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HNF1A
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RNDr. Petra Dušátková Ph.D.
External academic staff at Second Faculty of Medicine
68 publications
Publications
publication
Functional Analyses of HNF1A-MODY Variants Refine the Interpretation of Identified Sequence Variants
2020 |
Second Faculty of Medicine
publication
MODY in Ukraine: genes, clinical phenotypes and treatment
2017 |
Second Faculty of Medicine
publication
Substantial proportion of MODY among multiplex families participating in a Type 1 diabetes prediction programme
2016 |
Second Faculty of Medicine
publication
The Common p.R114W HNF4A Mutation Causes a Distinct Clinical Subtype of Monogenic Diabetes
2016 |
Second Faculty of Medicine
publication
High incidence of heterozygous ABCC8 and HNF1A mutations in Czech patients with congenital hyperinsulinism
2015 |
Second Faculty of Medicine, Third Faculty of Medicine, First Faculty of Medicine
publication
De novo mutations of GCK, HNF1A and HNF4A may be more frequent in MODY than previously assumed
2014 |
Second Faculty of Medicine, First Faculty of Medicine, Faculty of Physical Education and Sport
publication
Lessons from whole-exome sequencing in MODYX families
2014 |
Second Faculty of Medicine
publication
Two Cases of Diabetic Ketoacidosis in HNF1A-MODY Linked to Severe Dehydration: Is it time to change the diagnostic criteria for MODY?
2013 |
Second Faculty of Medicine, First Faculty of Medicine, Faculty of Physical Education and Sport, Faculty of Medicine in Hradec Králové
publication
HNF1A mutation presenting with fetal macrosomia and hypoglycemia in childhood prior to onset of overt diabetes
+1
2011 |
Second Faculty of Medicine, Third Faculty of Medicine
publication
Lack of PAX4 mutations in 53 Czech MODYX families
2010 |
Second Faculty of Medicine
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