Banghova K - Search Results

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

Obermannova B, Banghova K, Sumník Z, Dvorakova HM, Betka J, Fencl F, Kolouskova S, Cinek O, Lebl J. Obermannova B, et al. Among authors: banghova k. Eur J Pediatr. 2009 May;168(5):569-73. doi: 10.1007/s00431-008-0794-y. Epub 2008 Aug 27. Eur J Pediatr. 2009. PMID: 18751724

Pendred syndrome among patients with congenital hypothyroidism detected by neonatal screening: identification of two novel PDS/SLC26A4 mutations.

Banghova K, Al Taji E, Cinek O, Novotna D, Pourova R, Zapletalova J, Hnikova O, Lebl J. Banghova K, et al. Eur J Pediatr. 2008 Jul;167(7):777-83. doi: 10.1007/s00431-007-0588-7. Epub 2007 Sep 18. Eur J Pediatr. 2008. PMID: 17876604

Thyroidectomy in a patient with multinodular dyshormonogenetic goitre--a case of Pendred syndrome confirmed by mutations in the PDS/SLC26A4 gene.

Banghova K, Cinek O, Al Taji E, Zapletalova J, Vidura R, Lebl J. Banghova K, et al. J Pediatr Endocrinol Metab. 2008 Dec;21(12):1179-84. doi: 10.1515/jpem.2008.21.12.1179. J Pediatr Endocrinol Metab. 2008. PMID: 19189692

[Pendred syndrome among patients with hypothyroidism: genetic diagnosis, phenotypic variability and occurrence of phenocopies].

Banghová K, Al TE, Novotná D, Zapletalová J, Hníková O, Cáp J, Klabochová J, Kúseková M, Lebl J. Banghová K, et al. Cas Lek Cesk. 2008;147(12):616-22. Cas Lek Cesk. 2008. PMID: 19235486 Czech.

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