Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Petra Dušátková"'
Autor:
Lukas Plachy, Petra Dusatkova, Klara Maratova, Shenali Anne Amaratunga, Dana Zemkova, Vit Neuman, Stanislava Kolouskova, Barbora Obermannova, Marta Snajderova, Zdenek Sumnik, Jan Lebl, Stepanka Pruhova
Publikováno v:
Endocrine Connections, Vol 13, Iss 10, Pp 1-8 (2024)
Because the causes of combined pituitary hormone deficiency (CPHD) are complex, the etiology of congenital CPHD remains unknown in most cases. The aim of the study was to identify the genetic etiology of CPHD in a well-defined single-center cohort. I
Externí odkaz:
https://doaj.org/article/bd019d5695e14abdacc13ff0b6d850ca
Autor:
Lukas Plachy, Petra Dusatkova, Shenali Anne Amaratunga, Vit Neuman, Zdenek Sumnik, Jan Lebl, Stepanka Pruhova
Publikováno v:
Frontiers in Endocrinology, Vol 15 (2024)
Genetic factors play a crucial role in determining human height. Short stature commonly affects multiple family members and therefore, familial short stature (FSS) represents a significant proportion of growth disorders. Traditionally, FSS was consid
Externí odkaz:
https://doaj.org/article/a3d88176f9114e86a3347c1a655ae627
Autor:
Lukas Plachy, Lenka Petruzelkova, Petra Dusatkova, Klara Maratova, Dana Zemkova, Lenka Elblova, Vit Neuman, Stanislava Kolouskova, Barbora Obermannova, Marta Snajderova, Zdenek Sumnik, Jan Lebl, Stepanka Pruhova
Publikováno v:
Endocrine Connections, Vol 12, Iss 10, Pp 1-8 (2023)
Familial short stature (FSS) describes vertically transmitted growth disorders. Traditionally, polygenic inheritance is presumed, but monogenic inheritance seems to occur more frequently than expected. Clinical predictors of monogenic FSS have not be
Externí odkaz:
https://doaj.org/article/078154ffc4e1414d9ee692c4d3a535ef
Autor:
Lukas Plachy, Shenali Anne Amaratunga, Petra Dusatkova, Klara Maratova, Vit Neuman, Lenka Petruzelkova, Dana Zemkova, Barbora Obermannova, Marta Snajderova, Stanislava Kolouskova, Zdenek Sumnik, Jan Lebl, Stepanka Pruhova
Publikováno v:
Frontiers in Endocrinology, Vol 13 (2023)
IntroductionThe growth hormone deficiency (GHD) diagnosis is controversial especially due to low specificity of growth hormone (GH) stimulation tests. It is therefore believed that children diagnosed with GHD form a heterogeneous group with growth di
Externí odkaz:
https://doaj.org/article/ba3c63a9753a4b61bcbbac47c87a7498
Publikováno v:
Czecho-Slovak Pediatrics / Česko-Slovenská Pediatrie. 2024, Vol. 79 Issue 3, p161-166. 6p.
Autor:
Ledjona Toni, Lukáš Plachý, Shenali Anne Amaratunga, Petra Dušátková, Aneta Kodytková, Stanislava Koloušková, Štěpánka Průhová, Jan Lebl
Publikováno v:
Česko-slovenská pediatrie. 77:206-213
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5273797b957d534380ba5184d7203d0a
https://doi.org/10.55095/cspediatrie2022/033
https://doi.org/10.55095/cspediatrie2022/033
Autor:
Ledjona, Toni, Lukáš, Plachý, Shenali, Amaratunga Anne, Petra, Dušátková, Aneta, Kodytková, Stanislava, Koloušková, Štěpánka, Průhová, Jan, Lebl
Publikováno v:
Czecho-Slovak Pediatrics / Česko-Slovenská Pediatrie; 2022, Vol. 77 Issue 4, p206-213, 8p
Autor:
Jan, Lebl, Stanislava, Koloušková, Petra, Dušátková, Ondřej, Cinek, Lenka, Dušátková, Tomáš, Dědič, Radana, Kotalová, Zdeněk, Sumník, Tomáš, Seeman, Stěpánka, Průhová
Publikováno v:
Vnitrni lekarstvi. 60(9)
The renal cysts and diabetes syndrome (RCAD), also known as HNF1B-MODYor MODY5, is caused by the deletion or point mutation of HNF1B gene which leads to the depletion of HNF1B transcription factor. The main clinical components of RCAD include cystic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::097268deedd202af9a67a97f21017d0c
https://pubmed.ncbi.nlm.nih.gov/25294760
https://pubmed.ncbi.nlm.nih.gov/25294760
Autor:
Alena Spirkova, Petra Dusatkova, Monika Peckova, Stanislava Kolouskova, Marta Snajderova, Barbora Obermannova, Katerina Stechova, Tamara Hrachovinova, Jiri Mares, Ondrej Cinek, Jan Lebl, Zdenek Sumnik, Stepanka Pruhova
Publikováno v:
International Journal of Endocrinology, Vol 2015 (2015)
Type 1 diabetes (T1D) in children and adolescents is relatively often accompanied by other immunopathological diseases, autoimmune thyroid disease (AITD) or celiac disease (CD). Our aim was to assess whether these conditions are associated with chang
Externí odkaz:
https://doaj.org/article/164cc26baa324869878b3eb1d36d2b7c
Autor:
Stepanka Pruhova, Petra Dusatkova, Pavel J. Kraml, Michal Kulich, Zdena Prochazkova, Jan Broz, Jaroslav Zikmund, Ondrej Cinek, Michal Andel, Oluf Pedersen, Torben Hansen, Jan Lebl
Publikováno v:
International Journal of Endocrinology, Vol 2013 (2013)
Aim. GCK-MODY is an autosomal dominant form of diabetes caused by heterozygous mutations in the glucokinase gene leading to a lifelong mild hyperglycemia. The risk of macrovascular complications is considered low, but studies are limited. We, therefo
Externí odkaz:
https://doaj.org/article/6e64715ebc0d4de5a9a37b9e9200fbca