biomedicina slovenica


"GENETICS" : 2567

  1. Muzurović Emir; Volčanšek Špela; Zibar Tomšić Karin Zibar; Janež Andrej; Mikhailidis Dimitri P; Rizzo Manfredi; Mantzoros Christos S.
    Glucagon-like peptide-1 receptor agonists and dual glucose-dependent insulinotropic polypeptide/glucagon-like peptide-1 receptor agonists in the treatment of obesity/metabolic syndrome, prediabetes/diabetes and non-alcoholic fatty liver disease—current evidence
    2022
  2. Lemmers Richard J. L. F.; Vliet Patrick van der; Blatnik Ana; Balogh Judit; Zidar Janez; Henderson D.; Goselink Rianne; Tapscott Stephen J.; Voermans Nicol C.; Tawil Rabi N.
    Chromosome 10q-linked FSHD identifies DUX4 as principal disease gene
    2022
  3. Onengut-Gumuscu Suna; Chen Wei-Min; Burren Oliver; Cooper Nick J.; Quinlan Aaron R.; van der Spek Rick A. A.; Avbelj Stefanija Magdalena; Battelino Tadej
    Fine mapping of type 1 diabetes susceptibility loci and evidence for colocalization of causal variants with lymphoid gene enhancers
    2015
  4. Klančar Gašper; Blatnik Ana; Šetrajčič Dragoš Vita; Vogrič Vesna; Stegel Vida; Blatnik Olga; Drev Primož; Gazić Barbara; Krajc Mateja; Novaković Srdjan
    A novel germline MLH1 in-frame deletion in a Slovenian Lynch syndrome family associated with uncommon isolated PMS2 loss in tumor tissue
    2020
  5. Petrič Boštjan; Redenšek Trampuž Sara; Dolžan Vita; Bavec Aljoša
    Paraoxonase 1 in Parkinson's disease dementia
    2022
  6. Kovač Jernej; Šket Robert
    Genotyping paediatric obesity ‐ an argument for early genetic screening
    2022
  7. Holcar Marija; Lenassi Metka
    Extracellular vesicles as biomarkers (of treatment response)
    2022
  8. Štampar Patricija; Blagus Tanja; Goričar Katja; Bogovič Petra; Turel Gabriele; Strle Franc; Dolžan Vita
    Impact of genetic variability in glucocorticoid pathway in COVID-19 patients on treatment outcome
    2022
  9. Atanasovska-Velkovska Makedonka; Blagus Tanja; Goričar Katja; Cvenkel Barbara; Dolžan Vita
    Inflammation and oxidative stress related biomarkers of response to treatment with selective laser trabeculoplasty in primary open-angle glaucoma and ocular hypertension
    2022
  10. Redenšek Trampuž Sara; Cvetkoska Aspasija; Dolžan Vita; Marinko Tanja; Goričar Katja
    Genetic variability and expression of miR-21 and miR-34a as biomarkers of cardiotoxicity after radiotherapy in breast cancer
    2022
  11. Vogrinc David; Goričar Katja; Čučnik Saša; Emeršič Andreja; Gregorič Kramberger Milica; Dolžan Vita
    Polymorphisms in oxidative stress response genes as biomarkers in Alzheimer’s disease
    2022
  12. Blagus Tanja; Dolžan Vita
    Implementation of panel pharmacogenomics testing
    2022
  13. Goričar Katja; Marinko Tanja; Dolžan Vita
    Pharmacogenomic and epigenomic biomarkers in radiotherapy
    2022
  14. Vogrinc David; Goričar Katja; Čučnik Saša; Emeršič Andreja; Gregorič Kramberger Milica; Dolžan Vita
    Genetic variability of oxidative stress response in Alzheimer’s disease
    2022
  15. Urh Kristian; Zidar Nina; Boštjančič Emanuela
    Identification and validation of stem cell-related genes in colorectal cancerogenesis
    2022
  16. Šuštar Urša; Mlinarič Matej; Kovač Jernej; Sedej Katarina; Jenko Bizjan Barbara; Trebušak Podkrajšek Katarina; Battelino Tadej; Grošelj Urh
    Universal hypercholesterolemia screening in pre-school children
    2022
  17. Pužar Dominkuš Pia; Mesić Aner; Hudler Petra
    PLK2 haplotype and miR-23b-5p as potential biomarkers in gastric cancer
    2022
  18. Šalamon Arčan Iris; Kouter Katarina; Zupanc Tomaž; Videtič Paska Alja
    Do epigenetic changes contribute to suicidality?
    2022
  19. Hadalin Vlasta; Buscarino Maša Marija; Sajovic Jana; Meglič Andrej; Volk Marija; Hawlina Marko; Fakin Ana
    RPGR retinopathy in female carriers
    2022
  20. Zupan Andrej; Salapura Vladka; Šekoranja Daja; Pižem Jože
    Whole transcriptome sequencing reveals novel PNISR-GRM1 gene fusion in chondromyxoid fibroma
    2022
  21. Šantek Iva; Serša Gregor; Markelc Boštjan
    Tumor irradiation leads to transcriptional changes in tumor endothelial cells in mice
    2022
  22. Modic Živa; Jesenko Tanja; Kranjc Brezar Simona; Markelc Boštjan; Serša Gregor; Čemažar Maja
    Establishment, characterization, and transcriptome analysis of HPV-positive mouse model of oral squamous cell carcinoma
    2022
  23. Božič Tim; Kozjek-Mencinger Lucija; Kranjc Brezar Simona; Serša Gregor; Šantek Iva; Čemažar Maja; Markelc Boštjan
    Radiotherapy and gene electrotransfer of plasmid DNA encoding chemokines CCL5 and CCL17 elicit immunomodulatory effects in murine tumors
    2022
  24. Goričar Katja; Marinko Tanja; Dolžan Vita
    Biomarkers of radiotherapy response in breast cancer reporter genes in two murine tumor cell lines in vitro
    2022
  25. Komel Tilen; Bošnjak Maša; Serša Gregor; Čemažar Maja
    Concomitant gene electrotransfer of plasmids encoding GFP and DsRed reporter genes in two murine tumor cell lines in vitro
    2022
  26. Kuret Tadeja; Zottel Alja; Strle Igor; Zupančič Daša; Romih Rok
    Multimodal approach to study the expression of the sensory proteins P2X and TRPV in urinary bladder cancer
    2022
  27. Ravnik-Glavač Metka; Goričar Katja; Vogrinc David; Koritnik Blaž; Lavrenčič Jakob Gašper; Glavač Damjan; Dolžan Vita
    Common genetic polymorphisms as clinical modifiers of amyotrophic lateral sclerosis
    2022
  28. Kamenšek Urška; Jesenko Tanja; Čemažar Maja; Kos Špela; Markelc Boštjan; Kranjc Brezar Simona; Žnidar Katarina; Modic Živa; Komel Tilen; Reberšek Eva; Jakopič Helena; Gorše Tim; Serša Gregor
    Gene electrotransfer for vaccination against COVID-19
    2022
  29. Markelc Boštjan; Jesenko Tanja; Čemažar Maja; Krnjak Kristina; Serša Gregor
    Determination of SARS-CoV-2 virus tropism for human endothelial cells
    2022
  30. Štampar Patricija; Blagus Tanja; Goričar Katja; Bogovič Petra; Turel Gabriele; Strle Franc; Dolžan Vita
    Genetic variability in the glucocorticoids pathway affect disease severity of COVID-19 patients
    2022
  31. Redenšek Trampuž Sara; Vogrinc David; Goričar Katja; Dolžan Vita
    Neuroinflammation related miRNAs as an overlapping feature of COVID-19 and neurodegeneration
    2022
  32. Korva Miša; Knap Nataša; Resman Rus Katarina; Zakotnik Samo; Suljič Alen; Kogoj Rok; Avšič-Županc Tatjana
    From genotype to phenotype
    2022
  33. Matjašič Alenka; Wechtersbach Karmen; Kavalar Rajko; Voršič Matjaž; Mlakar Jernej; Ravnik Janez; Popović Mara
    Next-generation sequencing based clonality testing enables detection of clonal nature of B-lymphocytes in B-cell perivascular proliferation of brain aggregoma
    2022
  34. Debeljak Jerneja; Korošec Peter; Šelb Julij; Rijavec Matija; Košnik Mitja; Lunder Mojca
    Implementation of experimental and bioinformatic approaches for identification of yellow jackets' major venom allergen Ves v 5 epitopes
    2022
  35. Rupar Nina; Šelb Julij; Košnik Mitja; Korošec Peter; Zidarn Mihaela; Andrejević Slađana; Rijavec Matija
    Variant in CC2D2B gene influences the appearance of symptoms in patients with hereditary angioedema due to C1 inhibitor deficiency
    2022
  36. Svetina Manca; Košnik Mitja; Eržen Renato; Kopač Peter; Korošec Peter; Rijavec Matija
    Increased gene expression of IL1R2 MMP9 and OSM during anaphylaxis
    2022
  37. Janev Aleksandar; Železnik Ramuta Taja; Erdani-Kreft Mateja
    Human amniotic membrane preparations promote cell detachment and inhibit cell migration by suppressing focal adhesion kinase signalling
    2022
  38. Hrovat Katja; Molan Katja; Seme Katja; Ambrožič Jerneja
    Genotyping of extended-spectrum [beta]-lactamase-producing Escherichia coli from lower respiratory tract the Central Slovenia region
    2022
  39. Goričar Katja
    ESHG Pharmacogenetics Course
    2022
  40. Zorc Minja; Dovč Peter
    Proceedings of Genetika 2022
    2022
  41. Germain Dominique P.; Altarescu Gheona; Barriales-Villa Roberto; Mignani Renzo; Krzysztof Pawlaczyk; Pieruzzi Federico; Terryn Wim; Vujkovac Bojan; Ortiz Alberto
    An expert consensus on practical clinical recommendations and guidance for patients with classic Fabry disease
    2022
  42. Šuštar Urša; Kordonouri Olga; Mlinarič Matej; Kovač Jernej; Arens Stefan; Sedej Katarina; Jenko Bizjan Barbara; Trebušak Podkrajšek Katarina; Danne Thomas; Battelino Tadej; Grošelj Urh
    Universal screening for familial hypercholesterolemia in 2 populations
    2022
  43. Marmolejo David Humberto; Zheng Wong Mark Yu; Bajalica-Lagercrantz Svetlana; Tischkowitz Marc; Balmaña Judith; Balázs Patócs Attila; Colas Chrystelle; Genuardi Maurizio; Klink Barbara; Krajc Mateja
    Overview of hereditary breast and ovarian cancer (HBOC) guidelines across Europe
    2021
  44. Battelino Saba
    Genetics of Slovenian cochlear implants users
    2022
  45. Šalamon Arčan Iris; Kouter Katarina; Videtič Paska Alja
    Depressive disorder and antidepressants from an epigenetic point of view
    2022
  46. Šuligoj Ariana; Mesesnel Sara; Leskovar Tamara; Podovšovnik Eva; Zupanič-Pajnič Irena
    Comparison of DNA preservation between adult and non-adult ancient skeletons
    2022
  47. Šuštar Urša; Grošelj Urh; Khan Sabeen; Shafi Saeed; Iqbal Khan M.; Kovač Jernej; Jenko Bizjan Barbara; Battelino Tadej; Sadiq Fouzia
    A homozygous variant in the GPIHBP1 gene in a child with severe hypertriglyceridemia and a systematic literature review
    2022
  48. Močnik Mirjam; Zagradišnik Boris; Marčun-Varda Nataša
    Assessing 48 SNPs in hypertensive paediatric patients and young adults with review of genetic background of essential hypertension
    2022
  49. Tsermpini Evangelia Eirini; Glamočlija Una; Ulucan-Karnak Fulden; Redenšek Trampuž Sara; Dolžan Vita
    Molecular mechanisms related to responses to oxidative stress and antioxidative therapies in COVID-19
    2022
  50. Vogrinc David; Goričar Katja; Gregorič Kramberger Milica; Dolžan Vita
    Genetic variability of inflammation and oxidative stress in Alzheimer’s disease biomarkers
    2022
  51. Pereza Nina; Terzić Rifet; Plašeska Karanfilska Dijana; Miljanović Olivera; Novaković Ivana; Poslon Željka; Ostojić Saša; Peterlin Borut
    Current state of compulsory basic and clinical courses in genetics for medical students at medical faculties in Balkan countries with Slavic languages
    2022
  52. Tobias Edward; Avram Elena; Calapod Patricia; Cordier Christophe; Den Dunnen Johan T.; Ding Can; Dolžan Vita; Douzgou Houge Sofia; Lynch Sally Ann; O'Byrne James
    The role of the European Society of Human Genetics in delivering genomic education
    2022
  53. Machado Rajiv D; Welch Carrie L; Haimel Matthias; Bleda Marta; Colglazier Elizabeth; Coulson John D; Debeljak Maruša; Ekstein Josef; Fineman Jeffery R; Golden William Christopher; Vesel Samo
    Biallelic variants of ATP13A3 cause dose-dependent childhood-onset pulmonary arterial hypertension characterised by extreme morbidity and mortality
    2022
  54. Levstek Tina; Podkrajšek Nik; Sotlar Inge; Rehberger Likozar Andreja
    No effect of CRP rs1800947, TNF-α rs1800629 and IL6 rs1800795 polymorphisms on plasma levels of inflammatory markers after treatment with PCSK9 inhibitors
    2022
  55. Tsermpini Evangelia Eirini; Plemenitaš Ilješ Anja; Dolžan Vita
    Alcohol-induced oxidative stress and the role of antioxidants in alcohol use disorder
    2022
  56. Šuštar Urša; Grošelj Urh; Trebušak Podkrajšek Katarina; Mlinarič Matej; Kovač Jernej; Thaler Martin; Drole Torkar Ana; Skarlovnik Ajda; Battelino Tadej; Hovnik Tinka
    Early discovery of children with lysosomal acid lipase deficiency with the Universal Familial Hypercholesterolemia Screening Program
    2022
  57. Gorenc Nika; Kregar-Velikonja Nevenka
    Genetski dejavniki zdravega staranja
    [Genetic factors for healthy ageing]
    2022
  58. Illini Oliver; Fabikan Hannah; Swalduz Aurélie; Vikström Anders; Krenbek Dagmar; Schumacher Michael; Dudnik Elizabeth; Studnicka Michael; Öhman Ronny; Wurm Robert; Čufer Tanja; Mohorčič Katja; Hochmair Maximilian J
    Real-world experience with capmatinib in MET exon 14-mutated non-small cell lung cancer (RECAP)
    2022
  59. Kavčič Niko; Perić Ivan; Zagorac Andreja; Kokalj-Vokač Nadja
    Clinical evaluation of two non-invasive genetic tests for detection and monitoring of urothelial carcinoma: validation of UroVysion and Xpert Bladder Cancer Detection Test
    2022
  60. Bombač Alenka; Zakotnik Branko; Bučić Marina; Šetrajčič Dragoš Vita; Gazić Barbara; Stegel Vida; Klančar Gašper; Novaković Srdjan
    Mutational spectrum and classification of novel mutations in patients with metastatic gastrointestinal stromal tumours
    2020
  61. Brakebusch Cord; Pihlajaniemi Taina
    Mouse as a model organism
    2011
  62. Hrabě de Angelis Martin; Chambon Jean-Pierre; Brown Stephen D.
    Standards of mouse model phenotyping
    2006
  63. Morgan Hugh; Beck Tim; Blake Andrew; Gates Hilary; Adams Niels C.; Debouzy Guillaume; Leblanc Sophie; Lengger Christoph; Maier Holger; Hancock John M.
    EuroPhenome
    2010
  64. Blake Andrew; Pickford Karen; Greenaway Simon; Thomas Steve; Pickard Amanda; Williamson Christine M.; Adams Niels C.; Walling Alison; Beck Tim; Hancock John M.
    MouseBook
    2010
  65. Hancock John M.; Adams Niels C.; Aidinis Vassilis; Blake Andrew
    Integration of mouse phenome data resources
    2007
  66. Swertz Morris A.; Hancock John M.
    Towards dynamic database infrastructures for mouse genetics
    2008
  67. Brown Steve D. M.; Hancock John M.
    The mouse genome
    2006
  68. Volff Jean-Nicolas
    Vertebrate genomes
    2006
  69. Hancock John M.
    Mouse genetic and phenotypic resources as tools for human genetics
    2013
  70. Kouter Katarina; Alič Urban; Zupanc Tomaž; Videtič Paska Alja
    Suicidal behaviour and epigenetics
    2022
  71. Pommier Cyril; Gruden Kristina; Junker Astrid; Coppens Frederik; Finkers Richard; Hassani-Pak Keywan; Faria Daniel; Hancock John M.
    ELIXIR plant sciences 2020-2023 roadmap
    2021
  72. Brown Steve D. M.; Wurst Wolfgang; Kühn Ralf; Hancock John M.
    The functional annotation of mammalian genomes
    2009
  73. Mallon Ann-Marie; Blake Andrew; Hancock John M.
    EuroPhenome and EMPReSS
    2008
  74. Brown Steve D. M.; Hancock John M.; Gates Hilary
    Understanding mammalian genetic systems
    2006
  75. Hancock John M.
    Gene factories, microfunctionalization and the evolution of gene families
    2005
  76. Hancock John M.; Vogler Alfried P.
    How slippage-derived sequences are incorporated into rRNA variable-region secondary structure
    2000
  77. Jackson Michael S.; Strachan Tom; Dover Gabriel A.
    Human genome evolution
    1996
  78. Hancock John M.
    Simple sequences in a "minimal' genome
    1996
  79. Hancock John M.
    Phenomics
    2014
  80. Miroševič Špela; Klemenc-Ketiš Zalika; Peterlin Borut
    Family history tools for primary care
    2022
  81. Annual review of genetics
    1967
  82. Genetica
    1919
  83. Zajec Ana; Trebušak Podkrajšek Katarina; Tesovnik Tine; Šket Robert; Čugalj Kern Barbara; Jenko Bizjan Barbara; Šmigoc Schweiger Darja; Battelino Tadej; Kovač Jernej
    Pathogenesis of type 1 diabetes
    2022
  84. Čugalj Kern Barbara; Trebušak Podkrajšek Katarina; Kovač Jernej; Šket Robert; Jenko Bizjan Barbara; Tesovnik Tine; Debeljak Maruša; Battelino Tadej; Bratina Nataša
    The role of epigenetic modifications in late complications in type 1 diabetes
    2022
  85. Glavač Damjan; Ravnik-Glavač Metka; Pfeifer Marija; Flisar Dušan; Novak-Andrejčič Katrina; Hawlina Marko
    Novel mutations and genotype-phenotype correlations in Slovenian Von Hippel-Lindau (VHL) disease patients
    2021
  86. Videtič Paska Alja; Alič Urban; Zupanc Tomaž; Kouter Katarina
    Suicide and changes in expression of neuronal mirna predicted by an algorithm search through miRNA databases
    2022
  87. Tsermpini Evangelia Eirini; Alda Martin; Patrinos George P.
    Psychiatric genomics
    2022
  88. Gorenjak Mario; Fijačko Nino; Marko Pij B.; Živanović Milanka; Potočnik Uroš
    De novo mutation in KITLG gene causes a variant of Familial Progressive Hyper-and Hypo-pigmentation (FPHH)
    2021
  89. Kozar Nejc; Kovač Vilma; Reljič Milan
    Can methods of artificial intelligence aid in optimizing patient selection in patients undergoing intrauterine inseminations?
    2021
  90. Redenšek Sara; Trošt Maja; Dolžan Vita
    Effects of genetic variability in dopaminergic pathway on treatment response in Parkinson's disease
    2018
  91. Kouter Katarina; Zupanc Tomaž; Videtič Paska Alja
    Targeted sequencing approach
    2022
  92. Edgar Laurienne; Akbar Naveed; Braithwaite Adam T.; Krausgruber Thomas; Gallart-Ayala Héctor; Bailey Jade; Corbin Alastair L.; Khoyratty Tariq E.; Chai Joshua T.; Žiberna Klemen
    Hyperglycemia induces trained immunity in macrophages and their precursors and promotes atherosclerosis
    2021
  93. Sajovic Jana; Meglič Andrej; Corradi Zelia; Khan Mubeen; Cremers Frans; Dhaenens Claire-Marie; Jarc-Vidmar Martina; Glavač Damjan; Maver Aleš; Volk Marija; Peterlin Borut; Hawlina Marko; Fakin Ana
    Insights into the pathogenesis of Stargardt disease associated with splicing mutation c.5714+5G>A in ABCA4 gene
    2021
  94. Cimaz Rolando
    Periodic and non-periodic fevers
    2020
  95. Tsermpini Evangelia Erini; Redenšek Sara; Dolžan Vita
    Genetic factors associated with tardive dyskinesia
    2022
  96. Mullins Niamh; Forstner Andreas J; O'Connell Kevin S; Coombes Brandon; Tsermpini Evangelia Erini
    Genome-wide association study of more than 40,000 bipolar disorder cases provides new insights into the underlying biology
    2021
  97. Mullins Niamh; Kang JooEun; Campos Adrian I.; Coleman Jonathan R.I.; Tsermpini Evangelia Erini
    Dissecting the shared genetic architecture of suicide attempt, psychiatric disorders, and known risk factors
    2022
  98. Patrinos George P.; Innocenti Federico; Schaik Ron H. N. van
    Golden Helix Summer School 2018 - Rare Genomics
    2018
  99. Panagiotara Angeliki; Skoufas Efthymios; Chalikiopoulou Constantina; Tsermpini Evangelia Erini; Bartsakoulia Marina; Katsila Theodora; Patrinos George P.
    Implementation of genomic medicine
    2019
  100. Barba Evaggelia; Tsermpini Evangelia Erini; Patrinos George P.; Koromina Maria
    Genome informatics pipelines and genome browsers
    2020

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