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Page 1
A degradation-sensitive anionic trypsinogen (PRSS2) variant protects against chronic pancreatitis.
Witt H, Sahin-Tóth M, Landt O, Chen JM, Kähne T, Drenth JP, Kukor Z, Szepessy E, Halangk W, Dahm S, Rohde K, Schulz HU, Le Maréchal C, Akar N, Ammann RW, Truninger K, Bargetzi M, Bhatia E, Castellani C, Cavestro GM, Cerny M, Destro-Bisol G, Spedini G, Eiberg H, Jansen JB, Koudova M, Rausova E, Macek M Jr, Malats N, Real FX, Menzel HJ, Moral P, Galavotti R, Pignatti PF, Rickards O, Spicak J, Zarnescu NO, Böck W, Gress TM, Friess H, Ockenga J, Schmidt H, Pfützer R, Löhr M, Simon P, Weiss FU, Lerch MM, Teich N, Keim V, Berg T, Wiedenmann B, Luck W, Groneberg DA, Becker M, Keil T, Kage A, Bernardova J, Braun M, Güldner C, Halangk J, Rosendahl J, Witt U, Treiber M, Nickel R, Férec C. Witt H, et al. Among authors: koudova m. Nat Genet. 2006 Jun;38(6):668-73. doi: 10.1038/ng1797. Epub 2006 May 14. Nat Genet. 2006. PMID: 16699518 Free PMC article.
Keratin 8 sequence variants in patients with pancreatitis and pancreatic cancer.
Treiber M, Schulz HU, Landt O, Drenth JP, Castellani C, Real FX, Akar N, Ammann RW, Bargetzi M, Bhatia E, Demaine AG, Battagia C, Kingsnorth A, O'Reilly D, Truninger K, Koudova M, Spicak J, Cerny M, Menzel HJ, Moral P, Pignatti PF, Romanelli MG, Rickards O, De Stefano GF, Zarnescu NO, Choudhuri G, Sikora SS, Jansen JB, Weiss FU, Pietschmann M, Teich N, Gress TM, Ockenga J, Schmidt H, Kage A, Halangk J, Rosendahl J, Groneberg DA, Nickel R, Witt H. Treiber M, et al. Among authors: koudova m. J Mol Med (Berl). 2006 Dec;84(12):1015-22. doi: 10.1007/s00109-006-0096-7. Epub 2006 Oct 13. J Mol Med (Berl). 2006. PMID: 17039343 Free article.
Common CFTR haplotypes and susceptibility to chronic pancreatitis and congenital bilateral absence of the vas deferens.
Steiner B, Rosendahl J, Witt H, Teich N, Keim V, Schulz HU, Pfützer R, Löhr M, Gress TM, Nickel R, Landt O, Koudova M, Macek M Jr, Farre A, Casals T, Desax MC, Gallati S, Gomez-Lira M, Audrezet MP, Férec C, des Georges M, Claustres M, Truninger K. Steiner B, et al. Among authors: koudova m. Hum Mutat. 2011 Aug;32(8):912-20. doi: 10.1002/humu.21511. Epub 2011 Jun 7. Hum Mutat. 2011. PMID: 21520337
Polymorphisms of UDP-glucuronosyltransferase 1A7 are not involved in pancreatic diseases.
Verlaan M, Drenth JP, Truninger K, Koudova M, Schulz HU, Bargetzi M, Künzli B, Friess H, Cerny M, Kage A, Landt O, te Morsche RH, Rosendahl J, Luck W, Nickel R, Halangk J, Becker M, Macek M Jr, Jansen JB, Witt H. Verlaan M, et al. Among authors: koudova m. J Med Genet. 2005 Oct;42(10):e62. doi: 10.1136/jmg.2005.032599. J Med Genet. 2005. PMID: 16199544 Free PMC article.
[Hereditary pancreatitis].
Koudová M, Kotalová R, Spicák J, Macek M Jr. Koudová M, et al. Klin Onkol. 2009;22 Suppl:S54-5. Klin Onkol. 2009. PMID: 19764398 Review. Czech. No abstract available.
Haplotype block structure study of the CFTR gene. Most variants are associated with the M470 allele in several European populations.
Pompei F, Ciminelli BM, Bombieri C, Ciccacci C, Koudova M, Giorgi S, Belpinati F, Begnini A, Cerny M, Des Georges M, Claustres M, Ferec C, Macek M Jr, Modiano G, Pignatti PF. Pompei F, et al. Among authors: koudova m. Eur J Hum Genet. 2006 Jan;14(1):85-93. doi: 10.1038/sj.ejhg.5201498. Eur J Hum Genet. 2006. PMID: 16251901
Variation in a repeat sequence determines whether a common variant of the cystic fibrosis transmembrane conductance regulator gene is pathogenic or benign.
Groman JD, Hefferon TW, Casals T, Bassas L, Estivill X, Des Georges M, Guittard C, Koudova M, Fallin MD, Nemeth K, Fekete G, Kadasi L, Friedman K, Schwarz M, Bombieri C, Pignatti PF, Kanavakis E, Tzetis M, Schwartz M, Novelli G, D'Apice MR, Sobczynska-Tomaszewska A, Bal J, Stuhrmann M, Macek M Jr, Claustres M, Cutting GR. Groman JD, et al. Among authors: koudova m. Am J Hum Genet. 2004 Jan;74(1):176-9. doi: 10.1086/381001. Epub 2003 Dec 18. Am J Hum Genet. 2004. PMID: 14685937 Free PMC article.
[Medical genetics in reproductive medicine].
Macek M, Vilímová S, Potuzníková P, Yurov Y, Vorsanova S, Diblík J, Krebsová A, Machatková M, Koudová M, Alánová R, Matĕjcková M, Hladíková E, Broucková M, Hüttelová R, Vincenciová R, Paulasová P, Brandjeská M, Uhrová E, Kratĕnová A, Smetanová I, Novotná D, Chudoba D, Kulovaný E, Krutílková V, Hromadníková I, Mardesic T, Macek M Jr. Macek M, et al. Among authors: koudova m. Cas Lek Cesk. 2002;141(1):28-34. Cas Lek Cesk. 2002. PMID: 11899543 Czech.
Characterization of a novel 21-kb deletion, CFTRdele2,3(21 kb), in the CFTR gene: a cystic fibrosis mutation of Slavic origin common in Central and East Europe.
Dörk T, Macek M Jr, Mekus F, Tümmler B, Tzountzouris J, Casals T, Krebsová A, Koudová M, Sakmaryová I, Macek M Sr, Vávrová V, Zemková D, Ginter E, Petrova NV, Ivaschenko T, Baranov V, Witt M, Pogorzelski A, Bal J, Zékanowsky C, Wagner K, Stuhrmann M, Bauer I, Seydewitz HH, Neumann T, Jakubiczka S. Dörk T, et al. Among authors: koudova m. Hum Genet. 2000 Mar;106(3):259-68. doi: 10.1007/s004390000246. Hum Genet. 2000. PMID: 10798353
[Cystic fibrosis--a disease of adolescents and adults?].
Vávrová V, Zemková D, Bartosová J, Zapletal A, Smolíková L, Krebsová A, Koudová M, Macek M Jr. Vávrová V, et al. Among authors: koudova m. Cas Lek Cesk. 1999 Nov 1;138(21):654-9. Cas Lek Cesk. 1999. PMID: 10746022 Czech.
24 results