Zobrazeno 1 - 10
of 60
pro vyhledávání: '"Tinka Hovnik"'
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
Autor:
Ursa Sustar, Urh Groselj, Katarina Trebusak Podkrajsek, Matej Mlinaric, Jernej Kovac, Martin Thaler, Ana Drole Torkar, Ajda Skarlovnik, Tadej Battelino, Tinka Hovnik
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
Lysosomal acid lipase deficiency (LAL-D) is an autosomal recessive lysosomal storage disorder, caused by homozygous or compound heterozygous pathogenic variants in the LIPA gene. Clinically, LAL-D is under- and misdiagnosed, due to similar clinical a
Externí odkaz:
https://doaj.org/article/c20ca39bf7dd4228aeefbb417a684df6
Autor:
Lara Slavec, Ksenija Geršak, Andreja Eberlinc, Tinka Hovnik, Luca Lovrečić, Irena Mlinarič-Raščan, Nataša Karas Kuželički
Publikováno v:
International Journal of Molecular Sciences, Vol 24, Iss 5, p 4262 (2023)
Although the aetiology of non-syndromic orofacial clefts (nsOFCs) is usually multifactorial, syndromic OFCs (syOFCs) are often caused by single mutations in known genes. Some syndromes, e.g., Van der Woude syndrome (VWS1; VWS2) and X-linked cleft pal
Externí odkaz:
https://doaj.org/article/4f5fa5c43eda45a392d321c0dfcabc18
Autor:
Darja Smigoc Schweiger, Katja Goricar, Tinka Hovnik, Andrijana Mendez, Natasa Bratina, Jernej Brecelj, Blanka Vidan-Jeras, Tadej Battelino, Vita Dolzan
Publikováno v:
Frontiers in Pediatrics, Vol 7 (2019)
Genetic polymorphisms in genes coding for inflammasome components nucleotide-binding oligomerization domain leucine rich repeat and pyrin domain-containing protein 3 (NLRP3) and caspase recruitment domain-containing protein 8 (CARD8) have been associ
Externí odkaz:
https://doaj.org/article/3a65847dca554cabb0b5503e90baea39
Autor:
Urh Grošelj, Mojca Žerjav Tanšek, Katarina Trebušak Podkrajšek, Tinka Hovnik, Tadej Battelino, Vita Dolžan
Publikováno v:
Acta Chimica Slovenica, Vol 63, Iss 1, Pp 33-37 (2016)
Extraadrenal enzymes such as CYP2C19 may participate in residual 21-hydroxylation of progesterone leading to milder phenotypes of congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21OHD). Among 94 21OHD patients 28 were homozygou
Externí odkaz:
https://doaj.org/article/135291d7dda1438b8c4c057569bdd7ac
Autor:
Maruša Debeljak, Manca Tekavčič Pompe, Sara Bertok, Tadej Battelino, Brabka Stirn Kranjc, Tinka Hovnik, 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://explore.openaire.eu/search/publication?articleId=doi_dedup___::a967814f77643b247ae2d65a35956ac2
https://doi.org/10.17344/acsi.2021.6690
https://doi.org/10.17344/acsi.2021.6690
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::6ed35cadffb5758c119cc499092156ee
https://pubmed.ncbi.nlm.nih.gov/35741827
https://pubmed.ncbi.nlm.nih.gov/35741827
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c1d8ef10436c97d2944bb34d6dc93819
https://doi.org/10.1530/eje-19-0771
https://doi.org/10.1530/eje-19-0771
Autor:
Jera Stritar, Tadej Battelino, Lana Stavber, Tinka Hovnik, Katarina Trebušak Podkrajšek, Maja Ficko, Primož Kotnik
Publikováno v:
Genes, Vol 12, Iss 1546, p 1546 (2021)
Genes, vol. 12, no. 10, 1546, 2021.
Genes
Volume 12
Issue 10
Genes, vol. 12, no. 10, 1546, 2021.
Genes
Volume 12
Issue 10
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://explore.openaire.eu/search/publication?articleId=doi_dedup___::b027cbd376558908372551514fea1d0c
https://www.mdpi.com/2073-4425/12/10/1546
https://www.mdpi.com/2073-4425/12/10/1546
Autor:
Tinka Hovnik, Eva Zitnik, Magdalena Avbelj Stefanija, Sara Bertok, Katarina Sedej, Vesna Bancic Silva, Tadej Battelino, Urh Groselj
Publikováno v:
Genes. 13:744
Klinefelter syndrome is the most commonly reported sex chromosome abnormality. It is heavily underdiagnosed due to the substantial variability of clinical presentations but is generally characterized by small, firm testes, hypergonadotropic hypogonad
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::241faa806a2db2884b34b0e784f51ef2
https://doi.org/10.3390/genes13050744
https://doi.org/10.3390/genes13050744