Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Lana, Stavber"'
Autor:
Lana Stavber, Maria Joao Gaia, Tinka Hovnik, Barbara Jenko Bizjan, Maruša Debeljak, Jernej Kovač, Jasna Šuput Omladič, Tadej Battelino, Primož Kotnik, Klemen Dovč
Publikováno v:
Genes, Vol 13, Iss 6, p 1065 (2022)
Heterozygous variants in the NPR2 gene, which encodes the B-type natriuretic peptide receptor (NPR-B), a regulator of skeletal growth, were reported in 2–6% cases of idiopathic short stature (ISS). Using next-generation sequencing (NGS), we aimed t
Externí odkaz:
https://doaj.org/article/5c3402d40d494194bddc085e40750442
Autor:
Jera Stritar, Lana Stavber, Maja Ficko, Primož Kotnik, Tadej Battelino, Katarina Trebušak Podkrajšek, Tinka Hovnik
Publikováno v:
Genes, Vol 12, Iss 10, p 1546 (2021)
Short stature is a common growth disorder defined as a body height two standard deviations (SD) or more below the mean for a given age, gender, and population. A large part of the cases remains unexplained and is referred to as having idiopathic shor
Externí odkaz:
https://doaj.org/article/2801d4d470a1487c91dba476c207d626
Autor:
Lana, Stavber, Maria Joao, Gaia, Tinka, Hovnik, Barbara, Jenko Bizjan, Maruša, Debeljak, Jernej, Kovač, Jasna Šuput, Omladič, Tadej, Battelino, Primož, Kotnik, Klemen, Dovč
Publikováno v:
Genes. 13(6)
Heterozygous variants in the
Autor:
Luca Lovrečić, M Avbelj Stefanija, Tine Tesovnik, Klemen Dovc, Lana Stavber, Tinka Hovnik, Jernej Kovač, Tadej Battelino, Sara Bertok, Primož Kotnik, Maruša Debeljak
Publikováno v:
European Journal of Endocrinology
Context Defining the underlying etiology of idiopathic short stature (ISS) improves the overall management of an individual. Objective To assess the frequency of pathogenic ACAN variants in selected individuals. Design The single-center cohort study
Autor:
Tadej Battelino, Marija Volk, Sara Bertok, Lana Stavber, Luca Lovrečić, Tinka Hovnik, Jernej Kovač
Publikováno v:
Molecular Cytogenetics
Background The majority of small supernumerary marker chromosome cases arise de novo and their frequency in newborns is 0.04%. We report on a girl with developmental delay and dysmorphic features with a non-mosaic de novo sSMC that originated from th