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Pitfalls of X-chromosome inactivation testing in females with Fabry disease.
Řeboun M, Sikora J, Magner M, Wiederlechnerová H, Černá A, Poupětová H, Štorkánova G, Mušálková D, Dostálová G, Goláň L, Linhart A, Dvořáková L. Řeboun M, et al. Among authors: dvorakova l. Am J Med Genet A. 2022 Jul;188(7):1979-1989. doi: 10.1002/ajmg.a.62728. Epub 2022 Mar 26. Am J Med Genet A. 2022. PMID: 35338595
Alu-mediated Xq24 deletion encompassing CUL4B, LAMP2, ATP1B4, TMEM255A, and ZBTB33 genes causes Danon disease in a female patient.
Majer F, Kousal B, Dusek P, Piherova L, Reboun M, Mihalova R, Gurka J, Krebsova A, Vlaskova H, Dvorakova L, Krihova J, Liskova P, Kmoch S, Kalina T, Kubanek M, Sikora J. Majer F, et al. Among authors: dvorakova l. Am J Med Genet A. 2020 Jan;182(1):219-223. doi: 10.1002/ajmg.a.61416. Epub 2019 Nov 15. Am J Med Genet A. 2020. PMID: 31729179
X-Chromosome Inactivation Analysis in Different Cell Types and Induced Pluripotent Stem Cells Elucidates the Disease Mechanism in a Rare Case of Mucopolysaccharidosis Type II in a Female.
Řeboun M, Rybová J, Dobrovolný R, Včelák J, Veselková T, Štorkánová G, Mušálková D, Hřebíček M, Ledvinová J, Magner M, Zeman J, Pešková K, Dvořáková L. Řeboun M, et al. Among authors: dvorakova l. Folia Biol (Praha). 2016;62(2):82-9. Folia Biol (Praha). 2016. PMID: 27187040 Free article.
Mucopolysaccharidosis type I in 21 Czech and Slovak patients: mutation analysis suggests a functional importance of C-terminus of the IDUA protein.
Vazna A, Beesley C, Berna L, Stolnaja L, Myskova H, Bouckova M, Vlaskova H, Poupetova H, Zeman J, Magner M, Hlavata A, Winchester B, Hrebicek M, Dvorakova L. Vazna A, et al. Among authors: dvorakova l. Am J Med Genet A. 2009 May;149A(5):965-74. doi: 10.1002/ajmg.a.32812. Am J Med Genet A. 2009. PMID: 19396826 Free PMC article.
The coincidence of IgA nephropathy and Fabry disease.
Maixnerová D, Tesař V, Ryšavá R, Reiterová J, Poupětová H, Dvořáková L, Goláň L, Neprašová M, Kidorová J, Merta M, Honsová E. Maixnerová D, et al. Among authors: dvorakova l. BMC Nephrol. 2013 Jan 11;14:6. doi: 10.1186/1471-2369-14-6. BMC Nephrol. 2013. PMID: 23305247 Free PMC article.
Variable X-chromosome inactivation and enlargement of pericentral glutamine synthetase zones in the liver of heterozygous females with OTC deficiency.
Musalkova D, Sticova E, Reboun M, Sokolova J, Krijt J, Honzikova J, Gurka J, Neroldova M, Honzik T, Zeman J, Jirsa M, Dvorakova L, Hrebicek M. Musalkova D, et al. Among authors: dvorakova l. Virchows Arch. 2018 Jun;472(6):1029-1039. doi: 10.1007/s00428-018-2345-x. Epub 2018 Apr 6. Virchows Arch. 2018. PMID: 29623395
Transcript, protein, metabolite and cellular studies in skin fibroblasts demonstrate variable pathogenic impacts of NPC1 mutations.
Musalkova D, Majer F, Kuchar L, Luksan O, Asfaw B, Vlaskova H, Storkanova G, Reboun M, Poupetova H, Jahnova H, Hulkova H, Ledvinova J, Dvorakova L, Sikora J, Jirsa M, Vanier MT, Hrebicek M. Musalkova D, et al. Among authors: dvorakova l. Orphanet J Rare Dis. 2020 Apr 5;15(1):85. doi: 10.1186/s13023-020-01360-5. Orphanet J Rare Dis. 2020. PMID: 32248828 Free PMC article.
142 results