biomedicina slovenica

re="Hum Genet" : 126

  1. Esko Tonu; Mezzavilla Massimo; Nelis Mari; Glavač Damjan
    Genetic characterization of northeastern Italian population isolates in the context of broader European genetic diversity
    2013 ►
  2. Tajnik M; Koenig J; Zarnack K; Glavač D; Ule J
    Minigene study of cryptic exons inclusion controlle by competition of hnRNP C. with the core splicing machinery
    2012 ►
  3. Rijavec M; Šilar M; Korošec P; Zidarn M; Košnik M
    Mutational analysis of SERPING1 gene in Slovenian patients with hereditary angioedema: four novel mutations
    2012 ►
  4. Balantič M; Rijavec M; Skerbinjek-Kavalar M; Šuškovič S; Šilar M; Košnik M; Korošec P
    Association between VEGF polymorphisms and asthma treatment response
    2012 ►
  5. Grošelj U; Hovnik T; Kovač J; Žerjav-Tanšek M; Battelino T
    Mutational analysis of phenylalanine hydroxylase gene in Slovenian patients with phenylketonuria: five novel mutations
    2011 ►
  6. Hovnik T; Kovač J; Trebušak-Podkrajšek K; Bratanič N; Battelino T
    Decreased INSRn autophosphorylation due to novel p.Leu795Pro mutation in beta-subunit in a patient with Donohue syndrome
    2011 ►
  7. Trebušak-Podkrajšek K; Stirn-Kranjc B; Hovnik T; Kovač J; Battelino T
    Mutational analysis in paediatric patients with X-linked and autosomal recessive forms of ocular albinism
    2011 ►
  8. 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 ►
  9. D'Adamo Patrizia; Fassone Lucia; Gedeon Agi; Janssen Emiel A
    The X-linked gene G4.5 is responsible for different infantile dilated cardiomyopathies
    1997 ►
  10. Orstavik Karen Helene; Orstavik Ragnhild E; Naumova Anna K; D'Adamo Patrizia
    X chromosome inactivation in carriers of Barth syndrome
    1998 ►
  11. 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 ►
  12. Giannandrea Maila; Bianchi Veronica; Mignogna Maria Lidia; D'Adamo Patrizia
    Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly
    2010 ►
  13. Boštjančič E; Zidar N; Štajer D; Glavač D
    MicroRNA expression profiling and bioinformatic analysis in human myocardial infarction with focus on innate immunity and ventricular rupture
    2011 ►
  14. Guelly Christian; Zhu Peng-Peng; Leonardis Lea; Papić Lea; Zidar Janez
    Targeted high-throughput sequencing identifies mutations in atlastin-1 as a cause of hereditary sensory neuropathy type I
    2011 ►
  15. Černe J; Stegel V; Frkovič-Grazio Ž; Pohar-Perme M; Novaković S; Geršak K
    Estogen metabolism, hormone replacement therapy use and risk of postmenopausal breast cancer
    2010 ►
  16. Maver A; Peterlin B
    Positional integratomic approach in identification of genomic candidate regions for Parkinson disease
    2010 ►
  17. Volk M; Maver A; Peterlin B
    Gene expression microarray analysis of amniotic fluid cells with trisomy 21
    2010 ►
  18. Biček A; Fratnik-Steyer A; Mandelc-Mazaj MJ; Pajič T
    Development of real-time PCR assay and comparison with RFLP genotyping of 49A/G CTLA-4
    2010 ►
  19. Boštjančič E; Zidar N; Glavač D
    MicroRNAs with a potential influence on SERCA2 protein expression in human myocardial infarction
    2010 ►
  20. Stražišar M; Mlakar V; Glavač D
    Alterations of LATS2, SPP1, STK11, VIPR1 and S100A2 are lung cancer type specific
    2010 ►
  21. Ravnik-Glavač Metka; Korošec B; Volavšek M; Glavač D
    Alterations in genes encoding sarcoplasmic-endoplasmic reticulum ca2+ pumps in association with head and neck squamous cell carcinoma
    2008 ►
  22. 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 ►
  23. Writzl K; Veble A; Volk M; Cerar V; Šajina-Stritar B; Pušenjak S; Peterlin B
    Mild/borderline ventriculomegaly as a marker for structural chromosome abnormalities
    2008 ►
  24. Ravnik-Glavač M; Berginc G; Bračko M; Glavač D
    Screening for germline mutations of MLH1, MSH2, MSH6 and PMS2 genes in Slovenian colorectal cancer
    2009 ►
  25. Mlakar V; Berginc G; Štor Z; Rems M; Glavač D
    Presence of activating KRAS mutations correlates significantly with expression of tumour suppressor genes DCN and TPM1 in colorectal cancer
    2009 ►
  26. Teran N; Gornjak-Pogorelc B; Neubauer D; Zidar J; Peterlin B
    Retrospective epidemiological study of spinal muscular atrophy in Slovenia
    2009 ►
  27. Boštjančič E; Zidar Nina; Štajer D; Glavač D
    Cardiac- and muscle-specific microRNAs miR-1, miR-133 and miR-208 dysregulation in human myocardial infarction
    2009 ►
  28. Biček A; Krhin B; Hojker S
    Functional variant of the PTPN22 gene associated with Graves disease predisposition in Slovenian population
    2009 ►
  29. Stražišar M; Mlakar V; Glavač D
    LATS2 tumour specific mutations and methylation of promoter in non-small cell carcinoma
    2009 ►
  30. Podgornik H; Prijatelj A; Černelč P
    Der(7;10)(p10;q10) in acute myeloid leukemia
    2008 ►
  31. Stražišar M; Glavač D; Rott T
    Novel somatic mutations in the S100A2 gene in non-small cell lung carcinoma (NSCLC)
    2008 ►
  32. Hajdinjak Tine; Zagradišnik Boris; Kokalj-Vokač Nadja; Kisner Karel
    Polymorphisms C825T in GNB3 gene and Pro/Leu at codon 10 in TGFbeta1 gene and the risk of prostate cancer
    2002 ►
  33. Kastrin A; Zadel M; Volk M; Peterlin B
    A statistical approach for predicting the clinical type of SMA using MLPA
    2008 ►
  34. Kastrin A
    RMetaWeb: Meta-analysis online tool
    2008 ►
  35. Kastrin A; Peterlin B
    Meta-analysis in the technology of DNA microarrays
    2008 ►
  36. Volk M; Kastrin A; Jaklič H; Zorn B; Peterlin B
    Male infertility and biotransformation enzyme gene polymorphisms
    2008 ►
  37. Biček A; Krhin B; Zaletel K; Hojker S
    49A/G and CT60 polymorphisms of the CTLA-4 gene associated with Grave's disease but not with Hashimoto's thyroiditis and postpartum thyroiditis
    2008 ►
  38. Glavač D; Šlajpah M; Meglič A; Vizjak A; Hvala A; Ravnik-Glavač M; Ferluga D
    Sixteen novel mutations identified in COL4A3, Col4A4 and COL4A5 genes in Slovenian families with alport syndrome and benign familial hematuria
    2007 ►
  39. Ravnik-Glavač M; Korošec B; Glavač D
    Alterations in ATP2A2 gene in correlation with colon and lung cancer
    2007 ►
  40. Medica Igor; Teran Nataša; Volk Marija; Pfeifer Vladimir; Ladavac Edi; Peterlin Borut
    Patients with primary cataract as a genetic pool of DMPK protomutation
    2007 ►
  41. Zagorac Andreja; Faganelj But Metka; Ranisav Lartey Nada; Erjavec Škerget Alenka; Prosnik Anica; Zagradišnik Boris; Kores-Plesničar Blanka; Kokalj-Vokač Nadja
    Male with delusional disorder, minor anomalies and apparently balanced chromosomal rearrangement 46,Y,inv(X)(p11.23q23)
    2007 ►
  42. Ribases M; Gratacos M; Fernandez-Aranda F; Bellodi L; Boni C; Anderluh M; Cristina Cavallini; Cellini E; Di Bella; Erzegovesi S; Foulon C; Gabrovsek M; Gorwood P; Hebebrand J; Hinney A; Holliday J; Hu X; Karwautz A; Kipman A; Komel R; Nacmias B; Remschmidt H; Ricca V; Sorbi S; Tomori M; Wagner G; Treasure J; Collier DA; Estivill X
    Association of BDNF with restricting anorexia nervosa and minimum body mass index: a family-based association study of eight European populations
    2005 ►
  43. Lovrečić L; Kastrin A; Kobal J; Peterlin B
    Genomic biomarkers for Huntington's disease
    2007 ►
  44. Medica I; Kastrin A; Maver A; Peterlin B
    Role of genetic polymorphisms in ACE and TNF-alpha gene in sarcoidosis: a meta-analysis
    2007 ►
  45. Celhar T; Geršak K; Ovčak Z; Sedmak B; Mlinarič-Raščan I
    Analysis of the microsatellite (tttta), polymorphism of the CYP11A1 gene in patients with prostate cancer
    2007 ►
  46. Ferk P; Teran N; Geršak K
    The (TAAAA). microsatellite polymorphism in the SHBG gene influences serum SHBG levels in women with polycystic ovary syndrome
    2007 ►
  47. Lovrečič L; Ristić S; Starčević-Čizmarević N; Šega-Jazbec S; Sepčič J; Brajenović-Milić B; Kapović M; Peterlin B
    Plasminogen activator inhibitor-1 (PAI-1) genetic polymorphism and its role in the progression of multiple sclerosis
    2006 ►
  48. Volk M; Ostojić S; Meden-Vrtovec H; Peterlin B
    Interleukin 12B and interleukin 18 gene polymorphisms in women with recurrent spontaneous abortion
    2006 ►
  49. Writzl K; Peterlin B
    A novel deletion of SATB2 is associated with cleft palate
    2006 ►
  50. Ferk P; Pohar M; Teran N; Geršak K
    Androgen receptor gene (CAG)n polymorphism in patients with polycystic ovary syndrome
    2006 ►
  51. Stražišar M; Smerkolj S; Ravnik-Glavač M; Glavač D
    RASSF1A hypermethylation status in MSI low and MSI high colorectal carcinomas
    2006 ►
  52. Glavač D; Korošec B; Bergant D; Ravnik-Glavač M
    Molecular diagnostics of multiple endocrine neoplasia type 2 (MEN II) in Slovenia
    2006 ►
  53. Stražišar M; Smerkolj S; Brauch H; Evfremov G; Maček M; Medica I; Terzić R; Glavač D
    Screening for genetic alterations in PRNP gene of six different populations with determination of codon 129 genotype - a multicentre study
    2005 ►
  54. Medica I; Rudolf G; Balaban M; Prpič I; Stanojević M; Peterlin B
    Implications of del35G/GJB2 mutation analysis in evaluation of hearing impairment
    2004 ►
  55. Medica I; Rudolf G; Maver A; Teran N; Jaklič H; Peterlin B
    No evidence of del(GJB6-D13S1830) mutation in prelingually non-syndromic hearing impaired Croatians and Slovenians
    2006 ►
  56. Stangler-Herodež S; Zagradišnik B; Erjavec-Škerget A; Zagorac A; Vlaisavljević V; Kokalj-Vokač N
    Analysis of genetic factors in male patients affected with infertility
    2006 ►
  57. Zagorac A; Erjavec-Škerget A; Zagradišnik B; Zver S; Glaser M; Kokalj-Vokač N
    Cytogenetic abnormalities in a case with plasmacytoid dendritic cell leukemia
    2006 ►
  58. Teran N; Zidar J; Flisar D; Peterlin B
    Prevelence of myotonic dystrophy type 1 in Slovenia
    2005 ►
  59. Volk M; Peterlin B; Meden-Vrtovec H; Vojtaššak J; Ostojič S; Geršak K
    Coagulation factor polymorphisms in women with recurrent spontaneous abortion (RSA)
    2005 ►
  60. Ferk P; Geršak K; Teran N
    No association of the polymorphisms (TTTTA)n in the CYP11A gene and VNTR in the INS gene with polycystic ovary syndrome
    2005 ►
  61. Starčević-Čizmarević N; Štepec S; Ristič S; Milić S; Brajenović-Milić B; Štimac D; Kapović M; Peterlin B
    C282Y, H63D and S65C mutations of the hemochromatosis gene (HFE) in patients with alcoholic cirrhosis
    2005 ►
  62. Ristić S; Lovrecic L; Brajenović-Milić B; Starčević-Čizmarević N; Šega-Jazbec S; Sepčič J; Kapović M; Peterlin B
    Mutations in the hemochromatosis gene (HFE) and multiple sclerosis
    2005 ►
  63. Writzl K; Kunej T; Zorn B; Virant-Klun I; Brezigar A; Peterlin B
    Success of intracytoplasmic sperm injection in infertile men with chromosome abnormalities
    2005 ►
  64. Stangler-Herodež Š; Zagradišnik B; Erjavec-Škerget A; Zagorac A; Kokalj-Vokač N
    Comparison of different methods for the detection of PMP22 gene deletions and duplications
    2005 ►
  65. Zagradišnik B; Stangler-Herodež Š; Erjavec-Skerget A; Zagorac A; Kokalj-Vokač N
    Detection of numeric chromosomal aberrations using multiplex ligation-dependent probe amplification
    2005 ►
  66. Erjavec-Skerget A; Stangler-Herodež Š; Zagorac A; Zagradišnik B; Kokalj-Vokač N
    Comparing different molecular cytogenetics methods for detecting subtelomeric rearrangements
    2005 ►
  67. Zagradišnik B; Bračič K; Gregorič A; Kokalj-Vokač N
    Absence of mutations in genes AGTR2 and UPK3 in patients with vesico-ureteric reflux
    2003 ►
  68. Glavač D
    Mutations in the Col4a4 gene in relation to familial hematuria
    2003 ►
  69. Peterlin B; Kunej T; Hristovski D; Džeroski S
    Prognostic value of Y chromosome microdeletions for sperm retrieval
    2003 ►
  70. Zagorac A; Marčun-Varda N; Kanič Z; Bračič K; Gregorič A; Erjavec-Škerget A; Zagradišnik B; Kokalj-Vokač N
    De novo der(13)t(10;13)(q23.3;q34) with features of distal trisomy 10q: a case report
    2003 ►
  71. Writzl K; Veble A; Grosek Š; Peterlin B
    Anal atresia in a patient with the 18q21 deletion
    2003 ►
  72. Erjavec-Škerget A; Zagorac A; Zagradišnik B; Kokalj-Vokač N
    Subtelomeric chromosome rearrangements in mentaly retarded and/or dimorphic patients from north-eastern Slovenia
    2003 ►
  73. Ravnik-Glavač M
    Identification of novel genes with somatic frameshift mutations within coding mononucleotide repeats in colorectal tumors with high microsatellite instability
    2003 ►
  74. Bache Iben; Van Assche Elvire; Cingoz Sultan; Bugge Merete; Tuemer Zeynep; Hjorth Mads; Lundsteen Claes; Lespinasse James; Winther Kirsten; Kokalj-Vokač Nadja
    An excess of chromosome 1 breakpoints in male infertility
    2004 ►
  75. Writzl K; Zorn B; Peterlin B
    Increased copy number of DAZ genes in subfertile men
    2004 ►
  76. Ferk P; Geršak K; Teran N
    Association between the microsatellite polymorphism (TTTTA)n in the promoter of the CYP11A gene and ovarian hyperstimulation syndrome
    2004 ►
  77. Krajc Mateja; de Greve Jacques; Goelen Guido; Teugels Erik
    BRCA2 founder mutation in Slovenian breast cancer families
    2002 ►
  78. Zagradišnik B; Bračič K; Marčun-Varda N; Kokalj-Vokač N; Gregorič A
    Sequence variation in uroplakin 1b gene is associated with vesico-ureteric reflux
    2004 ►
  79. Kokalj-Vokač N; Marčun-Varda N; Zagorac A; Erjavec-Skerget A; Zagradišnik B; Todorovič M; Gregorič A
    Subterminal deletion/duplication event in an affected male due to maternal X chromosome pericentric inversion
    2004 ►
  80. 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 ►
  81. 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 ►
  82. Korošec B; Caserman S; Bergant D; Ravnik-Glavač M; Glavač D
    Mutational analyses of the ret proto-oncogene in Slovenian Men2 families
    2001 ►
  83. Globočnik-Petrovič Mojca; Hawlina Marko; Peterlin Borut; Petrovič Daniel
    BgIII gene polymorphism of the alpha2beta1 integrin gene is a risk factor for diabetic retinopathy in Caucasian with type 2 diabetes
    2003 ►
  84. Writzl K; Peterlin B
    A reccurent deletion in nemo gene in Slovene patients with incontinentia pigmenti
    2002 ►
  85. Milič A; Piluso G; Ventriglia V; Damico F; Kovač B; Trlaja A; Mitrovič Z; Zurak N; Politano L; Canki-Klain N
    Mutation spectrum of CAPN3 gene in LGMD2A patients in Croatia
    2002 ►
  86. Kokalj-Vokač N; Zver S; Erjavec A; Zagradišnik B; Zagorac A; Žontar D; Černelč P
    Do some additional chromosome rearrangements mean a favourable T-cell prolymphocytic leukemia prognosis with preserved alkylator based treatment sensitivity?
    2002 ►
  87. Podpečnik D; Potočnik U; Ravnik-Glavač M; Wine J; Novak A; Krašovec T; Glavač D
    Nucleotide diversity in beta globin for non-human primates
    2001 ►
  88. Šlajpah M; Vizjak A; Hvala A; Koselj M; Bidovec M; Gorinšek B; Ravnik-Glavač M; Ferluga D; Glavač D
    Identification of the COL4A5 gene mutations in Slovenian alport syndrome families
    2001 ►
  89. Zagradišnik B; Bračič K; Gregorič A; Kokalj-Vokač N
    G protein beta3 subunit gene C825T polymorphism in patients with vesico-ureteric reflux
    2001 ►
  90. Milič A; Kovač B; Leturcq F; Zurak N; Canki-Klain N
    High incidence of 550delA mutation in limb-girdle muscular dystrophy type 2A (LGMD2A) in Croatia
    2001 ►
  91. Medica I; Teran N; Sepčič J; Ristič S; Brajenovič B; Peterlin B
    Woodhouse-sakati syndrome: report of a patient
    2001 ►
  92. Peterlin B; Babnik J; Writzl K; Debevec M
    Trisomy 13/trisomy 21 mosaicism in a girl child
    2001 ►
  93. Potočnik U; Ravnik-Glavač M; Golouh R; Glavač D
    The role of P-glycoprotein (MDR1) polymorphisms and mutations in colorectal cancer
    2001 ►
  94. Rossetti Sandro; Strmecki Lana; Gamble Vicki; Burton Sarah; Sneddon Vicky; Peral Belen; Roy Sushmita; Bakkaloglu Aysin; Komel Radovan
    Mutation analysis of the entire PKD1 gene egenetic and diagnostic implications
    2001 ►
  95. Zagradišnik B; Potočnik-Dajčman N; Gajšek M; Kokalj-Vokač N
    Lack of association between a G-protein beta3-gene C825T polymorphism and attention deficit hyperactivity disorder
    2002 ►
  96. Rosser Zooe H; Zerjal Tatiana; Hurles Matthew E; Adojaan Maarja; Alavantic Dragan; Amorim Antonio; Amos William; Armenteros Manuel; Arroyo Eduardo; Barbujani Guido; Peterlin Borut
    Y-chromosomal diversity in Europe is clinal and influenced primarily by geography, rather than by language
    2000 ►
  97. 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 ►
  98. Stephens JC; Reich DE; Goldstein DB; Shin HD; Smith MW; Carrington M; Winkler C; Huttley GA; Allikmets R; Glavač D
    Dating the origin of the CCR5-Delta32 AIDS-resistance allele by the coalescence of haplotypes.
    1998 ►
  99. Kokalj-Vokač Nadja; Zagorac A; Medica I
    Identification of derivative chromosome 21 using cytocell's chromoprobe multiprobe system
    1999 ►
  100. Zagorac Andreja; Kokalj-Vokač N; Medica I; Vidulin S
    Affected child with marker chromosome 14 detected by FISH
    1998 ►

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