F. Fencl

发表

Severe complication of COVID-19 in children: Paediatric inflammatory multisystem syndrome

J. David, M. Šibíková, J. Jonáš, 2021 .

Homozygous EXOSC3 Mutation c.92G→C, p.G31A is a Founder Mutation Causing Severe Pontocerebellar Hypoplasia Type 1 Among the Czech Roma

P. Hedvičáková, P. Seeman, J. Zamecnik, 2013, Journal of neurogenetics.

Blood pressure in children with renal cysts and diabetes syndrome

T. Seeman, V. Grote, B. Lange-Sperandio, 2021, European Journal of Pediatrics.

Rhabdomyolysis in children

J. David, M. Šibíková, F. Fencl, 2020 .

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

T. Seeman, M. Konrad, K. Schlingmann, 2012, European Journal of Pediatrics.

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

T. Seeman, M. Malina, J. Zieg, 2011, European Journal of Pediatrics.

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

O. Hradsky, J. Zieg, K. Bláhová, 2018, European Journal of Pediatrics.

A novel heterozygous RIT1 mutation in a patient with Noonan syndrome, leukopenia, and transient myeloproliferation—a review of the literature

A. Křepelová, M. Suková, F. Fencl, 2016, European Journal of Pediatrics.

Unusually severe phenotype of neonatal primary hyperparathyroidism due to a heterozygous inactivating mutation in the CASR gene

J. Betka, O. Cinek, Z. Šumník, 2009, European Journal of Pediatrics.

Alteration in DNA-binding affinity of Wilms tumor 1 protein due to WT1 genetic variants associated with steroid - resistant nephrotic syndrome in children

T. Seeman, M. Rumlová, I. Křížová, 2022, Scientific Reports.

B cells, BAFF and interferons in MIS-C

O. Hrusak, A. Šedivá, J. Fremuth, 2022, medRxiv.

McCune Albright syndrome and bilateral adrenal hyperplasia: the GNAS mutation may only be present in adrenal tissue

F. Faucz, C. Stratakis, Z. Šumník, 2015, Hormones.

Nationwide observational study of paediatric inflammatory multisystem syndrome temporally associated with SARS-CoV-2 (PIMS-TS) in the Czech Republic

P. Jabandžiev, M. Huml, J. Lebl, 2022, European Journal of Pediatrics.

Anti-Inflammatory Effect of Lupinus Angustifolius Protein Hydrolysate

J. Martínez, A. Calle-Pascual, M. Cuesta, 2017 .

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

S. Pruhova, J. Lebl, Z. Straňák, 2018, Pediatric endocrinology reviews : PER.

Paediatric Home Parenteral Nutrition in the Czech Republic and Its Development: Multicentre Retrospective Study 1995-2011

E. Karaskova, J. Bronský, O. Pozler, 2017, Annals of Nutrition and Metabolism.

Novel SAMD9 Mutation in a Patient With Immunodeficiency, Neutropenia, Impaired Anti-CMV Response, and Severe Gastrointestinal Involvement

T. Kalina, M. Vlková, E. Mejstrikova, 2019, Front. Immunol..

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

J. Reiterová, J. Štekrová, T. Seeman, 2020, PloS one.

Recurrence of nephrotic proteinuria in children with focal segmental glomerulosclerosis: early treatment with plasmapheresis and immunoadsorption should be associated with better prognosis.

T. Seeman, J. Dušek, J. Hacek, 2016, Minerva pediatrica.

Recurrence of nephrotic proteinuria in children with focal segmental glomerulosclerosis after renal transplantation treated with plasmapheresis and immunoadsorption: case reports.

T. Seeman, J. Janda, J. Stejskal, 2007, Transplantation proceedings.

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

T. Seeman, B. Lange-Sperandio, R. Klaus, 2022, Pediatric Nephrology.

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

J. Štekrová, T. Seeman, J. Janda, 2009, Pediatric Nephrology.

COVID-19-Associated Paediatric Inflammatory Multisystem Syndrome (PIMS-TS) in Intensive Care: A Retrospective Cohort Trial (PIMS-TS INT)

M. Kratochvíl, J. Klučka, T. Vymazal, 2023, Children.

Epidemiological and clinical characteristics of paediatric inflammatory multisystem syndrome temporally associated with SARS-CoV-2 (PIMS-TS) in the Czech Republic

P. Jabandžiev, M. Huml, J. Lebl, 2022, Česko-slovenská pediatrie.

[Metatropic dysplasia as the cause of atlantoaxial instability, spinal stenosis and myelopathy: case report and literature review].

J. Štulík, F. Fencl, M. Barna, 2012, Acta chirurgiae orthopaedicae et traumatologiae Cechoslovaca.

Sudden cardiac arrest in a child with Gitelman syndrome: a case report and literature review

Miroslava Balaščáková, J. Zieg, P. Kubuš, 2023, Frontiers in Pediatrics.

Nationwide observational study of paediatric inflammatory multisystem syndrome temporally associated with SARS-CoV-2 (PIMS-TS) in the Czech Republic

P. Jabandžiev, M. Huml, J. Lebl, 2022, European Journal of Pediatrics.

B cell phenotype and serum levels of interferons, BAFF, and APRIL in multisystem inflammatory syndrome in children associated with COVID-19 (MIS-C)

O. Hrusak, F. Fencl, Z. Parackova, 2023, Molecular and Cellular Pediatrics.

Clinical characteristics of patients with a severe course of acute SARS-CoV-2 infection hospitalised in the Department of Paediatrics, University Hospital Motol

P. Pohunek, Š. Pešková, F. Fencl, 2022, Česko-slovenská pediatrie.