Zobrazeno 1 - 10
of 20
pro vyhledávání: '"Lenka Elblova"'
Autor:
Lukas Plachy, Lenka Petruzelkova, Petra Dusatkova, Klara Maratova, Dana Zemkova, Lenka Elblova, Vit Neuman, Stanislava Kolouskova, Barbora Obermannova, Marta Snajderova, Zdenek Sumnik, Jan Lebl, Stepanka Pruhova
Publikováno v:
Endocrine Connections, Vol 12, Iss 10, Pp 1-8 (2023)
Familial short stature (FSS) describes vertically transmitted growth disorders. Traditionally, polygenic inheritance is presumed, but monogenic inheritance seems to occur more frequently than expected. Clinical predictors of monogenic FSS have not be
Externí odkaz:
https://doaj.org/article/078154ffc4e1414d9ee692c4d3a535ef
Autor:
Ledjona Toni, Lukas Plachy, Petra Dusatkova, Shenali Anne Amaratunga, Lenka Elblova, Zdenek Sumnik, Stanislava Kolouskova, Marta Snajderova, Barbora Obermannova, Stepanka Pruhova, Jan Lebl
Publikováno v:
Hormone Research in Paediatrics.
Introduction. Among children born small for gestational age, 10-15% fails to catch-up and remains short (SGA-SS). The underlying mechanisms are mostly unknown. We aim to decipher genetic aetiologies of SGA-SS within a large single-centre cohort. Meth
Search for a time- and cost-saving genetic testing strategy for maturity-onset diabetes of the young
Autor:
Petra Dusatkova, Marketa Pavlikova, Lenka Elblova, Vladyslav Larionov, Klara Vesela, Katerina Kolarova, Zdenek Sumnik, Jan Lebl, Stepanka Pruhova
Publikováno v:
Acta diabetologica. 59(9)
Correct genetic diagnosis of maturity-onset diabetes of the young (MODY) is beneficial for person's diabetes management compared to no genetic testing. Aim of the present study was a search for optimal time- and cost-saving strategies by comparing tw
Autor:
Stanislava Kolouskova, Jan Lebl, Zdenek Sumnik, Lukas Plachy, Stepanka Pruhova, Marta Snajderova, Lenka Petruzelkova, Lenka Elblova, Petra Dusatkova, Ledjona Toni, Petra Kucerova, Klara Maratova, Dana Zemkova
Publikováno v:
The Journal of Clinical Endocrinology & Metabolism. 105:e746-e752
Context The C-type natriuretic peptide receptor encoded by the NPR2 gene is a paracrine regulator of the growth plate; heterozygous NPR2 variants cause short stature with possible presence of different signs of bone dysplasia. To date, the effect of
Autor:
Zdenek Sumnik, Jan Lebl, Lenka Petruzelkova, Dana Zemkova, Marta Snajderova, Stanislava Kolouskova, Stepanka Pruhova, Klara Maratova, Petra Dusatkova, Lenka Elblova, Barbora Obermannova, Lukas Plachy
Publikováno v:
The Journal of Clinical Endocrinology and Metabolism
Context Collagens are the most abundant proteins in the human body. In a growth plate, collagen types II, IX, X, and XI are present. Defects in collagen genes cause heterogeneous syndromic disorders frequently associated with short stature. Less is k
Autor:
Petra Dusatkova, Dana Zemkova, Marta Snajderova, Jan Lebl, Stepanka Pruhova, Lukas Plachy, Stanislava Kolouskova, Veronika Strakova, Barbora Obermannova, Lenka Elblova, Zdenek Sumnik
Publikováno v:
The Journal of Clinical Endocrinology & Metabolism. 104:4273-4281
ContextFamilial short stature (FSS) is a term describing a growth disorder that is vertically transmitted. Milder forms may result from the combined effect of multiple genes; more severe short stature is suggestive of a monogenic condition. The etiol
Autor:
Lenka Elblova, Stepanka Pruhova, Lukas Plachy, Petra Dusatkova, Lenka Petruzelkova, Jan Lebl, Zdenek Sumnik
Publikováno v:
The Journal of Clinical Endocrinology & Metabolism. 107:e445-e446
Autor:
Tara Hussein Tayeb, Jan Lebl, Stepanka Pruhova, Shenali Anne Amaratunga, Lenka Elblova, Petra Dusatkova
Publikováno v:
Journal of the Endocrine Society
Introduction: The genetic basis of human growth regulation has only been partly elucidated thus far. Therefore, finding causative genes in patients with short stature help in understanding precise pathophysiological mechanisms, establishing genotype-
Autor:
Jan Lebl, Shenali Anne Amaratunga, Marta Snajderova, Barbora Obermannova, Stepanka Pruhova, Stanislava Kolouskova, Ledjona Toni, Lenka Elblova, Zdenek Sumnik, Petra Dusatkova, Lukas Plachy
Publikováno v:
Journal of the Endocrine Society
Background: Ten percent of children born small for gestational age with a birth weight and/or length of below -2 SD for their gestational age fail to catch-up and remain short during childhood (SGA-SS). The etiology of SGA-SS is heterogeneous: some c
Autor:
Stepanka Pruhova, Stanislava Kolouskova, Marta Snajderova, Maratova K, Jan Lebl, Toni L, Lenka Elblova, Lenka Petruzelkova, Plachy L, Sumnik Z, Kucerova P, Daniela Zemkova, Petra Dusatkova
Publikováno v:
Yearbook of Paediatric Endocrinology.