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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

Journal of hypertension, 2022-03, Vol.40 (3), p.425-431

2022

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

PloS one, 2020-06, Vol.15 (6), p.e0235071-e0235071

2020

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Detection of SHOX gene aberrations in routine diagnostic practice and evaluation of phenotype scoring form effectiveness

Journal of human genetics, 2017-02, Vol.62 (2), p.253-257

2017

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Hereditary Renal Hypouricemia Type 1 and Autosomal Dominant Polycystic Kidney Disease

The American journal of the medical sciences, 2015-10, Vol.350 (4), p.268-271

2015

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SP015NEW TECHNOLOGIES IN DNA ANALYSIS OF POLYCYSTIC KIDNEY DISEASES

Nephrology, dialysis, transplantation, 2017-05, Vol.32 (suppl_3), p.iii107-iii107

2017

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

BMC medical genetics, 2018-08, Vol.19 (1), p.147-147, Article 147

2018

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SP032THE MUTATIONAL ANALYSIS OF THE INF2 GENE IN CZECH PATIENTS WITH FSGS AND MCD

Nephrology, dialysis, transplantation, 2015-05, Vol.30 (suppl_3), p.iii391-iii391

2015

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

BMC nephrology, 2013-03, Vol.14 (1), p.59-59, Article 59

2013

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Synchronous gastric and sebaceous cancers, a rare manifestation of MLH1-related Muir-Torre syndrome

International journal of clinical and experimental pathology, 2014-01, Vol.7 (8), p.5196-5202

2014

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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

BMC nephrology, 2018-07, Vol.19 (1), p.163-163, Article 163

2018

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Genotype–phenotype correlation in children with autosomal dominant polycystic kidney disease

Pediatric nephrology (Berlin, West), 2009-05, Vol.24 (5), p.983-989

2009

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

Familial cancer, 2013-03, Vol.12 (1), p.35-42

2013

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Improvement of Diagnostic Yield by an Additional Amplicon Module to Hybridization-Based Next-Generation Sequencing Panels

The Journal of molecular diagnostics : JMD, 2022-08, Vol.24 (8), p.844-855

2022

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

Nephrology, dialysis, transplantation, 2004-05, Vol.19 (5), p.1116-1122

2004

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Gitelman´s syndrome as common cause of hypokalemia and hypomagnesemia

Vnitřní lékar̆stvĭ, 2016, Vol.62 Suppl 6, p.78-83

2016

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APC germline mutations identified in Czech patients with familial adenomatous polyposis

Human mutation, 2002-04, Vol.19 (4), p.460-461

2002

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

BMC medical genetics, 2007-04, Vol.8 (1), p.16-16, Article 16

2007

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

BMC medical genetics, 2009-08, Vol.10 (1), p.78-78, Article 78

2009

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MP037THE ROLE OF DNA ANALYSIS IN DIAGNOSIS OF AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY DISEASE

Nephrology, dialysis, transplantation, 2016-05, Vol.31 (suppl_1), p.i355-i355

2016

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Analysis of published PKD1 gene sequence variants

Nature genetics, 2007-04, Vol.39 (4), p.427-428

2007

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Genetic Analysis of Gitelman Syndrome Patients from the Czech Republic and Slovakia – Three Novel Mutations Found

Kidney & blood pressure research, 2006-01, Vol.29 (6), p.360-365

2006

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

BMC medical genetics, 2015-12, Vol.16 (1), p.116-116, Article 116

2015

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

BMC medical genetics, 2014-04, Vol.15 (1), p.41-41, Article 41

2014

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SP875MOLECULAR GENETIC ANALYSIS IN FAMILIES WITH AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY DISEASE

Nephrology, dialysis, transplantation, 2015-05, Vol.30 (suppl_3), p.iii665-iii666

2015

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INFLUENCE OF THE ENDOTHELIAL NITRIC OXIDE SYNTHASE POLYMORPHISM ON THE PROGRESSION OF AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY DISEASE AND IgA NEPHROPATHY

Renal failure, 2002-01, Vol.24 (4), p.467-475

2002

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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

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

Detection of SHOX gene aberrations in routine diagnostic practice and evaluation of phenotype scoring form effectiveness

Hereditary Renal Hypouricemia Type 1 and Autosomal Dominant Polycystic Kidney Disease

SP015NEW TECHNOLOGIES IN DNA ANALYSIS OF POLYCYSTIC KIDNEY DISEASES

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

SP032THE MUTATIONAL ANALYSIS OF THE INF2 GENE IN CZECH PATIENTS WITH FSGS AND MCD

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

Synchronous gastric and sebaceous cancers, a rare manifestation of MLH1-related Muir-Torre syndrome

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

Genotype–phenotype correlation in children with autosomal dominant polycystic kidney disease

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

Improvement of Diagnostic Yield by an Additional Amplicon Module to Hybridization-Based Next-Generation Sequencing Panels

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

Gitelman´s syndrome as common cause of hypokalemia and hypomagnesemia

APC germline mutations identified in Czech patients with familial adenomatous polyposis

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

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

MP037THE ROLE OF DNA ANALYSIS IN DIAGNOSIS OF AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY DISEASE

Analysis of published PKD1 gene sequence variants

Genetic Analysis of Gitelman Syndrome Patients from the Czech Republic and Slovakia – Three Novel Mutations Found

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

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

SP875MOLECULAR GENETIC ANALYSIS IN FAMILIES WITH AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY DISEASE

INFLUENCE OF THE ENDOTHELIAL NITRIC OXIDE SYNTHASE POLYMORPHISM ON THE PROGRESSION OF AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY DISEASE AND IgA NEPHROPATHY

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