Zobrazeno 1 - 10
of 154
pro vyhledávání: '"Maruša, Debeljak"'
Autor:
Ana Peterlin, Sara Bertok, Karin Writzl, Luca Lovrečić, Aleš Maver, Borut Peterlin, Maruša Debeljak, Gregor Nosan
Publikováno v:
Life, Vol 14, Iss 9, p 1118 (2024)
Congenital heart disease (CHD) is the most commonly detected congenital anomaly and affects up to 1% of all live-born neonates. Current guidelines support the use of chromosomal microarray analysis (CMA) and next-generation sequencing (NGS) as diagno
Externí odkaz:
https://doaj.org/article/c8de490009d64f8a8114c8222891020a
Autor:
Tamara Rojnik, Nataša Sedlar, Nana Turk, Andrej Kastrin, Maruša Debeljak, Mojca Božič Mijovski
Publikováno v:
Scientific Reports, Vol 13, Iss 1, Pp 1-13 (2023)
Abstract Antithrombin (AT) deficiency increases the risk for venous thromboembolism, therefore, a highly sensitive assay to identify this condition is crucial. The aim of this paper was to perform a meta-analysis comparing AT activities measured by d
Externí odkaz:
https://doaj.org/article/d6f23f592923409bb5b805670627a1b9
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:
Mojca Jensterle, Andrej Janež, Tina Vipotnik Vesnaver, Maruša Debeljak, Nika Breznik, Katarina Trebušak Podkrajšek, Rok Herman, Eric Fliers, Tadej Battelino, Magdalena Avbelj Stefanija
Publikováno v:
Frontiers in Endocrinology, Vol 14 (2023)
IntroductionThe occurrence of prolactinomas in sex hormone treated patients with central hypogonadism is extremely rare.Case presentationWe present a Caucasian male patient who was diagnosed with Kallmann syndrome (KS) at age 15 years. Testosterone t
Externí odkaz:
https://doaj.org/article/46a23ec0abd5479dbc969d990c45e030
Autor:
Katarina Štajer, Neja Kovač, Jaka Šikonja, Matej Mlinarič, Sara Bertok, Jernej Brecelj, Maruša Debeljak, Jernej Kovač, Gašper Markelj, David Neubauer, Rina Rus, Mojca Žerjav Tanšek, Ana Drole Torkar, Aleksandra Zver, Tadej Battelino, Rosa Jiménez Torres, Urh Grošelj
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 36, Iss , Pp 100986- (2023)
Phosphoribosylpyrophosphate synthetase 1 (PRSI) is an enzyme involved in nucleotide metabolism. Pathogenic variants in the PRPS1 are rare and PRS-I deficiency can manifest as three clinical syndromes: X-linked non-syndromic sensorineural deafness (DF
Externí odkaz:
https://doaj.org/article/50a4fddc3e394652a0dc8f01a9ee15fc
Autor:
Mojca Železnik, Aneta Soltirovska Šalamon, Maruša Debeljak, Aleš Goropevšek, Nataša Šuštar, Damjana Ključevšek, Alojz Ihan, Tadej Avčin
Publikováno v:
Frontiers in Immunology, Vol 13 (2023)
Aicardi–Goutières syndrome (AGS) is a genetically determined early-onset progressive encephalopathy caused by mutations leading to overexpression of type I interferon (IFN) and resulting in various clinical phenotypes. A gain-of-function (GOF) mut
Externí odkaz:
https://doaj.org/article/0d893e5433364629b656927ea39fc09d
Publikováno v:
Slovenska pediatrija, Vol 28, Iss 4, Pp 183-188 (2021)
Akutna limfoblastna levkemija (ALL) je genetsko zelo hete-rogena bolezen in tudi ena najbolje raziskanih. Kljub temu je naše razumevanje, kako genetske spremembe sodelujejo pri nastanku levkemije ali odpornosti na zdravljenje, še vedno pomanjkljivo
Externí odkaz:
https://doaj.org/article/2cbef6dd54cc4a70a11e2a12d0cb86a3
Publikováno v:
Slovenska pediatrija, Vol 28, Iss 4, Pp 183-188 (2021)
Genetically, acute lymphoblastic leukaemia (ALL) is a very heterogeneous disease, but it has also been one of the most thoroughly researched diseases. Nevertheless, our knowledge of how genetic changes are interrelated in the development of leukaemia
Externí odkaz:
https://doaj.org/article/0b8ce6b6f7e64ac48d351e36c2f27dc5
Autor:
Tinka Hovnik, Maruša Debeljak, Manca Tekavčič Pompe, Sara Bertok, Tadej Battelino, Brabka Stirn Kranjc, Katarina Trebušak Podkrajšek
Publikováno v:
Acta Chimica Slovenica, Vol 68, Iss 3, Pp 683-692 (2021)
Oculocutaneous albinism (OCA) is an inherited disorder affecting the visual system and skin pigmentation. Our aim was to evaluate genetic and clinical heterogeneity in a cohort of Slovenian paediatric patients with clinically suspected OCA using adva
Externí odkaz:
https://doaj.org/article/da104f3495fd4205ab2d9b0e7b4a4528