Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Eva Zapletalová"'
Publikováno v:
Analytica Chimica Acta. 716:155-162
Microbial strains are now spreading out of their original geographical areas of incidence and previously adequate morphological identification methods often must be accompanied by a phenotypic characterization for the successful microbial identificat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c81a944b1d8134e11c1575862644f97d
https://doi.org/10.1016/j.aca.2011.12.032
https://doi.org/10.1016/j.aca.2011.12.032
Publikováno v:
Analytical and Bioanalytical Chemistry. 400:3133-3140
Trace analysis of microorganisms in real biological samples needs very sensitive methods for their detection. Most procedures for detecting and quantifying pathogens require a sample preparation step including concentrating microorganisms from large
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9efd110d680c085388e63c78e4ee0b3d
https://doi.org/10.1007/s00216-011-4975-6
https://doi.org/10.1007/s00216-011-4975-6
Autor:
Karel Veselý, Renata Gaillyová, Kamila Réblová, Markéta Hermanová, Lenka Fajkusová, Lenka Kopečková, Romana Borská, Kristýna Stehlíková, Z. Nagy, Hana Nosková, Eva Zapletalová, Ondřej Horký, Jitka Němečková, Blanka Pinková, Hana Bučková
Publikováno v:
British Journal of Dermatology
Autosomal recessive congenital ichthyosis (ARCI) represents a heterogeneous group of disorders of epidermal cornification. Nine genes have been identified to be causative of ARCI, including TGM1 1,2 , ABCA12 3 , NIPAL4 4 , CYP4F22 5 , ALOX12B, ALOXE3
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::09052856810850574179011e9b893ff7
https://pubmed.ncbi.nlm.nih.gov/25998749
https://pubmed.ncbi.nlm.nih.gov/25998749
Autor:
Renata Gaillyová, Lenka Fajkusová, Petra Hedvicakova, Věra Juttnerová, Jiří Fajkus, Eva Zapletalová, Libor Kozák, Zdeněk Kalina, Tat’ána Mařı´ková, Petr Vondráček
Publikováno v:
Neuromuscular disorders : NMD. 17(6)
Spinal muscular atrophy (SMA) is caused by homozygous deletion of the SMN1 gene in approximately 96% of cases. Four percent of SMA patients have a combination of the deletion or conversion on one allele and an intragenic mutation on the second one. W
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e68206722ec6241a76f1bc4cd792d144
https://pubmed.ncbi.nlm.nih.gov/17475491
https://pubmed.ncbi.nlm.nih.gov/17475491
Autor:
Jiří Fajkus, Markéta Hermanová, Josef Zamecnik, Petr Vondráček, Tat’ána Maříková, Stanislav Voháňka, Kristýna Stehlíková, Radim Mazanec, Jana Sedláčková, Lenka Fajkusová, Eva Zapletalová
Publikováno v:
Neuromuscular disorders : NMD. 17(2)
Limb girdle muscular dystrophy type 2A (LGMD2A) is caused by single or small nucleotide changes widespread along the CAPN3 gene, which encodes the muscle-specific proteolytic enzyme calpain-3. About 356 unique allelic variants of CAPN3 have been iden
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::336891fd69483a4a90cc19532d8c0b25
https://pubmed.ncbi.nlm.nih.gov/17157502
https://pubmed.ncbi.nlm.nih.gov/17157502
Autor:
Petr Vondráček, Lenka Fajkusová, Markéta Hermanová, Josef Zamecnik, Eva Zapletalová, Jana Sedláčková
Publikováno v:
Neuromuscular Disorders. 21:642
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::543b0fbae7d2eeb3937a5001fc43ec0c
https://doi.org/10.1016/j.nmd.2011.06.763
https://doi.org/10.1016/j.nmd.2011.06.763
Publikováno v:
Neuromuscular Disorders. 17:779
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f0299fd0833f4f8e108928965acbded5
https://doi.org/10.1016/j.nmd.2007.06.065
https://doi.org/10.1016/j.nmd.2007.06.065
Publikováno v:
Neuromuscular Disorders. 16:652
The work is concerned with results of determination of SMN2 gene copy-number; correlation of SMN2 copy-number/clinical stage; corelation of SMN2 copy number/ full-length SMN2 mRNA level; and monitoring PBA and VA treatment in case of 25 SMA patients.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6523b8d1b6c10094132c6442ef9b3012
https://doi.org/10.1016/j.nmd.2006.05.041
https://doi.org/10.1016/j.nmd.2006.05.041