Two Cases of Diabetic Ketoacidosis in HNF1A-MODY Linked to Severe Dehydration: Is it time to change the diagnostic criteria for MODY?

por Pruhova, Stepanka, Dusatkova, Petra, Neumann, David, Hollay, Erik, Cinek, Ondrej, Lebl, Jan, Sumnik, Zdenek
Publicado 2013

Growth Plate Genes Are Key Regulators of Growth: Lessons Learned From Children of Consanguineous Families From Kurdistan, Iraq

por Amaratunga, Shenali Anne, Tayeb, Tara Hussein, Dusatkova, Petra, Elblova, Lenka, Pruhova, Stepanka, Lebl, Jan
Publicado 2021

Response to Letter to the Editor from Youn Hee Jee: “Familial Short Stature - A Novel Phenotype of Growth Plate Collagenopathies”

por Plachy, Lukas, Dusatkova, Petra, Elblova, Lenka, Petruzelkova, Lenka, Sumnik, Zdenek, Lebl, Jan, Pruhova, Stepanka
Publicado 2021

The CTLA4 variants may interact with the IL23R- and NOD2-conferred risk in development of Crohn's disease

por Hradsky, Ondrej, Dusatkova, Petra, Lenicek, Martin, Bronsky, Jiri, Nevoral, Jiri, Vitek, Libor, Lukas, Milan, Zeniskova, Ivana, Cinek, Ondrej
Publicado 2010

Search for a time- and cost-saving genetic testing strategy for maturity-onset diabetes of the young

por Dusatkova, Petra, Pavlikova, Marketa, Elblova, Lenka, Larionov, Vladyslav, Vesela, Klara, Kolarova, Katerina, Sumnik, Zdenek, Lebl, Jan, Pruhova, Stepanka
Publicado 2022

Familial Short Stature - a Novel Phenotype of Growth Plate Collagenopathies

por Plachy, Lukas, Dusatkova, Petra, Maratova, Klara, Petruzelkova, Lenka, Kolouskova, Stanislava, Snajderova, Marta, Obermannova, Barbora, Zemkova, Dana, Sumnik, Zdenek, Lebl, Jan, Pruhova, Stepanka
Publicado 2021

Stratifying the Genetic Aetiology in Children Born Small for Gestational Age With Persistent Short Stature (SGA-SS)

por Toni, Ledjona, Plachy, Lukas, Dusatkova, Petra, Elblova, Lenka, Amaratunga, Shenali Anne, Kolouskova, Stanislava, Obermannova, Barbora, Snajderova, Marta, Sumnik, Zdenek, Pruhova, Stepanka, Lebl, Jan
Publicado 2021

Chronic Mild Hyperglycemia in GCK-MODY Patients Does Not Increase Carotid Intima-Media Thickness

por Pruhova, Stepanka, Dusatkova, Petra, Kraml, Pavel J., Kulich, Michal, Prochazkova, Zdena, Broz, Jan, Zikmund, Jaroslav, Cinek, Ondrej, Andel, Michal, Pedersen, Oluf, Hansen, Torben, Lebl, Jan
Publicado 2013

Analysis of children with familial short stature: who should be indicated for genetic testing?

por Plachy, Lukas, Petruzelkova, Lenka, Dusatkova, Petra, Maratova, Klara, Zemkova, Dana, Elblova, Lenka, Neuman, Vit, Kolouskova, Stanislava, Obermannova, Barbora, Snajderova, Marta, Sumnik, Zdenek, Lebl, Jan, Pruhova, Stepanka
Publicado 2023

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

por Spirkova, Alena, Dusatkova, Petra, Peckova, Monika, Kolouskova, Stanislava, Snajderova, Marta, Obermannova, Barbora, Stechova, Katerina, Hrachovinova, Tamara, Mares, Jiri, Cinek, Ondrej, Lebl, Jan, Sumnik, Zdenek, Pruhova, Stepanka
Publicado 2015

Isolated growth hormone deficiency in children with vertically transmitted short stature: What do the genes tell us?

por Plachy, Lukas, Amaratunga, Shenali Anne, Dusatkova, Petra, Maratova, Klara, Neuman, Vit, Petruzelkova, Lenka, Zemkova, Dana, Obermannova, Barbora, Snajderova, Marta, Kolouskova, Stanislava, Sumnik, Zdenek, Lebl, Jan, Pruhova, Stepanka
Publicado 2023

Two New Mutations in the CEL Gene Causing Diabetes and Hereditary Pancreatitis: How to Correctly Identify MODY8 Cases

por El Jellas, Khadija, Dušátková, Petra, Haldorsen, Ingfrid S, Molnes, Janne, Tjora, Erling, Johansson, Bente B, Fjeld, Karianne, Johansson, Stefan, Průhová, Štěpánka, Groop, Leif, Löhr, J Matthias, Njølstad, Pål R, Molven, Anders
Publicado 2021

Anophthalmia, hearing loss, abnormal pituitary development and response to growth hormone therapy in three children with microdeletions of 14q22q23

por Brisset, Sophie, Slamova, Zuzana, Dusatkova, Petra, Briand-Suleau, Audrey, Milcent, Karen, Metay, Corinne, Simandlova, Martina, Sumnik, Zdenek, Tosca, Lucie, Goossens, Michel, Labrune, Philippe, Zemankova, Elsa, Lebl, Jan, Tachdjian, Gerard, Sedlacek, Zdenek
Publicado 2014

Combined pituitary hormone deficiency due to gross deletions in the POU1F1 (PIT-1) and PROP1 genes

por Bertko, Eleonore, Klammt, Jürgen, Dusatkova, Petra, Bahceci, Mithat, Gonc, Nazli, ten Have, Louise, Kandemir, Nurgun, Mansmann, Georg, Obermannova, Barbora, Oostdijk, Wilma, Pfäffle, Heike, Rockstroh-Lippold, Denise, Schlicke, Marina, Tuzcu, Alpaslan Kemal, Pfäffle, Roland
Publicado 2017

Association of birthweight and penetrance of diabetes in individuals with HNF4A-MODY: a cohort study

por Locke, Jonathan M., Dusatkova, Petra, Colclough, Kevin, Hughes, Alice E., Dennis, John M., Shields, Beverley, Flanagan, Sarah E., Shepherd, Maggie H., Dempster, Emma L., Hattersley, Andrew T., Weedon, Michael N., Pruhova, Stepanka, Patel, Kashyap A.
Publicado 2021