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Page 1
Inherited ichthyoses: molecular causes of the disease in Czech patients.
Borská R, Pinková B, Réblová K, Bučková H, Kopečková L, Němečková J, Puchmajerová A, Malíková M, Hermanová M, Fajkusová L. Borská R, et al. Among authors: pinkova b. Orphanet J Rare Dis. 2019 May 2;14(1):92. doi: 10.1186/s13023-019-1076-7. Orphanet J Rare Dis. 2019. PMID: 31046801 Free PMC article.
Autosomal recessive congenital ichthyoses in the Czech Republic.
Bučková H, Nosková H, Borská R, Réblová K, Pinková B, Zapletalová E, Kopečková L, Horký O, Němečková J, Gaillyová R, Nagy Z, Veselý K, Hermanová M, Stehlíková K, Fajkusová L. Bučková H, et al. Among authors: pinkova b. Br J Dermatol. 2016 Feb;174(2):405-7. doi: 10.1111/bjd.13918. Epub 2015 Nov 14. Br J Dermatol. 2016. PMID: 25998749 No abstract available.
Types of congenital nonsyndromic ichthyoses.
Pinkova B, Buckova H, Borska R, Fajkusova L. Pinkova B, et al. Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub. 2020 Dec;164(4):357-365. doi: 10.5507/bp.2020.050. Epub 2020 Oct 21. Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub. 2020. PMID: 33087941 Free article. Review.
Targeted treatment of severe vascular malformations harboring PIK3CA and TEK mutations with alpelisib is highly effective with limited toxicity.
Sterba M, Pokorna P, Faberova R, Pinkova B, Skotakova J, Seehofnerova A, Blatny J, Janigova L, Koskova O, Palova H, Mahdal M, Pazourek L, Jabandziev P, Slaby O, Mudry P, Sterba J. Sterba M, et al. Among authors: pinkova b. Sci Rep. 2023 Jun 28;13(1):10499. doi: 10.1038/s41598-023-37468-4. Sci Rep. 2023. PMID: 37380669 Free PMC article.
Diagnostic efficacy and clinical utility of whole-exome sequencing in Czech pediatric patients with rare and undiagnosed diseases.
Slaba K, Pokorna P, Jugas R, Palova H, Prochazkova D, Aulicka S, Spanelova K, Danhofer P, Horak O, Tuckova J, Kleiblova P, Gaillyova R, Hrunka M, Jouza M, Pinkova B, Papez J, Konecna P, Zidkova J, Stourac P, Sterba J, Demlova R, Demlova E, Jabandziev P, Slaby O. Slaba K, et al. Among authors: pinkova b. Sci Rep. 2024 Nov 20;14(1):28780. doi: 10.1038/s41598-024-79872-4. Sci Rep. 2024. PMID: 39567597 Free PMC article.
A novel rapamycin cream formulation improves facial angiofibromas associated with tuberous sclerosis complex: a double-blind randomized placebo-controlled trial.
Aitken P, Stanescu I, Boddington L, Mahon C, Fogarasi A, Liao YH, Ivars M, Moreno-Artero E, Trauner D, DeRoos ST, Jancic J, Nikolic M, Balážová P, Price HN, Hadzsiev K, Riney K, Stapleton S, Tollefson MM, Bauer D, Pinková B, Atkinson H. Aitken P, et al. Among authors: pinkova b. Br J Dermatol. 2023 Oct 25;189(5):520-530. doi: 10.1093/bjd/ljad243. Br J Dermatol. 2023. PMID: 37463422 Clinical Trial.