Obermannova B - Search Results

1

Further evidence that mutations in INS can be a rare cause of Maturity-Onset Diabetes of the Young (MODY).

Boesgaard TW, Pruhova S, Andersson EA, Cinek O, Obermannova B, Lauenborg J, Damm P, Bergholdt R, Pociot F, Pisinger C, Barbetti F, Lebl J, Pedersen O, Hansen T. Boesgaard TW, et al. Among authors: obermannova b. BMC Med Genet. 2010 Mar 12;11:42. doi: 10.1186/1471-2350-11-42. BMC Med Genet. 2010. PMID: 20226046 Free PMC article.

2

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. 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

3

HNF1A mutation presenting with fetal macrosomia and hypoglycemia in childhood prior to onset of overt diabetes.

Dusatkova P, Pruhova S, Sumnik Z, Kolouskova S, Obermannova B, Cinek O, Lebl J. Dusatkova P, et al. Among authors: obermannova b. J Pediatr Endocrinol Metab. 2011;24(3-4):187-9. doi: 10.1515/jpem.2011.083. J Pediatr Endocrinol Metab. 2011. PMID: 21648289

4

HNF1A mutation presenting with fetal macrosomia and hypoglycemia in childhood prior to onset of overt diabetes.

Dusátková P, Průhová S, Sumník Z, Kolousková S, Obermannová B, Cinek O, Lebl J. Dusátková P, et al. Among authors: obermannova b. J Pediatr Endocrinol Metab. 2011;24(5-6):377-9. J Pediatr Endocrinol Metab. 2011. PMID: 21823540

5

Mutations and pituitary morphology in a series of 82 patients with PROP1 gene defects.

Obermannova B, Pfaeffle R, Zygmunt-Gorska A, Starzyk J, Verkauskiene R, Smetanina N, Bezlepkina O, Peterkova V, Frisch H, Cinek O, Child CJ, Blum WF, Lebl J. Obermannova B, et al. Horm Res Paediatr. 2011;76(5):348-54. doi: 10.1159/000332693. Epub 2011 Oct 18. Horm Res Paediatr. 2011. PMID: 22024773

6

High prevalence of PROP1 defects in Lithuania: phenotypic findings in an ethnically homogenous cohort of patients with multiple pituitary hormone deficiency.

Navardauskaite R, Dusatkova P, Obermannova B, Pfaeffle RW, Blum WF, Adukauskiene D, Smetanina N, Cinek O, Verkauskiene R, Lebl J. Navardauskaite R, et al. Among authors: obermannova b. J Clin Endocrinol Metab. 2014 Jan;99(1):299-306. doi: 10.1210/jc.2013-3090. Epub 2013 Dec 20. J Clin Endocrinol Metab. 2014. PMID: 24178788

7

Genesis of two most prevalent PROP1 gene variants causing combined pituitary hormone deficiency in 21 populations.

Dusatkova P, Pfäffle R, Brown MR, Akulevich N, Arnhold IJ, Kalina MA, Kot K, Krzisnik C, Lemos MC, Malikova J, Navardauskaite R, Obermannova B, Pribilincova Z, Sallai A, Stipancic G, Verkauskiene R, Cinek O, Blum WF, Parks JS, Austerlitz F, Lebl J. Dusatkova P, et al. Among authors: obermannova b. Eur J Hum Genet. 2016 Mar;24(3):415-20. doi: 10.1038/ejhg.2015.126. Epub 2015 Jun 10. Eur J Hum Genet. 2016. PMID: 26059845 Free PMC article.

8

Treated Autoimmune Thyroid Disease Is Associated with a Decreased Quality of Life among Young Persons with Type 1 Diabetes.

Spirkova A, Dusatkova P, Peckova M, Kolouskova S, Snajderova M, Obermannova B, Stechova K, Hrachovinova T, Mares J, Cinek O, Lebl J, Sumnik Z, Pruhova S. Spirkova A, et al. Among authors: obermannova b. Int J Endocrinol. 2015;2015:185859. doi: 10.1155/2015/185859. Epub 2015 May 18. Int J Endocrinol. 2015. PMID: 26089877 Free PMC article.

9

High Incidence of Heterozygous ABCC8 and HNF1A Mutations in Czech Patients With Congenital Hyperinsulinism.

Rozenkova K, Malikova J, Nessa A, Dusatkova L, Bjørkhaug L, Obermannova B, Dusatkova P, Kytnarova J, Aukrust I, Najmi LA, Rypackova B, Sumnik Z, Lebl J, Njølstad PR, Hussain K, Pruhova S. Rozenkova K, et al. Among authors: obermannova b. J Clin Endocrinol Metab. 2015 Dec;100(12):E1540-9. doi: 10.1210/jc.2015-2763. Epub 2015 Oct 2. J Clin Endocrinol Metab. 2015. PMID: 26431509

10

Novel calcium-sensing receptor cytoplasmic tail deletion mutation causing autosomal dominant hypocalcemia: molecular and clinical study.

Obermannova B, Sumnik Z, Dusatkova P, Cinek O, Grant M, Lebl J, Hendy GN. Obermannova B, et al. Eur J Endocrinol. 2016 Apr;174(4):K1-K11. doi: 10.1530/EJE-15-1216. Epub 2016 Jan 13. Eur J Endocrinol. 2016. PMID: 26764418

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