Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Jasna Šuput, Omladič"'
Autor:
Maria João Gaia, Jasna Šuput Omladič, Mojca Kavčič, Maruša Debeljak, Robert Kordič, Primož Kotnik
Publikováno v:
Slovenska pediatrija, Vol 30, Iss 2, Pp 74-78 (2023)
Uvod: Motnje v razvoju spola (DSD) se pojavijo pri približno 1/5000 živorojenih otrok. Med nedavno odkritimi genetskimi vzroki za 46,xY DSD so različice v genu NR5A1, ki so odgovorne za širok fenotipski razpon. Prikaz primera: Predstavljamo prime
Externí odkaz:
https://doaj.org/article/5dde631394aa4e87b08c9e63507aa228
Autor:
Maria João Gaia, Jasna Šuput Omladič, Mojca Kavčič, Maruša Debeljak, Robert Kordič, Primož Kotnik
Publikováno v:
Slovenska pediatrija, Vol 30, Iss 2, Pp 74-78 (2023)
Introduction: Differences of Sex Development (DSD) occur in approximately 1/5000 live births. One of the recently found genetic causes for 46, xY DSD is NR5A1 gene variants, responsible for a broad phenotypic spectrum. Case Report: We present a case
Externí odkaz:
https://doaj.org/article/5ad54bd9ed384e29a5ea029027d795d0
Autor:
Taja Knific, Melisa Lazarevič, Janez Žibert, Nika Obolnar, Nataša Aleksovska, Jasna Šuput Omladič, Tadej Battelino, Magdalena Avbelj Stefanija
Publikováno v:
Frontiers in Endocrinology, Vol 13 (2022)
Background/AimsCentral precocious puberty (CPP) is due to premature activation of the hypothalamic-pituitary-gonadal axis. It predominantly affects girls. CPP leads to lower final height (FH), yet the treatment benefit in girls between 6 and 8 years
Externí odkaz:
https://doaj.org/article/a2d8246dd9c04bffb36dccc258247ff0
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:
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