L. Elblová

发表

MODY in Ukraine: genes, clinical phenotypes and treatment

S. Ellard, O. Cinek, S. Pruhova, 2017, Journal of pediatric endocrinology & metabolism : JPEM.

A case of digenic maturity onset diabetes of the young with heterozygous variants in both HNF1Α and HNF1Β genes.

O. Cinek, A. Vazeou, A. Sertedaki, 2021, European journal of medical genetics.

Familial short stature - a novel phenotype of growth plate collagenopathies.

Z. Šumník, M. Šnajderová, S. Pruhova, 2021, The Journal of clinical endocrinology and metabolism.

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

Z. Šumník, S. Pruhova, J. Lebl, 2022, Acta Diabetologica.

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

Z. Šumník, S. Pruhova, J. Lebl, 2021, The Journal of clinical endocrinology and metabolism.

Novel glucokinase gene mutation in the first Macedonian family tested for MODY.

M. Kocova, S. Pruhova, J. Lebl, 2017, Diabetes research and clinical practice.

Clinical Characterization of Patients With Autosomal Dominant Short Stature due to Aggrecan Mutations

S. Lalani, M. Shinawi, J. Baron, 2017, The Journal of clinical endocrinology and metabolism.

NPR2 variants are frequent among children with familiar short stature and respond well to growth hormone therapy.

P. Kučerová, Z. Šumník, M. Šnajderová, 2020, The Journal of clinical endocrinology and metabolism.

For Debate: The Significance of Etiologic Diagnosis in Neonates with Overgrowth Syndromes. Lesson Learned from the Simpson-Golabi-Behmel Syndrome.

S. Pruhova, J. Lebl, Z. Straňák, 2018, Pediatric endocrinology reviews : PER.

High prevalence of growth plate gene variants in children with familial short stature treated with growth hormone.

Z. Šumník, M. Šnajderová, S. Pruhova, 2019, The Journal of clinical endocrinology and metabolism.

Short Stature in a Boy with Multiple Early-Onset Autoimmune Conditions due to a STAT3 Activating Mutation: Could Intracellular Growth Hormone Signalling Be Compromised? 

V. Kanderova, E. Froňková, A. Šedivá, 2017, Hormone Research in Paediatrics.

Screening of monogenic autoimmune diabetes among children with type 1 diabetes and multiple autoimmune diseases: is it worth doing?

A. Hattersley, E. Froňková, Z. Šumník, 2019, Journal of pediatric endocrinology & metabolism : JPEM.

Quality of Life and Treatment Satisfaction in Participants with Maturity-Onset Diabetes of the Young: A Comparison to Other Major Forms of Diabetes.

O. Cinek, Z. Šumník, S. Pruhova, 2020, Experimental and clinical endocrinology & diabetes : official journal, German Society of Endocrinology [and] German Diabetes Association.

Familial Short Stature—A Novel Phenotype of Growth Plate Collagenopathies

Z. Šumník, M. Šnajderová, S. Pruhova, 2021, The Journal of Clinical Endocrinology & Metabolism.