Zobrazeno 1 - 10
of 14
pro vyhledávání: '"Jana Šoukalová"'
Autor:
Renata Formankova, Veronika Kanderova, Marketa Rackova, Michael Svaton, Tomas Brdicka, Petr Riha, Petra Keslova, Ester Mejstrikova, Marketa Zaliova, Tomas Freiberger, Hana Grombirikova, Zuzana Zemanova, Marcela Vlkova, Filip Fencl, Ivana Copova, Jiri Bronsky, Petr Jabandziev, Petr Sedlacek, Jana Soukalova, Ondrej Zapletal, Jan Stary, Jan Trka, Tomas Kalina, Karolina Skvarova Kramarzova, Eva Hlavackova, Jiri Litzman, Eva Fronkova
Publikováno v:
Frontiers in Immunology, Vol 10 (2019)
Mutations in the Sterile alpha motif domain containing 9 (SAMD9) gene have been described in patients with severe multisystem disorder, MIRAGE syndrome, but also in patients with bone marrow (BM) failure in the absence of other systemic symptoms. The
Externí odkaz:
https://doaj.org/article/bd4b5e4e6b0447a18fa5370f40186de9
Autor:
Ondřej Bonczek, Peter Bielik, Přemysl Krejčí, Tomáš Zeman, Lýdie Izakovičová-Hollá, Jana Šoukalová, Jiří Vaněk, Tereza Gerguri, Vladimir J Balcar, Omar Šerý
Publikováno v:
PLoS ONE, Vol 13, Iss 9, p e0202989 (2018)
Tooth agenesis is one of the most common craniofacial disorders in humans. More than 350 genes have been associated with teeth development. In this study, we enrolled 60 child patients (age 13 to 17) with various types of tooth agenesis. Whole gene s
Externí odkaz:
https://doaj.org/article/fe2e3f92cb0c436d82c2eb70686d7885
Autor:
Peter Bielik, Ondřej Bonczek, Přemysl Krejčí, Tomáš Zeman, Lydie Izakovičová-Hollá, Jana Šoukalová, Jiří Vaněk, Bořivoj Vojtěšek, Jan Lochman, Vladimir J. Balcar, Omar Šerý
Publikováno v:
Clinical oral investigationsReferences. 26(12)
The aim of this study was the analysis of WNT10A variants in seven families of probands with various forms of tooth agenesis and self-reported family history of cancer.We enrolled 60 young subjects (aged 13 to 17) from the Czech Republic with various
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3e6a59fed443e22a985d3d8d12a0feab
https://pubmed.ncbi.nlm.nih.gov/35999385
https://pubmed.ncbi.nlm.nih.gov/35999385
Autor:
Ondřej Horák, Martina Burešová, Senad Kolář, Klára Španělová, Barbora Jeřábková, Renata Gaillyová, Katarína Česká, Kamila Réblová, Jana Šoukalová, Jana Zídková, Lenka Fajkusová, Hana Ošlejšková, Ivan Rektor, Pavlína Danhofer
Publikováno v:
Epilepsybehavior : EB. 128
The primary goal was to determine the yield of next-generation sequencing (NGS) epilepsy gene panels used for epilepsy etiology diagnosing using a multidisciplinary approach and to demonstrate the importance of genotype-phenotype correlations. The se
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7f018e4bcd84b9d3d81d897a4a67fa80
https://pubmed.ncbi.nlm.nih.gov/35065395
https://pubmed.ncbi.nlm.nih.gov/35065395
Autor:
Věra Hořínová, Klára Drábová, Hana Nosková, Viera Bajčiová, Jana Šoukalová, Leona Černá, Věra Hůrková, Ondřej Slabý, Jaroslav Štěrba
Publikováno v:
Klinicka Onkologie. 32
DICER1 syndrome is an inherited disorder that increases the risk of different types of malignant and benign tumors. The syndrome is caused by mutations in the DICER1 gene, which is located on the long arm of chromosome 14, region q32.13. Patients wit
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::266bc8a31ac84bc29305bc2054a8d090
https://doi.org/10.14735/amko2019s123
https://doi.org/10.14735/amko2019s123
Autor:
Petr Kuglík, Renata Gaillyová, Aneta Mikulasova, Kristýna Melichárková, Helena Janyšková, Jana Šoukalová, Marta Ježová, Karel Zitterbart, Kateřina Kašíková, Klára Vejmělková, Tereza Cermanová, Zdeněk Pavelka, Šárka Pospíšilová, Iveta Valášková, Jaroslav Štěrba
Publikováno v:
Europe PubMed Central
BACKGROUND Medulloblastoma, an embryonal neuroectodermal tumor of the cerebellum, is the most common malignant brain tumor in children. There are approximately 15 cases diagnosed in the Czech Republic each year. The recent World Health Organization c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e3425d5f3334fcf2a4eb18abb30e2e33
https://doi.org/10.14735/amko2016s83
https://doi.org/10.14735/amko2016s83
Autor:
Jiří Vaněk, Jana Šoukalová, Peter Bielik, Ondřej Bonczek, Lýdie Izakovičová-Hollá, Tomáš Zeman, Omar Šerý, Přemysl Krejčí, Vladimir J. Balcar, Tereza Gerguri
Publikováno v:
PLoS ONE, Vol 13, Iss 9, p e0202989 (2018)
PLoS ONE
PLoS ONE
Tooth agenesis is one of the most common craniofacial disorders in humans. More than 350 genes have been associated with teeth development. In this study, we enrolled 60 child patients (age 13 to 17) with various types of tooth agenesis. Whole gene s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d41513f05a8c85a513bab691dac1e8d1
http://europepmc.org/articles/PMC6128526?pdf=render
http://europepmc.org/articles/PMC6128526?pdf=render
Autor:
Ondrej Rohleder, Jaroslav Sterba, Renata Veselská, Ondrej Slaby, Jana Šoukalová, Peter Múdry, Elleni Michu, Marta Jezova, Kristyna Melicharkova, Jakub Neradil, Anna Seehofnerová
Publikováno v:
BMC Cancer
Background Infantile myofibromatosis belongs to a family of soft tissue tumors. The majority of these tumors have benign behavior but resistant and malignant courses are known, namely in tumors with visceral involvement. The standard of care is surgi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0c2340ec4fcf4a79f2a5e9b8327f03d6
https://doi.org/10.1186/s12885-017-3115-x
https://doi.org/10.1186/s12885-017-3115-x
Autor:
Petr Kuglík, Hana Filková, Renata Gaillyová, Marketa Wayhelova, Jana Šoukalová, Eva Hladílková, Jan Smetana, Jan Oppelt
Publikováno v:
Journal of Neurological Disorders. 5
Early infantile epileptic encephalopathy/Ohtahara syndrome represents a group of genetically heterogeneous disorders affecting normal brain development and functioning. In this work, we present a case of two unrelated children diagnosed with early in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::670409c430876a6bb640007099142e36
https://doi.org/10.4172/2329-6895.1000369
https://doi.org/10.4172/2329-6895.1000369
Autor:
Ivana Slámová, Petr Kuglík, Miluše Vilémová, Jana Šoukalová, Eva Zrnová, Renata Gaillyová, Vladimíra Vranová
Publikováno v:
Molecular Syndromology. 2:88-93
We report an infant with a unique combination of 22q11 deletion syndrome and 14q terminal deletion syndrome. The proband had clinical symptoms compatible with diagnosis of 22q11 deletion syndrome: microcephaly, micrognathia, high-arched palate, hyper
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::55448139ed0aab7be0dae23c2b939a0c
https://doi.org/10.1159/000335334
https://doi.org/10.1159/000335334