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biomedicina slovenica |
"HOMOZYGOTE" : 54
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Plemenitaš Ilješ Anja; Kores-Plesničar Blanka; Dolžan Vita
Associations of NLRP3 and CARD8 gene polymorphisms with alcohol dependence and commonly related psychiatric disorders
2021 ►
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Cilenšek Ines; Lapuh Valentina; Globočnik Petrovič Mojca; Petrovič Danijel
HDAC9 rs11984041 polymorphism is associated with diabetic retinopathy in Slovenian patients with type 2 diabetes mellitus
2021 ►
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Mankoč Ramuš Sara; Pungeršek Gregor; Globočnik Petrovič Mojca; Petrovič Danijel
The GG genotype of erythropoietin rs1617640 polymorphism affects the risk of proliferative diabetic retinopathy in Slovenian subjects with type 2 diabetes mellitus
2021 ►
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Merlo Sebastjan; Nikolajević-Starčević Jovana; Mankoč Ramuš Sara; Šantl-Letonja Marija; Cokan Vujkovac Andreja; Kruzliak Peter; Petrovič Danijel
Polymorphisms rs699 and rs4762 of the angiotensinogen gene and progression of carotid atherosclerosis in patients with type 2 diabetes mellitus
2016 ►
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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 ►
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Redenšek Sara; Flisar Dušan; Kojović Maja; Gregorič Kramberger Milica; Georgiev Dejan; Pirtošek Zvezdan; Trošt Maja; Dolžan Vita
Dopaminergic pathway genes influence adverse events related to dopaminergic treatment in Parkinson's disease
2019 ►
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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 ►
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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 ►
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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 ►
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Grošelj Urh; Oražem Miha; Kanič Maja; Vidmar Gaj; Grosek Štefan
Experiences of slovene ICU physicians with end-of-life decision making
2014 ►
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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 ►
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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 ►
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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 ►
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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 ►
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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 ►
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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 ►
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Mlinar B; Ferk P; Pfeifer M; Geršak K; Marc J
Lipin 1 gene polymorphisms in polycystic ovary syndrome
2011 ►
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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 ►
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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 ►
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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 ►
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Zaputovic Sanja; Stanojevic Milan; Medica Igor; Peterlin Borut; Petrovic Oleg
Incidence of the 35delG/GJB2 mutation in low-risk newborns
2008 ►
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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 ►
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Trontelj Jurij; Marc Janja; Zavratnik Andrej; Bogataj Marija; Mrhar Aleš
Effects of UGT1A1*28 polymorphism on raloxifene pharmacokinetics and pharmacodynamics
2009 ►
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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 ►
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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 ►
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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 ►
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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 ►
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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 ►
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Terzić Rifet; Šehić Amela; Teran Nataša; Terzić Ibrahim; Peterlin Borut
Frequency of HFE gene mutations C282Y and H63D in Bosnia and Herzegovina
2006 ►
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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 ►
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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 ►
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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 ►
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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 ►
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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 ►
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Kamhi T; Sedmak M
Homozigotno pomanjkanje alfa 1-antitripsina - prikaz kliničnega primera
[Homozygous alpha 1-antitrypsin deficiency - case report]
2004 ►
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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 ►
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Wine Jeffrey J; Dean Michael; Glavač Damjan
Natural animal models of human genetic diseases
2002 ►
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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 ►
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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 ►
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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 ►
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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 ►
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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 ►
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Srovin Tina
Razvoj nove diagnostične metode za hitro in zanesljivo ugotavljanje mutacije CCR5delta32
2001 ►
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Frisch H; Battelino T; Schober Edith; Baumgartner-Parzer Sabina; Nowotny P; Vierhapper H
Salt wasting in simple virilizing congenital adrenal hyperplasia
2001 ►
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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 ►
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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 ►
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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 ►
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Lavrenčič Aleša; Kosmina Barbara; Keber Irena; Videčnik Viktor; Keber Dušan
Carotid intima-media thickness in young patients with familial hypercholesterolaemia
1996 ►
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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 ►
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Uršič M; Fazarinc G; Zabavnik JP; Pogačnik A; Bavdek SV
The incidence of the RYR 1 gene mutation in different pig breeds
1997 ►
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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 ►
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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 ►
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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 ►
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Štern Artur
Tipi serumskih transferinov v povezavi s plodnostjo lipicancev
1991 ►
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Institute for Biostatistics and Medical Informatics