Advancing molecular diagnostics of myotonic dystrophy type 1 using short-read whole genome sequencing

Authors: Ingrid Lojova, Marcel Kucharik, Zuzana Pös, Andrej Balaz, Andrea Zatkova, Eva Tothova Tarova, Jaroslav Budis, Ludevit Kadasi, Tomas Szemes, Jan Radvanszky

Source: Molecular and Cellular Probes, Vol 79, Iss , Pp 102005- (2025)

Subject Terms: Massively parallel sequencing, Myotonic dystrophy type 1, Repeat expansion disorders, Tandem repeats, Whole genome sequencing, Biology (General), QH301-705.5, Medicine

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S0890850824000574; https://doaj.org/toc/0890-8508

Access URL: https://doaj.org/article/fee6c6affefb4e47b519fff932526a46

Correction: Zatkova et al. Analysis of the Phenotype Differences in Siblings with Alkaptonuria. Metabolites 2022, 12, 990

Authors: Andrea Zatkova, Birgitta Olsson, Lakshminarayan R. Ranganath, Richard Imrich

Source: Metabolites, Vol 14, Iss 6, p 339 (2024)

Subject Terms: n/a, Microbiology, QR1-502

File Description: electronic resource

Relation: https://www.mdpi.com/2218-1989/14/6/339; https://doaj.org/toc/2218-1989

Access URL: https://doaj.org/article/40d1e6fac29b448ab006434844895f42

Radiological evolution of spinal disease in alkaptonuria and the effect of nitisinone

Authors: Lakshminarayan R Ranganath, Milad Khedr, Jean-Baptiste Arnoux, Jozef Rovensky, Richard Jackson, Vanda Mlynarikova, Helen Bygott, Birgitta Olsson, Mattias Rudebeck, Andrea Zatkova, Richard Imrich, Olga Lukacova, Jana Sedlakova, Mária Úlehlová, Matthew Gornall, James Gallagher, Roman Stančík, Eva Vrtíková, Elizabeth Záňová, Emily Luangrath

Source: RMD Open, Vol 8, Iss 2 (2022)

Subject Terms: Medicine

File Description: electronic resource

Relation: https://rmdopen.bmj.com/content/8/2/e002422.full; https://doaj.org/toc/2056-5933

Access URL: https://doaj.org/article/7ad17879aed8418c859a209f23af4c38

Analysis of the Phenotype Differences in Siblings with Alkaptonuria

Authors: Andrea Zatkova, Birgitta Olsson, Lakshminarayan R. Ranganath, Richard Imrich

Source: Metabolites, Vol 12, Iss 10, p 990 (2022)

Subject Terms: alkaptonuria, sib study, HGD gene, genotype-phenotype correlation, rare diseases, Microbiology, QR1-502

File Description: electronic resource

Relation: https://www.mdpi.com/2218-1989/12/10/990; https://doaj.org/toc/2218-1989

Access URL: https://doaj.org/article/37e96dc1aa1b4b2fad23a1626a1edf96

ApreciseKUre: an approach of Precision Medicine in a Rare Disease

Authors: Ottavia Spiga, Vittoria Cicaloni, Andrea Bernini, Andrea Zatkova, Annalisa Santucci

Source: BMC Medical Informatics and Decision Making, Vol 17, Iss 1, Pp 1-5 (2017)

Subject Terms: Alkaptonuria, Rare disease, Precision Medicine, Database, Data analysis, Biomarkers, Computer applications to medicine. Medical informatics, R858-859.7

File Description: electronic resource

Relation: http://link.springer.com/article/10.1186/s12911-017-0438-0; https://doaj.org/toc/1472-6947

Access URL: https://doaj.org/article/c47f50d94f5b47e69480c8100f085bbc

Molecularly confirmed pontocerebellar hypoplasia in a large family from Slovakia with four severely affected children.

Authors: Eva, RADVANSKA, Zuzana, POS, Andrea, ZATKOVA, Michaela, HYBLOVA, Frantisek, BAUER, Tomas, SZEMES, Ludevit, KADASI, Jan, RADVANSZKY

Source: Bratislava Medical Journal / Bratislavské Lekárske Listy; 2022, Vol. 123 Issue 8, p568-572, 5p

Subject Terms: MOTOR neurons, SPINAL muscular atrophy, HAPLOTYPES, CELL death, GENETIC testing

Geographic Terms: SLOVAKIA

Combination of expert guidelines-based and machine learning-based approaches leads to superior accuracy of automated prediction of clinical effect of copy number variations

Authors: Tomáš Sládeček, Michaela Gažiová, Marcel Kucharík, Andrea Zaťková, Zuzana Pös, Ondrej Pös, Werner Krampl, Erika Tomková, Michaela Hýblová, Gabriel Minárik, Ján Radvánszky, Jaroslav Budiš, Tomáš Szemes

Source: Scientific Reports, Vol 13, Iss 1, Pp 1-11 (2023)

Subject Terms: Medicine, Science

File Description: electronic resource

Relation: https://doaj.org/toc/2045-2322

Access URL: https://doaj.org/article/669e2d0d78c04bf7beeae744c9539f70

GAB2 is a novel target of 11q amplification in AML/MDS.

Authors: Andrea Zatkova, Claudia Schoch, Frank Speleman, Bruce Poppe, Christine Mannhalter, Christa Fonatsch, Katharina Wimmer

Source: Genes, Chromosomes & Cancer; Sep2006, Vol. 45 Issue 9, p798-807, 10p

Distinct sequences on 11q13.5 and 11q23–24 are frequently coamplified with MLL in complexly organized 11q amplicons in AML/MDS patients.

Authors: Andrea Zatkova, Reinhard Ullmann, Jean Marie Rouillard, Barbara J. Lamb, Rork Kuick, Sam M. Hanash, Susanne Schnittger, Claudia Schoch, Christa Fonatsch, Katharina Wimmer

Source: Genes, Chromosomes & Cancer; Apr2004, Vol. 39 Issue 4, p263-276, 14p

Amplification and overexpression of the IGF2 regulator PLAG1 in hepatoblastoma.

Authors: Andrea Zatkova, Jean-Marie Rouillard, Wolfgang Hartmann, Barbara J. Lamb, Rork Kuick, Markus Eckart, Dietrich von Schweinitz, Arend Koch, Christa Fonatsch, Torsten Pietsch, Sam M. Hanash, Katharina Wimmer

Source: Genes, Chromosomes & Cancer; Feb2004, Vol. 39 Issue 2, p126-137, 12p