ESPE Abstracts

Unexplained Neonatal Deaths Among Kurdish Consanguineous Families: Importance of Recognizing Congenital Hyperinsulinism and Testing for KATP Channel Gene Variants | ESPE2019
Amaratunga Shenali Anne; Tara Hussein Tayeb; Klara Rozenkova; Petra Kucerova; Stepanka Pruhova; Jan Lebl
http://abstracts.eurospe.org/hrp/0092/hrp0092P1-317
Published: 2019-08-22

Deciphering Genetic Aetiology Among Children Born Small-For-Gestational-Age with Persistent Short Stature (SGA-SS): Phenotypic Characteristics at Diagnosis in a Large Single-Centre Cohort | ESPE2019
Ledjona Toni; Lukas Plachy; Petra Kucerova; Lenka Elblova; Zdenek Sumnik; Stanislava Kolouskova; Marta Snajderova; Barbora Oberm
http://abstracts.eurospe.org/hrp/0092/hrp0092RFC14.2
Published: 2019-08-22

Genetic Aetiology Predicts Growth Hormone (GH) Treatment Outcomes in Children Born Small-For-Gestational-Age with Persistent Short Stature (SGA-SS). Lessons from a Single-Centre Cohort | ESPE2019
Jan Lebl; Ledjona Toni; Lukas Plachy; Petra Kucerova; Lenka Elblova; Zdenek Sumnik; Stanislava Kolouskova; Marta Snajderova; Bar
http://abstracts.eurospe.org/hrp/0092/hrp0092RFC6.6
Published: 2019-08-22

NPR2 Gene Mutations were Found in 5.4% Children with Familial Short Stature | ESPE2019
Lukas Plachy; Lenka Petruzelkova; Veronika Strakova; Lenka Elblova; Petra Kucerova; Barbora Obermannova; Stanislava Kolouskova;
http://abstracts.eurospe.org/hrp/0092/hrp0092FC12.2
Published: 2019-08-22

Unexplained Neonatal Deaths Among Kurdish Consanguineous Families: Importance of Recognizing Congenital Hyperinsulinism and Testing for KATP Channel Gene Variants | ESPE2019
Amaratunga Shenali Anne; Tara Hussein Tayeb; Klara Rozenkova; Petra Kucerova; Stepanka Pruhova; Jan Lebl
http://abstracts.eurospe.org/hrp/0092/hrp0092p1-317.html
Published: 2019-08-22

Deciphering Genetic Aetiology Among Children Born Small-For-Gestational-Age with Persistent Short Stature (SGA-SS): Phenotypic Characteristics at Diagnosis in a Large Single-Centre Cohort | ESPE2019
Ledjona Toni; Lukas Plachy; Petra Kucerova; Lenka Elblova; Zdenek Sumnik; Stanislava Kolouskova; Marta Snajderova; Barbora Oberm
http://abstracts.eurospe.org/hrp/0092/hrp0092rfc14.2.html
Published: 2019-08-22

Genetic Aetiology Predicts Growth Hormone (GH) Treatment Outcomes in Children Born Small-For-Gestational-Age with Persistent Short Stature (SGA-SS). Lessons from a Single-Centre Cohort | ESPE2019
Jan Lebl; Ledjona Toni; Lukas Plachy; Petra Kucerova; Lenka Elblova; Zdenek Sumnik; Stanislava Kolouskova; Marta Snajderova; Bar
http://abstracts.eurospe.org/hrp/0092/hrp0092rfc6.6.html
Published: 2019-08-22

NPR2 Gene Mutations were Found in 5.4% Children with Familial Short Stature | ESPE2019
Lukas Plachy; Lenka Petruzelkova; Veronika Strakova; Lenka Elblova; Petra Kucerova; Barbora Obermannova; Stanislava Kolouskova;
http://abstracts.eurospe.org/hrp/0092/hrp0092fc12.2.html
Published: 2019-08-22

A Case of Hutchinson-Gilford Progeria Syndrome (HGPS) due to a Pathogenic LMNA Variant c.433G>A (p.Glu145Lys): Growth Hormone Administration Failed to Improve Growth and Long-term Outcome | ESPE2018
Ledjona Toni; Petra Dušatkoa; Dana Novotna; Dana Zemkova; Štěpanka PrUhova; Jan Lebl
http://abstracts.eurospe.org/hrp/0089/hrp0089p3-p242.htm
Published: 2018-08-28

A Homozygous Pathogenic Variant in the TRHR Gene in a Boy Who Presented With Severe Familial Short Stature and Central Hypothyroidism | ESPE2018
Marta Šnajderova; Lukaš Plachy; Veronika Strakova; Lenka Elblova; Petra Dušatkova; Dana Zemkova; Jan Lebl; Štěpanka Pruhova
http://abstracts.eurospe.org/hrp/0089/hrp0089p2-p270.htm
Published: 2018-08-28