biomedicina slovenica

"CYTOGENETICS" : 194

  1. Genetica
    1919 ►
  2. Watad Abdulla; Kačar Mark; Bragazzi Nicola Luigi; Zhou Qiao; Jassam Miriam; Taylor Jan; Roman Eve; Smith Alexandra; Jones Richard A.; Amital Howard
    Somatic mutations and the risk of undifferentiated autoinflammatory disease in MDS
    2021 ►
  3. Zagradišnik Boris; Krgović Danijela; Stangler Herodež Špela; Zagorac Andreja; Čizmarevič Bogdan; Kokalj-Vokač Nadja
    Identification of genomic copy number variations associated with specific clinical features of head and neck cancer
    2018 ►
  4. Stavber Lana; Bertok Sara; Kovač Jernej; Volk Marija; Lovrečić Luca; Battelino Tadej; Hovnik Tinka
    Characterization of a de novo sSMC 17 detected in a girl with developmental delay and dysmorphic features
    2017 ►
  5. Stangler Herodež Špela; Erjavec Škerget Alenka; Kokalj-Vokač Nadja
    Medicinska biotehnologija za študente biologije
    2011 ►
  6. Erjavec Škerget Alenka; Stangler Herodež Špela; Zagorac Andreja; Zagradišnik Boris; Kokalj-Vokač Nadja
    Detection of subtelomeric chromosome rearrangements in children with idiopathic mental retardation: choise of molecular and cytogenetics methods
    2006 ►
  7. Kokalj-Vokač Nadja; Zagorac Andreja; Erjavec Škerget Alenka; Marčun-Varda Nataša; Krajnc Olga; Zagradišnik Boris
    Two cases with appearently the same subtelomeric unbalanced rearrangements and different phenotypes
    2006 ►
  8. Marie Curie Conferences and Training Courses on arrayCGH and Molecular Cytogenetics
    2006 ►
  9. Hajdinjak Tine
    Editorial comment
    2009 ►
  10. Kokalj-Vokač Nadja
    Predavanja iz predmeta Genetika
    2007 ►
  11. Kokalj-Vokač Nadja
    Predavanja iz predmeta Molekularna biologija
    2007 ►
  12. Kokalj-Vokač Nadja
    Predavanja iz predmeta Genetika in molekularna biologija
    2007 ►
  13. Stangler Herodež Špela; Zagradišnik Boris; Zagorac Andreja; Kokalj-Vokač Nadja
    Navodila za vaje iz molekularne biologije
    2007 ►
  14. Vrečar Irena; Rudolf Gorazd; Peterlin Borut; Lovrečić Luca
    Brachytelephalangic chondrodysplasia punctata caused by new small hemizygous deletion in a boy presenting with hearing loss
    2015 ►
  15. Krgović Danijela; Zagorac Andreja; Marčun-Varda Nataša; Zagradišnik Boris; Erjavec Škerget Alenka; Stangler Herodež Špela; Kokalj-Vokač Nadja
    Molecular karyotyoping [i. e. karyotyping] of children with idiopathic mental retardation and/or dysmorphic features in Slovenian population
    2011 ►
  16. Erjavec Škerget Alenka; Stangler Herodež Špela; Zagorac Andreja; Zagradišnik Boris; Kokalj-Vokač Nadja
    Uporaba primerjalne genomske hibridizacije kot diagnostične metode v medicinskem genetskem laboratoriju
    [The use of comparative genomic hybridization as a diagnostic tool in medical genetics laboratories]
    2011 ►
  17. Druškovič Blanka; Paradiž Jasna; Bavcon Jože
    Citogenetska raziskava rastlin na območju občine Škofja Loka
    1995 ►
  18. Kokalj-Vokač Nadja; Čizmarevič Bogdan; Zagorac Andreja; Zagradišnik Boris; Lanišnik Boštjan
    An evaluation of SOX2 and hTERC gene amplifications as screening markers in oral and oropharyngeal squamous cell carcinomas
    2014 ►
  19. Debeljak Maruša; Kitanovski Lidija; Pajič Tadej; Jazbec Janez
    Concordant acute myeloblastic leukemia in monozygotic twins with germline and shared somatic mutations in the gene for CCAAT-enhancer-binding protein [alpha] with 13 years difference at onset
    2013 ►
  20. Zver Samo; Skopec Barbara; Podgornik Helena; Reberšek Katarina; Mlakar Uroš
    Incidenca in zdravljenje diseminiranega plazmocitoma na Kliničnem oddelku za hematologijo v UKC Ljubljana v obdobju 2008-2011
    [Incidence and treatment of multiple myeloma at the Department of Hematology of the University Medical Centre Ljubljana in the period 2008-2011]
    2012 ►
  21. Sever Matjaž; Podgornik Helena; Mlakar Uroš; Černelč Peter
    Lastnosti bolnikov z mielodisplastičnim sindromom in njihova obravnava na kliničnem oddelku za hematologijo, UKC Ljubljana, v obdobju 2008-2012
    [Myelodysplastic syndrome patient characteristics and treatment at University medical center Ljubljana between 2008-2012]
    2012 ►
  22. Černelč Peter; Kodre Veronika
    Ocena učinkovitosti prvega zdravljenja z bortezomibom pred avtologno presaditvijo krvotvornih matičnih celic pri diseminiranem plazmocitomu
    [Effectiveness of first treatment with bortezomib prior to autologous stem cell transplantation for multiple myeloma]
    2012 ►
  23. Podgornik Helena; Pretnar Jožef; Černelč Peter
    CBFB disruption due to a novel translocation t(16;17)(q22;125)
    2011 ►
  24. Krgović Danijela; Marčun-Varda Nataša; Zagorac Andreja; Kokalj-Vokač Nadja
    Submicroscopic interstitial deletion of chromosome 11q22.3 in a girl with mild mental retardation and facial dysmorphism: case report
    2011 ►
  25. Kokalj-Vokač Nadja
    Nove tehnologije določajo smernice postnatalne citogenetske diagnostike
    2011 ►
  26. Zagradišnik Boris
    Vloga naprednih tehnologij v prenatalni diagnostiki
    2011 ►
  27. Podgornik Helena; Jazbec Janez
    Uporaba panelov FISH pri otroških akutnih levkemijah
    [FISH panels for pediatric acute leukemias]
    2010 ►
  28. Geršak K; Writzl K; Veble A; Liehr T
    Primary amenorrhoea in a patient with mosaicism for monosomy X and a derivative X-chromosome
    2010 ►
  29. Mlakar Uroš
    Smernice za odkrivanje in zdravljenje mielodisplastičnih sindromov pri odraslih
    [Guidelines for the diagnosis and treatment of myelodysplastic syndromes in adult]
    2010 ►
  30. Gale Nina; Zidar Nina
    Benigne und potentiell maligne Laesionen des Plattenepithels und Plattenepithelkarzinom
    2009 ►
  31. Sakr Wael A; Gale Nina; Gnepp Douglas R; Crissman John D
    Squamous intraepithelial neoplasia of the upper aerodigestive tract
    2009 ►
  32. Kokalj-Vokač Nadja; Kodrič Tatjana; Erjavec Škerget Alenka; Zagorac Andreja; Takač Iztok
    Screening of TERC gene amplification as an additional genetic diagnostic test in detection of cervical preneoplastic lesions
    2009 ►
  33. Veble A; Volk M; Writzl K; Dolničar B; Remec Ž; Kmecl J; Valentinčič-Gruden B; Virant-Klun I; Tomaževič T; Peterlin B
    Results from 4 years of preimplantation genetic diagnostics using fluorescent in situ hybridization (FISH) method in Slovenia
    2009 ►
  34. Podgornik H; Fink M; Pajič T; Černelč P
    Translocation t(8;17;16)(p11;q21;p13), a new variant of t(8;16)(p11;p13)
    2009 ►
  35. Smogavec Mateja; Yagorac Andreja; Kokalj-Vokač Nadja
    Kromosomske nepravilnosti pri neplodnosti
    [Chromosome abnormalities in infertility]
    2009 ►
  36. Celhar Teja; Geršak Ksenija; Ovčak Zdenka; Sedmak Boris; Mlinarič-Raščan Irena
    The presence of the CYP11A1 (TTTTA)6 allele increases the risk of biochemical relapse in organ confined and low-grade prostate cancer
    2008 ►
  37. Korošec Branka; Glavač Damjan; Volavšek Metka; Ravnik-Glavač Metka
    Alterations in genes encoding sarcoplasmic-endoplasmic reticulum Ca(2+) pumps in association with head and neck squamous cell carcinoma
    2008 ►
  38. Podgornik H; Kavčič H; Černelč P; Jazbec J
    AML1 amplification detected by FISH on the archived bone marrow smear
    2007 ►
  39. Kokalj-Vokač Nadja; Hajdinjak Tine; Zagorac Andreja; Erjavec Škerget Alenka; Kavalar Rajko; Kisner Karel
    Non-invasive bladder cancer detection by M-FISH on urine samples: Slovenian experience
    2007 ►
  40. Podgornik Helena; Prijatelj Alenka; Černelč Peter
    Citogenetske preiskave pri slovenskih bolnikih z akutno levkemijo
    [Cytogenetic analysis in Slovenian acute leukemia patients]
    2008 ►
  41. Modic Mojca; Škerget Matevž
    Uspehi zdravljenja akutne limfoblastne levkemije odraslih s ptorokolom UKALL XII na Hematološkem oddelku v Ljubljani
    [Treatment of acute lymphoblastic leukemia in adults with UKALL XII protocol]
    2008 ►
  42. Podgornik H; Debeljak M; Žontar D; Černelč P; Prestor VV; Jazbec J
    RUNX1 amplification in lineage conversion of childhood B-cell acute lymphoblastic leukemia to acute myelogenous leukemia
    2007 ►
  43. Korošec Branka; Glavač Damjan; Rott Tomaž; Ravnik-Glavač Metka
    Alterations in the ATP2A2 gene in correlation with colon and lung cancer
    2006 ►
  44. Zver Samo; Sever Matjaž
    Sodobni diagnostični postopki za ugotavljanje levkemij in malignih limfomov
    [The modern diagnostic approach to finding leukemia and malignant lymphoma]
    2006 ►
  45. Stangler-Herodež Špela; Zagradišnik Boris; Erjavec-Škerget Alenka; Zagorac Andreja; Kokalj-Vokač Nadja
    Molecular-genetics and molecular-cytogenetics methods by diagnosis of herediatry motor and sensory neuropathy (HMSN) type 1A
    [Molekularno-genetske in molekularno citogenetske tehnike pri diagnostiki hereditarne mišično senzorne nevropatije (HMSN) tipa 1A]
    2006 ►
  46. Writzl K; Zorn B; Peterlin B
    Analysis of DAZ gene copy number in patients with oligozoospermia or azoospermia
    2003 ►
  47. Writzl K; Veble A; Šajina-Stritar B; Premru-Sršen T; Peterlin B
    Prenatal diagnosis of tetrasomy 9p
    2005 ►
  48. Kokalj-Vokač Nadja; Zagradišnik Boris; Zagorac Andreja; Erjavec-Škerget Alenka; Stangler-Herodež Špela
    Sodobne metode genetske diagnostike v perinatologiji
    [Contemporary methods of genetic diagnostics in perinatology]
    2006 ►
  49. Erjavec-Škerget Alenka
    Presejalni testi za iskanje kromosomskih sprememb pri idiopatski duševni manjrazvitosti
    2006 ►
  50. Kopčavar-Guček Nena
    Kaj bi jedli? Poglejte v svoj genom
    2005 ►
  51. Stangler-Herodež Špela; Zagradišnik Boris; Zagorac Andreja; Kokalj-Vokač Nadja
    Navodila za vaje iz molekularne biologije
    2005 ►
  52. Novaković Srdjan
    Predstavitev Oddelka za molekularno diagnostiko
    2005 ►
  53. Stangler-Herodež Špela; Zagradišnik Boris; Kokalj-Vokač Nadja
    Rapid prenatal diagnosis of chromosomal aneuploidy with multiplex ligation-dependent probe amplification (MLPA)
    [Hitra prenatalna diagnostika kromosomskih anevploidij z MLPA (multiplex ligation-dependent probe amplification - hkratno pomnoževanje od ligacije odvisnih sond)]
    2005 ►
  54. Kokalj-Vokač Nadja; Zagorac Andreja; Erjavec Alenka; Zagradišnik Boris
    Molecular cytogenetic technologies in cancer diagnostics
    [Molekularne citogenetske tehnike pri diagnostiki raka]
    2005 ►
  55. Glavač Damjan
    Molecular diagnostics in medicine: the best is yet to come!
    [Molekularna diagnostika v medicini: najboljše šele pride!]
    2005 ►
  56. Luzar Boštjan; Poljak Mario; Glavač Damjan; Balažic Jože
    Molekularna diagnostika v medicini. Zbornik 15. spominsko srečanje akademika Janeza Milčinskega, 36. memorialni sestanek profesorja Janeza Plečnika, 1. srečanje Slovenskega društva za humano genetiko z mednarodno udeležbo; 2005 30 nov - 2 dec; Ljubljana
    2005 ►
  57. Černelč Peter; Modic Mojca
    Pomen novejših bioloških kazalcev za oceno prognoze pri bolnikih s kronično limfocitno levkemijo
    [The importance of the new biological markers for assessing the prognosis in patients with chronic lymphocytic leukemia]
    2005 ►
  58. Erjavec-Skerget A; Stangler-Herodež Š; Zagorac A; Zagradišnik B; Kokalj-Vokač N
    Comparing different molecular cytogenetics methods for detecting subtelomeric rearrangements
    2005 ►
  59. Zagradišnik B; Stangler-Herodež S; Erjavec-Skerget A; Zagorac A; Kokalj-Vokač N
    Alternative approach to the detection of numeric chromosomal aberrations
    2005 ►
  60. Erjavec-Skerget A; Stangler-Herodež S; Zagorac A; Zagradišnik B; Kokalj-Vokač N
    Comparing subtelomeric FISH, CGH and MLPA methods for detecting subtelomeric rearrangements in mental retardation
    2005 ►
  61. Stangler-Herodež S; Zagradišnik B; Erjavec-Skerget A; Zagorac A; Kokalj-Vokač N
    Utilization of different methods in diagnosis of CMT1A/HNPP
    2005 ►
  62. Bregant L; Geršak K; Veble A
    Distal trisomy 10q / partial monosomy 14q: an unusual clinical picture
    2005 ►
  63. Stangler-Herodež Špela; Zagradišnik Boris; Kokalj-Vokač Nadja
    Analiza človeškega genoma
    2005 ►
  64. Zagorac A; Lobnik-Krunič B; Zagradišnik B; Erjavec-Škerget A; Kokalj-Vokač N
    Identification of an unbalanced cryptic translocation between the chromosomes 8 and 21 in a boy with mild mental retardation accompained by mild dysmorphic features
    2003 ►
  65. Erjavec-Škerget A; Zagorac A; Zagradišnik B; Kokalj-Vokač N
    Subtelomeric chromosome rearrangements in mentally retarded and/or dysmorphic patients from north-eastern Slovenia
    2003 ►
  66. Veble A; Writzl K; Peterlin B
    Complete karyotypic discordance between villus stroma and fetus. Case report
    2003 ►
  67. 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 ►
  68. Stangler-Herodež Špela; Zagradišnik Boris; Zagorac Andreja; Kokalj-Vokač Nadja
    Navodila za vaje iz molekularne biologije (skripta)
    2004 ►
  69. Vogt Nicolas; Lefevre Sandrine-Helene; Apiou Francoise; Dutrillaux Anne-Marie; Coer Andrej; Leuraud Pasacal; Poupon Marie-France; Dutrillaux Bernard; Debatisse Michelle; Malfoy Bernard
    Molecular structure of double-minute chromosomes bearing amplified copies of the epidermal growth factor receptor gene in gliomas
    2004 ►
  70. Jarc Maja; Grmek-Zemljič Tatjana; Roškar Zlatko
    Uporaba celičnih označevalcev v diagnostiki krvnih bolezni - prikaz primerov
    [Application of immunophenotyping in diagnostics of hematological diseases - case report]
    2004 ►
  71. Modic Mojca; Sever Matjaž
    Naše izkušnje zdravljenja kronične mieloične levkemije z imatinib mesilatom
    [Our experience with treatment of chronic myeloid leukemia with imatinib mesylate]
    2004 ►
  72. Podgornik Helena; Pajič Tadej; Kokalj-Vokač Nadja; Zagorac Andreja; Rupreht Ruth; Černelč Peter
    Citogenetične in molekularnogenetične preiskave pri ugotavljanju kronične mieloične levkemije in spremljanju zdravljenja
    [The role of cytogenetics and molecular genetics in diagnosis of chronic myeloid leukemia and monitoring of treatment response]
    2004 ►
  73. Lalić Hrvoje; Volavšek Črtomir; Radošević-Stašić Biserka
    Chromosomal instability and double minute chromosomes in a breast cancer patient
    2004 ►
  74. Peterlin Borut; Writzl Karin
    Humana genetika
    2003 ►
  75. Modic Mojca
    Pomen citogenetičnih preiskav za opredelitev akutnih levkemij
    2003 ►
  76. Černelč Peter
    Novosti pri ugotavljanju in zdravljenju bolezni krvi in krvotvornih organov
    2003 ►
  77. Oosterhuis Wolter J; Looijenga Leendert HJ
    Molecular biology of testicular germ cell tumours
    2003 ►
  78. Hauben EI
    Update on aneurysmal bone cyst
    2003 ►
  79. Llombart-Bosch Antonio; Lopez-Guerrero Jose Antonio
    Molecular biology of osteo and chondrosarcomas
    2003 ►
  80. Guillou Louis
    Molecular biology of spindle cell tumors
    2003 ►
  81. Kayser Klaus; Kosjerina Zdravko; Kasmierczak Bernd; Hillmann Christin; Vollmer Ekkehard; Goldmann Torsten; Kayser Gian
    Squamous metaplasia and dysplasia - lesions associated to bronchial carcinomas?
    2003 ►
  82. Cassani B; Bulfamante G
    Applications of cytogenetic and molecular investigation to foetal and neonatal pathology
    2003 ►
  83. de Alava Enrique
    Molecular diagnosis of Ewing tumor
    2003 ►
  84. 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 ►
  85. Peterlin Borut; Teran Nataša
    Organizacija medicinske genetike v Sloveniji
    2001 ►
  86. Zagorac A; Zagradišnik B; Kokalj-Vokač N
    Comparative genomic hybridization and conventional cytogenetic analysis in a case with acute myeloid leukemia
    2003 ►
  87. Kokalj-Vokač N
    Clinical implication of cytogenetics in hematological malignancies
    2003 ►
  88. Volavšek Črtomir
    Diagnostične metode v medicinski genetiki
    2002 ►
  89. Zver Samo; Modic Mojca; Žontar Darja
    Opredelitev akutnih limfoblastnih levkemij s celičnimi imunološkimi označevalci
    [Immunological classification of acute lymphoblastic leukemias]
    2002 ►
  90. Šalgaj L; Kokalj-Vokač N
    Citogenetska analiza
    2001 ►
  91. Kokalj-Vokač N; Ciglenečki-Seme P; Zagorac A; Erjavec A; Zagradišnik B
    Reactivation of duplicated region on inactive der(X) chromosome in a girl with abnormal clinical findings
    2001 ►
  92. Potočnik U; Glavač D; Golouh R; Ravnik-Glavač M
    Causes of microsatellite instability in colorectal tumors: implications for hereditary non-polyposis colorectal cancer screening
    2001 ►
  93. Pavelić Jasminka
    Otkrivanje zaraze uzrokovane bakterijama roda Chlamydia molekularno-genetičkim metodama
    [Detection of Chlamydia infection by molecular-genetic methods]
    2001 ►
  94. Seeman P; Mazanec R; Zidar J; Hrusakova S; Ctvrteckova M; Rautenstrauss B
    Charcot-Marie-Tooth disease type 1A (CMT1A) and hereditary neuropathy with liability to pressure palsies (HNPP): reliable detection of the CMT1A duplication and HNPP deletion using 8 microsatellite markers in 2 multiplex PCRs
    2000 ►
  95. Jančar Janez
    Progress in the classification of hematological neoplasms. From REAL to WHO concept
    2000 ►
  96. Bavcon J; Druškovič B; Gogala N
    Five year effects of ultraviolet-B irradiation on Norway spruce Picea abies (L.) karts. seedlings
    2000 ►
  97. Guttenberger Helmut; Borzan Želimir; Schlarbaum Scott E; Hartman Tom PV
    Cytogenetic studies of forest trees and shrubs: review, present status, and outlook on the future. Proceedings of the 2nd IUFRO cytogenetics working party S2.04.08 symposium; 1998 Sep 6-12; Graz
    2000 ►
  98. Kunej Tanja
    Mikrodelecije Y kromosoma pri neplodnih moških
    [Microdeletions of the Y chromosome in infertile men]
    2000 ►
  99. Bilban-Jakopin C
    Chromosomal changes in somatic cells in seminoma patients after treatment with ionizing radiation or cytostatics
    2000 ►
  100. Mali Polonca
    Vloga citogenetskih in molekularno geentskih preiskav pri akutni limfoblastni levkemiji otrok
    [Cytogenetics and molecular genetics of childhood acute lymphoblastic leukemia]
    2000 ►

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