Zobrazeno 1 - 10
of 163
pro vyhledávání: '"Aleš, Maver"'
Autor:
Saša Anžej Doma, Nika Kraljić, Aleša Kristan, Nataša Debeljak, Aleš Maver, Tadej Pajič, Irena Preložnik Zupan
Publikováno v:
Frontiers in Medicine, Vol 11 (2024)
BackgroundCongenital erythrocytosis (CE) is increasingly recognized as the cause of erythrocytosis in patients in whom polycythemia vera and secondary acquired causes have been excluded. The aim of our study was to determine possible genetic backgrou
Externí odkaz:
https://doaj.org/article/c87e5cdebb334e71a89c41aff22e607a
Autor:
Sissy Bassani, Jacqueline Chrast, Giovanna Ambrosini, Norine Voisin, Frédéric Schütz, Alfredo Brusco, Fabio Sirchia, Lydia Turban, Susanna Schubert, Rami Abou Jamra, Jan-Ulrich Schlump, Desiree DeMille, Pinar Bayrak-Toydemir, Gary Rex Nelson, Kristen Nicole Wong, Laura Duncan, Mackenzie Mosera, Christian Gilissen, Lisenka E. L. M. Vissers, Rolph Pfundt, Rogier Kersseboom, Hilde Yttervik, Geir Åsmund Myge Hansen, Marie Falkenberg Smeland, Kameryn M. Butler, Michael J. Lyons, Claudia M. B. Carvalho, Chaofan Zhang, James R. Lupski, Lorraine Potocki, Leticia Flores-Gallegos, Rodrigo Morales-Toquero, Florence Petit, Binnaz Yalcin, Annabelle Tuttle, Houda Zghal Elloumi, Lane McCormick, Mary Kukolich, Oliver Klaas, Judit Horvath, Marcello Scala, Michele Iacomino, Francesca Operto, Federico Zara, Karin Writzl, Aleš Maver, Maria K. Haanpää, Pia Pohjola, Harri Arikka, Anneke J. A. Kievit, Camilla Calandrini, Christian Iseli, Nicolas Guex, Alexandre Reymond
Publikováno v:
Genome Medicine, Vol 16, Iss 1, Pp 1-18 (2024)
Abstract Background We previously described the KINSSHIP syndrome, an autosomal dominant disorder associated with intellectual disability (ID), mesomelic dysplasia and horseshoe kidney, caused by de novo variants in the degron of AFF3. Mouse knock-in
Externí odkaz:
https://doaj.org/article/0358fc56f6054b188a138c71c996e968
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:
Aleš Maver
Publikováno v:
Edinost in Dialog, Vol 78, Iss 1, Pp 15-41 (2023)
The author argues that at least since the 14th century, one can speak of great differences in the development of the relationship between Eastern Orthodoxy and political authorities. Whereas Eastern Orthodoxy in the present-day Russia always tried to
Externí odkaz:
https://doaj.org/article/8ca810df97b846d6887a810de48065b1
Autor:
Anja Kovanda, Tadeja Lukežič, Aleš Maver, Hana Vokač Križaj, Mojca Čižek Sajko, Julij Šelb, Matija Rijavec, Urška Bidovec-Stojković, Barbara Bitežnik, Boštjan Rituper, Peter Korošec, Borut Peterlin
Publikováno v:
International Journal of Molecular Sciences, Vol 25, Iss 14, p 7674 (2024)
Determining the genetic contribution of susceptibility to severe SARS-CoV-2 infection outcomes is important for public health measures and individualized treatment. Through intense research on this topic, several hundred genes have been implicated as
Externí odkaz:
https://doaj.org/article/bc73afd1ac7442ac84c511432fa5c9cd
Publikováno v:
Scientific Reports, Vol 13, Iss 1, Pp 1-9 (2023)
Abstract Population-based estimates of pathogenic variation burden in gynecologic cancer predisposition genes are a prerequisite for the development of effective precision public health strategies. This study aims to reveal the burden of pathogenic v
Externí odkaz:
https://doaj.org/article/b2a362aa7ac249ad854c20c94f24b909
Autor:
Tit Livij, Aleš Maver
Publikováno v:
Clotho, Vol 5, Iss 1 (2023)
Prevodu prvih petih knjig Livijevega dela, ki je ostal v zapuščini Primoža Simonitija in je lani izšel pri Slovenski matici, bo letos sledil izid druge peterke v prevodu Aleša Mavra. Kot pri prvi peterki so opombe tudi tu povzete po izdaji Han
Externí odkaz:
https://doaj.org/article/c97972ca3d3f4b2a93838d3e9f260e5d
Autor:
Anja Kovanda, Valentino Rački, Gaber Bergant, Dejan Georgiev, Dušan Flisar, Eliša Papić, Marija Brankovic, Milena Jankovic, Marina Svetel, Nataša Teran, Aleš Maver, Vladimir S. Kostic, Ivana Novakovic, Zvezdan Pirtošek, Martin Rakuša, Vladimira Vuletić, Borut Peterlin
Publikováno v:
npj Parkinson's Disease, Vol 8, Iss 1, Pp 1-4 (2022)
Abstract Parkinson’s disease (PD) guidelines lack clear criteria for genetic evaluation. We assessed the yield and rationale of genetic testing for PD in a routine clinical setting on a multicenter cohort of 149 early-onset and familial patients by
Externí odkaz:
https://doaj.org/article/8212afa2f27e4934942d7333f97b9926
Publikováno v:
Frontiers in Molecular Biosciences, Vol 10 (2023)
Introduction: Male infertility is a common, complex disorder. A better understanding of pathogenesis and etiology is needed for timely diagnosis and treatment. The aim of this study, therefore, was to identify genes involved in the pathogenesis of id
Externí odkaz:
https://doaj.org/article/0047f574584243cb9126cd3edd95dde0
Autor:
Marijana Vidmar Šimic, Aleš Maver, Ana Nyasha Zimani, Keli Hočevar, Borut Peterlin, Anja Kovanda, Tanja Premru-Sršen
Publikováno v:
Frontiers in Medicine, Vol 10 (2023)
BackgroundThe etiology of preterm birth (PTB) is heterogeneous and not yet well known. Maternal periodontal disease has been investigated for decades and is a known risk factor for adverse pregnancy outcomes. However, no particular bacterial species
Externí odkaz:
https://doaj.org/article/92aefc82863340969ab6e2d116398d9d