biomedicina slovenica


"HOMOZYGOTE" : 48

  1. 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
  2. Mankoč Ramuš Sara; Cilenšek Ines; Globočnik Petrovič Mojca; Soucek Miroslav; Kruzliak Peter; Petrovič Danijel
    Single nucleotide polymorphisms in the Trx2/TXNIP and TrxR2 genes of the mitochondrial thioredoxin antioxidant system and the risk of diabetic retinopathy in patients with Type 2 diabetes mellitus
    2016
  3. Kruzliak Peter; Haley Andreana P; Nikolajević-Starčević Jovana; Gaspar Ludovit; Petrovič Danijel
    Polymorphisms of the Peroxisome Proliferator-Activated Receptor-[gamma] (rs1801282) and its coactivator-1 (rs8192673) are associated with obesity indexes in subjects with type 2 diabetes mellitus
    2015
  4. Grošelj Urh; Oražem Miha; Kanič Maja; Vidmar Gaj; Grosek Štefan
    Experiences of slovene ICU physicians with end-of-life decision making
    2014
  5. Berce Vojko; Pinto Kozmus Carina; Potočnik Uroš
    Association among ORMDL3 gene expression, 17q21 polymorphism and response to treatment with inhaled corticosteroids in children with asthma
    2013
  6. Jurković Mlakar Simona; Osredkar Joško; Preželj Janez; Marc Janja
    Antioxidant enzymes GSR, SOD1, SOD2, and CAT gene variants and bone mineral density values in postmenopausal women: a genetic association analysis
    2012
  7. Rau T; Dungen HD; Edelmann F; Waagstein F; Lainščak M; Dimković S; Apostolović S; Nešković AN; Haverkamp W; Gelbrich G; Eschenhagen T
    Impact of the beta1-adrenoceptor Arg389Gly polymorphism on heart-rate responses to bisoprolol and carvedilol in heart-failure patients
    2012
  8. Hunt Karen A; Smyth Deborah J; Balschun Tobias; Ban Maria; Mistry Vanisha; Ahmad Tariq; Anana Vidya; Barrett Jeffrey C; Avbelj Magdalena; Battelino Tadej
    Rare and functional SIAE variants are not associated with autoimmune disease risk in up to 66,924 individuals of European ancestry
    2012
  9. Sergouniotis Panagiotis I; Davidson Alice E; Mackay Dona S; Lenassi Eva
    Biallelic mutations in PLA2G5, encoding group V phospholipase A(2), cause benign fleck retina
    2011
  10. Battelino Saba; Rudolf Gorazd; Žargi Miha; Trebušak-Podkrajšek Katarina; Peterlin Borut
    Connexin 26 (GJB2) and connexin 30 del(GJB6-D13S1830) mutations in Slovenians with prelingual non-syndromic deafness
    2011
  11. Mlinar B; Ferk P; Pfeifer M; Geršak K; Marc J
    Lipin 1 gene polymorphisms in polycystic ovary syndrome
    2011
  12. Maver A; Medica I; Salobir B; Terčelj M; Peterlin B
    Genetic variation in osteopontin gene is associated with susceptibility to sarcoidosis in Slovenian population
    2009
  13. Mitrovič Mitja; Potočnik Uroš
    High resolution melting curve analysis for high-throughput SNP genotyping in IL23R gene and association of IL23R with Slovenian inflammatory bowel diseases patients
    2010
  14. Ristić S; Brajenović-Milić B; Buretić-Tomljanović A; Kapović M
    Population-genetic analysis of certain morphophysiological traits in the population of Rijeka, Croatia (III)
    1996
  15. Zaputovic Sanja; Stanojevic Milan; Medica Igor; Peterlin Borut; Petrovic Oleg
    Incidence of the 35delG/GJB2 mutation in low-risk newborns
    2008
  16. Alazami Anas M; Al-Saif Amr; Al-Semari Abdulaziz; Bohlega Saeed; Zlitni Soumaya; Alzahrani Fatema; Bavi Prashant; Kaya Namik; Colak Dilek; Peterlin Borut
    Mutations in C2orf37, encoding a nucleolar protein, cause hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome
    2008
  17. Trontelj Jurij; Marc Janja; Zavratnik Andrej; Bogataj Marija; Mrhar Aleš
    Effects of UGT1A1*28 polymorphism on raloxifene pharmacokinetics and pharmacodynamics
    2009
  18. Piškur J; Gojković Z; Bahn E
    A synthetic combination of mutations, including fs(1)pyrSu(b), rSu(b) and b, causes female sterility and reduces embryonic viability in Drosophila melanogaster
    1999
  19. Maver A; Medica I; Salobir B; Terčelj-Zorman M; Šabovič M; Petrovič D; Peterlin B
    Peroxisome proliferator-activated receptor gamma/PRO12Ala polymorphism and peroxisome proliferator-activated receptor gamma coactivator-1 alpha/gly482Ser polymorphism in patients with sarcoidosis
    2008
  20. Cukjati M; Vaupotič T; Rupreht R; Čurin-Šerbec V
    Prevalence of H63D, S65C and C282Y hereditary hemochromatosis gene mutations in Slovenian population by an improved high-throughput genotyping assay
    2007
  21. Salobir B; Medica I; Terčelj M; Kastrin A; Šabovič M; Peterlin B
    Association of angiotensin-converting enzyme/DD genotype with sarcoidosis susceptibility in Slovenian patients
    2007
  22. Cukjati M; Koren S; Čurin Šerbec V; Vidan-Jeras B; Rupreht R
    A novel homozygous frameshift deletion c.471del of HFE associated with hemochromatosis
    2007
  23. Terzić Rifet; Šehić Amela; Teran Nataša; Terzić Ibrahim; Peterlin Borut
    Frequency of HFE gene mutations C282Y and H63D in Bosnia and Herzegovina
    2006
  24. Vallet-Erdtmann Virginie; Tavernier Genevieve; Contreras Juan Antonio; Mairal Aline; Rieu Cécile; Touzalin Anne-Marie; Holm Cecilia; Jegou Bernard; Langin Dominique
    The testicular form of hormone-sensitive lipase HSLtes confers rescue of male infertility in HSL-deficient mice
    2004
  25. Mencinger Marina; Šilar Mira; Košnik Mitja; Korošec Peter
    Genetsko testiranje za cistično fibrozo pri odraslih bolnikih
    [Genetic testing for cystic fibrosis in adult patients]
    2006
  26. Palmieri Luigi; Alberio Simona; Pisano Isabella; Lodi Tiziana; Meznarič-Petruša Mija; Zidar Janez; Santoro Antonella; Scarcia Pasquale; Fontanesi Flavia; Lamantea Eleonora
    Complete loss-of-function of the heart/muscle-specific adenine nucleotide translocator is asoociated with mitochondrial myopathy and cardiomyopathy
    2005
  27. Motaln Helena
    Vloga gena Raidd med embrionalnim razvojem miši (Mus musculus)
    [The role of Raidd gene during embryonic development of the mouse (Mus musculus)]
    2004
  28. Vineis Paolo; Veglia Fabrizio; Anttila Sisko; Benhamou Simone; Clapper Margie L; Dolžan Vita; Ryberg David; Hirvonen Ari; Kremers Pierre; Le Marchand Loic
    CYP1A1, GSTM1 and GSTT1 polymoprhisms and lung cancer: a pooled analysis of gene-gene interations
    2004
  29. Kamhi T; Sedmak M
    Homozigotno pomanjkanje alfa 1-antitripsina - prikaz kliničnega primera
    [Homozygous alpha 1-antitrypsin deficiency - case report]
    2004
  30. Smerkolj Sava; Popović Mara; Glavač Damjan
    Iskanje genetskih sprememb ter polimorfizem kodona 129 gena PRNP v zdravi slovenski populaciji in sporadičnih primerih Creutzfeldt-Jakobove bolezni
    [Screening for genetic changes and codon 129 polymorphism in PRNP gene in healthy Slovenian population and sporadic cases of Creutzfeldt-Jakob disease]
    2004
  31. Wine Jeffrey J; Dean Michael; Glavač Damjan
    Natural animal models of human genetic diseases
    2002
  32. Zagradišnik Boris; Bračič Katarina; Marčun-Varda Nataša; Kokalj-Vokač Nadja; Gregorič Alojz
    G-protein beta3 subunit gene C825T polymorphism in patients with vesico-ureteric reflux
    2004
  33. Stocco Gabriele; Martelossi Stefano; Decorti Giuliana; Ventura Alessando; Malusa Noelia; Bartoli Fiora; Giraldi Tullio
    Pharmacogenetics of thiopurines: can posology be guided by laboratory data?
    [Farmakogenetika tiopurinov: ali so laboratorijski podatki lahko odločilni v pozologiji?]
    2004
  34. Hajdinjak Tine; Zagradišnik Boris
    Prostate cancer and polymorphism D85Y in gene for dihydrotestosterone degrading enzyme UGT2BI5: frequency of DD homozygotes increases with Gleason score
    2004
  35. Vineis Paolo; Veglia Fabrizio; Benhamou Simone; Butkiewicz Dorota; Cascorbi Ingolf; Clapper Margie L.; Dolžan Vita; Haugen Aage; Hirvonen Ari; Ingelman-Sundberg Magnus
    CYP1A1 T3801 C polymorphism and lung cancer: a pooled analysis of 2451 cases and 3358 controls
    2003
  36. Lukač-Bajalo J; Marc J; Mlinar B; Karas N; Kržišnik C; Battelino T
    Frequencies of Q188R and N314D mutations and IVS5-24g>A intron variation in the galactose-1-phosphate uridyl transferase (GALT) gene in the Slovenian population.
    2002
  37. Srovin Tina
    Razvoj nove diagnostične metode za hitro in zanesljivo ugotavljanje mutacije CCR5delta32
    2001
  38. Frisch H; Battelino T; Schober Edith; Baumgartner-Parzer Sabina; Nowotny P; Vierhapper H
    Salt wasting in simple virilizing congenital adrenal hyperplasia
    2001
  39. Doerk Thilo; Maček Milan; Mekus Frauke; Tuemmler Burkhard; Ravnik-Glavač Metka; Glavač Damjan; Komel Radovan; Vouk Katja
    Characterization of a novel 21-kb deletion, CFTRdele2,3(21 kb), in the CFTR gene: a cystic fibrosis mutation of Slavic origin common in Central and East Europe
    2000
  40. Chandler David; Angelicheva Dora; Heather Lisa; Gooding Rebecca; Gresham David; Yanakiev Peter; de Jonge Roos; Baas Frank; Dye Danielle; Butinar Dušan
    Hereditary motor and sensory neuropathy - Lom (HMSNL): refined genetic mapping in Romani (Gypsy) families from several European countries
    2000
  41. Rozman P; Drabbels J; Schipper RF; Doxiadis I; Stein S; Claas FH
    Genotyping for human platelet-specific antigens HPA-1, -2, -3, -4 and -5 in the Slovenian population reveals a slightly increased frequency of HPA-1b and HPA-2b as compared to other European populations.
    1999
  42. Lavrenčič Aleša; Kosmina Barbara; Keber Irena; Videčnik Viktor; Keber Dušan
    Carotid intima-media thickness in young patients with familial hypercholesterolaemia
    1996
  43. Kotnik Vladimir; Lužnik-Bufon Tatjana; Schneider Peter M; Kirschfink Michael
    Molecular, genetic, and functional analysis of homozygous C8 beta-chain deficiency in two siblings
    1997
  44. Uršič M; Fazarinc G; Zabavnik JP; Pogačnik A; Bavdek SV
    The incidence of the RYR 1 gene mutation in different pig breeds
    1997
  45. Logar-Car Gordana; Joković Živa; Ferlan-Marolt Vera; Strlič Mirko; Peče Henrik
    Homozigotno pomanjkanje alfa-1 antitripsina - primeri otrok s holestazo
    [Homozygous deficiency of alfa-1 antitrypsin - cases of children with cholestasis]
    1996
  46. Devoto M; Romeo G; ten Kate LP; Chevalier F; Bozon D; Estivill X; Casals T; Abeliovich D; Lerer I; Canki-Klain N; Ravnik-Glavač M
    No evidence for segregation distortion of cystic fibrosis alleles among sibs of cystic fibrosis patients
    1995
  47. de la Salle Henri; Hanau Daniel; Fricker Dominique; Urlacher Arelette; Kelly Adrian; Salamero Jean; Powis Stephen H; Donato Lionel; Bausinger Huguette; Jeras Matjaž
    Homozygous human TAP peptide transporter mutation in HLA class I deficiency
    1994
  48. Štern Artur
    Tipi serumskih transferinov v povezavi s plodnostjo lipicancev
    1991



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