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Year Number of Results
2009 2
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2011 5
2012 1
2013 4
2014 6
2015 5
2016 3
2017 5
2018 1
2019 3
2020 3
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2022 7
2023 7
2024 7

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52 results

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Page 1
Choledochal Cyst with 17q12 Chromosomal Duplication.
Kotalova R, Dusatkova P, Drabova J, Elblova L, Dedic T, Cinek O, Lebl J, Pruhova S. Kotalova R, et al. Among authors: dusatkova p. Ann Hum Genet. 2018 Jan;82(1):48-51. doi: 10.1111/ahg.12221. Epub 2017 Sep 22. Ann Hum Genet. 2018. PMID: 28940454
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.
Molecular mechanism of HNF-1A-mediated HNF4A gene regulation and promoter-driven HNF4A-MODY diabetes.
Kind L, Molnes J, Tjora E, Raasakka A, Myllykoski M, Colclough K, Saint-Martin C, Adelfalk C, Dusatkova P, Pruhova S, Valtonen-André C, Bellanné-Chantelot C, Arnesen T, Kursula P, Njølstad PR. Kind L, et al. Among authors: dusatkova p. JCI Insight. 2024 Jun 10;9(11):e175278. doi: 10.1172/jci.insight.175278. JCI Insight. 2024. PMID: 38855865 Free PMC article.
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
Association of birthweight and penetrance of diabetes in individuals with HNF4A-MODY: a cohort study.
Locke JM, Dusatkova P, Colclough K, Hughes AE, Dennis JM, Shields B, Flanagan SE, Shepherd MH, Dempster EL, Hattersley AT, Weedon MN, Pruhova S, Patel KA. Locke JM, et al. Among authors: dusatkova p. Diabetologia. 2022 Jan;65(1):246-249. doi: 10.1007/s00125-021-05581-6. Epub 2021 Oct 7. Diabetologia. 2022. PMID: 34618178 Free PMC article. No abstract available.
Familial Short Stature-A Novel Phenotype of Growth Plate Collagenopathies.
Plachy L, Dusatkova P, Maratova K, Petruzelkova L, Elblova L, Kolouskova S, Snajderova M, Obermannova B, Zemkova D, Sumnik Z, Lebl J, Pruhova S. Plachy L, et al. Among authors: dusatkova p. J Clin Endocrinol Metab. 2021 May 13;106(6):1742-1749. doi: 10.1210/clinem/dgab084. J Clin Endocrinol Metab. 2021. PMID: 33570564
52 results