Zobrazeno 1 - 10
of 25
pro vyhledávání: '"Miroslava Balascakova"'
Autor:
Adriana A. de Jesus, Guibin Chen, Dan Yang, Tomas Brdicka, Natasha M. Ruth, David Bennin, Dita Cebecauerova, Hana Malcova, Helen Freeman, Neil Martin, Karel Svojgr, Murray H. Passo, Farzana Bhuyan, Sara Alehashemi, Andre T. Rastegar, Katsiaryna Uss, Lela Kardava, Bernadette Marrero, Iris Duric, Ebun Omoyinmi, Petra Peldova, Chyi-Chia Richard Lee, David E. Kleiner, Colleen M. Hadigan, Stephen M. Hewitt, Stefania Pittaluga, Carmelo Carmona-Rivera, Katherine R. Calvo, Nirali Shah, Miroslava Balascakova, Danielle L. Fink, Radana Kotalova, Zuzana Parackova, Lucie Peterkova, Daniela Kuzilkova, Vit Campr, Lucie Sramkova, Angelique Biancotto, Stephen R. Brooks, Cameron Manes, Eric Meffre, Rebecca L. Harper, Hyesun Kuehn, Mariana J. Kaplan, Paul Brogan, Sergio D. Rosenzweig, Melinda Merchant, Zuoming Deng, Anna Huttenlocher, Susan L. Moir, Douglas B. Kuhns, Manfred Boehm, Karolina Skvarova Kramarzova, Raphaela Goldbach-Mansky
Publikováno v:
Nature Communications, Vol 14, Iss 1, Pp 1-13 (2023)
Neutrophilic inflammation is a hallmark of many monogenic autoinflammatory diseases. Here the authors report a case series of three unrelated boys with perinatal-onset of neutrophilic cutaneous small vessel vasculitis and systemic inflammation, and i
Externí odkaz:
https://doaj.org/article/ae467ac9fc384475ae6d8259f8ad7971
Autor:
Michaela Sibikova, Filip Fencl, Jan David, Karel Vondrak, Nadezda Simankova, Miroslava Balascakova, Jana Indrakova, Shenali Anne Amaratunga, Jan Lebl
Publikováno v:
Klinische Pädiatrie.
Autor:
Barbora Straka, Barbora Hermanovska, Lenka Krskova, Josef Zamecnik, Marketa Vlckova, Miroslava Balascakova, Pavel Tesner, Petr Jezdik, Michal Tichy, Martin Kyncl, Alena Musilova, Petra Lassuthova, Petr Marusic, Pavel Krsek
Publikováno v:
Neurology. Genetics. 8(5)
Background and ObjectivesMalformations of cortical development (MCD), though individually rare, constitute a significant burden of disease. The diagnostic yield of next-generation sequencing (NGS) in these patients varies across studies and methods,
Autor:
Věra Hořínová, Jana Paděrová, Miroslava Balascakova, Marketa Havlovicova, Gabriela Křečková, Jana Pospíšilová, Arpád Boday, Sarka Vejvalkova, Eva Kantorová, Jana Čopíková, Pavel Votýpka, Radka Kremlikova Pourova, Martina Simandlova, Petra Liskova, Jana Štěpánková, Michaela Zelinová, Marek Turnovec, Anna Uhrova Meszarosova, Věra Románková
Publikováno v:
Annals of Human Genetics. 84:380-392
We report the clinical findings of 26 individuals from 16 unrelated families carrying variants in the COL2A1 or COL11A1 genes. Using Sanger and next-generation sequencing, 11 different COL2A1 variants (seven novel), were identified in 13 families (19
Autor:
Barbora Straka, Markéta Vlčková, Zuzana Libá, Barbora Heřmanovská, Martin Kynčl, Jana Dorňáková, Jakub Táborský, Pavel Kršek, Alena Musilová, Jan Janota, Miroslava Balaščaková
Publikováno v:
Epilepsia Open, Vol 8, Iss 1, Pp 211-216 (2023)
Abstract Fetal intracranial hemorrhage represents a rare event with an estimated prevalence of 1:10 000 pregnancies. We report a patient diagnosed prenatally with intracranial hemorrhage and ventriculomegaly carrying a novel, previously unreported, l
Externí odkaz:
https://doaj.org/article/a2e0995e10254ea09c975d92a2e9c41a
Autor:
Jakub Zieg, Martin Bezdíčka, Michaela Němčíková, Miroslava Balaščáková, Martina Suková, Katalin Štěrbová, Karel Vondrák, Jiří Dušek, Anna Křepelová
Publikováno v:
Italian Journal of Pediatrics, Vol 49, Iss 1, Pp 1-10 (2023)
Abstract Background Schimke immunoosseous dysplasia (SIOD) is an ultra-rare inherited disease affecting many organ systems. Spondyloepiphyseal dysplasia, T-cell immunodeficiency and steroid resistant nephrotic syndrome are the main symptoms of this d
Externí odkaz:
https://doaj.org/article/427d742ac680453f8b0f9cbcd9383ec2
Publikováno v:
Frontiers in Pediatrics, Vol 11 (2023)
Salt-losing tubulopathies are well-recognised diseases predisposing to metabolic disturbances in affected patients. One of the most severe complications can be life-threatening arrhythmias causing sudden cardiac arrest. We present here the first case
Externí odkaz:
https://doaj.org/article/1a7145bae8084d9b85f21a64ffb2280a
Autor:
Marianne Schwartz, Veronika Skalická, Miroslava Balascakova, Manfred Stuhrmann, Martine Jaspers, Frauke Stanke, Kris De Boeck, Burkhard Tümmler, Isabelle de Monestrol, Judit Korbmacher, Brigitte Boissier, Lena Hjelte, Yann Fichou, Harry Cuppens, L. Bassinet, Mireille Claustres, Abul Kalam Azad, Marie des Georges, Dragica Radojkovic, Christoph Korbmacher, Robert Rauh, Jean-Jacques Cassiman, Martin Schwarz, François Vermeulen, Emmanuelle Girodon, Lieven Dupont, Claude Férec, Carlo Castellani, Patrick Lebecque
Publikováno v:
Human Mutation. 30:1093-1103
We investigated whether mutations in the genes that code for the different subunits of the amiloride-sensitive epithelial sodium channel (ENaC) might result in cystic fibrosis (CF)-like disease. In a small fraction of the patients, the disease could
Autor:
Felix Votava, Vladimír Gregor, Dana Zemkova, Věra Vávrová, P. Kracmar, Lucie Gonsorcikova, Jan Lebl, T. Piskackova, Pavel Dřevínek, Milan Macek, Veronika Skalická, J. Camajova, A. Holubová, Miroslava Balascakova
Publikováno v:
Journal of Cystic Fibrosis. 8:224-227
The objective need for cystic fibrosis (CF) newborn screening (NBS) in the Czech Republic has recently been substantiated by a significant delay of its symptomatic diagnosis. This trend most likely resulted from the process of decentralisation of hea
Autor:
Renata Gaillyová, A. Holubová, Hana Vinohradská, T. Piskackova, Veronika Krulisova, Iveta Valášková, Felix Votava, Milan Macek, Miroslava Balascakova, Veronika Skalická
Publikováno v:
Journal of Cystic Fibrosis. 13
Objectives: This study reviews parental views on how they were informed of the probable CF diagnosis, following neonatal screening, and explores which method parent’s found most acceptable. Methods: Retrospective questionnaires were used to find pa