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

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