Zobrazeno 1 - 10
of 15
pro vyhledávání: '"Tamara Svobodová"'
Publikováno v:
International Journal of Endocrinology, Vol 2013 (2013)
Primary ciliary dyskinesia (PCD) leads to recurrent/chronic respiratory infections, resulting in chronic inflammation and potentially in chronic pulmonary disease with bronchiectasis. We analyzed longitudinal data on body length/height and body mass
Externí odkaz:
https://doaj.org/article/d0d9b868852f484b8ce42335bda86369
Early-onset pulmonary and cutaneous vasculitis driven by constitutively active SRC-family kinase HCK
Autor:
Jan Lebl, Eva Fronkova, Petr Novák, Tomas Brdicka, Marcela Dvorakova, Min Ae Lee-Kirsch, Jarmila Králová, Milan Macek, Ludmila Hornofova, Anna Sediva, Vendula Martinu, Jana Kayserova, Miroslav Koblizek, Michael Svaton, Petr Sedlacek, Ashleigh R Poh, Olga Zimmermannova, Ales Janda, Jana Paderova, Matthias Ernst, Tomas Kalina, Zuzana Parackova, Tamara Svobodová, Adam Klocperk, Stepanka Pruhova, Ondrej Hrusak, Veronika Kanderova, Simon Borna, Petr Pohunek, Martina Fejtkova
Background Inborn errors of immunity are genetic disorders characterized by various degrees of immune dysregulation that can manifest as immune deficiency, autoimmunity, or autoinflammation. The routine use of next-generation sequencing in the clinic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::661be0062cb1ee5200e3673fa2a750d8
Autor:
Richard Skaba, Petra Rounova, Petr Pohunek, K. Pycha, Stranák Z, Michal Rygl, Jan Sulc, Tamara Svobodová, Krystof Slaby
Publikováno v:
Biomedical Papers, Vol 159, Iss 3, Pp 497-502 (2015)
Aims: The aim of the study was to analyze lung growth and abnormality of infant pulmonary function tests (IPFT) in congenital diaphragmatic hernia (CDH) survivors younger than three years of age with respect to unfavorable prognostic factors. Methods
Autor:
Petr Pohunek, Ondřej Cinek, Juha-Pekka Pursiheimo, Lenka Dusatkova, Jana Djakow, Tamara Svobodová, J. Uhlík, Lenka Kramna
Publikováno v:
Pediatric Pulmonology. 51:498-509
Summary Background Primary ciliary dyskinesia (PCD) is a multigenic autosomal recessive condition affecting respiratory tract and other organs where ciliary motility is required. The extent of its genetic heterogeneity is remarkable. The aim of the s
Autor:
Petr Pohunek, Tamara Svobodová
Publikováno v:
Clinical Pulmonary Medicine. 22:128-132
Publikováno v:
Pediatric Pulmonology. 47:864-875
Introduction Primary ciliary dyskinesia (PCD) is a rare genetically heterogenous condition. Mutations in DNAH5 or DNAI1 genes can be found in about a third of the patients with PCD. Increased occurrence of mutations was described in several exons of
Autor:
Jana, Djakow, Lenka, Kramná, Lenka, Dušátková, Jiří, Uhlík, Juha-Pekka, Pursiheimo, Tamara, Svobodová, Petr, Pohunek, Ondřej, Cinek
Publikováno v:
Pediatric pulmonology. 51(5)
Primary ciliary dyskinesia (PCD) is a multigenic autosomal recessive condition affecting respiratory tract and other organs where ciliary motility is required. The extent of its genetic heterogeneity is remarkable. The aim of the study was to develop
Publikováno v:
International Journal of Endocrinology
International Journal of Endocrinology, Vol 2013 (2013)
International Journal of Endocrinology, Vol 2013 (2013)
Primary ciliary dyskinesia (PCD) leads to recurrent/chronic respiratory infections, resulting in chronic inflammation and potentially in chronic pulmonary disease with bronchiectasis. We analyzed longitudinal data on body length/height and body mass
Autor:
Tamara Svobodová, Petr Pohunek
Publikováno v:
Paediatric Respiratory Medicine
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b894d4b590ea31c6e4f6484ff67d8f90
https://doi.org/10.1183/9781849840392.029712
https://doi.org/10.1183/9781849840392.029712
Publikováno v:
Pediatric pulmonology. 47(9)
Primary ciliary dyskinesia (PCD) is a rare genetically heterogenous condition. Mutations in DNAH5 or DNAI1 genes can be found in about a third of the patients with PCD. Increased occurrence of mutations was described in several exons of these long ge