Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Nataša, Teran"'
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
Autor:
Nina Vodnjov, Janez Toplišek, Aleš Maver, Goran Čuturilo, Helena Jaklič, Nataša Teran, Tanja Višnjar, Maruša Škrjanec Pušenjak, Alenka Hodžić, Olivera Miljanović, Borut Peterlin, Karin Writzl
Publikováno v:
PLoS ONE, Vol 18, Iss 12, p e0294969 (2023)
Founder variants in sarcomere protein genes account for a significant proportion of disease-causing variants in patients with hypertrophic cardiomyopathy (HCM). However, information on founder variants in non-sarcomeric protein genes, such as FHOD3,
Externí odkaz:
https://doaj.org/article/2bfe9ebcae724374a4b95a045c71fd9d
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 7, Iss 6, Pp n/a-n/a (2019)
Abstract Background The implementation of molecular karyotyping has resulted in an improved diagnostic yield in the genetic diagnostics of congenital anomalies, detected prenatally or after the termination of pregnancy. However, the systematic epidem
Externí odkaz:
https://doaj.org/article/3aec645edef145649c497ca8e85b240f
Autor:
Maja Potrč, Marija Volk, Matteo de Rosa, Jože Pižem, Nataša Teran, Helena Jaklič, Aleš Maver, Brigita Drnovšek-Olup, Michela Bollati, Katarina Vogelnik, Alojzija Hočevar, Ana Gornik, Vladimir Pfeifer, Borut Peterlin, Marko Hawlina, Ana Fakin
Publikováno v:
International Journal of Molecular Sciences, Vol 22, Iss 3, p 1084 (2021)
Gelsolin amyloidosis typically presents with corneal lattice dystrophy and is most frequently associated with pathogenic GSN variant p.Asp214Asn. Here we report clinical and histopathological features of gelsolin amyloidosis associated with a novel G
Externí odkaz:
https://doaj.org/article/d8d75b2f377c427099932851715d1170
Publikováno v:
PLoS ONE, Vol 13, Iss 1, p e0188578 (2018)
Hereditary hearing loss (HL) is a common sensory disorder, with an incidence of 1-2 per 1000 newborns, and has a genetic etiology in over 50% of cases. It occurs either as part of a syndrome or in isolation and is genetically very heterogeneous which
Externí odkaz:
https://doaj.org/article/74d4157805a4410f8f4613f8187ecc8e
Autor:
Maja, Potrč, Marija, Volk, Matteo, de Rosa, Jože, Pižem, Nataša, Teran, Helena, Jaklič, Aleš, Maver, Brigita, Drnovšek-Olup, Michela, Bollati, Katarina, Vogelnik, Alojzija, Hočevar, Ana, Gornik, Vladimir, Pfeifer, Borut, Peterlin, Marko, Hawlina, Ana, Fakin
Publikováno v:
International Journal of Molecular Sciences
Simple Summary Gelsolin amyloidosis is a rare autosomal dominant genetic disease, which typically affects the cornea, skin and sometimes other organ systems and is caused by mutations in a gene coding for gelsolin protein (GSN). We describe a novel m
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::fb428a044bff32f083ec8072769d477e
https://pubmed.ncbi.nlm.nih.gov/33499149
https://pubmed.ncbi.nlm.nih.gov/33499149
Publikováno v:
Paediatria Croatica
Volume 59
Issue 2
Volume 59
Issue 2
Prenatal genetic testing is under the remit of the National Health Service in Slovenia and has been included in clinical routine since the 1980s. Traditionally, prenatal services have consisted of karyotyping and rapid fetal aneuploidy screening to d
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od_______951::29a22b3eaf97b634cab129cd25e13e84
https://hrcak.srce.hr/142604
https://hrcak.srce.hr/142604
Autor:
Janez Kirbiš, Aleksandra Milutinović, Klemen Steblovnik, Nataša Teran, Rifet Terzić, Marjeta Zorc
Publikováno v:
Collegium antropologicum
Volume 28
Issue 2
Volume 28
Issue 2
Receptor for advanced glycation end products (RAGE) plays a role in atherosclerosis in diabetics. There are two functional polymorphisms in the promoter of the RAGE gene (–429T/C and –374T/A). The aim of this study was to look for a relationship
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od_______951::d5895cd6fb736b3f94bda20d8f48098b
https://hrcak.srce.hr/file/8729
https://hrcak.srce.hr/file/8729
Publikováno v:
Human Reproduction; Sep2004, Vol. 19 Issue 9, p2084-2087, 4p