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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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Increasing prevalence of hypertension during long-term follow-up in children with autosomal dominant polycystic kidney disease

Pediatric nephrology (Berlin, West), 2021-11, Vol.36 (11), p.3717-3723

2021

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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

2022

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Kidney concentrating capacity in children with autosomal recessive polycystic kidney disease is linked to glomerular filtration and hypertension

Pediatric nephrology (Berlin, West), 2023-07, Vol.38 (7), p.2093-2100

2023

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Blood pressure in children with renal cysts and diabetes syndrome

European journal of pediatrics, 2021-12, Vol.180 (12), p.3599-3603

2021

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Attack of the clones: whole genome-based characterization of two closely related enterohemorrhagic Escherichia coli O26 epidemic lineages

BMC genomics, 2018-08, Vol.19 (1), p.647-12, Article 647

2018

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Ophthalmological Aspects of Pierson Syndrome

American journal of ophthalmology, 2008-10, Vol.146 (4), p.602-611.e1

2008

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Discordant expression of a new WT1 gene mutation in a family with monozygotic twins presenting with congenital nephrotic syndrome

European journal of pediatrics, 2012, Vol.171 (1), p.121-124

2012

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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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Fatal case of diarrhea-associated hemolytic uremic syndrome with severe neurologic involvement

Pediatrics international, 2012-02, Vol.54 (1), p.166-167

2012

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Complement activation is associated with more severe course of diarrhea-associated hemolytic uremic syndrome, a preliminary study

European journal of pediatrics, 2018-12, Vol.177 (12), p.1837-1844

2018

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Ambulatory blood pressure monitoring in children with unilateral multicystic dysplastic kidney

European journal of pediatrics, 2001-02, Vol.160 (2), p.78-83

2001

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Enterohemorrhagic Escherichia coli as causes of hemolytic uremic syndrome in the Czech Republic

PloS one, 2013-09, Vol.8 (9), p.e73927-e73927

2013

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Long-term follow-up of Czech children with D+ hemolytic-uremic syndrome

Pediatric nephrology (Berlin, West), 2002-06, Vol.17 (6), p.400-403

2002

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Various phenotypes of disease associated with mutated DGKE gene

European journal of medical genetics, 2020-08, Vol.63 (8), p.103953-103953, Article 103953

2020

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Cattle Can Be a Reservoir of Sorbitol-Fermenting Shiga Toxin-Producing Escherichia coli O157:H−Strains and a Source of Human Diseases

Journal of Clinical Microbiology, 2000-09, Vol.38 (9), p.3470-3473

2000

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Severe hypercalcemic crisis in an infant with idiopathic infantile hypercalcemia caused by mutation in CYP24A1 gene

European journal of pediatrics, 2013, Vol.172 (1), p.45-49

2013

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Urinary transforming growth factor-β1 in children with obstructive uropathy

Nephrology (Carlton, Vic.), 2011-08, Vol.16 (6), p.595-598

2011

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Enterohemorrhagic Escherichia coli as Causes of Hemolytic Uremic Syndrome in the Czech Republic: e73927

PloS one, 2013-09, Vol.8 (9)

2013

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Polycystic kidney and hepatic disease with mental retardation and hand anomalies in three siblings

Pediatric nephrology (Berlin, West), 2009-07, Vol.24 (7), p.1409-1412

2009

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Incidence and severity of pertussis hospitalisations in infants aged less than 1 year in 37 hospitals of six EU/EEA countries, results of PERTINENT sentinel pilot surveillance system, December 2015 to December 2018

Euro surveillance : bulletin européen sur les maladies transmissibles, 2021-01, Vol.26 (4), p.1

2021

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Ophthalmological Aspects of Pierson Syndrome

American journal of ophthalmology, 2008, Vol.146 (4), p.602-611

2008

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For Debate: The Significance of Etiologic Diagnosis in Neonates with Overgrowth Syndromes. Lesson Learned from the Simpson-Golabi-Behmel Syndrome

Pediatric endocrinology reviews : PER, 2018-09, Vol.16 (1), p.171

2018

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

Increasing prevalence of hypertension during long-term follow-up in children with autosomal dominant polycystic kidney disease

Ambulatory blood pressure and hypertension control in children with autosomal recessive polycystic kidney disease: clinical experience from two central European tertiary centres

Kidney concentrating capacity in children with autosomal recessive polycystic kidney disease is linked to glomerular filtration and hypertension

Blood pressure in children with renal cysts and diabetes syndrome

Attack of the clones: whole genome-based characterization of two closely related enterohemorrhagic Escherichia coli O26 epidemic lineages

Ophthalmological Aspects of Pierson Syndrome

Discordant expression of a new WT1 gene mutation in a family with monozygotic twins presenting with congenital nephrotic syndrome

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

Fatal case of diarrhea-associated hemolytic uremic syndrome with severe neurologic involvement

Complement activation is associated with more severe course of diarrhea-associated hemolytic uremic syndrome, a preliminary study

Ambulatory blood pressure monitoring in children with unilateral multicystic dysplastic kidney

Enterohemorrhagic Escherichia coli as causes of hemolytic uremic syndrome in the Czech Republic

Long-term follow-up of Czech children with D+ hemolytic-uremic syndrome

Mutations in the human laminin β2 (LAMB2) gene and the associated phenotypic spectrum

Various phenotypes of disease associated with mutated DGKE gene

Cattle Can Be a Reservoir of Sorbitol-Fermenting Shiga Toxin-Producing Escherichia coli O157:H−Strains and a Source of Human Diseases

Severe hypercalcemic crisis in an infant with idiopathic infantile hypercalcemia caused by mutation in CYP24A1 gene

Urinary transforming growth factor-β1 in children with obstructive uropathy

Enterohemorrhagic Escherichia coli as Causes of Hemolytic Uremic Syndrome in the Czech Republic: e73927

Polycystic kidney and hepatic disease with mental retardation and hand anomalies in three siblings

Mutations in the human laminin Delta b2 (LAMB2) gene and the associated phenotypic spectrum

Incidence and severity of pertussis hospitalisations in infants aged less than 1 year in 37 hospitals of six EU/EEA countries, results of PERTINENT sentinel pilot surveillance system, December 2015 to December 2018

Ophthalmological Aspects of Pierson Syndrome

For Debate: The Significance of Etiologic Diagnosis in Neonates with Overgrowth Syndromes. Lesson Learned from the Simpson-Golabi-Behmel Syndrome

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