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SALL4 Phenotype in Four Generations of One Family: An Interplay of the Upper Limb, Kidneys, and the Pituitary.
Published in:
Hormone Research in Paediatrics, 2024, v. 97, n. 2, p. 203, doi. 10.1159/000531996
By:
- Kodytková, Aneta;
- Amaratunga, Shenali Anne;
- Zemková, Daniela;
- Maratová, Klára;
- Dušátková, Petra;
- Plachý, Lukáš;
- Průhová, Štěpánka;
- Koloušková, Stanislava;
- Lebl, Jan
Publication type:
Article
Integrative Role of the SALL4 Gene: From Thalidomide Embryopathy to Genetic Defects of the Upper Limb, Internal Organs, Cerebral Midline, and Pituitary.
Published in:
Hormone Research in Paediatrics, 2024, v. 97, n. 2, p. 106, doi. 10.1159/000531452
By:
- Kodytková, Aneta;
- Dušátková, Petra;
- Amaratunga, Shenali Anne;
- Plachý, Lukáš;
- Průhová, Štěpánka;
- Lebl, Jan
Publication type:
Article
The Genetic Landscape of Children Born Small for Gestational Age with Persistent Short Stature.
Published in:
Hormone Research in Paediatrics, 2024, v. 97, n. 1, p. 40, doi. 10.1159/000530521
By:
- Toni, Ledjona;
- Plachy, Lukas;
- Dusatkova, Petra;
- Amaratunga, Shenali Anne;
- Elblova, Lenka;
- Sumnik, Zdenek;
- Kolouskova, Stanislava;
- Snajderova, Marta;
- Obermannova, Barbora;
- Pruhova, Stepanka;
- Lebl, Jan
Publication type:
Article
A comprehensive validation study of the latest version of BoneXpert on a large cohort of Caucasian children and adolescents.
Published in:
Frontiers in Endocrinology, 2023, v. 14, p. 01, doi. 10.3389/fendo.2023.1130580
By:
- Maratova, Klara;
- Zemkova, Dana;
- Sedlak, Petr;
- Pavlikova, Marketa;
- Amaratunga, Shenali Anne;
- Krasnicanova, Hana;
- Soucek, Ondrej;
- Sumnik, Zdenek
Publication type:
Article
Invaluable Role of Consanguinity in Providing Insight into Paediatric Endocrine Conditions: Lessons Learnt from Congenital Hyperinsulinism, Monogenic Diabetes, and Short Stature.
Published in:
Hormone Research in Paediatrics, 2022, v. 95, n. 1, p. 1, doi. 10.1159/000521210
By:
- Amaratunga, Shenali Anne;
- Tayeb, Tara Hussein;
- Dusatkova, Petra;
- Pruhova, Stepanka;
- Lebl, Jan
Publication type:
Article
Congenital Hyperinsulinism Caused by Novel Homozygous K<sub>ATP</sub> Channel Gene Variants May Be Linked to Unexplained Neonatal Deaths among Kurdish Consanguineous Families.
Published in:
Hormone Research in Paediatrics, 2020, v. 93, n. 1, p. 58, doi. 10.1159/000506476
By:
- Amaratunga, Shenali Anne;
- Hussein Tayeb, Tara;
- Rozenkova, Klara;
- Kucerova, Petra;
- Pruhova, Stepanka;
- Lebl, Jan
Publication type:
Article
Isolated growth hormone deficiency in children with vertically transmitted short stature: What do the genes tell us?
Published in:
Frontiers in Endocrinology, 2023, v. 13, p. 01, doi. 10.3389/fendo.2022.1102968
By:
- 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
Publication type:
Article
Gregor Mendel a řízení růstu dítěte: geny, molekuly a pediatrická klinická praxe.
Published in:
Czecho-Slovak Pediatrics / Česko-Slovenská Pediatrie, 2022, v. 77, n. 4, p. 206, doi. 10.55095/cspediatrie2022/033
By:
- Ledjona, Toni;
- Lukáš, Plachý;
- Shenali, Amaratunga Anne;
- Petra, Dušátková;
- Aneta, Kodytková;
- Stanislava, Koloušková;
- Štěpánka, Průhová;
- Jan, Lebl
Publication type:
Article

Found: 8