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Items: 26

1.

Successful rituximab treatment of granulomatous/lymphocytic interstitial lung disease in common variable immunodeficiency.

Králíčková P, Kubcová Š, Kočová E, Bartoš V, Souček O, Rozsíval P, Vaníček H, Krčmová I, Ravčuková B, Grombiříková H, Freiberger T.

Epidemiol Mikrobiol Imunol. 2018 Winter;67(3):142-148.

PMID:
30602282
2.

Lymphoproliferation, immunodeficiency and early-onset inflammatory bowel disease associated with a novel mutation in Caspase 8.

Kanderova V, Grombirikova H, Zentsova I, Reblova K, Klocperk A, Fejtkova M, Bloomfield M, Ravcukova B, Kalina T, Freiberger T, Sediva A.

Haematologica. 2019 Jan;104(1):e32-e34. doi: 10.3324/haematol.2018.201673. Epub 2018 Oct 18. No abstract available.

3.

Complex analysis of the TP53 tumor suppressor in mantle cell and diffuse large B-cell lymphomas.

Zlamalikova L, Moulis M, Ravcukova B, Liskova K, Malcikova J, Salek D, Jarkovsky J, Svitakova M, Hrabalkova R, Smarda J, Smardova J.

Oncol Rep. 2017 Oct;38(4):2535-2542. doi: 10.3892/or.2017.5891. Epub 2017 Aug 8.

PMID:
28791403
4.

Systematic analysis of splicing defects in selected primary immunodeficiencies-related genes.

Grodecká L, Hujová P, Kramárek M, Kršjaková T, Kováčová T, Vondrášková K, Ravčuková B, Hrnčířová K, Souček P, Freiberger T.

Clin Immunol. 2017 Jul;180:33-44. doi: 10.1016/j.clim.2017.03.010. Epub 2017 Mar 27.

PMID:
28359783
5.

Role of Flow Cytometry in the Diagnosis of Chronic Granulomatous Disease: the Egyptian Experience.

El Hawary R, Meshaal S, Deswarte C, Galal N, Abdelkawy M, Alkady R, Elaziz DA, Freiberger T, Ravcukova B, Litzman J, Bustamante J, Boutros J, Gaafar T, Elmarsafy A.

J Clin Immunol. 2016 Aug;36(6):610-8. doi: 10.1007/s10875-016-0297-y. Epub 2016 May 24.

PMID:
27222152
6.

Complex analysis of the p53 tumor suppressor in lung carcinoma.

Smardova J, Liskova K, Ravcukova B, Malcikova J, Hausnerova J, Svitakova M, Hrabalkova R, Zlamalikova L, Stano-Kozubik K, Blahakova I, Speldova J, Jarkovsky J, Smarda J.

Oncol Rep. 2016 Mar;35(3):1859-67. doi: 10.3892/or.2015.4533. Epub 2015 Dec 29.

PMID:
26718964
7.

No major effect of the CDH1 c.2440-6C>G mutation on splicing detected in last exon-specific splicing minigene assay.

Grodecká L, Kramárek M, Lockerová P, Kováčová T, Ravčuková B, Richterová R, Kyselová K, Augste E, Freiberger T.

Genes Chromosomes Cancer. 2014 Sep;53(9):798-801. doi: 10.1002/gcc.22186. Epub 2014 May 12. No abstract available.

PMID:
24817184
8.

Exon first nucleotide mutations in splicing: evaluation of in silico prediction tools.

Grodecká L, Lockerová P, Ravčuková B, Buratti E, Baralle FE, Dušek L, Freiberger T.

PLoS One. 2014 Feb 21;9(2):e89570. doi: 10.1371/journal.pone.0089570. eCollection 2014.

9.

X-Linked agammaglobulinemia in a child with Klinefelter's syndrome.

Cochino AV, Janda A, Ravcukova B, Plaiasu V, Ochiana D, Gherghina I, Freiberger T.

J Clin Immunol. 2014 Feb;34(2):142-5. doi: 10.1007/s10875-013-9986-y. Epub 2014 Jan 30.

PMID:
24477949
10.

High frequency of temperature-sensitive mutants of p53 in glioblastoma.

Smardova J, Liskova K, Ravcukova B, Kubiczkova L, Sevcikova S, Michalek J, Svitakova M, Vybihal V, Kren L, Smarda J.

Pathol Oncol Res. 2013 Jul;19(3):421-8. doi: 10.1007/s12253-012-9596-7. Epub 2013 Mar 28.

PMID:
23536279
11.

Sequence variants of the TNFRSF13B gene in Czech CVID and IgAD patients in the context of other populations.

Freiberger T, Ravčuková B, Grodecká L, Pikulová Z, Stikarovská D, Pešák S, Kuklínek P, Jarkovský J, Salzer U, Litzman J.

Hum Immunol. 2012 Nov;73(11):1147-54. doi: 10.1016/j.humimm.2012.07.342. Epub 2012 Aug 9.

PMID:
22884984
12.

Transactivation and reactivation capabilities of temperature-dependent p53 mutants in yeast and human cells.

Jagosova J, Pitrova L, Slovackova J, Ravcukova B, Smarda J, Smardova J.

Int J Oncol. 2012 Sep;41(3):1157-63. doi: 10.3892/ijo.2012.1520. Epub 2012 Jun 15.

PMID:
22710932
13.

The molecular basis of familial hypercholesterolemia in the Czech Republic: spectrum of LDLR mutations and genotype-phenotype correlations.

Tichý L, Freiberger T, Zapletalová P, Soška V, Ravčuková B, Fajkusová L.

Atherosclerosis. 2012 Aug;223(2):401-8. doi: 10.1016/j.atherosclerosis.2012.05.014. Epub 2012 May 23.

PMID:
22698793
14.

Skin lesions in a boy with X-linked lymphoproliferative disorder: comparison of 5 SH2D1A deletion cases.

Mejstríková E, Janda A, Hrusák O, Bucková H, Vlcková M, Hancárová M, Freiberger T, Ravcuková B, Vesely K, Fajkusová L, Kopecková L, Sumerauer D, Kabícková E, Sedivá A, Stary J, Sedlácek Z.

Pediatrics. 2012 Feb;129(2):e523-8. doi: 10.1542/peds.2011-0870. Epub 2012 Jan 23.

PMID:
22271700
15.

The logarithm of the triglyceride/HDL-cholesterol ratio is related to the history of cardiovascular disease in patients with familial hypercholesterolemia.

Soška V, Jarkovský J, Ravčuková B, Tichý L, Fajkusová L, Freiberger T.

Clin Biochem. 2012 Jan;45(1-2):96-100. doi: 10.1016/j.clinbiochem.2011.11.001. Epub 2011 Nov 18.

PMID:
22119890
16.

Prognostic impact of p53 aberrations for R-CHOP-treated patients with diffuse large B-cell lymphoma.

Stefancikova L, Moulis M, Fabian P, Vasova I, Zedek F, Ravcukova B, Muzik J, Kuglik P, Vranova V, Falkova I, Hrabalkova R, Smardova J.

Int J Oncol. 2011 Dec;39(6):1413-20. doi: 10.3892/ijo.2011.1170. Epub 2011 Aug 18.

PMID:
21874232
17.

No evidence for linkage between the hereditary angiooedema clinical phenotype and the BDKR1, BDKR2, ACE or MBL2 gene.

Freiberger T, Grombiříková H, Ravčuková B, Jarkovský J, Kuklínek P, Kryštůfková O, Hanzlíková J, Daňková E, Kopecký O, Zachová R, Lahodná M, Vašáková M, Grodecká L, Litzman J.

Scand J Immunol. 2011 Jul;74(1):100-6. doi: 10.1111/j.1365-3083.2011.02547.x.

18.

An APEX-based genotyping microarray for the screening of 168 mutations associated with familial hypercholesterolemia.

Dušková L, Kopečková L, Jansová E, Tichý L, Freiberger T, Zapletalová P, Soška V, Ravčuková B, Fajkusová L.

Atherosclerosis. 2011 May;216(1):139-45. doi: 10.1016/j.atherosclerosis.2011.01.023. Epub 2011 Jan 21.

PMID:
21310417
19.

Association of FcRn expression with lung abnormalities and IVIG catabolism in patients with common variable immunodeficiency.

Freiberger T, Grodecká L, Ravcuková B, Kurecová B, Postránecká V, Vlcek J, Jarkovský J, Thon V, Litzman J.

Clin Immunol. 2010 Sep;136(3):419-25. doi: 10.1016/j.clim.2010.05.006.

PMID:
20627700
20.

No association of FCRN promoter VNTR polymorphism with the rate of maternal-fetal IgG transfer.

Freiberger T, Ravcuková B, Grodecká L, Kurecová B, Jarkovský J, Bartonková D, Thon V, Litzman J.

J Reprod Immunol. 2010 Jun;85(2):193-7. doi: 10.1016/j.jri.2010.04.002. Epub 2010 May 7.

PMID:
20452034
21.

Loss of the p53 tumor suppressor activity is associated with negative prognosis of mantle cell lymphoma.

Stefancikova L, Moulis M, Fabian P, Ravcukova B, Vasova I, Muzik J, Malcikova J, Falkova I, Slovackova J, Smardova J.

Int J Oncol. 2010 Mar;36(3):699-706.

PMID:
20126990
22.

An unusual p53 mutation detected in Burkitt's lymphoma: 30 bp duplication.

Smardova J, Grochova D, Fabian P, Moulis M, Smarda J, Falkova I, Ravcukova B, Vankova J, Vasova I.

Oncol Rep. 2008 Oct;20(4):773-8.

PMID:
18813817
23.

Analysis of transactivation capability and conformation of p53 temperature-dependent mutants and their reactivation by amifostine in yeast.

Grochova D, Vankova J, Damborsky J, Ravcukova B, Smarda J, Vojtesek B, Smardova J.

Oncogene. 2008 Feb 21;27(9):1243-52. Epub 2007 Sep 3.

PMID:
17724467
24.

Links among paroxetine-induced sexual dysfunctions, gender, and CYP2D6 activity.

Zourková A, Cesková E, Hadasová E, Ravcuková B.

J Sex Marital Ther. 2007 Jul-Sep;33(4):343-55.

PMID:
17541852
25.

Analysis of p53 status in human cell lines using a functional assay in yeast: detection of new non-sense p53 mutation in codon 124.

Smardová J, Pavlová S, Svitáková M, Grochová D, Ravcuková B.

Oncol Rep. 2005 Oct;14(4):901-7.

PMID:
16142349
26.

[Comparison of various methods of correction of QT intervals during exercise in familial long QT interval syndrome].

Sisáková M, Vlasínová J, Semrád B, Chroust K, Ravcuková B.

Vnitr Lek. 2003 Oct;49(10):799-801. Czech.

PMID:
14682152

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