biomedicina slovenica


"Genetics" : 2044

  1. Redenšek Sara; Dolžan Vita
    Pharmacogenetics of psoriasis treatment
    2017
  2. Dežman Katarina; Korošec Peter; Rupnik Helena; Rijavec Matija
    SPINK5 is associated with early-onset and CHI3L1 with late-onset atopic dermatitis
    2017
  3. Rijavec Matija; Maver Aleš; Hočevar Keli; Šilar Mira; Košnik Mitja; Peterlin Borut; Korošec Peter
    Transcriptome analysis in human anaphylaxis
    2017
  4. Šelb-Šemerl Jožica; Planinšek Ručigaj Tanja; Rijavec Matija; Šilar Mira; Korošec Peter
    Diagnostic value of NGS for primary lymphedema in Slovene patients
    2017
  5. The ESHG 2017 programme
    2017
  6. 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
  7. 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
  8. 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
  9. 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
  10. Biomedical genetics and genomics
    2016
  11. 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
  12. Vranič Andrej; Peyre Matthieu; Kalamarides Michel
    New insights into meningioma
    2012
  13. Jalovec Viktorija; Kregar-Velikonja Nevenka; Peterlin Borut
    Medicinska sestra v vlogi genomskega informatorja
    [A nurse in the role of genomic informer]
    2017
  14. 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
  15. 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
  16. G3
    2011
  17. 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
  18. 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
  19. Goričar Katja; Kovač Viljem; Dolžan Vita
    Clinical-pharmacogenetic models for personalized cancer treatment
    2017
  20. Južnič Šetina Tanja; Jezeršek Novaković Barbara
    Izhod zdravljenja bolnikov s folikularnimi limfomi v Sloveniji
    2016
  21. 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
  22. Bremec Matejka; Avšič-Županc Tatjana
    Molekularna filogenija patogenih in nepatogenih hantavirusov v Sloveniji
    [Phylogenetic diversity of pathogenic and non-pathogenic hantaviruses in Slovenia]
    2016
  23. Prah Janja; Tomažič Janez
    Vpliv polimorfizmov v genih za OPG in RANKL na mineralno kostno gostoto pri bolnikih, okuženih s HIV
    2016
  24. 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
  25. Repnik Katja; Potočnik Uroš
    eQTL analysis links inflammatory bowel disease associated 1q21 locus to ECM1 gene
    2016
  26. Petrovski Goran; Kaarniranta Kai; Petrovič Danijel
    Oxidative stress, epigenetics, environment, and epidemiology of diabetic retinopathy
    2017
  27. Peterlin Borut; Maver Aleš; Vidmar Lovro; Lovrečić Luca
    Genetics and epigenetics of multiple sclerosis
    2017
  28. Stefanska Barbara; MacEwan David J.
    Epigenetics and gene expression in cancer, inflammatory and immune diseases
    2017
  29. Stegel Vida; Škerl Petra; Krajc Mateja; Blatnik Ana; Novaković Srdjan
    Non-BRCA mutations in HBOC families
    2016
  30. 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
  31. Rijavec Matija
    Insights into the genetics of Hereditary angioedema
    2016
  32. Devjak Rok; Burnik Papler Tanja; Verdenik Ivan; Fon Tacer Klementina; Vrtačnik-Bokal Eda
    Embryo quality predictive models based on cumulus cells gene expression
    2016
  33. Potočnik Uroš; Repnik Katja; Ramšak Andreja
    Proceedings
    2016
  34. 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
  35. 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
  36. 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
  37. BMC genetics
    2000
  38. 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
  39. 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
  40. 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
  41. Forensic science international
    200?
  42. 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
  43. Gradišnik Peter
    Pregled monogensko dedovanih epilepsij
    [Review of monogenic inherited epilepsies]
    2013
  44. 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
  45. Dolinšek Jernej
    Uvodnik
    2013
  46. Dolinšek Jernej; Puklavec Evelin; Zagradišnik Boris
    Genetske preiskave v pediatrični gastroenterologiji
    [Review of monogenic inherited epilepsies [!]]
    2013
  47. Marčun-Varda Nataša
    Genetske raziskave arterijske hipertenzije pri otrocih
    [Genetic research into hypertension in children]
    2013
  48. Bauer Julius
    Vorlesungen über allgemeine Konstitutions- und Vererbungslehre
    1923
  49. Chaitanya Lakshmi; Zupanič-Pajnič Irena; Walsh Susan; Balažic Jože; Zupanc Tomaž; Kayser Manfred
    Bringing colour back after 70 years
    2016
  50. Forensic science international
    2007
  51. 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
  52. Jenko Barbara; Dolžan Vita; Praprotnik Sonja
    Klinično farmakogenetski modeli za bolniku prilagojeno zdravljenje revmatoidnega artritisa
    [Clinical pharmacogenetic models for personalized rheumatoid arthritis treatment]
    2016
  53. 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
  54. Zadravec Petra; Berlec Aleš
    Razvoj gensko spremenjenih mlečnokislinskih bakterij s sposobnostjo vezave toksina šiga
    2016
  55. Norčič Gregor; Jelenc Franc; Novaković Srdjan
    Določanje prisotnosti krožečih tumorskih celic v periferni krvi bolnikov po RO-resekciji raka debelega črevesa in danke
    2016
  56. 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
  57. Oštrbenk Anja; Poljak Mario
    Genetska opredelitev in tkivni tropizem kandidatnih izolatov za nove genotipe človeških papilomavirusov v Sloveniji
    2016
  58. 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
  59. 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
  60. Verbovšek Urška; Lah Turnšek Tamara; Noorden Cornelis J. F. van
    Cathepsin K as a potential tumor marker in glioblastoma multiforme
    2016
  61. Klančar Gašper; Battelino Tadej; Trebušak Podkrajšek Katarina
    Genetske značilnosti hiperholesterolemij pri otrocih in mladostnikih v Sloveniji
    [Genetic charateristics of hypercholesterolemia in children and adolescents in Slovenia]
    2016
  62. Trampuš-Bakija Alenka; Jazbec Janez; Preložnik-Zupan Irena
    Opredelitev mutacij in ovrednotenje uporabnosti testov za oceno hemostatskega potenciala pri bolnikih z lahko hemofilijo A
    2016
  63. Vodušek Ana Lina; Jazbec Janez; Dolžan Vita
    Genetski polimorfizmi antioksidativnih encimov in mehanizmov popravljanja DNA pri sekundarnem raku ščitnice
    2015
  64. Saletinger Rajko; Strle Franc; Poljak Mario
    Reaktivacija latentne okužbe s humanim virusom citomegalije pri bolnikih z zunajbolnišnično pljučnico
    2015
  65. Terzič Tea; Kores-Plesničar Blanka; Dolžan Vita
    Genska variabilnost nevrotransmiterskih poti centralnega živčnega sistema ter presnove antipsihotikov pri terapevtsko rezistentni shizofreniji
    [Genetic variability in neurotransmiter pathways of central nervous system and antipsychotic disposition in treatment refractory schizophrenia]
    2015
  66. Plemenitaš Anja; Kores-Plesničar Blanka; Dolžan Vita
    Vpliv genske variabilnosti presnove etanola in serotoninskega sistema na abstinenco in izražanje psiholoških komponent pri odvisnosti od alkohola
    [Genetic influences in metabolism of ethanol and serotonergic system on abstinence and expression of psychological traits]
    2015
  67. Blazina Štefan; Ihan Alojz; Lovrečić Luca; Hovnik Tinka
    11q terminal deletion and combined immunodeficiency (Jacobsen syndrome)
    2016
  68. Repnik Katja; Koder Silvo; Skok Pavel; Ferkolj Ivan; Potočnik Uroš
    Transferrin level before treatment and genetic polymorphism in HFE gene as predictive markers for response to adalimumab in Crohn's disease patients
    2016
  69. Krajnc Natalija; Neubauer David
    Uspešnost protiepileptičnega zdravljenja in mehanizmi zmanjšanja centralne motorične latence pri bolnicah z Rettovim sindromom
    [Effectiveness of antiepileptic drug treatment and mechanisms of shortening of the central motor conduction time in patients with Rett syndrome]
    2016
  70. Brožič Andreja; Kloboves-Prevodnik Veronika
    Klonalnost in antigenske lastnosti reaktivnih in neoplastičnih limfocitnih proliferacij
    2016
  71. Zečkanović Aida; Žlahtič Tadej; Hudler Petra
    Karakterizacija polimorfizmov v segregacijskih genih pri raku želodca
    2015
  72. Bele Tjaša; Writzl Karin
    Klinične značilnosti pri preiskovancih z mikrodelecijskimi/mikroduplikacijskimi sindromi
    2015
  73. Peterlin Ana Marija; Lovrečić Luca
    Izbrani genetski faktorji in njihova vloga pri prezgodnjem porodu
    2015
  74. Šenk Barbara; Dolžan Vita; Jensterle Sever Mojca
    Genetska variabilnost serotoninskega sistema in izločanje inzulina ter vedenjski vzorci prehranjevanja pri bolnicah s sindromom policističnih ovarijev
    [Genetic variability of serotoninergic system and insulin secretion and eating behaviour in patients with polycystic ovary syndrome]
    2015
  75. Krajc Mateja; Novaković Srdjan; Žgajnar Janez; Blatnik Ana; Škof Erik; Vrečar Alenka; Klopčič Natalija; Duratović Konjević Amela
    Dedni rak dojk in/ali jajčnikov
    2016
  76. Deželak Matjaž; Repnik Katja; Koder Silvo; Ferkolj Ivan; Potočnik Uroš
    A prospective pharmacogenomic study of Crohn's disease patients during routine therapy with anti-TNF-a drug adalimumab: contribution of ATG5, NFKB1, and CRP genes to pharmacodynamic variability
    2016
  77. Cilenšek Ines; Mankoč Ramuš Sara; Globočnik Petrovič Mojca; Petrovič Danijel
    Oxidative stress biomarkers for diabetic retinopathy and medical management affecting oxidative stress
    2016
  78. Bučić Marina; Pregelj Peter; Zupanc Tomaž; Videtič Paska Alja
    Completed suicide, depression, and RELN polymorphisms
    2016
  79. Hudler Petra
    Aberrant DNA methylation and histone modifications in cancer
    2016
  80. Stangler Herodež Špela; Erjavec Škerget Alenka; Kokalj-Vokač Nadja
    Medicinska biotehnologija za študente biologije
    2011
  81. Dolinšek Jernej
    The effect of gluten-free diet and genetic factors on apoptotic activity of the small intestine in children with celiac disease
    2007
  82. Erjavec Škerget Alenka; Stangler Herodež Špela; Zagorac Andreja; Zagradišnik Boris; Kokalj-Vokač Nadja
    Detection of subtelomeric chromosome rearrangements in children with idiopathic mental retardation: choise of molecular and cytogenetics methods
    2006
  83. Kokalj-Vokač Nadja; Zagorac Andreja; Erjavec Škerget Alenka; Marčun-Varda Nataša; Krajnc Olga; Zagradišnik Boris
    Two cases with appearently the same subtelomeric unbalanced rearrangements and different phenotypes
    2006
  84. Marie Curie Conferences and Training Courses on arrayCGH and Molecular Cytogenetics
    2006
  85. Ocvirk Janja
    Pomen določanja mutacij KRAS in BRAF pri RDČD
    2010
  86. Novaković Srdjan
    Testiranje znanih mutacij v genu KRAS
    2010
  87. PLOS genetics
    2005
  88. Tajnik Mojca; Rogalska Malgorzata Ewa; Bussani Erica; Barbon Elena; Balestra Dario; Pinotti Mirko; Pagani Franco
    Molecular basis and therapeutic strategies to rescue factor ix variants that affect splicing and protein function
    2016
  89. Forensica
    2016
  90. Hajdinjak Tine
    Editorial comment
    2009
  91. Marčun-Varda Nataša; Gregorič Alojz
    Genetic studies in pediatric stroke
    2009
  92. Dmitrović Romana; Vlaisavljević Veljko; Ivanković Davor
    Endometrial growth in early pregnancy after IVF/ET
    2008
  93. Štimpfel Martin; Cerkovnik Petra; Novaković Srdjan; Maver Aleš; Virant-Klun Irma
    Putative mesenchymal stem cells isolated from adult human ovaries
    2014
  94. Novaković Srdjan
    Nastanek rakastih celic in tumorska razrast
    2009
  95. Kopušar Sebastijan; Bitenc Marko; Geršak Ksenija; Novaković Srdjan; Žgajnar Janez
    Med medicino prihodnosti in poslom sedanjosti
    2008
  96. Rijavec Matija; Maver Aleš; Hočevar Keli; Šilar Mira; Košnik Mitja; Peterlin Borut; Korošec Peter
    Global transcriptome profiling during acute anaphylactic reaction reveals involvement of complex networks of signaling, interactions and recruitment of distinct immune cell types
    2016
  97. Korošec Peter; Rupnik Helena; Dežman Katarina; Rijavec Matija
    Filaggrin mutations in early - and late-onset atopic dermatitis
    2016
  98. Šilar Mira; Košnik Mitja; Zidarn Mihaela; Korošec Peter; Andrejević Slađana; Karandža-Lapić Ljerka; Cikojević Draško; Baresic Marko; Rijavec Matija
    Mutational spectrum and genotype-phenotype association in a cohort of Croatian, Serbian and Slovenian patients with hereditary angioedema due to C1 inhibitor deficiency
    2016
  99. Redenšek Sara; Trošt Maja; Pirtošek Zvezdan; Dolžan Vita
    Pharmacogenetics of Parkinson's disease
    2016
  100. Merlo Sebastjan; Novák J; Tkáčová N; Nikolajević-Starčević Jovana; Šantl-Letonja Marija; Makuc Jana; Cokan Vujkovac Andreja; Letonja Jaušovec Lidija; Bregar Dejan; Zorc Marjeta; Rojko Maksimiljana; Mankoč Ramuš Sara; Kruzliak Peter; Petrovič Danijel
    Association of the ACE rs4646994 and rs4341 polymorphisms with the progression of carotid atherosclerosis in Slovenian patients with type 2 diabetes mellitus
    2015

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