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

por Obeidova, Lena, Seeman, Tomas, Elisakova, Veronika, Reiterova, Jana, Puchmajerova, Alena, Stekrova, Jitka
Publicado 2015

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

por Safarikova, Marketa, Stekrova, Jitka, Honsova, Eva, Horinova, Vera, Tesar, Vladimir, Reiterova, Jana
Publicado 2018

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

por Stekrova, Jitka, Sulova, Martina, Kebrdlova, Vera, Zidkova, Katerina, Kotlas, Jaroslav, Ilencikova, Denisa, Vesela, Kamila, Kohoutova, Milada
Publicado 2007

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

por Stekrova, Jitka, Reiterova, Jana, Svobodova, Stanislava, Kebrdlova, Vera, Lnenicka, Petr, Merta, Miroslav, Viklicky, Ondrej, Kohoutova, Milada
Publicado 2009

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

por Obeidova, Lena, Elisakova, Veronika, Stekrova, Jitka, Reiterova, Jana, Merta, Miroslav, Tesar, Vladimir, Losan, Frantisek, Kohoutova, Milada
Publicado 2014

Results of targeted next-generation sequencing in children with cystic kidney diseases often change the clinical diagnosis

por Obeidova, Lena, Seeman, Tomas, Fencl, Filip, Blahova, Kveta, Hojny, Jan, Elisakova, Veronika, Reiterova, Jana, Stekrova, Jitka
Publicado 2020

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

por Reiterová, Jana, Štekrová, Jitka, Merta, Miroslav, Kotlas, Jaroslav, Elišáková, Veronika, Lněnička, Petr, Korabečná, Marie, Kohoutová, Milada, Tesař, Vladimír
Publicado 2013

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

por Elisakova, Veronika, Merta, Miroslav, Reiterova, Jana, Baxova, Alica, Kotlas, Jaroslav, Hirschfeldova, Katerina, Obeidova, Lena, Tesar, Vladimir, Stekrova, Jitka
Publicado 2018

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

por Vouk, Katja, Strmecki, Lana, Stekrova, Jitka, Reiterova, Jana, Bidovec, Matjaz, Hudler, Petra, Kenig, Anton, Jereb, Simona, Zupanic-Pajnic, Irena, Balazic, Joze, Haarpaintner, Guido, Leskovar, Bostjan, Adamlje, Anton, Skoflic, Antun, Dovc, Reina, Hojs, Radovan, Komel, Radovan
Publicado 2006