Search Results - "Obeidova, Lena"

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…”
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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…”
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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…”
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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…”
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MP037THE ROLE OF DNA ANALYSIS IN DIAGNOSIS OF AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY DISEASE by Obeidova, Lena, Elisakova, Veronika, Seeman, Tomas, Reiterova, Jana, Stekrova, Jitka

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Heterozygous Variants in NEK8 Kinase Domain Cause an Autosomal-Dominant Ciliopathy: PO1246 by Claus, Laura R., Stallworth, Jennifer, van Jaarsveld, Richard H., Louie, Raymond, Silver, Josh, Lerner-Ellis, Jordan, Morel, Chantal F., Mighton, Chloe, Ziegler, Alban, Barakat, Tahsin Stefan, Dahan, Karin, Demoulin, Nathalie, Goffin, Eric, Larsen, Martin J., Hertz, Jens Michael, Lilien, Marc, Olinger, Eric G., Sayer, John A., Obeidova, Lena, Seeman, Tomas, Rogers, Richard C., Duran, Karen J., van Haaften, Gijs W., Steet, Richard, van Eerde, Albertien M.

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Molecular genetic analysis of PKHD1 by next-generation sequencing in Czech families with autosomal recessive polycystic kidney disease by Obeidova, Lena, Seeman, Tomas, Elisakova, Veronika, Reiterova, Jana, Puchmajerova, Alena, Stekrova, Jitka

“…Autosomal recessive polycystic kidney disease (ARPKD) is an early-onset form of polycystic kidney disease that often leads to devastating outcomes for…”
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Novel mutations of PKD genes in the Czech population with autosomal dominant polycystic kidney disease by Obeidova, Lena, Elisakova, Veronika, Stekrova, Jitka, Reiterova, Jana, Merta, Miroslav, Tesar, Vladimir, Losan, Frantisek, Kohoutova, Milada

“…Autosomal dominant polycystic kidney disease (ADPKD) is the most common hereditary renal disorder caused by mutation in either one of two genes, PKD1 and PKD2…”
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SP875MOLECULAR GENETIC ANALYSIS IN FAMILIES WITH AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY DISEASE by Obeidova, Lena, Stekrova, Jitka, Elisakova, Veronika, Seeman, Tomas, Reiterova, Jana, Tesar, Vladimir

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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

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SP015NEW TECHNOLOGIES IN DNA ANALYSIS OF POLYCYSTIC KIDNEY DISEASES by Reiterová, Jana, Obeidová, Lena, Elišáková, Veronika, Seeman, Tomáš, Štekrová, Jitka

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FC044: Heterozygous Variants in Kinase Domain of NEK8 cause an Autosomal-Dominant Ciliopathy by Claus, Laura, Stallworth, Jennifer, van Jaarsveld, Richard, Turner, Joshu, Hawks, Alexandra, May, Melanie, Flanagan-Steet, Heather, Louie, Raymond, Silver, Josh, Lerner-Ellise, Jordan, Morel, Chantal, Mighton, Chloe, Ziegler, Alban, Barakat, Stefan, Dahan, Karin, Demoulin, Nathalie, Jean Goffin, Eric, Larsen, Martin, Michael Hertz, Jens, Lilien, Marc, Olinger, Eric, Sayer, John, Obeidová, Lena, Seeman, Tomas, Senum, Sarah, Hanna, Christian, Rogers, Curtis, Duran, Karen, Peters, Edith, Harris, Peter, Mason, Jennifer, van Haaften, Gijs, M. Van Eerde, Albertien, Steet, Richard

“…Abstract BACKGROUND AND AIMS NEK8/NPHP9 encodes a protein that localizes to the primary cilium. Biallelic NEK8 variants are known to cause multiorgan…”
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