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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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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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Autosomal Dominant Polycystic Kidney Disease: From Pathophysiology of Cystogenesis to Advances in the Treatment

International journal of molecular sciences, 2022-03, Vol.23 (6), p.3317

2022

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Current and Future Therapeutical Options in Alport Syndrome

International journal of molecular sciences, 2023-03, Vol.24 (6), p.5522

2023

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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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The coincidence of IgA nephropathy and Fabry disease

BMC nephrology, 2013-01, Vol.14 (1), p.6-6, Article 6

2013

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IgA Nephropathy in Czech Patients - Are We Able Reliably Predict the Outcome?

Kidney & blood pressure research, 2014-01, Vol.39 (6), p.555-562

2014

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Severity in polycystic liver disease is associated with aetiology and female gender: Results of the International PLD Registry

Liver international, 2019-03, Vol.39 (3), p.575-582

2019

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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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Nationwide biopsy survey of renal diseases in the Czech Republic during the years 1994–2011

Journal of nephrology, 2015-02, Vol.28 (1), p.39-49

2015

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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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Validation of pathogenic patterns in a novel cohort of patients with membranoproliferative glomerulonephritis by cluster analysis

Molecular immunology, 2018-10, Vol.102, p.153-153

2018

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The retrospective analysis of 343 Czech patients with IgA nephropathy—one centre experience

Nephrology, dialysis, transplantation, 2012-04, Vol.27 (4), p.1492-1498

2012

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

BMC medical genetics, 2006-01, Vol.7 (1), p.6-6, Article 6

2006

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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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A nationwide blood spot screening study for Fabry disease in the Czech Republic haemodialysis patient population

Nephrology, dialysis, transplantation, 2007-01, Vol.22 (1), p.179-186

2007

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Validation of distinct pathogenic patterns in a cohort of membranoproliferative glomerulonephritis patients by cluster analysis

Clinical kidney journal, 2020-04, Vol.13 (2), p.225-234

2020

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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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Unusual manifestation of AL amyloidosis—stenosis of inferior vena cava

Nephrology, dialysis, transplantation, 2006-05, Vol.21 (5), p.1430-1433

2006

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

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

Autosomal Dominant Polycystic Kidney Disease: From Pathophysiology of Cystogenesis to Advances in the Treatment

The most common founder pathogenic variant c.868G > A (p.Val290Met) in the NPHS2 gene in a representative adult Czech cohort with focal segmental glomerulosclerosis is associated with a milder disease and its underdiagnosis in childhood

Current and Future Therapeutical Options in Alport Syndrome

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

The coincidence of IgA nephropathy and Fabry disease

IgA Nephropathy in Czech Patients - Are We Able Reliably Predict the Outcome?

Severity in polycystic liver disease is associated with aetiology and female gender: Results of the International PLD Registry

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

Nationwide biopsy survey of renal diseases in the Czech Republic during the years 1994–2011

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

Validation of pathogenic patterns in a novel cohort of patients with membranoproliferative glomerulonephritis by cluster analysis

The retrospective analysis of 343 Czech patients with IgA nephropathy—one centre experience

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

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

A nationwide blood spot screening study for Fabry disease in the Czech Republic haemodialysis patient population

Validation of distinct pathogenic patterns in a cohort of membranoproliferative glomerulonephritis patients by cluster analysis

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

Unusual manifestation of AL amyloidosis—stenosis of inferior vena cava

SP015NEW TECHNOLOGIES IN DNA ANALYSIS OF POLYCYSTIC KIDNEY DISEASES

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

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