biomedicina slovenica


"CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR" : 38

  1. Gál Eleonóra; Dolenšek Jurij; Stožer Andraž; Pohorec Viljem; Ébert Attila; Venglovecz Viktória
    A novel in situ approach to studying pancreatic ducts in mice
    2019
  2. Ravnik-Glavač Metka; Dean Michael; Glavač Damjan
    Two novel missense mutations (R766M and R792G) in exon 13 of the CFTR gene in a patient with congenital bilateral absence of the vas deferens
    2000
  3. Korošec Peter; Šilar Mira; Mencinger Marina
    Molekularna diagnostika cistične fibroze
    2006
  4. Homšak Matjaž
    Cistična fibroza - molekularne osnove in razvoj bolezni
    2006
  5. 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
  6. Širca-Čampa Andreja; Brecelj Jernej; Kopriva Silvester; Sedmak Marjeta
    Novosti v prehrani otrok s cistično fibrozo
    2005
  7. Fležar M; Heisler S
    P2-purinergic receptors in human breast tumor cells: coupling of intracellular calcium signaling to anion secretion
    1993
  8. Wine Jeffrey J; Dean Michael; Glavač Damjan
    Natural animal models of human genetic diseases
    2002
  9. Ravnik-Glavač Metka; Glavač Damjan
    The impact of genetic mutations in pancreatitis
    2004
  10. Ravnik-Glavač Metka; Atkinson Andrew; Glavač Damjan; Dean Michael
    DHPLC screening of cystic fibrosis gene mutations
    2002
  11. Virant-Klun Irma
    Nastanek semenčič (spermatogeneza)
    2002
  12. Ravnik-Glavač M; Svetina N; Zorn B; Peterlin B; Glavač D
    Involvement of CFTR gene alterations in obstructive and nonobstructive infertility in men
    2001
  13. Črne-Finderle Neva
    Patofiziologija nekaterih dednih napak
    2001
  14. 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
  15. Kopriva Silvester; Logar-Car Gordana; Sendi Vida
    Cistična fibroza: prvi koraki
    1999
  16. Ravnik-Glavač M; Atkinson A; Glavač D; Dean M
    Optimization of DHPLC method for analysis of CFTR gene mutations
    2001
  17. 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
  18. Ravnik-Glavač M; Svetina N; Zorn B; Glavač D
    Involvement of CFTR gene mutations in different types of male infertility
    2000
  19. Ravnik-Glavač M; Dean M; di Sant Agnese P; Chernick M; Koželj M; Glavač D
    Genetic heterogeneity in hereditary pancreatitis
    2000
  20. Knežević J; Milić A; Tanacković G; Pavelić J
    Cystic fibrosis - carrier status in Croatia
    2000
  21. Zorn B; Virant-Klun I; Meden-Vrtovec H; Ravnik-Glavač M; Glavač D; Peterlin B; Kunej T
    Male infertility and assisted reproductive technology (art) with particular attention to genetic abnormalities
    2000
  22. Macek JRM; Macek M; Krebsova A; Doerk T; Dequeker E; Cassiman J-J; Ravnik-Glavač M; Glavač D; Vouk K; Komel R
    Distribution and ethnic origin of 151 cystic fibrosis mutations in Balkans, central & eastern European populations
    2000
  23. Svetina Nataša
    Mutacijska analiza gena CFTR pri različnih oblikah moške neplodnosti in pri bolnikih s kroničnim pankreatisom v slovenski populaciji
    2000
  24. Vouk K
    Genska diagnostika cistične fibroze
    2000
  25. Ravnik-Glavač M; Glavač D
    Gensko zdravljenje cistične fibroze - napredek in omejitve
    [Gene therapy of cystic fibrosis - progress and limitations]
    2000
  26. Wine Jeffrey J; Glavač Damjan; Hurlock Gregory; Robinson Clare; Lee Margaret; Potočnik Uroš; Ravnik-Glavač Metka; Dean Michael
    Genomic DNA sequence of Rhesus (M. mulatta) cystic fibrosis (CFTR) gene
    1998
  27. Vouk Katja; Strmecki Lana; Liović Mirjana; Kopriva Silvester; Mičetič-Turk Dišica; Komel Radovan
    Mutational analysis of 30 Slovenian cystic fibrosis patients compared to known Slovenian and European CF mutation spectra
    2000
  28. 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
  29. Ravnik-Glavač Metka; Dean Michael; di Sant Agnese Paul; Chernick Mila; Koželj Matjaž; Križman Igor; Glavač Damjan
    Evidence that hereditary pancreatitis is genetically heterogenous disorder
    2000
  30. Glavač Damjan; Ravnik-Glavač Metka; Potočnik Uroš; Dean Michael; Wine Jeffrey
    Screening methods for cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in non-human primates
    2000
  31. Ravnik-Glavač Metka; Glavač Damjan
    Živalski modeli v genskem zdravljenju cistične fibroze
    [Animal models in gene therapy of cystic fibrosis]
    1999
  32. Ravnik-Glavač Metka; Glavač Damjan
    Gene therapy of cystic fibrosis: CFTR, vectors and animal models
    1998
  33. Vouk K; Kopriva S; Mičetić-Turk D; Komel R
    Comparison of two different aproaches for detection of cystic fibrosis mutations
    1997
  34. Ravnik-Glavač M; Dean M; Koželj M; Križman I; Chernick M; Di Sant'Agnese P; Glavač D
    Molecular genetic of hereditary pancreatitis
    1997
  35. Glavač Damjan; Dean Michael
    Applications of heteroduplex analysis for mutation detection in disease genes
    1995
  36. Ravnik-Glavač M; Glavač D; di Sant-Agnese P; Chernick M; Dean M
    Cystic fibrosis gene mutations detected in hereditary pancreatitis
    1996
  37. Audrezet MP; Canki-Klain N; Mercier B; Bracar D; Verlingue C; Ferec C
    Identification of three novel mutations (457 TAT-->G, D192G, Q685X) in the Slovenian CF patients
    1994
  38. Ravnik-Glavač Metka; Glavač Damjan; Komel Radovan; Dean Michael
    Single-stranded conformation polymorphism analysis of the CFTR gene in Slovenian cystic fibrosis patients: detection of mutations and sequence variations
    1993



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