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Lenka Fajkusová

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Czech Republic

Physiology

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Muscle, Skeletal

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Publications

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Kamila Réblová; Zuzana Hrubá; Renata Pazdírková; Slávka Pouchlá; Dagmar Procházková; Lenka Fajkusová
Hyperphenylalaninemia in the Czech Republic: genotype-phenotype correlations and in silico analysis of novel missense mutations.
Lenka Činčárová; Pavla Šultesová; Jirí Fajkus; Lenka Fajkusová; Hana Konečná; Gabriela Lochmanová; Kateřina Nováková; Zbynek Zdráhal
A combined approach for the study of histone deacetylase inhibitors.
Lukáš Tichý; Petra Zapletalová; Tomáš Freiberger; Barbora Ravčuková; Vladimír Soška; Lenka Fajkusová
The molecular basis of familial hypercholesterolemia in the Czech Republic: spectrum of LDLR mutations and genotype-phenotype correlations.

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All Publications

2013: Kamila Réblová; Zuzana Hrubá; Renata Pazdírková; Slávka Pouchlá; Dagmar Procházková; Lenka Fajkusová
Hyperphenylalaninemia in the Czech Republic: genotype-phenotype correlations and in silico analysis of novel missense mutations.
Clinica chimica acta; international journal of clinical chemistry 2013;419():1-10.
2012: Lenka Činčárová; Pavla Šultesová; Jirí Fajkus; Lenka Fajkusová; Hana Konečná; Gabriela Lochmanová; Kateřina Nováková; Zbynek Zdráhal
A combined approach for the study of histone deacetylase inhibitors.
Molecular bioSystems 2012;8(11):2937-45.
2012: Lukáš Tichý; Petra Zapletalová; Tomáš Freiberger; Barbora Ravčuková; Vladimír Soška; Lenka Fajkusová
The molecular basis of familial hypercholesterolemia in the Czech Republic: spectrum of LDLR mutations and genotype-phenotype correlations.
Atherosclerosis 2012;223(2):401-8.
2012: Z Lukáš; O Souček; J Zaorálková; L Štefančíková; Lenka Fajkusová; M Falk; I Falková; J Feit; E Janoušová; R Hrabálková
Sequestration of MBNL1 in tissues of patients with myotonic dystrophy type 2.
Neuromuscular disorders : NMD 2012;22(7):604-16.
2012: Ester Mejstríková; Barbora Ravcuková; Anna Sedivá; Jan Stary; David Sumerauer; Karel Vesely; Markéta Vlcková; Hana Bucková; Lenka Fajkusová; Tomás Freiberger; Miroslava Hancárová; Ondrej Hrusák; Ales Janda; E Kabícková; Lenka Kopecková; Zdenek Sedlácek
Skin lesions in a boy with X-linked lymphoproliferative disorder: comparison of 5 SH2D1A deletion cases.
Pediatrics 2012;129(2):e523-8.
2011: Lucie Dušková; Lenka Kopečková; Eva Jansová; Lukáš Tichý; Tomáš Freiberger; Petra Zapletalová; Vladimír Soška; Barbora Ravčuková; Lenka Fajkusová
An APEX-based genotyping microarray for the screening of 168 mutations associated with familial hypercholesterolemia.
Atherosclerosis 2011;216(1):139-45.
2011: Zuzana Vrzalová; Zuzana Hrubá; Eva Sťahlová Hrabincová; Slávka Vrábelová; Felix Votava; Stanislava Koloušková; Lenka Fajkusová
Chimeric CYP21A1P/CYP21A2 genes identified in Czech patients with congenital adrenal hyperplasia.
European journal of medical genetics 2011;54(2):112-7.
2010: Zuzana Vrzalová; Zuzana Hrubá; Eva St'ahlová Hrabincová; Slavka Pouchlá; Felix Votava; Stanislava Kolousková; Lenka Fajkusová
Identification of CYP21A2 mutant alleles in Czech patients with 21-hydroxylase deficiency.
International journal of molecular medicine 2010;26(4):595-603.
2010: Barbora Jerábková; Lenka Kopecková; Hana Bucková; Karel Veselý; Jana Valícková; Lenka Fajkusová
Analysis of the COL7A1 gene in Czech patients with dystrophic epidermolysis bullosa reveals novel and recurrent mutations.
Journal of dermatological science 2010;59(2):136-40.
2010: B Jerábková; J Marek; H Bucková; L Kopecková; K Veselý; J Valícková; J Fajkus; Lenka Fajkusová
Keratin mutations in patients with epidermolysis bullosa simplex: correlations between phenotype severity and disturbance of intermediate filament molecular structure.
The British journal of dermatology 2010;162(5):1004-13.
2010: Radan Goldmann; Lukás Tichý; Tomás Freiberger; Petra Zapletalová; Ondrej Letocha; Vladimír Soska; Jirí Fajkus; Lenka Fajkusová
Genomic characterization of large rearrangements of the LDLR gene in Czech patients with familial hypercholesterolemia.
BMC medical genetics 2010;11():115.
2009: Jana Sedlácková; Petr Vondrácek; Markéta Hermanová; Josef Zámecník; Zuzana Hrubá; Jana Haberlová; Josef Kraus; Tat'ána Maríková; Petra Hedvicáková; Stanislav Vohánka; Lenka Fajkusová
Point mutations in Czech DMD/BMD patients and their phenotypic outcome.
Neuromuscular disorders : NMD 2009;19(11):749-53.
2007: Eva Zapletalová; Petra Hedvicáková; Libor Kozák; Petr Vondrácek; Renata Gaillyová; Tat'ána Maríková; Zdenek Kalina; Vera Jüttnerová; Jirí Fajkus; Lenka Fajkusová
Analysis of point mutations in the SMN1 gene in SMA patients bearing a single SMN1 copy.
Neuromuscular disorders : NMD 2007;17(6):476-81.
2007: Kristýna Stehlíková; Eva Zapletalová; Jana Sedlácková; Markéta Hermanová; Petr Vondrácek; Tat'ána Maríková; Radim Mazanec; Josef Zámecník; Stanislav Vohánka; Jirí Fajkus; Lenka Fajkusová
Quantitative analysis of CAPN3 transcripts in LGMD2A patients: involvement of nonsense-mediated mRNA decay.
Neuromuscular disorders : NMD 2007;17(2):143-7.
2006: Markéta Hermanová; Eva Zapletalová; Jana Sedlácková; Tána Chrobáková; Ondrej Letocha; Iva Kroupová; Josef Zámecník; Petr Vondrácek; Radim Mazanec; Tat'ána Maríková; Stanislav Vohánka; Lenka Fajkusová
Analysis of histopathologic and molecular pathologic findings in Czech LGMD2A patients.
Muscle & nerve 2006;33(3):424-32.
2004: Tána Chrobáková; Markéta Hermanová; Iva Kroupová; Petr Vondrácek; Tat'ána Maríková; Radim Mazanec; Josef Zámecník; Jan Stanek; Miluse Havlová; Lenka Fajkusová
Mutations in Czech LGMD2A patients revealed by analysis of calpain3 mRNA and their phenotypic outcome.
Neuromuscular disorders : NMD 2004;14(10):659-65.
2004: Jan Malaska; Zuzana Kunická; M Borský; M Sklenicková; M Novotná; Lenka Fajkusová; Jan Zaloudík; Jirí Fajkus
Telomerase as a diagnostic and predictive marker in colorectal carcinoma.
Neoplasma 2004;51(2):90-6.
2002: Viera Kuhrová; Hana Francová; Petra Zapletalová; Tomás Freiberger; Lenka Fajkusová; Eva Hrabincová; Romana Slováĉková; Libor Kozák; Romana Slováková
Spectrum of low density lipoprotein receptor mutations in Czech hypercholesterolemic patients.
Human mutation 2002;19(1):80.
2001: Zdenek Lukás; M Vojtísková; Lenka Fajkusová; Josef Bednarík; Zdenek Kadanka; J Hájek; Markéta Hermanová; Stanislav Vohánka; Michal Vytopil
[Muscular dystrophies detected by immunophenotyping and genotype analysis (mRNA and DNA)].
Ceskoslovenská patologie 2001;37(4):137-45.
2001: Viera Kuhrová; Hana Francová; Petra Zapletalová; Tomás Freiberger; Lenka Fajkusová; Eva Hrabincová; R Slováková; Libor Kozák
Spectrum of low density lipoprotein receptor mutations in Czech hypercholesterolemic patients.
Human mutation 2001;18(3):253.
2001: Lenka Fajkusová; Zdenek Lukás; M Tvrdíková; Viera Kuhrová; J Hájek; Jirí Fajkus
Novel dystrophin mutations revealed by analysis of dystrophin mRNA: alternative splicing suppresses the phenotypic effect of a nonsense mutation.
Neuromuscular disorders : NMD 2001;11(2):133-8.
2000: Jan Malaska; M Sklenicková; K Krejcí; Lenka Fajkusová; M Bajer; Hana Hrstková; Jirí Fajkus
Telomerase activity and expression and telomere analysis in situ in the course of treatment of childhood leukemias.
Blood cells, molecules & diseases 2000;26(5):534-9.
2000: Lenka Fajkusová; Jirí Fajkus; K Polácková; J Fulnecek; Dana Dvoráková; E Krahulcová
Detailed mapping of methylcytosine positions at the CpG island surrounding the Pa promoter at the bcr-abl locus in CML patients and in two cell lines, K562 and BV173.
Blood cells, molecules & diseases 2000;26(3):193-204.
2000: Libor Kozák; Hana Francová; Lenka Fajkusová; A Pijácková; J Macku; S Stastná; K Peskovová; O Martincová; J Krijt; V Bzdúch
Mutation analysis of the GALT gene in Czech and Slovak galactosemia populations: identification of six novel mutations, including a stop codon mutation (X380R).
Human mutation 2000;15(2):206.
1998: Tomás Freiberger; Viera Kuhrová; Libor Kozák; V Soska; V Pekarík; L Mĕrínská; Lenka Fajkusová; Hana Francová
[Direct detection of mutations in the LDL receptor gene in patients with familial hypercholesterolemia].
Casopís lékar̆ů c̆eských 1998;137(24):750-2.
1998: Lenka Fajkusová; V Pekarík; J Hájek; Viera Kuhrová; M Blazková; Jirí Fajkus
Characterization of two nonsense mutations in the human dystrophin gene.
Journal of neurogenetics 1998;12(3):183-9.
1997: Lenka Fajkusová; Viera Kuhrová; J Hájek; Jirí Fajkus
[Detection of extensive deletions and duplications in the dystrophin gene].
Casopís lékar̆ů c̆eských 1997;136(5):148-50.
1997: Lenka Fajkusová; V Kuhrovà; J Hájek; Jirí Fajkus
Distribution of dystrophin gene deletions mapped by multiplex PCR in the Moravian population.
Molecular and cellular probes 1997;11(1):85-7.
1995: Libor Kozák; Viera Kuhrová; M Blazková; V Romano; Lenka Fajkusová; D Dvoráková; A Pijácková
Phenylketonuria mutations and their relation to RFLP haplotypes at the PAH locus in Czech PKU families.
Human genetics 1995;96(4):472-6.
1995: Libor Kozák; Viera Kuhrová; M Blazková; Lenka Fajkusová; D Dvoráková; A Pijácková
[Advances in the diagnosis of phenylketonuria with the introduction of direct detection of PAH gene mutation].
Casopís lékar̆ů c̆eských 1995;134(12):385-7.
1995: Jirí Fajkus; R Královics; Ales Kovarík; Lenka Fajkusová
The telomeric sequence is directly attached to the HRS60 subtelomeric tandem repeat in tobacco chromosomes.
FEBS letters 1995;364(1):33-5.
1993: D Dvoráková; Lenka Fajkusová
Direct analysis of R408W mutation in phenylalanine hydroxylase gene by allele-specific PCR amplification.
Human molecular genetics 1993;2(3):323.