Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Jasna Šuput Omladič"'
Autor:
Nadan Gregoric, Urh Groselj, Natasa Bratina, Marusa Debeljak, Mojca Zerjav Tansek, Jasna Suput Omladic, Jernej Kovac, Tadej Battelino, Primoz Kotnik, Magdalena Avbelj Stefanija
Publikováno v:
Frontiers in Endocrinology, Vol 12 (2021)
Proopiomelanocortin (POMC) deficiency is an extremely rare inherited autosomal recessive disorder characterized by severe obesity, adrenal insufficiency, skin hypopigmentation, and red hair. It is caused by pathogenic variants in the POMC gene that c
Externí odkaz:
https://doaj.org/article/a30917077a1145ce960af5760464ffe2
Autor:
Tjasa Krasovec, Jaka Sikonja, Mojca Zerjav Tansek, Marusa Debeljak, Sasa Ilovar, Katarina Trebusak Podkrajsek, Sara Bertok, Tine Tesovnik, Jernej Kovac, Jasna Suput Omladic, Michaela F. Hartmann, Stefan A. Wudy, Magdalena Avbelj Stefanija, Tadej Battelino, Primoz Kotnik, Urh Groselj
Publikováno v:
Genes, Vol 13, Iss 5, p 717 (2022)
Nicotinamide nucleotide transhydrogenase (NNT) deficiency causes primary adrenal insufficiency (PAI) and possibly some extra-adrenal manifestations. A limited number of these patients were previously described. We present the clinical and genetic cha
Externí odkaz:
https://doaj.org/article/e762fdb0582c47ba970e3668db86faa5
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
Autor:
Robert Saho, Vita Dolzan, Mojca Zerjav Tansek, Andrea Pastorakova, Robert Petrovic, Maria Knapkova, Katarina Trebusak Podkrajsek, Jasna Suput Omladic, Sara Bertok, Magdalena Avbelj Stefanija, Primoz Kotnik, Tadej Battelino, Zuzana Pribilincova, Urh Groselj
Publikováno v:
Frontiers in Endocrinology, Vol 14 (2023)
ObjectiveTo analyze the mutational spectrum, clinical characteristics, genotype–phenotype correlations, testicular adrenal rests tumor prevalence, and role of neonatal screening in congenital adrenal hyperplasia (CAH) patients from Slovakia and Slo
Externí odkaz:
https://doaj.org/article/bdd447f54e584782960d2e7d0280fe60
Autor:
Jasna Suput Omladic, Maja Pajek, Urh Groselj, Katarina Trebusak Podkrajsek, Magdalena Avbelj Stefanija, Mojca Zerjav Tansek, Primoz Kotnik, Tadej Battelino, Darja Smigoc Schweiger
Publikováno v:
Medicina, Vol 57, Iss 3, p 196 (2021)
Background and Objectives. Familial non-autoimmune autosomal dominant hyperthyroidism (FNAH) is a rare cause of childhood hyperthyroidism. It is caused by the thyroid-stimulating hormone receptor (TSHR) gene variants. So far, only around 40 families
Externí odkaz:
https://doaj.org/article/2a47d884aec24675b866f677f6c700ed
Autor:
Maja Pajek, Magdalena Avbelj Stefanija, Katarina Trebusak Podkrajsek, Jasna Suput Omladic, Mojca Zerjav Tansek, Tadej Battelino, Urh Groselj
Publikováno v:
Medicina, Vol 56, Iss 12, p 699 (2020)
Resistance to thyroid hormone beta (RTHβ) is a syndrome characterized by a reduced response of target tissues to thyroid hormones. In 85% of cases, a pathogenic mutation in the thyroid hormone receptor beta (THRB) gene is found. The clinical picture
Externí odkaz:
https://doaj.org/article/8f2960c598ab4c82bc627529ba589f40