biomedicina slovenica


"Genetics" : 2084

  1. Karouzakis Emmanuel; Frank Bertoncelj Mojca; Klein Kerstin; Kolling Christoph; Gay Renate E.; Gay Steffen; Ospelt Caroline
    DNA methylation defines joint specific differences in synovial fibroblasts from OA and RA patients
    2016
  2. Frank Bertoncelj Mojca; Filkova Maria; Stanczyk Joanna; Connolly Mary; Kolling Christoph; Michel Beat A.; Rozman Blaž; Gay Renate E.; Gay Steffen; Jüngel Astrid
    Epigenetically regulated microRNA-126 influences migratory potential and apoptosis of synovial fibroblasts in rheumatoid arthritis
    2011
  3. Trenkmann Michelle; Brock M.; Frank Bertoncelj Mojca; Gay Renate E.; Michel Beat A.; Huber L. C.; Gay Steffen
    Epigenetic repression of the long noncoding Rna hotair regulates NF-KB signalling and the expression of matrix metalloproteases in synovial fibroblasts
    2013
  4. Ospelt Caroline; Frank Bertoncelj Mojca
    New insights into site-specific variations in RA and OA
    2016
  5. Frank Bertoncelj Mojca; Klein Kerstin; Gay Steffen
    Interplay between genetic and epigenetic mechanisms in rheumatoid arthritis
    2017
  6. Grk M. B.; Jekić Biljana; Milić Vera; Dolžan Vita; Maksimović Nina; Damjanović T.; Dušanović Pjević M.; Pešić Maja
    Association of ADORA3 gene polymorphisms with efficacy and toxicity of methotrexate
    2018
  7. Dolžan Vita; Blagus Tanja; Redenšek Sara; Goričar Katja; Soldat Savica; Mlinšek Gregor; Vivod Pečnik Živka; Mazej Poredoš Barbara; Škrinjar Andrej; Zidanšek Anja; Rajter Branka; Čauš Azra; Jeras K.; Saje Marko; Klen Jasna; Juteršek M.; Kolšek-Šušteršič Maja; Poplas-Susič Tonka; Prica Mojca; Stegne Ignjatović Tea; Jakopič Žlahtič R.; Terzič Tea; Vrbnjak Marko; Bokalič Melita; Bukovec Lenart; Rus-Makovec Maja; Kokot Simona; Doblekar S.; Verboten Kopriva R.; Ejupi Betim; Kores-Plesničar Blanka
    PREemptive pharmacogenomic testing for preventing adverse drug reactions (PREPARE) study
    2018
  8. Blagus Tanja; Soldat Savica; Goričar Matej; Goričar Katja; Redenšek Sara; Dolžan Vita; Konta Lidija
    Genotyping approach supporting pre-emptive pharmacogenomics testing
    2018
  9. Redenšek Sara; Trošt Maja; Dolžan Vita
    The effect of inflammation-related genetic polymorphisms on the occurrence of non-motor adverse events of dopaminergic treatment in Parkinson's disease
    2018
  10. Goričar Katja; Kovač Viljem; Dolžan Vita
    Immune checkpoints PD-1 and PD-L1 polymorphisms and outcome of cisplatin-based chemotherapy in malignant mesothelioma
    2018
  11. Krgović Danijela; Stangler Herodež Špela; Marčun-Varda Nataša; Zagradišnik Boris; Zagorac Andreja; Erjavec Škerget Alenka; Kokalj-Vokač Nadja
    Congenital heart defects in patient with new KMT2D frameshift mutation
    2018
  12. Vokač Damijan; Stangler Herodež Špela; Krgović Danijela; Kokalj-Vokač Nadja
    Patient with recurrent ventricular fibrillation and polymorphic nonsustained ventricular tachycardia with mutation in MYLK2 gene
    2018
  13. Zagorac Andreja; Golub A.; Zagradišnik Boris; Erjavec Škerget Alenka; Mujezinović Faris; Kavalar Rajko; Kokalj-Vokač Nadja
    Hypoplastic left heart syndrome in a male fetus with 45,X/46,X,i(Y)(p10)/47,X,i(Y)(p10),+i(Y)(p10)/46,XY mosaicism
    2018
  14. Trebušak Podkrajšek Katarina; Obreza Tamara; Kovač Jernej; Bertok Sara; Battelino Tadej; Battelino Saba
    Genetic testing of hearing loss related genes in Slovene patients with next generation sequencing
    2018
  15. The ESHG 2018 programme
    2018
  16. Zottel Alja; Šamec Neja; Vidak Marko; Jovchevska Ivana
    From basic glioblastoma proteomics to promising diagnostic and therapeutic tools
    2018
  17. Uršič Katarina; Zupanc Tomaž; Videtič Paska Alja
    Genetics and epigenetics of suicide in Slovenia
    2018
  18. Vander Poorten Vincent; Triantafyllou Asterios; Skálová Alena; Stenman Göran; Bishop Justin A.; Hauben Esther; Hunt Jennifer L.; Hellquist Henrik; Feys Simon; Strojan Primož
    Polymorphous adenocarcinoma of the salivary glands
    2018
  19. Filbin Mariella G.; Tirosh Itay; Horvestadt Volker; McKenzie Shaw L.; Escalante Leah E.; Mathewson Nathan D.; Neftel Cyril; Frank Nelli; Pelton Kristine; Popović Mara
    Developmental and oncogenic programs in H3K27M gliomas dissected by single-cell RNA-seq
    2018
  20. Jovchevska Ivana
    Sequencing the next generation of glioblastomas
    2018
  21. Velnar Tomaž; Bunc Gorazd; Maver Uroš; Gradišnik Lidija
    A review of the degenerative intervertebral disc disease
    2017
  22. Vrabec Katarina; Boštjančič Emanuela; Koritnik Blaž; Leonardis Lea; Dolenc-Grošelj Leja; Zidar Janez; Rogelj Boris; Glavač Damjan; Ravnik-Glavač Metka
    Differential expression of several miRNAs and the host genes AATK and DNM2 in leukocytes of sporadic ALS patients
    2018
  23. Kovanda Anja; Leonardis Lea; Zidar Janez; Koritnik Blaž; Dolenc-Grošelj Leja; Ristić Kovačič Stanislava; Curk Tomaž; Rogelj Boris
    Differential expression of microRNAs and other small RNAs in muscle tissue of patients with ALS and healthy age-matched controls
    2018
  24. Tumienè Birutè; Maver Aleš; Writzl Karin; Hodžić Alenka; Čuturilo Goran; Kuzmanić-Šamija Radenka; Čulić Vida; Peterlin Borut
    Diagnostic exome sequencing of syndromic epilepsy patients in clinical practice
    2018
  25. Journal of applied genetics
    2010
  26. Glavač Damjan; Delser Pierpaolo Maisano; Mezzavilla Massimo
    Genetic landscape of Slovenians
    2018
  27. Lovrečić Luca; Rajar Polona; Volk Marija; Bertok Sara; Gnidovec Stražišar Barbara; Osredkar Damjan; Jekovec-Vrhovšek Maja; Peterlin Borut
    Diagnostic efficacy and new variants in isolated and complex autism spectrum disorder using molecular karyotyping
    2018
  28. Štimpfel Martin; Jančar Nina; Virant-Klun Irma
    New challenge
    2018
  29. Journal of Applied Genetics
    1995
  30. Jenko Barbara; Tomšič Matija; Jekić Biljana; Milić Vera; Dolžan Vita; Praprotnik Sonja
    Clinical pharmacogenetic models of treatment response to methotrexate monotherapy in Slovenian and Serbian rheumatoid arthritis patients
    2018
  31. Zagradišnik Boris; Krgović Danijela; Stangler Herodež Špela; Zagorac Andreja; Čizmarevič Bogdan; Kokalj-Vokač Nadja
    Identification of genomic copy number variations associated with specific clinical features of head and neck cancer
    2018
  32. Vrečar Irena; Hristovski Dimitar; Peterlin Borut
    Telegenetics
    2017
  33. Starčič Erjavec Marjanca
    Proceedings
    2017
  34. Mencin Iva; Kristan Aleša; Prijatelj Tinkara; Vočanec Danijela; Fink Martina; Pajič Tadej; Preložnik-Zupan Irena; Kunej Tanja; Debeljak Nataša
    Identification of sequence variants associated with familial erythrocytosis in EPO, EPOR, EPAS1 and VHL genes
    2017
  35. Hadžić-Metjahić N.; Vidovič Maruška; Čakar Jasmina; Džehverović M; Pilav A.; Marjanović Damir
    Comparative molecular genetic analysis of the isolated Bosnian-Herzegovinina and Slovenian populations
    2017
  36. Matjašič Alenka; Popović Mara; Glavač Damjan
    Aberrant epigenetic network of lncRNAS AND mRNAS in glioma development and progression
    2017
  37. Cilenšek Ines; Hercegovac Amela; Terzić Rifet; Globočnik Petrovič Mojca; Petrovič Danijel
    Polymorphisms of interleukin-8 (rs2227543, rs4073) and -18 (rs1946518, rs187238) genes and diabetic retinopathy
    2011
  38. Lozar Krivec Jana; Stepić Maja; Hovnik Tinka; Krsnik Mladen; Paro Panjan Darja
    Neonatal cyanosis due to hemoglobin variant
    2016
  39. Kasparian Nadine A.; Bränström Richard; Chang Yu-Mei; Affleck Paul; Aspinwall Lisa G.; Tibben Aad; Azizi Esther; Bergman Wilma; Hočevar Marko; Perić Barbara
    Skin examination behavior
    2012
  40. Bajželj Matija; Zupanič-Pajnič Irena
    Genetska identifikacija pogrešanih oseb
    [Missing persons genetic identification]
    2017
  41. Redenšek Sara; Dolžan Vita
    Pharmacogenetics of psoriasis treatment
    2017
  42. Dežman Katarina; Korošec Peter; Rupnik Helena; Rijavec Matija
    SPINK5 is associated with early-onset and CHI3L1 with late-onset atopic dermatitis
    2017
  43. Rijavec Matija; Maver Aleš; Hočevar Keli; Šilar Mira; Košnik Mitja; Peterlin Borut; Korošec Peter
    Transcriptome analysis in human anaphylaxis
    2017
  44. Šelb-Šemerl Jožica; Planinšek Ručigaj Tanja; Rijavec Matija; Šilar Mira; Korošec Peter
    Diagnostic value of NGS for primary lymphedema in Slovene patients
    2017
  45. The ESHG 2017 programme
    2017
  46. Matjašič Alenka; Popović Mara; Matos Boštjan; Glavač Damjan
    Expression of LOC285758, a potential long non-coding biomarker, is methylation- dependent and correlates with glioma malignancy grade
    2017
  47. Reljič Milan; Knez Jure; Kovač Vilma; Kovačič Borut
    Endometrial injury, the quality of embryos, and blastocyst transfer are the most important prognostic factors for in vitro fertilization success after repeated unsuccessful attempts
    2017
  48. Paděrová J.; Holubová A.; Simandlová M.; Puchmajerová A.; Vlčková M.; Malíková M.; Pourová R.; Vejvalková S.; Maver Aleš
    Molecular genetic analysis in 14 Czech Kabuki syndrome patients is confirming the utility of phenotypic scoring
    2017
  49. Maver Aleš; Lavtar Polona; Ristić Smiljana; Stopinšek Sanja; Simčič Saša; Hočevar Keli; Sepčić Juraj; Drulovic Jelena; Pekmezović Tatjana; Novaković Ivana; Hodžić Alenka; Rudolf Gorazd; Šega Saša; Starčević-Čizmarević Nada; Palandačić Anja; Zamolo Gordana; Kapović Miljenko; Likar Tina; Peterlin Borut
    Identification of rare genetic variation of NLRP1 gene in familial multiple sclerosis
    2017
  50. Biomedical genetics and genomics
    2016
  51. Kovač Jernej; Klančar Gašper; Trebušak Podkrajšek Katarina; Battelino Saba
    Discovering the unexpected with the utilization of NGS in diagnostics of non-syndromic hearing loss disorders
    2017
  52. Vranič Andrej; Peyre Matthieu; Kalamarides Michel
    New insights into meningioma
    2012
  53. Jalovec Viktorija; Kregar-Velikonja Nevenka; Peterlin Borut
    Medicinska sestra v vlogi genomskega informatorja
    [A nurse in the role of genomic informer]
    2017
  54. Rozman Jasmina Živa; Pohar Perme Maja; Jež Mojca; Maličev Elvira; Krašna Metka; Vrtovec Bojan; Rožman Primož
    DNA methylation and hydroxymethylation Profile of CD34+-enriched cell products intended for autologous CD34+ cell transplantation
    2017
  55. Ristić Smiljana; Starčević-Čizmarević Nada; Lavtar Polona; Lovrečić Luca; Perković Olivio; Sepčić Juraj; Šega Saša; Kapović Miljenko; Peterlin Borut
    Angiotensin-converting enzyme insertion/deletion gene polymorphism and interferon-[beta] treatment response in multiple sclerosis patients
    2017
  56. G3
    2011
  57. Horvat Matej; Potočnik Uroš; Repnik Katja; Kavalar Rajko; Zadnik Vesna; Potrč Stojan; Štabuc Borut
    Single nucleotide polymorphisms in genes MACC1, RAD18, MMP7 and SDF-1[alpha] as prognostic factors in resectable colorectal cancer
    2017
  58. Stavber Lana; Bertok Sara; Kovač Jernej; Volk Marija; Lovrečić Luca; Battelino Tadej; Hovnik Tinka
    Characterization of a de novo sSMC 17 detected in a girl with developmental delay and dysmorphic features
    2017
  59. Goričar Katja; Kovač Viljem; Dolžan Vita
    Clinical-pharmacogenetic models for personalized cancer treatment
    2017
  60. Južnič Šetina Tanja; Jezeršek Novaković Barbara
    Izhod zdravljenja bolnikov s folikularnimi limfomi v Sloveniji
    2016
  61. Žagar Tina; Dolžan Vita
    Polimorfizmi izbranih genov serotoninske poti pri žrtvah samomora v Sloveniji
    [Polymorphic genes of serotonergic system in suicide victims in Slovenia]
    2016
  62. Bremec Matejka; Avšič-Županc Tatjana
    Molekularna filogenija patogenih in nepatogenih hantavirusov v Sloveniji
    [Phylogenetic diversity of pathogenic and non-pathogenic hantaviruses in Slovenia]
    2016
  63. Prah Janja; Tomažič Janez
    Vpliv polimorfizmov v genih za OPG in RANKL na mineralno kostno gostoto pri bolnikih, okuženih s HIV
    2016
  64. Krsteski Jovan; Jurgec Staša; Pakiž Maja; But Igor; Potočnik Uroš
    Polymorphism of the IL13 gene may be associated with uterine leiomyomas in Slovenian women
    2016
  65. Repnik Katja; Potočnik Uroš
    eQTL analysis links inflammatory bowel disease associated 1q21 locus to ECM1 gene
    2016
  66. Petrovski Goran; Kaarniranta Kai; Petrovič Danijel
    Oxidative stress, epigenetics, environment, and epidemiology of diabetic retinopathy
    2017
  67. Peterlin Borut; Maver Aleš; Vidmar Lovro; Lovrečić Luca
    Genetics and epigenetics of multiple sclerosis
    2017
  68. Stefanska Barbara; MacEwan David J.
    Epigenetics and gene expression in cancer, inflammatory and immune diseases
    2017
  69. Stegel Vida; Škerl Petra; Krajc Mateja; Blatnik Ana; Novaković Srdjan
    Non-BRCA mutations in HBOC families
    2016
  70. Magiorkinis Gkikas; Angelis Konstantinos; Mamais Ioannis; Katzourakis Aris; Hatzakis Angelos; Albert Jan; Lawyer Glenn; Hamouda Osamah; Struck Daniel; Poljak Mario
    The global spread of HIV-1 subtype B epidemic
    2016
  71. Rijavec Matija
    Insights into the genetics of Hereditary angioedema
    2016
  72. Devjak Rok; Burnik Papler Tanja; Verdenik Ivan; Fon Tacer Klementina; Vrtačnik-Bokal Eda
    Embryo quality predictive models based on cumulus cells gene expression
    2016
  73. Potočnik Uroš; Repnik Katja; Ramšak Andreja
    Proceedings
    2016
  74. Korošec Sara; Ban Helena; Steblovnik Lili; Verdenik Ivan; Vrtačnik-Bokal Eda
    Independent factors influencing large-for-gestation birth weight in singletons born after in vitro fertilization
    2016
  75. Lutz Sharon M.; Cho Michael H.; Young Kendra; Hersh Craig P.; Castaldi Peter J.; McDonald Merry-Lynn N.; Regan Elizabeth; Mattheisen Manuel; DeMeo Dawn L.; Parker Margaret; Košnik Mitja
    A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry
    2015
  76. Maver Aleš; Lovrečić Luca; Volk Marija; Rudolf Gorazd; Writzl Karin; Blatnik Ana; Hodžić Alenka; Peterlin Borut
    Phenotype-driven gene target definition in clinical genome-wide sequencing data interpretation
    2016
  77. BMC genetics
    2000
  78. Balestrini Simona; Milh Mathieu; Castiglioni Claudia; Lüthy Kevin; Finelli Mattea J.; Verstreken Patrik; Cardon Aaron; Gnidovec Stražišar Barbara; Holder J. Lloyd; Lesca Gaetan
    TBC1D24 genotype-phenotype correlation
    2016
  79. Bonnet Crystel; Riahi Zied; Chantot-Bastaraud Sandra; Smagghe Luce; Fakin Ana; Glavač Damjan; Jarc-Vidmar Martina; Zupan Andrej; Battelino Saba; Hawlina Marko
    An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients
    2016
  80. Zupanič-Pajnič Irena; Zupanc Tomaž; Balažic Jože; Geršak Živa Miriam; Stojković Oliver; Skadrić Ivan; Črešnar Matija
    Prediction of autosomal STR typing success in ancient and Second World War bone samples
    2016
  81. Forensic science international
    200?
  82. Popović D.; Nikolajević-Starčević Jovana; Šantl-Letonja Marija; Makuc Jana; Cokan Vujkovac Andreja; Reschner Anca; Bregar Dejan; Petrovič Danijel
    PECAM-1 gene polymorphism (rs668) and subclinical markers of carotid atherosclerosis in patients with type 2 diabetes mellitus
    2016
  83. Gradišnik Peter
    Pregled monogensko dedovanih epilepsij
    [Review of monogenic inherited epilepsies]
    2013
  84. Berce Vojko; Homšak Matjaž; Tomazin Maja; Pinto Kozmus Carina; Potočnik Uroš
    Genetika in farmakogenomika astme ter vpliv gena ORMDL3 na učinek inhalacijskih kortikosteroidov
    [Genetics and pharmacogenomics of asthma and the influence of the ORMDL3 gene on the effect of inhaled corticosteroids]
    2013
  85. Dolinšek Jernej
    Uvodnik
    2013
  86. Dolinšek Jernej; Puklavec Evelin; Zagradišnik Boris
    Genetske preiskave v pediatrični gastroenterologiji
    [Review of monogenic inherited epilepsies [!]]
    2013
  87. Marčun-Varda Nataša
    Genetske raziskave arterijske hipertenzije pri otrocih
    [Genetic research into hypertension in children]
    2013
  88. Bauer Julius
    Vorlesungen über allgemeine Konstitutions- und Vererbungslehre
    1923
  89. Chaitanya Lakshmi; Zupanič-Pajnič Irena; Walsh Susan; Balažic Jože; Zupanc Tomaž; Kayser Manfred
    Bringing colour back after 70 years
    2016
  90. Forensic science international
    2007
  91. Rheenen Wouter van; Shatunov Aleksey; Dekker Annelot M.; McLaughlin Russell L.; Diekstra Frank P.; Pulit Sara L.; van der Spek Rick A. A.; Võsa Urmo; De Jong Simone; Robinson Matthew R.; Rogelj Boris; Vrabec Katarina; Ravnik-Glavač Metka; Koritnik Blaž; Zidar Janez; Leonardis Lea; Dolenc-Grošelj Leja
    Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis
    2016
  92. Jenko Barbara; Dolžan Vita; Praprotnik Sonja
    Klinično farmakogenetski modeli za bolniku prilagojeno zdravljenje revmatoidnega artritisa
    [Clinical pharmacogenetic models for personalized rheumatoid arthritis treatment]
    2016
  93. Trčko Katarina; Poljak Mario
    Klinična, patohistološka in molekularna opredelitev okužb z virusom Molluscum contagiosum v Sloveniji
    [Clinical, patohistological and molecular analysis of infections with Molluscum contagiosum in Slovenia]
    2016
  94. Zadravec Petra; Berlec Aleš
    Razvoj gensko spremenjenih mlečnokislinskih bakterij s sposobnostjo vezave toksina šiga
    2016
  95. Norčič Gregor; Jelenc Franc; Novaković Srdjan
    Določanje prisotnosti krožečih tumorskih celic v periferni krvi bolnikov po RO-resekciji raka debelega črevesa in danke
    2016
  96. Novak Maruša; Sepčić Kristina; Anderluh Gregor
    Biološka vloga ter lastnosti egerolizinov in proteinov z domeno MACPF v nitasti glivi Aspergillus niger
    [Biological role and characterisation of aegerolysins and proteins with MACPF domain in filamentous fungus Aspergillus niger]
    2016
  97. Oštrbenk Anja; Poljak Mario
    Genetska opredelitev in tkivni tropizem kandidatnih izolatov za nove genotipe človeških papilomavirusov v Sloveniji
    2016
  98. Trošt Nuša; Stojan Jure; Fon Tacer Klementina; Križaj Igor
    Vloga proteina [gama]-Klotho v signalni poti fibroblastnega rastnega dejavnika 19 in njegov vpliv na preživetje ter proliferacijo rakavih celic
    [The role of [gamma]-Klotho protein in the signaling pathway of fibroblast growth factor 19 and its effect on survival and proliferation of cancer cells]
    2016
  99. Koren Ana; Čufer Tanja; Korošec Peter
    Pomen tumorskih matičnih celic in epitelno-mezenhimskega prehoda pri napredovanju nedrobnoceličnega raka pljuč
    [The importance of cancer stem cells and epithelial-mesenchymal transition in the progression of non-small cell lung cancer]
    2016
  100. Verbovšek Urška; Lah Turnšek Tamara; Noorden Cornelis J. F. van
    Cathepsin K as a potential tumor marker in glioblastoma multiforme
    2016

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