Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Blanka Pinkova"'
Autor:
Romana Borská, Blanka Pinková, Kamila Réblová, Hana Bučková, Lenka Kopečková, Jitka Němečková, Alena Puchmajerová, Marcela Malíková, Markéta Hermanová, Lenka Fajkusová
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-5 (2019)
Abstract Inherited ichthyoses belong to a large and heterogeneous group of mendelian disorders of cornification, and can be distinguished by the quality and distribution of scaling and hyperkeratosis, by other dermatologic and extracutaneous involvem
Externí odkaz:
https://doaj.org/article/43bc9ac616384e6fadfac80169ee5993
Autor:
Katerina Slaba, Petra Pokorna, Robin Jugas, Hana Palova, Dagmar Prochazkova, Stefania Aulicka, Klara Spanelova, Pavlina Danhofer, Ondrej Horak, Jana Tuckova, Petra Kleiblova, Renata Gaillyova, Matej Hrunka, Martin Jouza, Blanka Pinkova, Jan Papez, Petra Konecna, Jana Zidkova, Petr Stourac, Jaroslav Sterba, Regina Demlova, Eva Demlova, Petr Jabandziev, Ondrej Slaby
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-11 (2024)
Abstract In the last decade, undiagnosed disease programs have emerged to address the significant number of individuals with suspected but undiagnosed rare genetic diseases. In our single-center study, we have launched a pilot program for pediatric p
Externí odkaz:
https://doaj.org/article/5632c7178ab1493c9496854f9b2ecf9d
Autor:
Martin Sterba, Petra Pokorna, Renata Faberova, Blanka Pinkova, Jarmila Skotakova, Anna Seehofnerova, Jan Blatny, Lucia Janigova, Olga Koskova, Hana Palova, Michal Mahdal, Lukas Pazourek, Petr Jabandziev, Ondrej Slaby, Peter Mudry, Jaroslav Sterba
Publikováno v:
Scientific Reports, Vol 13, Iss 1, Pp 1-9 (2023)
Abstract This was a prospective cohort study of eighteen patients with large and debilitating vascular malformations with one or more major systemic complications. In all patients, we discovered activating alterations in either TEK or PIK3CA. Based o
Externí odkaz:
https://doaj.org/article/a577de5101bc4a5b9cfe353e1382fac2
Publikováno v:
Biomedical Papers, Vol 164, Iss 4, Pp 357-365 (2020)
Congenital ichthyoses are a very heterogeneous group of diseases manifested by dry, rough and scaling skin. In all forms of ichthyoses, the skin barrier is damaged to a certain degree. Congenital ichthyoses are caused by various gene mutations. Clini
Externí odkaz:
https://doaj.org/article/7fa64350f8b04136a7aa3025760df136
Autor:
Pinkova B; Children's Dermatological Department of the Paediatric Clinic, Faculty of Medicine, Masaryk University and University Hospital Brno, Czech Republic., Buckova H; Children's Dermatological Department of the Paediatric Clinic, Faculty of Medicine, Masaryk University and University Hospital Brno, Czech Republic., Borska R; Center of Molecular Biology and Gene Therapy IHOK University Hospital Brno and Faculty of Medicine, Masaryk University, Brno, Czech Republic Corresponding author: Blanka Pinkova, e-mail., Fajkusova L; Center of Molecular Biology and Gene Therapy IHOK University Hospital Brno and Faculty of Medicine, Masaryk University, Brno, Czech Republic Corresponding author: Blanka Pinkova, e-mail.
Publikováno v:
Biomedical papers of the Medical Faculty of the University Palacky, Olomouc, Czechoslovakia [Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub] 2020 Dec; Vol. 164 (4), pp. 357-365. Date of Electronic Publication: 2020 Oct 21.