Karolina Banghova

Summary

Publications

  1. ncbi request reprint Thyroidectomy in a patient with multinodular dyshormonogenetic goitre--a case of Pendred syndrome confirmed by mutations in the PDS/SLC26A4 gene
    Karolina Banghova
    Department ofPaediatrics, Second Faculty of Medicine, Charles University in Prague, Prague, Czech Republic
    J Pediatr Endocrinol Metab 21:1179-84. 2008
  2. ncbi request reprint [Pendred syndrome among patients with hypothyroidism: genetic diagnosis, phenotypic variability and occurrence of phenocopies]
    K Banghova
    Pediatrick√° klinika UK 2 LF a FN Motol, Praha
    Cas Lek Cesk 147:616-22. 2008
  3. ncbi request reprint Pendred syndrome among patients with congenital hypothyroidism detected by neonatal screening: identification of two novel PDS/SLC26A4 mutations
    Karolina Banghova
    Department of Paediatrics, Second Faculty of Medicine, Charles University in Prague, Prague, Czech Republic
    Eur J Pediatr 167:777-83. 2008
  4. doi request reprint Unusually severe phenotype of neonatal primary hyperparathyroidism due to a heterozygous inactivating mutation in the CASR gene
    Barbora Obermannova
    Department of Paediatrics, Second Faculty of Medicine, Charles University in Prague, Prague, Czech Republic
    Eur J Pediatr 168:569-73. 2009

Detail Information

Publications4

  1. ncbi request reprint Thyroidectomy in a patient with multinodular dyshormonogenetic goitre--a case of Pendred syndrome confirmed by mutations in the PDS/SLC26A4 gene
    Karolina Banghova
    Department ofPaediatrics, Second Faculty of Medicine, Charles University in Prague, Prague, Czech Republic
    J Pediatr Endocrinol Metab 21:1179-84. 2008
    ....
  2. ncbi request reprint [Pendred syndrome among patients with hypothyroidism: genetic diagnosis, phenotypic variability and occurrence of phenocopies]
    K Banghova
    Pediatrick√° klinika UK 2 LF a FN Motol, Praha
    Cas Lek Cesk 147:616-22. 2008
    ..The study was aimed to identify patients with Pendred syndrome among children with congenital or postnatal non-autoimmune hypothyroidism and subsequently confirm the diagnosis by finding mutations in the PDS/SLC26A4 gene...
  3. ncbi request reprint Pendred syndrome among patients with congenital hypothyroidism detected by neonatal screening: identification of two novel PDS/SLC26A4 mutations
    Karolina Banghova
    Department of Paediatrics, Second Faculty of Medicine, Charles University in Prague, Prague, Czech Republic
    Eur J Pediatr 167:777-83. 2008
    ..In conclusion, our results indicate the rarity of Pendred syndrome as a cause of CH. The identification of two novel mutations expands the spectrum of mutations in the PDS/SLC26A4 gene and emphasizes their marked allelic heterogeneity...
  4. doi request reprint Unusually severe phenotype of neonatal primary hyperparathyroidism due to a heterozygous inactivating mutation in the CASR gene
    Barbora Obermannova
    Department of Paediatrics, Second Faculty of Medicine, Charles University in Prague, Prague, Czech Republic
    Eur J Pediatr 168:569-73. 2009
    ....