Zobrazeno 1 - 10
of 31
pro vyhledávání: '"Aleš Hořínek"'
Autor:
Pavlina Skalicka, Jana Jedlickova, Ales Horinek, Marie Trkova, Alice E. Davidson, Stephen J. Tuft, Lubica Dudakova, Petra Liskova
Publikováno v:
Journal of Clinical Medicine, Vol 11, Iss 17, p 5166 (2022)
We report the phenotype of a 15-year-old female patient with anterior segment dysgenesis (ASD) caused by a novel heterozygous loss-of-function FOXC1 variant. The proband underwent an ophthalmic examination as well as a molecular genetic investigation
Externí odkaz:
https://doaj.org/article/dfde5b713f0f458682ca3969dbf0f348
Autor:
Cerys J. Evans, Lubica Dudakova, Pavlina Skalicka, Gabriela Mahelkova, Ales Horinek, Alison J. Hardcastle, Stephen J. Tuft, Petra Liskova
Publikováno v:
BMC Ophthalmology, Vol 18, Iss 1, Pp 1-7 (2018)
Abstract Background The purpose of this study was to identify the genetic cause and describe the clinical phenotype of Schnyder corneal dystrophy (SCD) in six unrelated probands. Methods We identified two white Czech, two white British and two South
Externí odkaz:
https://doaj.org/article/5dffa357c27e46e881091d2efe2a00aa
Autor:
Soňa Laššáková, Pavel Šenkyřík, Eva Pazourková, Aleš Hořínek, Pavel Calda, Miroslav Břešťák, Kamila Světnicová, Pavel Neužil, Marie Korabečná
Publikováno v:
Scientific Reports, Vol 13, Iss 1, Pp 1-10 (2023)
Abstract Non-invasive prenatal tests for the detection of fetal aneuploidies are predominantly based on the analysis of cell-free DNA (cfDNA) from the plasma of pregnant women by next-generation sequencing. The development of alternative tests for ro
Externí odkaz:
https://doaj.org/article/d416085b8c5b46fa8c8b8389945286d8
Autor:
Iveta Svobodová, Eva Pazourková, Aleš Hořínek, Michaela Novotná, Pavel Calda, Marie Korabečná
Publikováno v:
PLoS ONE, Vol 10, Iss 11, p e0142572 (2015)
Detection and characterization of circulating cell-free fetal DNA (cffDNA) from maternal circulation requires an extremely sensitive and precise method due to very low cffDNA concentration. In our study, droplet digital PCR (ddPCR) was implemented fo
Externí odkaz:
https://doaj.org/article/1ae26d8e69454b258fdf908afdc26559
Autor:
Aleš Hořínek, Ondřej Šeda, Eva Pazourkova, Iveta Zednikova, Miroslava Krkavcová, Blanka Chylíková, Pavel Calda, Marie Korabecna, Miroslav Břešťák
Publikováno v:
Molecular Biology Reports
Down syndrome (DS) is one of the most common causes of intellectual disability and new approaches allowing its rapid and effective prenatal detection are being explored. In this study, we investigated the diagnostic potential of plasma microRNAs (miR
Autor:
Luděk Záveský, Lenka Záveská Drábková, Aleš Hořínek, Vít Weinberger, Eva Jandáková, Luboš Minář, Veronika Hanzíková, Daniela Dušková, Iveta Svobodová
Publikováno v:
Reproductive Sciences. 26:510-522
Ovarian cancer as the most fatal gynecological malignancy is often manifested by excessive fluid accumulation known as ascites or effusion. Ascites-derived microRNAs (miRNAs) may be closely associated with ovarian cancer progression. However, our kno
Autor:
Luděk Záveský, Eva Jandáková, Vít Weinberger, Luboš Minář, Veronika Hanzíková, Daniela Dušková, Adéla Faridová, Radovan Turyna, Ondřej Slanař, Aleš Hořínek, Milada Kohoutová
Publikováno v:
Molecular biology reports. 49(3)
Breast cancer is a leading cause of cancer-related death in women. Most cases are invasive ductal carcinomas of no special type (NST breast carcinomas).In this prospective, multicentric biomarker discovery study, we analyzed the expression of small n
Autor:
Lenka Záveská Drábková, Eva Jandáková, Luděk Záveský, Luboš Minář, Veronika Hanzíková, Vít Weinberger, Daniela Dušková, Aleš Hořínek
Publikováno v:
Cancer investigation. 37(9)
Ovarian cancer is the deadliest gynecologic cancer. The large-scale microRNA (miRNA) expression profiling and individual miRNA validation was performed to find potential novel biomarkers for ovarian cancer. The most consistent overexpression of miRs-
Autor:
Marie Korabecna, Šárka Pospíšilová, Miroslav Břešťák, Pavel Calda, Miroslava Krkavcová, Iveta Svobodova, Eva Pazourkova, Michaela Novotná, Aleš Hořínek
Publikováno v:
Prenatal Diagnosis. 36:775-784
Objective Molecular pathogenesis of Down syndrome (DS) is still incompletely understood. Epigenetic mechanisms, including miRNAs gene expression regulation, belong to potential influencing factors. The aims of this study were to compare miRNAs expres
Autor:
Luděk Záveský, Jandáková, Eva, Weinberger, Vít, Luboš Minář, Hanzíková, Veronika, Dušková, Daniela, Drábková, Lenka Záveská, Svobodová, Iveta, Aleš Hořínek
Supplementary_Table_S2_RS_FINALafter_review for Ascites-Derived Extracellular microRNAs as Potential Biomarkers for Ovarian Cancer by Luděk Záveský, Eva Jandáková, Vít Weinberger, Luboš Minář, Veronika Hanzíková, Daniela Dušková, Lenka Z
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::31f5109cb768f2053adce2eaf6be40a9