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Monozygotic twins with 17q21.31 microdeletion syndrome.
Vlckova M, Hancarova M, Drabova J, Slamova Z, Koudova M, Alanova R, Mannik K, Kurg A, Sedlacek Z. Vlckova M, et al. Among authors: koudova m. Twin Res Hum Genet. 2014 Oct;17(5):405-10. doi: 10.1017/thg.2014.29. Epub 2014 Jun 9. Twin Res Hum Genet. 2014. PMID: 24909117
Distribution of CFTR mutations in the Czech population: positive impact of integrated clinical and laboratory expertise, detection of novel/de novo alleles and relevance for related/derived populations.
Křenková P, Piskáčková T, Holubová A, Balaščaková M, Krulišová V, Čamajová J, Turnovec M, Libik M, Norambuena P, Štambergová A, Dvořáková L, Skalická V, Bartošová J, Kučerová T, Fila L, Zemková D, Vávrová V, Koudová M, Macek M, Krebsová A, Macek M Jr. Křenková P, et al. Among authors: koudova m. J Cyst Fibros. 2013 Sep;12(5):532-7. doi: 10.1016/j.jcf.2012.12.002. Epub 2012 Dec 29. J Cyst Fibros. 2013. PMID: 23276700 Free article.
Re: ERCC3, a new ovarian cancer susceptibility gene?
Soukupova J, Zemankova P, Nehasil P, Kleibl Z; CZECANCA consortium. Soukupova J, et al. Eur J Cancer. 2021 Jun;150:278-280. doi: 10.1016/j.ejca.2021.03.014. Epub 2021 Apr 21. Eur J Cancer. 2021. PMID: 33895055 No abstract available.
[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.
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
24 results