biomedicina slovenica

"GENETICS" : 201-300

  1. Landi Maria Teresa; Bishop David Timothy; MacGregor Stuart; Machiela Mitchell J.; Stratigos Alexander J.; Ghiorzo Paola; Brossard Myriam; Calista Donato; Choi Jiyeon; Hočevar Marko; Novaković Srdjan
    Genome-wide association meta-analyses combining multiple risk phenotypes provide insights into the genetic architecture of cutaneous melanoma susceptibility
    2020 ►
  2. Reberšek Martina
    Consensus molecular subtypes (CMS) in metastatic colorectal cancer
    2020 ►
  3. Grubelnik Gašper; Boštjančič Emanuela; Zidar Nina
    NOTCH1 expression correlates to miR-27a, miR-34a, miR-145, miR-150, and miR-335 in human squamous cell carcinoma of the oral cavity
    2019 ►
  4. Žlajpah Margareta; Boštjančič Emanuela; Zidar Nina
    (Epi)genetic regulation of osteopontin in colorectal cancerogenesis
    2020 ►
  5. Marusic Tatiana; Šuštar Urša; Sadiq Fouzia; Kotori Vjosa; Mlinarič Matej; Kovač Jernej; Cevc Matija; Trebušak Podkrajšek Katarina; Battelino Tadej; Grošelj Urh
    Genetic and clinical characteristics of patients with homozygous and compound heterozygous familial hypercholesterolemia from three different populations
    2020 ►
  6. Stangler Herodež Špela; Marčun-Varda Nataša; Kokalj-Vokač Nadja; Krgović Danijela
    De novo KMT2D heterozygous frameshift deletion in a newborn with a congenital heart anomaly
    2020 ►
  7. Goričar Katja; Stojanov Konda J. T.; Dolžan Vita; Marinko Tanja
    Genetic variability of antioxidant mechanisms and late adverse events of breast cancer radiotherapy
    2020 ►
  8. Poljak Mario; Lunar Maja M.; Abecasis A. B.; Vandamme A.-M.; Tomažič Janez
    Bridging epidemiology with population genetics to understand the dynamics of HIV-1 transmission of a low incidence MSM-driven subtype B epidemic in central Europe
    2015 ►
  9. ESHG 2020.2
    2020 ►
  10. Balkan journal of medical genetics
    ???? ►
  11. Poster abstracts
    2019 ►
  12. Molecular genetics and metabolism reports
    2014 ►
  13. European journal of human genetics
    1997 ►
  14. Journal of assisted reproduction and genetics
    1984 ►
  15. Matjašič Alenka; Kolenc Danijela
    ETV1 oncogene fused to novel gene partner PTPRZ1 in a case of pilocytic astrocytoma
    2019 ►
  16. Lunar Maja M.; Židovec-Lepej Snježana; Poljak Mario
    Sequence ambiguity determined from routine pol sequencing is a reliable tool for real-time surveillance of HIV incidence trends
    2019 ►
  17. Tesovnik Tine; Battelino Tadej; Trebušak Podkrajšek Katarina
    Majhne nekodirajoče RNA zunajceličnih veziklov pri sladkorni bolezni tipa 1
    [Extracellular vesicles derived small non-coding RNA in type 1 diabetes]
    2020 ►
  18. Yang Wen-Yi; Petit Thibault; Thijs Lutgarde; Zhang Zhen-Yu; Jacobs Lotte; Hara Azusa; Wei Fang-Fei; Salvi Erika; Citterio Lorena; Delli Carpini Simona; Knez Judita
    Coronary risk in relation to genetic variation in MEOX2 and TCF15 in a Flemish population
    2015 ►
  19. Prašnikar Erika; Knez Jure; Kovačič Borut; Kunej Tanja
    Molecular signature of eutopic endometrium in endometriosis based on the multi-omics integrative synthesis
    2020 ►
  20. Redenšek Sara; Jenko Bizjan Barbara; Trošt Maja; Dolžan Vita
    Clinical and clinical-pharmacogenetic models for prediction of the most common psychiatric complications due to dopamingeric treatment in Parkinson's disease
    2020 ►
  21. Karalexi Maria A.; Dessypris Nick; Georgakis Marios K.; Ryzhov Anton; Jakab Zsuzsanna; Zborovskaya Anna A.; Dimitrova Nadya; Živković Snežana; Trojanowski Maciej; Žagar Tina
    Birth seasonality of childhood central nervous system tumors
    2020 ►
  22. Marčac-Grahek Tatjana; Kokondoska Grgič Vesna; Pinto Pedro
    Applications of next-generation sequencing in oncology and human genetics
    2019 ►
  23. Wouden Cathelijne H.; Böhringer Stefan; Cecchin Erika; Cheung Ka-Chun; Dávila-Fajardo Cristina Lucía; Deneer Vera H.; Dolžan Vita; Ingelman-Sundberg Magnus; Jönsson Siv; Karlsson Mats O.
    Generating evidence for precision medicine
    2020 ►
  24. Stegel Vida
    Next generation sequencing in oncology diagnostics
    2019 ►
  25. Kristan Aleša; Gašperšič Janez; Germ D.; Režen Tadeja; Lazarevič Julija; Fink Martina; Pajič Tadej; Podgornik Helena; Anžej Doma Saša; Žula Špela; Preložnik-Zupan Irena; Količ Rok; Marčac-Grahek Tatjana; Debeljak Nataša
    Next-generation sequencing (NGS) in diagnosis of hereditary erithrocytosis
    2019 ►
  26. Količ Rok; Debeljak Nataša; Kristan Aleša; Gašperšič Janez; Režen Tadeja; Fink Martina; Pajič Tadej; Marčac-Grahek Tatjana
    Choosing the best strategy for applications of next-generation sequencing in oncology and human genetics
    2019 ►
  27. Maver Aleš; Hodžić Alenka; Bergant Gaber; Višnjar Tanja; Golob Barbara; Babić Božović Ivana; Rogač Mihael; Volk Marija; Peterlin Borut
    On the path towards whole genome sequencing in elucidating genetic causes of human disease
    2019 ►
  28. Kovač Jernej
    Cytogenomics - genomics structural variation in the era of next generation sequencing
    2019 ►
  29. Genetics in medicine
    1998 ►
  30. Truden Sara; Žolnir-Dovč Marija; Sodja Eva; Starčič Erjavec Marjanca
    Nationwide analysis of Mycobacterium chimaera and Mycobacterium intracellulare isolates
    2020 ►
  31. Khan Mubeen; Cornelis Stéphanie S.; Del Pozo-Valero Marta; Whelan Laura; Runhar Esmee H.; Mishra Ketan; Bults Femke; AlSwaiti Yahya; AlTalbishi Alaa; Glavač Damjan
    Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics
    2020 ►
  32. Bertok Sara; Trebušak Podkrajšek Katarina; Rener-Primec Zvonka; Kržan Mojca; Pirtošek Zvezdan; Božič Borut
    Farmakogenetika protiepileptičnih zdravil pri otrocih in mladostnikih z epilepsijo
    2019 ►
  33. Bedenk Jure; Vrtačnik-Bokal Eda; Virant-Klun Irma
    The role of anti-Müllerian hormone (AMH) in ovarian disease and infertility
    2020 ►
  34. Meglič Anamarija; Debeljak Maruša; Kovač Jernej; Trampuš-Bakija Alenka; Rajić Vladan; Kojc Nika; Trebušak Podkrajšek Katarina
    SPTB related spherocytosis in a three-generation family presenting with kidney failure in adulthood due to co-occurrence of UMOD disease causing variant
    2020 ►
  35. Jenko Bizjan Barbara; Katsila Theodora; Tesovnik Tine; Šket Robert; Debeljak Maruša; Matsoukas Minos-Timotheos; Kovač Jernej
    Challenges in identifying large germline structural variants for clinical use by long read sequencing
    2020 ►
  36. Hrovatin Karin; Kunej Tanja; Dolžan Vita
    Genetic variability of serotonin pathway associated with schizophrenia onset, progression, and treatment
    2020 ►
  37. Petrijan Timotej; Menih Marija
    Discovery of a novel mutation in the REN gene in patient with chronic progressive kidney disease of unknown etiology presenting with acute spontaneous carotid artery dissection
    2019 ►
  38. Jensterle Sever Mojca
    Malignant pheocromocytoma-signs and symtoms, genetics, therapy
    2019 ►
  39. Writzl Karin
    Genetic counseling and testing in patients with heart failure
    2019 ►
  40. Mlakar Jernej
    New discoveries in molecular genetics of diffuse gliomas
    2019 ►
  41. Goričar Katja; Jeriha J.; Bešić Nikola; Gnidovec Stražišar Barbara; Dolžan Vita
    Tramadol pharmacogenetics and tramadol-related adverse events in patients after breast cancer surgery
    2019 ►
  42. Zupanič-Pajnič Irena
    Uporaba mitohondrijske DNA v forenzičnih preiskavah
    [Mitochondrial DNA in forensic analyses]
    2019 ►
  43. Zupanič-Pajnič Irena
    Molekularnogenetski vidiki preiskav starodavne DNA
    [Molecular genetic aspects of ancient DNA analyses]
    2019 ►
  44. Hadžić Metjahić Negra; Vidovič Maruška; Čakar Jasmina; Džehverović Mirela; Pilav Amela; Dogan Serkan; Marjanović Damir
    Genetic variation study on fifteen STR loci in isolated Slovenian "Inland Island" human populations of the Selška Valley Region
    2019 ►
  45. Kouter Katarina; Zupanc Tomaž; Videtič Paska Alja
    Genome-wide DNA methylation patterns in suicide victims
    2019 ►
  46. Leskovar Tamara; Zupanič-Pajnič Irena; Geršak Živa Miriam; Jerman Ivan; Črešnar Matija
    ATR-FTIR spectroscopy combined with data manipulation as a pre-screening method to assess DNA preservation in skeletal remains
    2020 ►
  47. Gorenjak Mario; Repnik Katja; Jezernik Gregor; Jurgec Staša; Skok Pavel; Potočnik Uroš
    Genetic prediction profile for adalimumab response in Slovenian Crohn's disease patients
    [Genetisches Vorhersageprofil für die Adalimumab-Antwort bei den slowenischen Morbus-Crohn-Patienten]
    2019 ►
  48. Vlačić Gregor; Hoda Mir Alireza; Klikovits Thomas; Sinn Katharina; Gschwandtner Elisabeth; Mohorčič Katja; Schelch Karin; Pirker Christine; Peter-Vörösmarty Barbara; Brankovic Jelena; Čufer Tanja; Rozman Aleš; Kern Izidor
    Expression of FGFR1-4 in malignant pleural mesothelioma tissue and corresponding cell lines and its relationship to patient survival and FGFR inhibitor sensitivity
    2019 ►
  49. Starčič Erjavec Marjanca; Berne Sabina
    Proceedings
    2019 ►
  50. Mikuletič Tina; Steyer Andrej; Kotar Tadeja; Zorec Tomaž Mark; Poljak Mario
    A novel reassortant mammalian orthoreovirus with a divergent S1 genome segment identified in a traveler with diarrhea
    2019 ►
  51. Obal Marcel; Zupanič-Pajnič Irena; Gornjak-Pogorelc Barbara; Zupanc Tomaž
    Different skeletal elements as a source of DNA for genetic identification of Second World War victims
    2019 ►
  52. Friš Eva Lina; Grdina Sara; Podovšovnik Eva; Zupanc Tomaž; Zupanič-Pajnič Irena
    Comparison of DNA yield after long-term storage of Second World War bone samples
    2019 ►
  53. Jeruc Jera
    Multicystic mesothelioma - a case report
    2010 ►
  54. Kouter Katarina; Zupanc Tomaž; Videtič Paska Alja
    DNA methylation - epigenetic factor of suicidal behaviour
    2019 ►
  55. Kouter Katarina; Zupanc Tomaž; Videtič Paska Alja
    Epigenetics of suicide in Slovenia
    2019 ►
  56. Abstract book
    2019 ►
  57. Peterlin Ana Marija; Peterlin Borut
    Sovremen pristap kon dijagnosticiranje na genetskite pričini za intelektualna poprečenost
    [Contemporary approach to diagnosis of genetic causes of intellectual disability]
    2016 ►
  58. Reljič Milan; Porović Admir
    Maternal serum levels of angiogenic markers and markers of placentation in pregnancies conceived with fresh and vitrified-warmed blastocyst transfer
    2019 ►
  59. Grbić E.; Peterlin Ana Marija; Kunej Tanja; Petrovič Danijel
    PPAR[Gamma] gene and atherosclerosis
    2018 ►
  60. Karadža-Lapić Ljerka; Barešić Marko; Vrsalović Renata; Ivković-Jureković Irena; Sršen Saša; Prkačin Ingrid; Rijavec Matija; Cikojević Draško
    Hereditary angioedema due to C1-inhibitor deficiency in pediatric patients in Croatia
    2019 ►
  61. Čelešnik Helena Sabina; Potočnik Uroš
    Limitations of 5-Aza-dc-treated DNA as unmethylated standard and optimization of methylation controls for Methylation-sensitive high resolution melting analyses
    2019 ►
  62. Redenšek Sara; Trošt Maja; Dolžan Vita
    Genetic polymorphisms in dopaminergic pathway influence the occurrence of adverse events of dopaminergic treatment in Parkinson's disease
    2019 ►
  63. Saunders Gary; Baudis Michael; Becker Regina; Beltran Sergi; Béroud Christophe; Birney Ewan; Brooksbank Cath; Brunak S; Van den Bulcke Marc; Leskošek Branimir
    Leveraging European infrastructures to access 1 million human genomes by 2022
    2019 ►
  64. Nature reviews
    2000 ►
  65. Dolinar Ana; Vrabec Katarina; Koritnik Blaž; Glavač Damjan; Ravnik-Glavač Metka
    Analysis of miRNA promoter methylation profiles in ALS patients
    2019 ►
  66. Kristan Aleša; Gašperšič Jernej; Hudler Petra; Germ D.; Režen Tadeja; Rozman Damjana; Kunej Tanja; Pajič Tadej; Fink Martina; Anžej Doma Saša; Žula Špela; Preložnik-Zupan Irena; Količ Rok; Marčac-Grahek Tatjana; Moškon Miha; Debeljak Nataša
    Implementation of a new diagnostic strategy for familial erythrocytosis in Slovenia
    2019 ►
  67. Jankova-Ajanovska Renata; Geppert Maria; Videtič Paska Alja; Willuweit Sascha; Roewer Lutz
    Y-chromosome diversity of the three major ethno-linguistic groups in the Republic of North Macedonia
    2019 ►
  68. Kovač Urša; Kovač Jernej; Maličev Elvira; Jasper Elizabeth A.; Trebušak Podkrajšek Katarina; Battelino Tadej; Ryckman Kelli K.; Rozman Damjana
    The circadian aspect of PNPLA3 p.I148M and TM6SF2 p.E167K in hypercholesterolemia
    2019 ►
  69. Kovač Urša; Jasper Elizabeth A.; Smith Caitlin, J.; Baer Rebecca J.; Bedell Bruce; Donovan Brittney M.; Weathers Nancy; Prosenc Uršula; Jelliffe-Pawlowski Laura L.; Rozman Damjana; Ryckman Kelli K.
    The association of polymorphisms in circadian clock and lipid metabolism genes with 2nd trimester lipid levels and preterm birth
    2019 ►
  70. Rogač Mihael; Peterlin Borut
    Epigenetic signature of chronic maternal stress load during pregnancy might be a potential biomarker for spontaneous preterm birth
    2018 ►
  71. ESHG 2019
    2019 ►
  72. Konte Tilen; Lavrin Teja; Hudoklin Samo; Veranič Peter; Sitar Simona; Žagar Ema; Lenassi Metka; Plemenitaš Ana
    Isolation and characterization of extracellular vesicles produced by the halophilic/halotolerant fungoWallemia ichthyophagaandHortaea werneckii
    2019 ►
  73. Noventa Marco; Vitagliano Amerigo; Andrisani Alessandra; Blaganje Mija; Vigano Paola; Papaelo Enrico; Scioscia Marco; Cavallin Francesco; Ambrosini Guido; Cozzolino Mauro
    Testosterone therapy for women with poor ovarian response undergoing IVF
    2019 ►
  74. Abstract book
    2019 ►
  75. Arno Gavin; Agrawal Smriti A.; Eblimit Aiden; Bellingham James; Sergouniotis Panagiotis I.
    Mutations in REEP6 cause autosomal-recessive retinitis pigmentosa
    2016 ►
  76. Wheway Gabrielle; Schmidts Miriam; Mans Dorus A.; Szymanska Katarzyna; Nguyen Thanh-Minh T.; Racher Hilary; Phelps Ian G.; Toedt Grischa; Kennedy Julie; Sergouniotis Panagiotis I.
    An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes
    2015 ►
  77. Halford Stephanie; Liew Gerald; Mackay Donna S.; Sergouniotis Panagiotis I.; Holt G. Richard; Broadgate Suzanne; Volpi Emanuela; Ocaka Louise; Robson Anthony G.; Holder Graham
    Detailed phenotypic and genotypic characterization of bietti crystalline dystrophy
    2014 ►
  78. Ellingford Jamie M; Barton Stephanie J.; Bhaskar Sanjeev S; O'Sullivan James; Williams Simon G; Lamb Janine A; Panda Binay; Sergouniotis Panagiotis I.; Gillespie Rachel L.; Daiger Stephen P
    Molecular findings from 537 individuals with inherited retinal disease
    2016 ►
  79. Redenšek Sara; Jenko Barbara; Trošt Maja; Dolžan Vita
    Clinical-pharmacogenetic predictive models for time to occurrence of levodopa related motor complications in Parkinson's disease
    2019 ►
  80. Ellingford Jamie M; Campbell Christopher; Barton Stephanie J.; Bhaskar Sanjeev S; Gupta Saurabh; Taylor Rachel L.; Sergouniotis Panagiotis I.; Horn Bradley; Lamb Janine A; Michaelides Michel
    Validation of copy number variation analysis fornext-generation sequencing diagnostics
    2017 ►
  81. Ellingford Jamie M; Horn Bradley; Campbell Christopher; Arno Gavin; Barton Stephanie J.; Tate Catriona; Bhaskar Sanjeev S; Sergouniotis Panagiotis I.; Taylor Rachel L.; Carss Keren J
    Assessment of the incorporation of CNV surveillance into gene panel next-generation sequencing testing for inherited retinal diseases
    2018 ►
  82. Sornalingam Krishanthy; Javed Ahmed; Aslam Tariq; Sergouniotis Panagiotis I.; Jones Simon; Ghosh Arunabha; Ashworth Jane L.
    Variability in the ocular phenotype in mucopolysaccharidosis
    2019 ►
  83. Genetics and Molecular Biology
    1998 ►
  84. Brazilian Journal of Genetics =
    1978 ►
  85. Kouter Katarina; Zupanc Tomaž; Videtič Paska Alja
    Genome-wide DNA methylation in suicide victims revealing impact on gene expression
    2019 ►
  86. Sergouniotis Panagiotis I.; Perveen Rahat; Thiselton Dawn L.; Giannopoulos Konstantinos; Sarros Marios; Davies Jennifer R.; Biswas Susmito; Ansons Alec M.; Ashworth Jane L.; Lloyd Christopher I.
    Clinical and molecular genetic findings in autosomal dominant OPA3-related optic neuropathy
    2015 ►
  87. Sergouniotis Panagiotis I.; Urquhart Jill E; Williams Simon G; Bhaskar Sanjeev S; Black Graeme C. M.; Lovell Simon C; Whitby David J; Newman William G; Clayton-Smith Jill
    Agnathia-otocephaly complex and asymmetric velopharyngeal insufficiency due to an in-frame duplication in OTX2
    2015 ►
  88. El-Asrag Mohammed E.; Sergouniotis Panagiotis I.; McKibbin Martin; Plagnol Vincent; Sheridan Eamonn; Waseem Naushin; Abdelhamed Zakia; McKeefry Declan; Van Schil Kristof; Poulter James A.
    Biallelic mutations in the autophagy regulator DRAM2 cause retinal dystrophy with early macular involvement
    2015 ►
  89. Mossey Peter A.; Little Julian; Steegers-Theunissen Regine; Molloy Maureen Anne; Peterlin Borut; Shaw William Christie; Johnson Candice; FitzPatrick David R.; Franceschelli Paola; Rubini Michele
    Genetic interactions in nonsyndromic orofacial clefts in Europe-EUROCRAN Study
    2017 ►
  90. Barišić Anita; Pereza Nina; Hodžić Alenka; Kapović Miljenko; Peterlin Borut; Ostojić Saša
    Functional single nucleotide polymorphisms of matrix metalloproteinase 7 and 12 genes in idiopathic recurrent spontaneous abortion
    2017 ►
  91. Škrlec Ivana; Milic Jakov; Heffer Marija; Peterlin Borut; Wagner Jasenka
    Genetic variations in circadian rhythm genes and susceptibility for myocardial infarction
    2018 ►
  92. Neurogenetics
    1997 ►
  93. Sergouniotis Panagiotis I.; Lenassi Eva
    Biallelic variants in TTLL5, encoding a tubulin glutamylase, cause retinal dystrophy
    2014 ►
  94. Sergouniotis Panagiotis I.; Davidson Alice E.; Mackay Donna S.; Li Zheng; Xu Yang; Plagnol Vincent; Moore Anthony T.; Webster Andrew R.
    Recessive mutations in KCNJ13, encoding an inwardly rectifying potassium channel subunit, cause leber congenital amaurosis
    2011 ►
  95. Mazej Poredoš Barbara; Dolžan Vita
    Predpisovanje zdravil na podlagi genetskega testiranja bolnika - prihodnost je tukaj
    [Prescribing medicines after pharmacogenetic testing - the future is here]
    2019 ►
  96. Rozman Damjana; Videtič Paska Alja
    Genomika v družinski medicini
    [Genomics in family medicine]
    2019 ►
  97. Bon Jurij; Pregelj Peter; Videtič Paska Alja
    Genetics, epigenetics and BDNF in depression
    2018 ►
  98. Zadel Maja; Maver Aleš; Kovanda Anja; Peterlin Borut
    DNA methylation profiles in whole blood of Huntington's disease patients
    2018 ►
  99. Čuš Maruška; Vlaisavljević Veljko; Repnik Katja; Potočnik Uroš; Kovačič Borut
    Could polymorphisms of some hormonal receptor genes, involved in folliculogenesis help in predicting patient response to controlled ovarian stimulation?
    2019 ►
  100. Stana Jan; Maver Uroš; Potočnik Uroš
    Genetic biases related to chronic venous ulceration
    2019 ►

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