Stekrova J - Search Results

1

New mutations in the PKD1 gene in Czech population with autosomal dominant polycystic kidney disease.

Stekrova J, Reiterova J, Svobodova S, Kebrdlova V, Lnenicka P, Merta M, Viklicky O, Kohoutova M. Stekrova J, et al. BMC Med Genet. 2009 Aug 17;10:78. doi: 10.1186/1471-2350-10-78. BMC Med Genet. 2009. PMID: 19686598 Free PMC article.

2

PKD2 mutations in a Czech population with autosomal dominant polycystic kidney disease.

Stekrová J, Reiterová J, Merta M, Damborsky J, Zidovská J, Kebrdlová V, Kohoutová M. Stekrová J, et al. Nephrol Dial Transplant. 2004 May;19(5):1116-22. doi: 10.1093/ndt/gfh083. Epub 2004 Feb 19. Nephrol Dial Transplant. 2004. PMID: 14993477

3

PKD1 and PKD2 mutations in Slovenian families with autosomal dominant polycystic kidney disease.

Vouk K, Strmecki L, Stekrova J, Reiterova J, Bidovec M, Hudler P, Kenig A, Jereb S, Zupanic-Pajnic I, Balazic J, Haarpaintner G, Leskovar B, Adamlje A, Skoflic A, Dovc R, Hojs R, Komel R. Vouk K, et al. Among authors: stekrova j. BMC Med Genet. 2006 Jan 23;7:6. doi: 10.1186/1471-2350-7-6. BMC Med Genet. 2006. PMID: 16430766 Free PMC article.

4

Novel APC mutations in Czech and Slovak FAP families: clinical and genetic aspects.

Stekrova J, Sulova M, Kebrdlova V, Zidkova K, Kotlas J, Ilencikova D, Vesela K, Kohoutova M. Stekrova J, et al. BMC Med Genet. 2007 Apr 5;8:16. doi: 10.1186/1471-2350-8-16. BMC Med Genet. 2007. PMID: 17411426 Free PMC article.

5

Novel mutations of the APC gene and genetic consequences of splicing mutations in the Czech FAP families.

Schwarzová L, Štekrová J, Florianová M, Novotný A, Schneiderová M, Lněnička P, Kebrdlová V, Kotlas J, Veselá K, Kohoutová M. Schwarzová L, et al. Among authors: stekrova j. Fam Cancer. 2013 Mar;12(1):35-42. doi: 10.1007/s10689-012-9569-8. Fam Cancer. 2013. PMID: 22987206

6

Autosomal dominant polycystic kidney disease in a family with mosaicism and hypomorphic allele.

Reiterová J, Štekrová J, Merta M, Kotlas J, Elišáková V, Lněnička P, Korabečná M, Kohoutová M, Tesař V. Reiterová J, et al. Among authors: stekrova j. BMC Nephrol. 2013 Mar 15;14:59. doi: 10.1186/1471-2369-14-59. BMC Nephrol. 2013. PMID: 23496908 Free PMC article.

7

Novel mutations of PKD genes in the Czech population with autosomal dominant polycystic kidney disease.

Obeidova L, Elisakova V, Stekrova J, Reiterova J, Merta M, Tesar V, Losan F, Kohoutova M. Obeidova L, et al. Among authors: stekrova j. BMC Med Genet. 2014 Apr 3;15:41. doi: 10.1186/1471-2350-15-41. BMC Med Genet. 2014. PMID: 24694054 Free PMC article.

8

Molecular genetic analysis of PKHD1 by next-generation sequencing in Czech families with autosomal recessive polycystic kidney disease.

Obeidova L, Seeman T, Elisakova V, Reiterova J, Puchmajerova A, Stekrova J. Obeidova L, et al. Among authors: stekrova j. BMC Med Genet. 2015 Dec 22;16:116. doi: 10.1186/s12881-015-0261-3. BMC Med Genet. 2015. PMID: 26695994 Free PMC article.

9

Bilineal inheritance of pathogenic PKD1 and PKD2 variants in a Czech family with autosomal dominant polycystic kidney disease - a case report.

Elisakova V, Merta M, Reiterova J, Baxova A, Kotlas J, Hirschfeldova K, Obeidova L, Tesar V, Stekrova J. Elisakova V, et al. Among authors: stekrova j. BMC Nephrol. 2018 Jul 4;19(1):163. doi: 10.1186/s12882-018-0978-2. BMC Nephrol. 2018. PMID: 29973168 Free PMC article.

10

Mutational screening of inverted formin 2 in adult-onset focal segmental glomerulosclerosis or minimal change patients from the Czech Republic.

Safarikova M, Stekrova J, Honsova E, Horinova V, Tesar V, Reiterova J. Safarikova M, et al. Among authors: stekrova j. BMC Med Genet. 2018 Aug 20;19(1):147. doi: 10.1186/s12881-018-0667-9. BMC Med Genet. 2018. PMID: 30126379 Free PMC article.

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