7th INTERNATIONAL CONFERENCE ON OSTEOGENESIS IMPERFECTA



Oral Presentations




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IDENTIFICATION OF NOVEL COLlAI DEFECTS RESPONSIBLE FOR NULL ALLELE PHENOTYPES IN TYPE I OI.
Stefania Mirandola, Macarena Gomez Lira, Monica Mottes

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.

DEFECTIVE TYPE I PROCOLLAGEN MOLECULES ARE DEGRADED BY THE CYTOSOLIC PROTEASOME.
James M. Pace and Peter H. Byers.

OSTEOBLAST METABOLISM OF MUTANT TYPE I COLLAGEN: INTRACELLULAR SURVIVAL, SECRETION AND INCORPORATION INTO MATRIX.
Wayne A.Cabral, Antonella Forlino and Joan C. Marini.

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

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

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

ULTRASTRUCTURAL APPEARANCE OF DECIDUOUS ENAMEL AND DENTINE IN OSTEOGENESIS IMPERFECTA (OI).
Jean Pouëzat, Wolf Bohne, Gilles Amador Del Valle, Sylvain Bohic

RELATIONSHIP OF GENOTYPE AND OI PHENOTYPE FOR MUTATIONS IN (2(I): UPDATE OF THE REGIONAL MODEL.
Joan C. Marini, Antonella Forlino, Wayne A. Cabral

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

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

ORTHODONTIC TREATMENT OF YOUNG OSTEOGENESIS IMPERFECTA PATIENTS WITH THE FUNCTIONAL FRÄNKEL APPLIANCE.
Janna Waltimo, Eija Kleemola-Kujala

OSTEOGENESIS IMPERFECTA AND HEARING.
Kaija M.Kuurila, Reidar A.Grénman, Reijo K.Johansson, Ilkka I.Kaitila

APD - TREATMENT IN OSTEOGENESIS IMPERFECTA.
E. Åström and S. Söderhäll

CYCLIC ADMINISTRATION OF INTRAVENOUS NERIDRONATE IN PATIENTS WITH OSTEOGENESIS IMPERFECTA.
E.Fracassi, D.Gatti, F. Antoniazzi , E. Sartori, V. Braga and S. Adami

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

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

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

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

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

QUALITY OF LIFE IN OSTEOGENESIS IMPERFECTA: A PRELIMINARY REPORT.
Roger F. Widmann, F. Javier Laplaza, Favien D. Bitan, Catherine Brooks, Leon Root

OSTEOGENESIS IMPERFECTA: PREGNANCY CHARACTERISTICS, MODE OF DELIVERY, AND NEONATAL OUTCOME.
Edith Y. Cheng, Rachel Cubert, Sarah Mack, Melanie G. Pepin, and Peter H. Byers


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