Oral Presentations

NOTE: The opinions and data presented are the responsability of the authors. The Genetic Unit staff does not necessarily share their views.

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  1. IDENTIFICATION OF NOVEL COLlAI DEFECTS RESPONSIBLE FOR NULL ALLELE PHENOTYPES IN TYPE I OI.
    Stefania Mirandola, Macarena Gomez Lira, Monica Mottes
  2. MOLECULAR APPROACH FOR THE IDENTIFICATION OF THE UNDERLYING MUTATION IN PATIENTS WITH OSTEOGENESIS IMPERFECTA TYPE I.
    L. Nuytinck, K. Wettinck, M. Van Thielen, A. De Paepe.

  3. DEFECTIVE TYPE I PROCOLLAGEN MOLECULES ARE DEGRADED BY THE CYTOSOLIC PROTEASOME.
    James M. Pace and Peter H. Byers.
  4. OSTEOBLAST METABOLISM OF MUTANT TYPE I COLLAGEN: INTRACELLULAR SURVIVAL, SECRETION AND INCORPORATION INTO MATRIX.
    Wayne A.Cabral, Antonella Forlino and Joan C. Marini.
  5. THE ROLE INTRON SPLICE ORDER IN THE COL1A2 GENE HAS ON THE EFFECTS OF SPLICE SITE MUTATIONS RESULTING IN OI.
    Christine D. Kuslich and Peter H. Byers
  6. DETECTION AND ANALYSIS OF SPLICE SITE MUTATIONS IN THE COL1A1 GENE THAT RESULT IN OSTEOGENESIS IMPERFECTA TYPE I.
    Ernesto Valiente, Mary Atkinson, and Peter H. Byers
  7. URINARY LEVELS OF COLLAGEN DEGRADATION PRODUCTS SUGGEST THAT BONE RESORPTION IS NORMAL IN CHILDREN WITH OSTEOGENESIS IMPERFECTA.
    Ruud A. Bank, Johan M. TeKoppele, M.C. Kuijpers, Hans E.H. Pruijs, Liesbeth J. Siderius, Ralph J.B. Sakkers
  8. ULTRASTRUCTURAL APPEARANCE OF DECIDUOUS ENAMEL AND DENTINE IN OSTEOGENESIS IMPERFECTA (OI).
    Jean Pouëzat, Wolf Bohne, Gilles Amador Del Valle, Sylvain Bohic
  9. RELATIONSHIP OF GENOTYPE AND OI PHENOTYPE FOR MUTATIONS IN (2(I): UPDATE OF THE REGIONAL MODEL.
    Joan C. Marini, Antonella Forlino, Wayne A. Cabral
  10. REDUCED BIOMECHANICAL STRENGTH OF THE THORACIC AORTA IN THE OIM (OSTEOGENESIS IMPERFECTA MODEL) MOUSE.
    Charlotte L Phillips, Angela G. Vouyouka, Brent J. Pfeiffer, Timothy A. Taylor
  11. ESTABLISHMENT OF BONE DENSITY STANDARD CURVES FOR CHILDREN WITH TYPES III AND IV OI SHOWS DIFFERENT PROGRESSION PATTERNS FOR THE TWO TYPES.
    Beth Hopkins, James Troendle, James Reynolds, Joan C. Marini
  12. ORTHODONTIC TREATMENT OF YOUNG OSTEOGENESIS IMPERFECTA PATIENTS WITH THE FUNCTIONAL FRÄNKEL APPLIANCE.
    Janna Waltimo, Eija Kleemola-Kujala
  13. OSTEOGENESIS IMPERFECTA AND HEARING.
    Kaija M.Kuurila, Reidar A.Grénman, Reijo K.Johansson, Ilkka I.Kaitila
  14. APD - TREATMENT IN OSTEOGENESIS IMPERFECTA.
    E. Åström and S. Söderhäll
  15. CYCLIC ADMINISTRATION OF INTRAVENOUS NERIDRONATE IN PATIENTS WITH OSTEOGENESIS IMPERFECTA.
    E.Fracassi, D.Gatti, F. Antoniazzi , E. Sartori, V. Braga and S. Adami
  16. CYCLIC INTRAVENOUS PAMIDRONATE THERAPY FOR OSTEOGENESIS IMPERFECTA TYPE I.
    David O. Sillence, Julie Briody, Jill Hall, Jenny Ault, Robert B.Howman-Giles, Christopher T. Cowell, Michael J. Hooper
  17. CYCLIC INTRAVENOUS PAMIDRONATE THERAPY FOR OSTEOGENESIS IMPERFECTA TYPE IV.
    David O. Sillence, Julie Briody, Jill Hall, Jenny Ault, Robert B. Howman-Giles, Christopher T. Cowell, Michael J. Hooper
  18. EFFICACY OF ALENDRONATE IN INFANT OIM/OIM MICE.
    Edith A. McCarthy, Michael D. Hossack, Elizabeth A. Miller, Adele L. Boskey, Leon Root, Cathleen Raggio, Nancy P. Camacho
  19. MARROW CELL TRANSPLANTATION FOR INFANTILE HYPOPHOSPHATASIA.
    Michael P. Whyte, Joanne Kurtzburg, William H. McAlister , Stephen P. Coburn, Lawrence M. Ryan, Cindy R. Miller, Gary S. Gottesman, Paul L. Martin
  20. OSTEOGENESIS IMPERFECTA IN CHILDHOOD: IMPARMENT AND DISABILITY - A 4-YEARS FOLLOW-UP STUDY.
    RHH Engelbert, W-J Gerver, CSPM Uiterwaal, JWM Custers, VAM Gulmans, HEH Prujis, PJM Helders
  21. QUALITY OF LIFE IN OSTEOGENESIS IMPERFECTA: A PRELIMINARY REPORT.
    Roger F. Widmann, F. Javier Laplaza, Favien D. Bitan, Catherine Brooks, Leon Root
  22. OSTEOGENESIS IMPERFECTA: PREGNANCY CHARACTERISTICS, MODE OF DELIVERY, AND NEONATAL OUTCOME.
    Edith Y. Cheng, Rachel Cubert, Sarah Mack, Melanie G. Pepin, and Peter H. Byers