biomedicina slovenica


"HETEROZYGOTE" : 87

  1. 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
  2. Grošelj Urh; Oražem Miha; Kanič Maja; Vidmar Gaj; Grosek Štefan
    Experiences of slovene ICU physicians with end-of-life decision making
    2014
  3. Bacchelli Elena; Ceroni Fabiola; Pinto Dalila; Lomartire Silvia; Giannandrea Maila; D'Adamo Patrizia; Bonora Elena; Parchi Piero; Tancredi Raffaella; Battaglia Agatino
    A CTNNA3 compound heterozygous deletion implicates a role for [alpha]T-catenin in susceptibility to autism spectrum disorder
    2014
  4. 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
  5. Riccio M. E.; Buhler S.; Nunes J. M.; Vidan-Jeras Blanka
    16th IHIW
    2013
  6. Jurković Mlakar Simona; Preželj Janez; Marc Janja
    Testing GSTP1 genotypes and haplotypes interactions in Slovenian post-/pre-menopausal women: Novel involvement of glutathione S-transferases in bone remodeling process
    2012
  7. Toplak Nataša; Frenkel Joost; Ozen Seza; Lachmann Helen J
    An international registry on autoinflammatory diseases: the Eurofever experience
    2012
  8. Jurković Mlakar Simona; Preželj Janez; Osredkar Joško; Marc Janja
    BMD values and GSTM3 gene polymorphisms in combination with GSTT1/GSTM1 genes: a genetic association study in Slovenian elderly
    2012
  9. 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
  10. Bione Silvia; D'Adamo Patrizia; Maestrini Elena; Gedeon Agi K; Bolhuis Pieter A; Toniolo Daniela
    A novel X-linked gene, G4.5. is responsible for Barth syndrome
    1996
  11. Orstavik Karen Helene; Orstavik Ragnhild E; Naumova Anna K; D'Adamo Patrizia
    X chromosome inactivation in carriers of Barth syndrome
    1998
  12. Meloni Ilaria; Bruttini Mirella; Longo Ilaria; D'Adamo P
    A mutation in the rett syndrome gene, MECP2, causes X-linked mental retardation and progressive spasticity in males
    2000
  13. Meznarič M; Gonzalez-Quereda L; Gallardo E; de Luna N; Gallano P; Fanin M; Angelini C; Peterlin B; Zidar J
    Abnormal expression of dysferlin in skeletal muscle and monocytes supports primary dysferlinopathy in patients with one mutated allele
    2011
  14. Mlinar B; Ferk P; Pfeifer M; Geršak K; Marc J
    Lipin 1 gene polymorphisms in polycystic ovary syndrome
    2011
  15. 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
  16. Zaputovic Sanja; Stanojevic Milan; Medica Igor; Peterlin Borut; Petrovic Oleg
    Incidence of the 35delG/GJB2 mutation in low-risk newborns
    2008
  17. Rozman Tamara; Dovč Peter; Marić Saša; Kokalj-Vokač Nadja; Erjavec Škerget Alenka; Rab P.; Snoj Aleš
    Evidence for two transferrin loci in the Salmo trutta genome
    2008
  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. Trebušak-Podkrajsek Katarina; Milenković Tatjana; Odink Roelof J; Claasen-van der Grinten; Bratanič Nina; Hovnik Tinka; Battelino Tadej
    Detection of a complete autoimmune regulator gene deletion and two additional novel mutations in a cohort of patients with atypical phenotypic variants of autoimmune polyglandular syndrome type 1
    2008
  20. 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
  21. Ristić Smiljana; Lovrečić Luca; Starčević-Čizmarević Nada; Brajenović-Milić Bojana; Šega-Jazbec Saša; Sepčić Juraj; Kapović Miljenko; Peterlin Borut
    Tumor necrosis factor-alpha-308 gene polymorphism in Croatian and Slovenian multiple sclerosis patients
    2007
  22. 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
  23. 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
  24. Paro-Panjan D; Kitanovski L; Avčin T
    Neonatal antiphospholipid syndrome associated with heterozygous methylentetrahydrofolate reductase C677T and prothrombin G20210A gene mutations
    2007
  25. Terzić Rifet; Šehić Amela; Teran Nataša; Terzić Ibrahim; Peterlin Borut
    Frequency of HFE gene mutations C282Y and H63D in Bosnia and Herzegovina
    2006
  26. Lovrečić L; Pelet A; Peterlin B
    Heterogeneity of the triple A syndrome and assessment of a case
    2006
  27. Medica Igor; Rudolf Gorazd; Balaban Manuela; Peterlin Borut
    C.35delG/ GJB2 and del(GJB6-D13S1830) mutations in Croatians with prelingual non-syndromic hearing impairment
    2005
  28. 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
  29. Pećina-Šlaus Nives; Kljaić Milka; Nikuševa-Martič Tamara
    Loss of heterozygosity of APC and CDH1 genes in laryngeal squamous cell carcinoma
    2005
  30. Karas N; Gobec L; Pfeifer V; Mlinar B; Battelino T; Lukač-Bajalo J
    Mutations in galactose-1-phosphate uridyltransferase gene in patients with idiopathic presenile cataract
    2003
  31. Berginc Gašper; Glavač Damjan
    Microsatellite instability and loss of heterozygosity as clinically important molecular markers in different tumours
    [Mikrosatelitna nestabilnost in izguba heterozigotnosti kot klinično pomembna molekularna označevalca pri različnih tumorjih]
    2005
  32. 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
  33. Kobal J; Meglič B; Mesec A; Peterlin B
    Early sympathetic hyperactivity in Huntington's disease
    2004
  34. Vašku V; Vašku JA; Pavkova-Goldbergova M; Vašku A
    Association of variants in angiotensin-converting enzyme and endothelin-1 genes with phototherapy in cutaneous T-cell lymphoma
    2004
  35. 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
  36. Wine Jeffrey J; Dean Michael; Glavač Damjan
    Natural animal models of human genetic diseases
    2002
  37. 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
  38. Ramšak Andreja
    Impact of alien populations used in mariculture on genome of wild populations of same species
    2002
  39. Avbelj Magdalena; Hočevar Marko; Trebušak-Podkrajšek Katarina; Kržišnik Ciril; Battelino Tadej
    A novel L94Q mutation in the CDKN2A gene in a melanoma kindred
    2003
  40. Ramšak Andreja; Garoia Flavio; Guarniero Ilaria; Mannini Piero; Tinti Fausto
    Novel polymorphic microsatellite markers for the common pandora (Pagellus erythrinus)
    2003
  41. Peterlin Borut; Globočnik-Petrovič Mojca; Makuc Jana; Hawlina Marko; Petrovič Daniel
    A hemochromatosis-causing mutation C282Y is a risk factor for proliferative diabetic retinopathy in Caucasians with type 2 diabetes
    2003
  42. Vesel Samo; Stopar-Obreza Mirjam; Trebušak-Podkrajšek Katarina; Jazbec Janez; Podnar Tomaž; Battelino Tadej
    A novel mutation in the G4.5 (TAZ) gene in a kindred with Barth syndrome
    2003
  43. Glavač Damjan; Volavšek Metka; Potočnik Uroš; Ravnik-Glavač Metka; Gale Nina
    Low microsatellite instability and high loss of heterozygosity rates indicate dominant role of the suppressor pathway in squamous cell carcinoma of head and neck and loss of heterozygosity of 11q14.3 correlates with tumor grade
    2003
  44. Dolžan V; Stopar-Obreza M; Žerjav-Tanšek M; Breskvar K; Kržišnik C; Battelino T
    Mutational spectrum of congenital adrenal hyperplasia in Slovenian patients: a novel Ala15Thr mutation and Pro30Leu within a larger gene conversion associated with a severe form of the disease
    2003
  45. Peterlin Borut
    Onkogenetika v ginekologiji
    2001
  46. Smerkolj S; Popović M; Glavač D
    Codon 129 polymorphism and genetic alterations in the Prnp gene in healthy populations and patients with sCJD
    2003
  47. Volavšek Metka
    Spremembe genov in proteinov celičnega ciklusa pri ploščatoceličnem karcinomu grla in spodnjega žrela
    2003
  48. Krajc Mateja
    Mutational analysis of the BRCA-1 and BRCA-2 genes in Slovenian families with a high incidence of breast and/or ovarian cancer and investigation of feasibility and the moral implications of counseling of these families in Slovenia
    2000
  49. 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
  50. 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
  51. Clayton Richard N; Pfeifer Marija; Atkinson A Brew; Belchetz Paul; Wass John AH; Kyrodimou Effie; Vanderpump Mark; Simpson David; Bicknell John; Farrell William E
    Different patterns of allelic loss (loss of heterozygosity) in recurrent human pituitary tumors provide evidence for multiclonal origins
    2000
  52. Srovin Tina
    Razvoj nove diagnostične metode za hitro in zanesljivo ugotavljanje mutacije CCR5delta32
    2001
  53. Jug Tamara
    Genetska raznolikost soške postrvi (Salmo marmoratus) v Sloveniji
    [Genetic variation of marble trout (Salmo marmoratus) in Slovenia]
    2002
  54. Benedik-Dolničar Majda
    O krvavitvah pri prenašalkah hemofilije in o menstruaciji pri von Willebrandovi bolezni
    2001
  55. 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
  56. Zajc I; Kus M
    Populacijska struktura Dalmatincev in Istrskih goničev ter njihovi evolicijski odnosi z nekaterimi drugimi pasmami, kot jih nakazujejo polimorfni mikrosateliti
    [Population structure of Dalmatians and Istrian shorthaired hounds and their evolutionary relationships to some other breeds as revealed by polymorphic microsatellites]
    2001
  57. Šebeštjen Miran; Žegura Branka; Gužič-Salobir Barbara; Keber Irena
    Fibrinolytic parameters and insulin resistance in young survivors of myocardial infarction with heterozygous familial hypercholesterolemia
    2001
  58. Cardesa Antonio; Nadal Alfons; Jares Pedro; Fernandez Pedro L; Campo Elias
    Advances in pathology of laryngeal cancer. Experience of the Barcelona group
    2000
  59. Bidovec M; Mazić U; Kokalj-Vokač N
    Pomen genetske diagnostike Williamsovega sindroma
    [The significance of gene diagnostics in Williams syndrome]
    2000
  60. Glavač D; Kuo E; Hurlock G; Ravnik-Glavač M; Potočnik U; Robinson C; Dean M; Wine JJ
    Genomic sequences of CFTR in three species of non-human primate M. mulatta (Rhesus macaque), M. nemestrina (Pigtail macaque) and Papio anubis (Baboon)
    2000
  61. Cotman M; Lazar P
    Effect of population bottleneck on two populations of cattle: Istrian breed and Tolmin strain of Cika
    2000
  62. Potočnik U; Glavač D; Golouh R; Ravnik-Glavač M
    Causes of microsatellite instability in colorectal tumors: implications for hereditary non-polyposis colorectal cancer screening
    2000
  63. Knežević J; Milić A; Tanacković G; Pavelić J
    Cystic fibrosis - carrier status in Croatia
    2000
  64. Ravnik-Glavač M; Atkinson A; Glavač D; Dean M
    Sensitivity of DHPLC method for analysis of CFRT gene mutations
    2000
  65. Mlinarič-Raščan I
    Genetic basis of murine autoimmune syndromes
    2000
  66. Čeh M; Perković T; Hvala A; Jaki P; Luzar B; Ferluga D
    Fabryjeva bolezen - prikaz dveh primerov
    2000
  67. Zupanič Irena
    Uvedba preiskave DNA za prepoznavanje oseb in preverjanje sorodstvenih povezav v slovenski populaciji
    [An introduction of forensic DNA analysis for human identification and for determing relatedness in the Slovenian population]
    1999
  68. Ravnik-Glavač Metka; Dean Michael; Glavač Damjan
    Study of mutant and polyvariant mutant CFRT genes in patients with congenital absence of the vas deferens
    2000
  69. Ravnik-Glavač Metka; Glavač Damjan
    Živalski modeli v genskem zdravljenju cistične fibroze
    [Animal models in gene therapy of cystic fibrosis]
    1999
  70. Debevec Marija; Gregorič Jelka; Peterlin Borut
    Starši nosilci kromosomskih preureditev kot indikacija za prenatalno diagnostiko
    1998
  71. Laake Kirsten; Launonen Virpi; Niederacher Dieter; Gudlaugsdottir Sigfridur; Seitz Susanne; Rio Pascale; Champeme Marie-Helene; Bieche Ivan; Sever Nataša; Peterlin Borut; et al ;
    Loss of heterozygosity at 11q23.1 and survival in breast cancer: results of a large European study
    1999
  72. Benedik-Dolničar Majda
    Hemofilia in genetska diagnostika
    1999
  73. Kodish Eric; Wiesner Georgia L; Mehlman Maxwell; Murray Thomas
    Genetska testiranja za tveganje raka: kako uskladiti nasprotja
    [Genetic testing for cancer risk. How to reconcile the conflicts]
    1998
  74. Zupanič I; Balažic J; Komel R
    Analysis of nine short tandem repeat (STR) loci in the Slovenian population
    1998
  75. Bricl I; Rožman P; Potočnik M; Završnik T
    The role of the RhD genotyping in prenatal diagnostic: case report
    1998
  76. Lavrenčič Aleša; Kosmina Barbara; Keber Irena; Videčnik Viktor; Keber Dušan
    Carotid intima-media thickness in young patients with familial hypercholesterolaemia
    1996
  77. Debevec M; Gregorič J; Brezigar A; Peterlin B; Cerar V
    Prenatal diagnosis and pregnancy outcome in cases where both parents have balanced translocation
    1997
  78. Cotman M; Lazar P
    Position of Istrian breed among European breeds of cattle
    1997
  79. Potočnik U; Ravnik-Glavač M; Vodovnik A; Golouh R; Mašera A; Gale N; Ovčak Z; Glavač D
    Microsatellite instability in various types of tumors in Slovenian patients
    1997
  80. Dolžan Vita
    Analiza gena CYP21B pri bolnicah s funkcionalnim hiperandrogenizmom
    1997
  81. Glavač Damjan; Neumann Hartmut PH; Wittke Claudia; Jaenig Hendrik; Mašek Otakar; Streicher Teodor; Pausch Friederike; Engelhardt Dieter; Plate Karl H; Hoefler Heinz; Chen Fan; Zbar Berton; Brauch Hiltrud
    Mutations in the VHL tumor suppressor gene and associated lesions in families with von Hippel-Lindau disease from central Europe
    1996
  82. Zagradišnik Boris; Zidar Janez; Meznarič-Petruša Mija; Župančič Neža; Peterlin Borut
    The use of quantitative PCR for the detection of DMD/BMD carriers and duplications in the dystrophin gene
    1996
  83. Devilee P; Hermans J; Eyfjord J; Boorresen AL; Liderau R; Sobol H; Borg A; Cleton-Jansen AM; Olah E; Peterlin B
    Loss of heterozygosity at 7q31 in breast cancer: results from an International collaborative study group
    1997
  84. Uršič M; Fazarinc G; Zabavnik JP; Pogačnik A; Bavdek SV
    The incidence of the RYR 1 gene mutation in different pig breeds
    1997
  85. Bowden PE; Haley JL; Kansky A; Rothnagel JA; Jones DO; Turner RJ
    Mutation of a type II keratin gene (K6a) in pachyonychia congenita
    1995
  86. 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
  87. Gasparini P; Pignatti PF; Novelli G; Dallapiccola B; Nunes V; Casals T; Estivill X; Fernandez E; Balassopoulou A; Loukopoulos D; Lavinha J; Simova L; Komel R
    Mutation analysis in cystic fibrosis
    1990



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