Konečná P - Search Results

1

Two Novel Mutations in the JAG1 Gene in Pediatric Patients with Alagille Syndrome: The First Case Series in Czech Republic.

Prochazková D, Borská R, Fajkusová L, Konečná P, Hloušková E, Pavlovský Z, Slabý O, Pospíšilová Š. Prochazková D, et al. Among authors: konecna p. Diagnostics (Basel). 2021 May 28;11(6):983. doi: 10.3390/diagnostics11060983. Diagnostics (Basel). 2021. PMID: 34071626 Free PMC article.

2

Wilson's disease: monocentric experiences over a period of 10 years [corrected].

Prochazkova D, Pouchla S, Mejzlik V, Konecna P, Michalek J, Bartosova D, Hrstkova H. Prochazkova D, et al. Among authors: konecna p. Klin Padiatr. 2009 Dec;221(7):419-24. doi: 10.1055/s-0029-1231074. Klin Padiatr. 2009. PMID: 20013564

3

Controlled diet in phenylketonuria and hyperphenylalaninemia may cause serum selenium deficiency in adult patients: the Czech experience.

Procházková D, Jarkovský J, Vinohradská H, Konečná P, Machačová L, Doležel Z. Procházková D, et al. Among authors: konecna p. Biol Trace Elem Res. 2013 Aug;154(2):178-84. doi: 10.1007/s12011-013-9724-6. Epub 2013 Jun 15. Biol Trace Elem Res. 2013. PMID: 23771645 Clinical Trial.

4

A p.(Glu809Lys) Mutation in the WFS1 Gene Associated with Wolfram-like Syndrome: A Case Report.

Prochazkova D, Hruba Z, Konecna P, Skotakova J, Fajkusova L. Prochazkova D, et al. Among authors: konecna p. J Clin Res Pediatr Endocrinol. 2016 Dec 1;8(4):482-483. doi: 10.4274/jcrpe.3021. Epub 2016 May 23. J Clin Res Pediatr Endocrinol. 2016. PMID: 27217304 Free PMC article.

5

GPD1 Deficiency - Underdiagnosed Cause of Liver Disease.

Tesarova M, Stranecky V, Konecna P, Prochazkova D, Hulkova H, Zeman J, Honzik T, Magner M. Tesarova M, et al. Among authors: konecna p. Indian J Pediatr. 2021 Jan;88(1):80-81. doi: 10.1007/s12098-020-03385-x. Epub 2020 Jun 26. Indian J Pediatr. 2021. PMID: 32591995 No abstract available.

6

[Retinoblastoma in monozygotic twins].

Procházková D, Konecná P, Cíhalová V, Hrstková H, Rehůrek J, Autrata R. Procházková D, et al. Among authors: konecna p. Cesk Slov Oftalmol. 2003 Mar;59(2):134-40. Cesk Slov Oftalmol. 2003. PMID: 12825405 Czech.

7

Long-term treatment for hyperphenylalaninemia and phenylketonuria: a risk for nutritional vitamin B12 deficiency?

Procházková D, Jarkovský J, Haňková Z, Konečná P, Benáková H, Vinohradská H, Mikušková A. Procházková D, et al. Among authors: konecna p. J Pediatr Endocrinol Metab. 2015 Nov 1;28(11-12):1327-32. doi: 10.1515/jpem-2014-0489. J Pediatr Endocrinol Metab. 2015. PMID: 26226119

8

Novel EIF5A-USP6 Gene Fusion in Nodular Fasciitis Associated With Unusual Pathologic Features: A Report of a Case and Review of the Literature.

Lenz J, Michal M, Svajdler M, Ptakova N, Lenz D, Konecna P, Kavka M. Lenz J, et al. Among authors: konecna p. Am J Dermatopathol. 2020 Jul;42(7):539-543. doi: 10.1097/DAD.0000000000001602. Am J Dermatopathol. 2020. PMID: 31880592 Review.

9

Low-Carbohydrate Diet among Children with Type 1 Diabetes: A Multi-Center Study.

Neuman V, Plachy L, Pruhova S, Kolouskova S, Petruzelkova L, Obermannova B, Vyzralkova J, Konecna P, Vosahlo J, Romanova M, Pavlikova M, Sumnik Z. Neuman V, et al. Among authors: konecna p. Nutrients. 2021 Oct 30;13(11):3903. doi: 10.3390/nu13113903. Nutrients. 2021. PMID: 34836158 Free PMC article.

10

Extraskeletal myxoid chondrosarcoma: A study of 17 cases focusing on the diagnostic utility of INSM1 expression and presenting rare morphological variants associated with non-EWSR1::NR4A3 fusions.

Lenz J, Klubíčková N, Ptáková N, Hájková V, Grossmann P, Šteiner P, Kinkor Z, Švajdler M, Michal M, Konečná P, Macháčová D, Hurník P, Tichý M, Tichý F, Kyllar M, Fiala L, Kavka M, Michal M. Lenz J, et al. Among authors: konecna p. Hum Pathol. 2023 Apr;134:19-29. doi: 10.1016/j.humpath.2022.12.005. Epub 2022 Dec 20. Hum Pathol. 2023. PMID: 36563884

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