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Genetic testing of children with familial tall stature: is it worth doing?
Gregorova K, Plachy L, Dusatkova P, Maratova K, Neuman V, Kolouskova S, Snajderova M, Obermannova B, Drnkova L, Soucek O, Lebl J, Sumnik Z, Pruhova S. Gregorova K, et al. Among authors: dusatkova p. J Clin Endocrinol Metab. 2024 Feb 2:dgae067. doi: 10.1210/clinem/dgae067. Online ahead of print. J Clin Endocrinol Metab. 2024. PMID: 38307035
Analysis of children with familial short stature: who should be indicated for genetic testing?
Plachy L, Petruzelkova L, Dusatkova P, Maratova K, Zemkova D, Elblova L, Neuman V, Kolouskova S, Obermannova B, Snajderova M, Sumnik Z, Lebl J, Pruhova S. Plachy L, et al. Among authors: dusatkova p. Endocr Connect. 2023 Sep 19;12(10):e230238. doi: 10.1530/EC-23-0238. Print 2023 Oct 1. Endocr Connect. 2023. PMID: 37561071 Free PMC article.
Isolated growth hormone deficiency in children with vertically transmitted short stature: What do the genes tell us?
Plachy L, Amaratunga SA, Dusatkova P, Maratova K, Neuman V, Petruzelkova L, Zemkova D, Obermannova B, Snajderova M, Kolouskova S, Sumnik Z, Lebl J, Pruhova S. Plachy L, et al. Among authors: dusatkova p. Front Endocrinol (Lausanne). 2023 Jan 13;13:1102968. doi: 10.3389/fendo.2022.1102968. eCollection 2022. Front Endocrinol (Lausanne). 2023. PMID: 36714562 Free PMC article.
Two New Mutations in the CEL Gene Causing Diabetes and Hereditary Pancreatitis: How to Correctly Identify MODY8 Cases.
El Jellas K, Dušátková P, Haldorsen IS, Molnes J, Tjora E, Johansson BB, Fjeld K, Johansson S, Průhová Š, Groop L, Löhr JM, Njølstad PR, Molven A. El Jellas K, et al. Among authors: dusatkova p. J Clin Endocrinol Metab. 2022 Mar 24;107(4):e1455-e1466. doi: 10.1210/clinem/dgab864. J Clin Endocrinol Metab. 2022. PMID: 34850019 Free PMC article.
56 results