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Author/Creator Vlaskova, Hana

1. Alu‐mediated Xq24 deletion encompassing CUL4B, LAMP2, ATP1B4, TMEM255A, and ZBTB33 genes causes Danon disease in a female patient. Issue 1 (15th November 2019)

Authors:
Majer, Filip; Kousal, Bohdan; Dusek, Petr; Piherova, Lenka; Reboun, Martin; Mihalova, Romana; Gurka, Jiri; Krebsova, Alice; Vlaskova, Hana; Dvorakova, Lenka; Krihova, Jana; Liskova, Petra; Kmoch, Stanislav; Kalina, Tomas; Kubanek, Milos; Sikora, Jakub
Journal:
American journal of medical genetics
Issue:
Volume 182:Issue 1(2020)
Page Start:
219
Record Type:
Journal Article
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2. LAMP2 exon‐copy number variations in Danon disease heterozygote female probands: Infrequent or underdetected?. Issue 11 (8th September 2018)

Authors:
Majer, Filip; Piherova, Lenka; Reboun, Martin; Stara, Veronika; Pelak, Ondrej; Norambuena, Patricia; Stranecky, Viktor; Krebsova, Alice; Vlaskova, Hana; Dvorakova, Lenka; Kmoch, Stanislav; Kalina, Tomas; Kubanek, Milos; Sikora, Jakub
Journal:
American journal of medical genetics
Issue:
Volume 176:Issue 11(2018)
Page Start:
2430
Record Type:
Journal Article
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3. Mosaic tissue distribution of the tandem duplication of LAMP2 exons 4 and 5 demonstrates the limits of Danon disease cellular and molecular diagnostics. Issue 1 (29th May 2013)

Authors:
Majer, Filip; Pelak, Ondrej; Kalina, Tomas; Vlaskova, Hana; Dvorakova, Lenka; Honzik, Tomas; Palecek, Tomas; Kuchynka, Petr; Masek, Martin; Zeman, Jiri; Elleder, Milan; Sikora, Jakub
Journal:
Journal of inherited metabolic disease
Issue:
Volume 37:Issue 1(2014)
Page Start:
117
Record Type:
Journal Article
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4. Pigmentary retinopathy can indicate the presence of pathogenic LAMP2 variants even in somatic mosaic carriers with no additional signs of Danon disease. Issue 1 (13th June 2020)

Authors:
Kousal, Bohdan; Majer, Filip; Vlaskova, Hana; Dvorakova, Lenka; Piherova, Lenka; Meliska, Martin; Langrova, Hana; Palecek, Tomas; Kubanek, Milos; Krebsova, Alice; Gurka, Jiri; Stara, Veronika; Michaelides, Michel; Kalina, Tomas; Sikora, Jakub; Liskova, Petra
Journal:
Acta ophthalmologica
Issue:
Volume 99:Issue 1(2021)
Page Start:
61
Record Type:
Journal Article
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5. Prevalence of Fabry disease in male patients with unexplained left ventricular hypertrophy in primary cardiology practice: prospective Fabry cardiomyopathy screening study (FACSS). Issue 3 (31st October 2013)

Authors:
Palecek, Tomas; Honzikova, Jitka; Poupetova, Helena; Vlaskova, Hana; Kuchynka, Petr; Golan, Lubor; Magage, Sudheera; Linhart, Ales
Journal:
Journal of inherited metabolic disease
Issue:
Volume 37:Issue 3(2014)
Page Start:
455
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗