Search Results - "Stekrová, Jitka"

Autosomal dominant polycystic kidney disease in a family with mosaicism and hypomorphic allele by Reiterová, Jana, Štekrová, Jitka, Merta, Miroslav, Kotlas, Jaroslav, Elišáková, Veronika, Lněnička, Petr, Korabečná, Marie, Kohoutová, Milada, Tesař, Vladimír

“…Autosomal dominant polycystic kidney disease (ADPKD) is the most common form of inherited kidney disease that results in renal failure. ADPKD is a systemic…”
Get full text

Synchronous gastric and sebaceous cancers, a rare manifestation of MLH1-related Muir-Torre syndrome by Svec, Jiří, Schwarzová, Lucie, Janošíková, Bohumila, Stekrová, Jitka, Mandys, Václav, Kment, Milan, Vodička, Pavel

“…Muir-Torre syndrome (MTS), a rare variant of the hereditary non polyposis colorectal cancer syndrome, is an autosomal dominant genodermatosis characterised by…”
Get full text

Genotype–phenotype correlation in children with autosomal dominant polycystic kidney disease by Fencl, Filip, Janda, Jan, Bláhová, Květa, Hříbal, Zdeněk, Štekrová, Jitka, Puchmajerová, Alena, Seeman, Tomáš

“…Adults with autosomal dominant polycystic kidney disease (ADPKD) and PKD1 mutations have a more severe disease than do patients with PKD2 mutations. The aim of…”
Get full text

Novel mutations of the APC gene and genetic consequences of splicing mutations in the Czech FAP families by Schwarzová, Lucie, Štekrová, Jitka, Florianová, Martina, Novotný, Aleš, Schneiderová, Michaela, Lněnička, Petr, Kebrdlová, Věra, Kotlas, Jaroslav, Veselá, Kamila, Kohoutová, Milada

“…Familial adenomatous polyposis (FAP) is an autosomal dominant syndrome with almost 100 % risk of colorectal cancer. The typical FAP is characterized by…”
Get full text

Ambulatory blood pressure and hypertension control in children with autosomal recessive polycystic kidney disease: clinical experience from two central European tertiary centres by Seeman, Tomáš, Blažík, Radek, Fencl, Fencl, Bláhová, Květa, Obeidová, Lena, Štekrová, Jitka, Weigel, Friederike, John-Kroegel, Ulrike

“…: Arterial hypertension is a common complication in patients with autosomal recessive polycystic kidney disease (ARPKD), occurring in 33-75% of children when…”
Get full text

APC germline mutations identified in Czech patients with familial adenomatous polyposis by Kohoutová, Milada, Štekrová, Jitka, Jirásek, Václav, Kapras, Jan

“…Familial adenomatous polyposis (FAP) is an autosomal dominantly inherited predisposition to colorectal cancer, which is caused by germline mutations in the…”
Get full text

Results of targeted next-generation sequencing in children with cystic kidney diseases often change the clinical diagnosis by Obeidova, Lena, Seeman, Tomas, Fencl, Filip, Blahova, Kveta, Hojny, Jan, Elisakova, Veronika, Reiterova, Jana, Stekrova, Jitka

“…Cystic kidney diseases are a very heterogeneous group of chronic kidney diseases. The diagnosis is usually based on clinical and ultrasound characteristics and…”
Get full text

PKD2 mutations in a Czech population with autosomal dominant polycystic kidney disease by Štekrová, Jitka, Reiterová, Jana, Merta, Miroslav, Damborský, Jirt, Židovská, Jana, Kebrdlová, Vera, Kohoutová, Milada

“…Background. Autosomal dominant polycystic kidney disease (ADPKD) is genetically heterogeneous and caused by mutations in at least three different loci. Based…”
Get full text

Detection of SHOX gene aberrations in routine diagnostic practice and evaluation of phenotype scoring form effectiveness by Hirschfeldova, Katerina, Florianova, Martina, Kebrdlova, Vera, Urbanova, Marketa, Stekrova, Jitka

“…Heterozygous aberrations of SHOX gene have been reported to be responsible for Léri-Weill dyschondrosteosis (LWD) and small portion of idiopathic short…”
Get full text

Analysis of published PKD1 gene sequence variants by Ravine, David, Gout, Alexander M

Get full text

Hereditary Renal Hypouricemia Type 1 and Autosomal Dominant Polycystic Kidney Disease by Stiburkova, Blanka, PhD, Stekrova, Jitka, MSc, Nakamura, Makiko, PhD, Ichida, Kimiyoshi, MD, PhD

“…Abstract Background Renal hypouricemia (RHUC) is a heterogeneous inherited disorder characterized by impaired tubular uric acid (UA) transport with severe…”
Get full text

Mutational screening of inverted formin 2 in adult-onset focal segmental glomerulosclerosis or minimal change patients from the Czech Republic by Safarikova, Marketa, Stekrova, Jitka, Honsova, Eva, Horinova, Vera, Tesar, Vladimir, Reiterova, Jana

“…Mutations in INF2 are frequently responsible for focal segmental glomerulosclerosis (FSGS), which is a common cause of end stage renal disease (ESRD);…”
Get full text

Genetic analysis of Gitelman syndrome patients from the Czech Republic and Slovakia--three novel mutations found by Urbanová, Markéta, Reiterová, Jana, Rysavá, Romana, Stekrová, Jitka, Merta, Miroslav

“…To investigate the genetic cause of inherited hypokalemic metabolic alkalosis associated with Gitelman's syndrome, we searched for mutations in the SLC12A3…”
Get more information

Bilineal inheritance of pathogenic PKD1 and PKD2 variants in a Czech family with autosomal dominant polycystic kidney disease - a case report by Elisakova, Veronika, Merta, Miroslav, Reiterova, Jana, Baxova, Alica, Kotlas, Jaroslav, Hirschfeldova, Katerina, Obeidova, Lena, Tesar, Vladimir, Stekrova, Jitka

“…Autosomal dominant polycystic kidney disease (ADPKD) is the most common hereditary renal disorder, leading to end stage renal failure and kidney…”
Get full text

Influence of the endothelial nitric oxide synthase polymorphism on the progression of autosomal dominant polycystic kidney disease and IgA nephropathy by Merta, Miroslav, Reiterová, Jana, Tesar, Vladimir, Stekrová, Jitka, Viklický, Ondrej

“…The reason of variability of clinical course and progression to end-stage renal failure (ESRF) of two widespread chronic nephropathies-autosomal dominant…”
Get more information

Influence of the endothelial nitric oxide synthase polymorphism on the progression of autosomal dominant polycystic kidney disease and IgA nephropathy by Merta, Miroslav, Reiterová, Jana, Tesar, Vladimír, Stekrová, Jitka, Viklický, Ondrej

“…The reason of variability of clinical course and progression to end-stage renal failure (ESRF) of two widespread chronic nephropathies--autosomal dominant…”
Get more information

Endothelial nitric oxide synthase affects the progression of autosomal dominant polycystic kidney disease by Reiterová, Jana, Merta, Miroslav, Tesar, Vladimir, Stekrová, Jitka

“…The phenotypic variability of autosomal dominant polycystic kidney disease (ADPKD) cannot be explained only by various mutations of two known genes (PKD1 and…”
Get more information

Novel APC mutations in Czech and Slovak FAP families: clinical and genetic aspects by Stekrova, Jitka, Sulova, Martina, Kebrdlova, Vera, Zidkova, Katerina, Kotlas, Jaroslav, Ilencikova, Denisa, Vesela, Kamila, Kohoutova, Milada

“…Germline mutations in the adenomatous polyposis gene (APC) result in familial adenomatous polyposis (FAP). FAP is an autosomal dominantly inherited disorder…”
Get full text

New mutations in the PKD1 gene in Czech population with autosomal dominant polycystic kidney disease by Stekrova, Jitka, Reiterova, Jana, Svobodova, Stanislava, Kebrdlova, Vera, Lnenicka, Petr, Merta, Miroslav, Viklicky, Ondrej, Kohoutova, Milada

“…Autosomal dominant polycystic kidney disease (ADPKD) is the most common hereditary renal disease. The disease is caused by mutations of the PKD1 (affecting…”
Get full text

Improvement of Diagnostic Yield by an Additional Amplicon Module to Hybridization-Based Next-Generation Sequencing Panels by Obeidova, Lena, Urbanova, Marketa, Stekrova, Jitka, Elisakova, Veronika, Hirschfeldova, Katerina

“…Many approaches aimed at improving next-generation sequencing output for clinical purposes exist. However, sequencing gaps or misalignments for regions that…”
Get full text