risk BRCA1- and BRCA2-negative BC patients using panel next-gen sequencing von Lhota, F, Boudova, P, Stranecky, V, Soukupova, J, Kleiblova, P, Hojny, J, Janatova, M, Borecka, M, Pohlreich, P, Kleibl, Z

Volltext

Large Copy-Number Variations in Patients With Statin-Associated Myopathy Affecting Statin Myopathy-Related Loci von STRÁNECKÝ, V., NEŘOLDOVÁ, M., HODAŇOVÁ, K., HARTMANNOVÁ, H., PIHEROVÁ, L., ZEMÁNKOVÁ, P., PŘISTOUPILOVÁ, A., VRABLÍK, M., ADÁMKOVÁ, M., KMOCH, S., JIRSA, M.

Volltext

DNAJC30 defect: a frequent cause of recessive Leber hereditary optic neuropathy and Leigh syndrome von Stenton, Sarah L, Tesarova, Marketa, Sheremet, Natalia L, Catarino, Claudia B, Carelli, Valerio, Ciara, Elżbieta, Curry, Kathryn, Engvall, Martin, Fleming, Leah R, Freisinger, Peter, Iwanicka-Pronicka, Katarzyna, Jurkiewicz, Elżbieta, Klopstock, Thomas, Koenig, Mary K, Kolářová, Hana, Kousal, Bohdan, Krylova, Tatiana, La Morgia, Chiara, Nosková, Lenka, Piekutowska-Abramczuk, Dorota, Russo, Sam N, Stránecký, Viktor, Tóthová, Iveta, Träisk, Frank, Prokisch, Holger

Volltext

Mutation in a non-desmosomal gene is associated with poor outcome of endo-epicardial ventricular tachycardia ablation in patients with nonischaemic cardiomyopathy von Peichl, P, Krebsova, A, Wichterle, D, Piherova, L, Norambuena, P, Stranecky, V, Kmoch, S, Macek, M, Cihak, R, Kautzner, J

Volltext

Lipoprotein lipase deficiency: clinical, biochemical and molecular characteristics in three patients with novel mutations in the LPL gene von Kolářová, H, Tesařová, M, Švecová, Š, Stránecký, V, Přistoupilová, A, Zima, T, Uhrová, J, Volgina, S Y, Zeman, J, Honzík, T

Volltext

P6451Genetics of recent-onset dilated cardiomyopathy as a predictor of left ventricular reverse remodelling von Chaloupka, A, Krejci, J, Piherova, L, Grochova, I, Binova, J, Stranecky, V, Kmoch, S, Spinarova, L, Kubanek, M

Volltext

Clinical manifestations and molecular aspects of phosphoribosylpyrophosphate synthetase superactivity in females von Zikánová, Marie, Wahezi, Dawn, Hay, Arielle, Stibůrková, Blanka, Pitts, Charles, Mušálková, Dita, Škopová, Václava, Barešová, Veronika, Součková, Olga, Hodaňová, Kateřina, Živná, Martina, Stránecký, Viktor, Hartmannová, Hana, Hnízda, Ales, Bleyer, Anthony J, Kmoch, Stanislav

Volltext

P6330Genetic predictors of left ventricular reverse remodeling in recent-onset dilated cardiomyopathy assessed by whole exome sequencing von Kubanek, M, Binova, J, Kotrc, M, Piherova, L, Stranecky, V, Palecek, T, Chaloupka, A, Krejci, J, Petrkova, J, Melenovsky, V, Kmoch, S, Kautzner, J

Volltext

5162Novel insights into desminopathy in the era of next generation sequencing von Kubanek, M, Schimerova, T, Piherova, L, Krebsova, A, Hansikova, H, Zeman, J, Palecek, T, Houstek, J, Zamecnik, J, Macek Jr, M, Ridzon, P, Stranecky, V, Kmoch, S, Melenovsky, V, Kautzner, J

Volltext

Review of SRD5A3 Disease-Causing Sequence Variants and Ocular Findings in Steroid 5α-Reductase Type 3 Congenital Disorder of Glycosylation, and a Detailed New Case von Kousal, B, Honzík, T, Hansíková, H, Ondrušková, N, Čechová, A, Tesařová, M, Stránecký, V, Meliška, M, Michaelides, M, Lišková, P

Volltext

3946Comparison of genetic signature of isolated left ventricular non-compaction cardiomyopathy and familial dilated cardiomyopathy as assessed by whole exome sequencing von Kubanek, M., Krebsova, A., Piherova, L., Stranecky, V., Macek Jr, M., Kockova, R., Palecek, T., Malek, F., Melenovsky, V., Kmoch, S., Kautzner, J.

Volltext

1222Characteristics of an arrhythmogenic substrate and results of catheter ablation of ventricular arrhythmias in patients with desmoplakin mutation associated arrhythmogenic cardi... von Peichl, P., Krebsova, A., Wichterle, D., Kubanek, M., Cihak, R., Yamagata, K., Aldhoon, B., Piherova, L., Norambuena, P., Stranecky, V., Kmoch, S., Macek, M., Kautzner, J.

Volltext

Adaptation of respiratory chain biogenesis to cytochrome c oxidase deficiency caused by SURF1 gene mutations von Kovarova, N., Cizkova - Vrbacka, A., Pecina, P., Stranecky, V., Pronicka, E., Kmoch, S., Houstek, J.

Volltext

HEPATIC GENE EXPRESSION IN PRAGUE HEREDITARY HYPERCHOLESTEROLEMIC (PHHC) RAT von Zimolova, M., Kovar, J., Bohuslavova, R., Stranecky, V., Ivanek, R., Jirsa, M., Poledne, R.

Volltext

Transplantation - basic von Hruba, P., Brabcova, I., Krejcik, Z., Stranecky, V., Honsova, E., Viklicky, O., Rocchetti, M. T., Pontrelli, P., Rascio, F., Fiorentino, M., Stallone, G., Gesualdo, L., Grandaliano, G., Lemy, A., Lionet, A., Noel, C., Couzi, L., Taupin, J.-L., Merville, P., Hiesse, C., Suberbielle-Boissel, C., De Meyer, M., Latinne, D., Racape, J., Wissing, K. M., Claas, F. H. J., Toungouz, M., Abramowicz, D., Caballero, A., Ruiz-Esteban, P., Leon, M., Palma-Merida, E., Burgos, D., Cabello, M., Gonzalez-Molina, M., Torres, A., Hernandez, D., Janssen, E. H. C. C., Ledeganck, K. J., Hoenderop, J. G. J., Verpooten, G. A. L., De Winter, B. Y.

Volltext