Publikace v roce 2009

Články v impaktovaných časopisech

  1. Zivna, M., H. Hulkova, M. Matignon, K. Hodanova, P. Vylet'al, M. Kalbacova, V. Baresova, J. Sikora, H. Blazkova, J. Zivny, R. Ivanek, V. Stranecky, J. Sovova, K. Claes, E. Lerut, J.P. Fryns, P.S. Hart, T.C. Hart, J.N. Adams, A. Pawtowski, M. Clemessy, J.M. Gasc, M.C. Gubler, C. Antignac, M. Elleder, K. Kapp, P. Grimbert, A.J. Bleyer, and S. Kmoch. Dominant renin gene mutations associated with early-onset hyperuricemia, anemia, and chronic kidney failure. Am J Hum Genet, 2009. 85(2): p. 204-13. IF 10,153

  2. Kousi, M., E. Siintola, L. Dvorakova, H. Vlaskova, J. Turnbull, M. Topcu, D. Yuksel, S. Gokben, B.A. Minassian, M. Elleder, S.E. Mole, and A.E. Lehesjoki. Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis. Brain, 2009. 132(Pt 3): p. 810-9. IF 9,603

  3. Hofer, D., K. Paul, K. Fantur, M. Beck, F. Burger, C. Caillaud, K. Fumic, J. Ledvinova, A. Lugowska, H. Michelakakis, B. Radeva, U. Ramaswami, B. Plecko, and E. Paschke. GM1 gangliosidosis and Morquio B disease: expression analysis of missense mutations affecting the catalytic site of acid beta-galactosidase. Hum Mutat, 2009. 30(8): p. 1214-21. IF 7,033

  4. Feldhammer, M., S. Durand, L. Mrazova, R.M. Boucher, R. Laframboise, R. Steinfeld, J.E. Wraith, H. Michelakakis, O.P. van Diggelen, M. Hrebicek, S. Kmoch, and A.V. Pshezhetsky. Sanfilippo syndrome type C: mutation spectrum in the heparan sulfate acetyl-CoA: alpha-glucosaminide N-acetyltransferase (HGSNAT) gene. Hum Mutat, 2009. 30(6): p. 918-25. IF 7,033

  5. Pytlik, R., D. Stehlik, T. Soukup, M. Kalbacova, F. Rypacek, T. Trc, K. Mulinkova, P. Michnova, L. Kideryova, J. Zivny, P. Klener, Jr., R. Vesela, M. Trneny, and P. Klener. The cultivation of human multipotent mesenchymal stromal cells in clinical grade medium for bone tissue engineering. Biomaterials, 2009. 30(20): p. 3415-27. IF 6,646

  6. Stiburek, L., K. Vesela, H. Hansikova, H. Hulkova, and J. Zeman. Loss of function of Sco1 and its interaction with cytochrome c oxidase. Am J Physiol Cell Physiol, 2009. 296(5): p. C1218-26. IF 4,230

  7. Janosik, M., J. Sokolova, B. Janosikova, J. Krijt, V. Klatovska, and V. Kozich. Birth prevalence of homocystinuria in Central Europe: frequency and pathogenicity of mutation c.1105C>T (p.R369C) in the cystathionine beta-synthase gene. J Pediatr, 2009. 154(3): p. 431-7. IF 4,122

  8. Kalbacova, M., B. Rezek, V. Baresova, C. Wolf-Brandstetter, and A. Kromka. Nanoscale topography of nanocrystalline diamonds promotes differentiation of osteoblasts. Acta Biomater, 2009. IF 3,727

  9. Hulkova, H., J. Ledvinova, H. Poupetova, A. Kohout, V. Malinova, and M. Elleder. Autopsy case of Gaucher disease type I in a patient on enzyme replacement therapy. Comments on the dynamics of persistent storage process. J Inherit Metab Dis, 2009;32(4):551-559. IF 2,691

  10.  Kraus, J.P., J. Hasek, V. Kozich, R. Collard, S. Venezia, B. Janosikova, J. Wang, S.P. Stabler, R.H. Allen, C. Jakobs, C.T. Finn, Y.H. Chien, W.L. Hwu, R.A. Hegele, and S.H. Mudd. Cystathionine gamma-lyase: Clinical, metabolic, genetic, and structural studies. Mol Genet Metab, 2009. 97(4): p. 250-9. IF 2,629

  11. Sabourdy, F., H. Michelakakis, A. Anastasakis, V. Garcia, I. Mavridou, M. Nieto, M.C. Pons, C. Skiadas, M. Moraitou, P. Manta, M. Elleder, and T. Levade. Danon disease: further clinical and molecular heterogeneity. Muscle Nerve, 2009. 39(6): p. 837-44. IF 2,594

  12. Merjava, S., A. Neuwirth, V. Mandys, and K. Jirsova. Cytokeratins 8 and 18 in adult human corneal endothelium. Experimental Eye Research, 2009. 89(3): p. 426-431. IF 2,579

  13. Merjava, S., P. Liskova, Y. Sado, P.F. Davis, N.S. Greenhill, and K. Jirsova. Changes in the localization of collagens IV and VIII in corneas obtained from patients with posterior polymorphous corneal dystrophy. Experimental Eye Research, 2009. 88(5): p. 945-952. IF 2,579

  14. Vazna, A., C. Beesley, L. Berna, L. Stolnaja, H. Myskova, M. Bouckova, H. Vlaskova, H. Poupetova, J. Zeman, M. Magner, A. Hlavata, B. Winchester, M. Hrebicek, and L. Dvorakova. Mucopolysaccharidosis type I in 21 Czech and Slovak patients: mutation analysis suggests a functional importance of C-terminus of the IDUA protein. Am J Med Genet A, 2009. 149A(5): p. 965-74. IF 2,555

  15. Kuchar, L., J. Ledvinova, M. Hrebicek, H. Myskova, L. Dvorakova, L. Berna, P. Chrastina, B. Asfaw, M. Elleder, M. Petermoller, H. Mayrhofer, M. Staudt, I. Krageloh-Mann, B.C. Paton, and K. Harzer. Prosaposin deficiency and saposin B deficiency (activator-deficient metachromatic leukodystrophy): report on two patients detected by analysis of urinary sphingolipids and carrying novel PSAP gene mutations. Am J Med Genet A, 2009. 149A(4): p. 613-21. IF 2,555

  16. Krijt, J., A. Duta, and V. Kozich. Determination of S-Adenosylmethionine and S-Adenosylhomocysteine by LC-MS/MS and evaluation of their stability in mice tissues. J Chromatogr B Analyt Technol Biomed Life Sci, 2009. 877(22): p. 2061-6. IF 2,500

  17.  Brejchova, K., P. Liskova, E. Hrdlickova, M. Filipec, and K. Jirsova. Matrix metalloproteinases in recurrent corneal melting associated with primary Sjorgen's syndrome. Molecular Vision, 2009. 15(253): p. 2364-2372. IF 2,464

  18. Cejkova, J., T. Ardan, C. Cejka, J. Malec, K. Jirsova, M. Filipec, E.R. Ickova, D. Dotielova, and B. Brunova. Ocular surface injuries in autoimmune dry eye. The severity of microscopical disturbances goes parallel with the severity of symptoms of dryness. Histology and Histopathology, 2009. 24(10): p. 1357-1365. IF 2,194

  19. Nejepinska, J., K. Juklova, and K. Jirsova. Organ culture, but not hypothermic storage, facilitates the repair of the corneal endothelium following mechanical damage. Acta Ophthalmol. 2010 Jun;88(4):413-9. IF 2,138

  20. Rezek, B., E. Ukraintsev, L. Michalikova, A. Kromka, J. Zemek, and M. Kalbacova. Adsorption of fetal bovine serum on H/O-terminated diamond studied by atomic force microscopy. Diamond and Related Materials, 2009. 18(5-8): p. 918-922. IF 2,092

  21. Kromka, A., B. Rezek, M. Kalbacova, V. Baresova, J. Zemek, C. Konak, and M. Vanecek. Diamond Seeding and Growth of Hierarchically Structured Films for Tissue Engineering. Advanced Engineering Materials, 2009. 11(7): p. B71-B76. IF 1,506

  22. Malinova, V., H. Poupetova, L. Dvorakova, and J. Zeman. Enzyme replacement therapy for Gaucher disease in twin pregnancy. Int J Gynaecol Obstet, 2009. 106(1): p. 64-6. IF 1,228

  23. Broz, A., V. Baresova, A. Kromka, B. Rezek, and M. Kalbacova. Strong influence of hierarchically structured diamond nanotopography on adhesion of human osteoblasts and mesenchymal cells. Physica Status Solidi a-Applications and Materials Science, 2009. 206(9): p. 2038-2041. IF 1,205

  24. Babchenko, O., A. Kromka, K. Hruska, M. Kalbacova, A. Broz, and M. Vanecek. Fabrication of nano-structured diamond films for SAOS-2 cell cultivation. Physica Status Solidi a-Applications and Materials Science, 2009. 206(9): p. 2033-2037. IF 1,205

  25. Kalbacova, M., A. Broz, O. Babchenko, and A. Kromka. Study on cellular adhesion of human osteoblasts on nano-structured diamond films. Physica Status Solidi B-Basic Solid State Physics, 2009. 246(11-12): p. 2774-2777. IF 1,166

  26.  Ukraintsev, E., B. Rezek, A. Kromka, A. Broz, and M. Kalbacova. Long-term adsorption of fetal bovine serum on H/O-terminated diamond studied in situ by atomic force microscopy. Physica Status Solidi B-Basic Solid State Physics, 2009. 246(11-12): p. 2832-2835. IF 1,166

  27. Michalikova, L., B. Rezek, A. Kromka, and M. Kalbacova. CVD diamond films with hydrophilic micro-patterns for self-organisation of human osteoblasts. Vacuum, 2009. 84(1): p. 61-64. IF 1,114

  28. Rezek, B., L. Michalikova, E. Ukraintsev, A. Kromka, and M. Kalbacova. Micro-Pattern Guided Adhesion of Osteoblasts on Diamond Surfaces. Sensors, 2009. 9(5): p. 3549-3562. IF 1,070

    Kapitola v encyklopedii

  29. Kostrouchova, M., Contributor - Valproic acid, in Encyclopedia of Cancer, S. Manfred Schwab, Editor, 2nd ed., Springer-Verlag Berlin Heidelberg New York 2009, p. 3137 – 3140.