F H Glorieux

Summary

Affiliation: McGill University
Country: Canada

Publications

  1. ncbi request reprint Experience with bisphosphonates in osteogenesis imperfecta
    Francis H Glorieux
    Genetics Unit, Shriners Hospital for Children and McGill University, Montreal, Quebec, Canada
    Pediatrics 119:S163-5. 2007
  2. ncbi request reprint The effect of cyclical intravenous pamidronate in children and adolescents with osteogenesis imperfecta type V
    Leonid Zeitlin
    Genetics Unit, Shriners Hospital for Children and McGill University, 1529 Cedar Avenue, Montreal, Quebec, Canada H3G 1A6
    Bone 38:13-20. 2006
  3. ncbi request reprint Osteogenesis imperfecta, current and future medical treatment
    Frank Rauch
    Shriners Hospital for Children, Montreal, Quebec, Canada
    Am J Med Genet C Semin Med Genet 139:31-7. 2005
  4. ncbi request reprint Pamidronate in children with osteogenesis imperfecta: histomorphometric effects of long-term therapy
    Frank Rauch
    Genetics Unit, Shriners Hospital for Children, 1529 Cedar Avenue, Montreal, Quebec, Canada H3G 1A6
    J Clin Endocrinol Metab 91:511-6. 2006
  5. doi request reprint Osteogenesis imperfecta
    Francis H Glorieux
    Genetics Unit, Shriners Hospital for Children, 1529 Cedar Avenue, McGill University, Montreal, Quebec, Canada H3G 1A6
    Best Pract Res Clin Rheumatol 22:85-100. 2008
  6. ncbi request reprint Normative data for iliac bone histomorphometry in growing children
    F H Glorieux
    Department of Surgery, McGill University, Montreal, Quebec, Canada
    Bone 26:103-9. 2000
  7. pmc Caffey disease: an unlikely collagenopathy
    Francis H Glorieux
    Department of Surgery, McGill University, Shriners Hospital for Children, Montreal, Quebec, Canada
    J Clin Invest 115:1142-4. 2005
  8. ncbi request reprint The use of bisphosphonates in children with osteogenesis imperfecta
    F H Glorieux
    Genetics Unit, Shriners Hospital for Children and McGill University, Montreal, Quebec, Canada
    J Pediatr Endocrinol Metab 14:1491-5. 2001
  9. ncbi request reprint Medical therapy of children with fibrous dysplasia
    Francis H Glorieux
    Genetics Unit, Shriners Hospital for Children, McGill University, Montreal, Canada
    J Bone Miner Res 21:P110-3. 2006
  10. ncbi request reprint Bisphosphonate therapy for severe osteogenesis imperfecta
    F H Glorieux
    Department of Surgery, McGill University and Shriners Hospital, Montreal, Quebec, Canada
    J Pediatr Endocrinol Metab 13:989-92. 2000

Collaborators

Detail Information

Publications90

  1. ncbi request reprint Experience with bisphosphonates in osteogenesis imperfecta
    Francis H Glorieux
    Genetics Unit, Shriners Hospital for Children and McGill University, Montreal, Quebec, Canada
    Pediatrics 119:S163-5. 2007
    ..Questions remain regarding when treatment should be stopped and the need for pamidronate therapy in patients with mild osteogenesis imperfecta...
  2. ncbi request reprint The effect of cyclical intravenous pamidronate in children and adolescents with osteogenesis imperfecta type V
    Leonid Zeitlin
    Genetics Unit, Shriners Hospital for Children and McGill University, 1529 Cedar Avenue, Montreal, Quebec, Canada H3G 1A6
    Bone 38:13-20. 2006
    ..Ambulation status improved in four patients and remained unchanged in the others. In conclusion, the intravenous pamidronate therapy has a similar effect in OI type V as it has in the other OI types...
  3. ncbi request reprint Osteogenesis imperfecta, current and future medical treatment
    Frank Rauch
    Shriners Hospital for Children, Montreal, Quebec, Canada
    Am J Med Genet C Semin Med Genet 139:31-7. 2005
    ..Medical therapies other than bisphosphonates, such as growth hormone and parathyroid hormone, play a minor role at present. Gene-based therapy currently remains in the early stages of preclinical research...
  4. ncbi request reprint Pamidronate in children with osteogenesis imperfecta: histomorphometric effects of long-term therapy
    Frank Rauch
    Genetics Unit, Shriners Hospital for Children, 1529 Cedar Avenue, Montreal, Quebec, Canada H3G 1A6
    J Clin Endocrinol Metab 91:511-6. 2006
    ..Intravenous pamidronate treatment is beneficial to children and adolescents with osteogenesis imperfecta (OI), but the effects of prolonged therapy are not well characterized...
  5. doi request reprint Osteogenesis imperfecta
    Francis H Glorieux
    Genetics Unit, Shriners Hospital for Children, 1529 Cedar Avenue, McGill University, Montreal, Quebec, Canada H3G 1A6
    Best Pract Res Clin Rheumatol 22:85-100. 2008
    ..Other therapeutic approaches and future directions of research are briefly discussed...
  6. ncbi request reprint Normative data for iliac bone histomorphometry in growing children
    F H Glorieux
    Department of Surgery, McGill University, Montreal, Quebec, Canada
    Bone 26:103-9. 2000
    ..The highest variability was found for cellular parameters. The availability of reference material will greatly facilitate the use of histomorphometry in pediatrics...
  7. pmc Caffey disease: an unlikely collagenopathy
    Francis H Glorieux
    Department of Surgery, McGill University, Shriners Hospital for Children, Montreal, Quebec, Canada
    J Clin Invest 115:1142-4. 2005
    ....
  8. ncbi request reprint The use of bisphosphonates in children with osteogenesis imperfecta
    F H Glorieux
    Genetics Unit, Shriners Hospital for Children and McGill University, Montreal, Quebec, Canada
    J Pediatr Endocrinol Metab 14:1491-5. 2001
    ..Until gene therapy becomes a reality, the use of bisphosphonates appears to be the most efficient way of altering the natural course of severe OI, and improving the quality of life of patients...
  9. ncbi request reprint Medical therapy of children with fibrous dysplasia
    Francis H Glorieux
    Genetics Unit, Shriners Hospital for Children, McGill University, Montreal, Canada
    J Bone Miner Res 21:P110-3. 2006
  10. ncbi request reprint Bisphosphonate therapy for severe osteogenesis imperfecta
    F H Glorieux
    Department of Surgery, McGill University and Shriners Hospital, Montreal, Quebec, Canada
    J Pediatr Endocrinol Metab 13:989-92. 2000
    ....
  11. doi request reprint Treatment of osteogenesis imperfecta: who, why, what?
    Francis H Glorieux
    Department of Surgery, Pediatrics and Human Genetics, Shriner s Hospital, McGill University, Montreal, Que, Canada
    Horm Res 68:8-11. 2007
    ..Often, disuse bone loss further compounds the decrease in bone mass. These findings justify the use of bisphosphonates to reduce osteoclast-mediated bone resorption, and so tilt the remodeling balance towards an increase in bone mass...
  12. ncbi request reprint Targeted inactivation of the 25-hydroxyvitamin D(3)-1(alpha)-hydroxylase gene (CYP27B1) creates an animal model of pseudovitamin D-deficiency rickets
    O Dardenne
    Genetics Unit, Shriners Hospital for Children, Montreal, Quebec, Canada H3G 1A6
    Endocrinology 142:3135-41. 2001
    ..These results show that we have successfully inactivated the 1alpha-OHase gene in mice and established a valid animal model of pseudovitamin D-deficiency rickets...
  13. ncbi request reprint Mepe, the gene encoding a tumor-secreted protein in oncogenic hypophosphatemic osteomalacia, is expressed in bone
    L Argiro
    Genetics Unit, Shriners Hospital, Montreal, Quebec, H3G 1A6, Canada
    Genomics 74:342-51. 2001
    ..Our data provide the first evidence that MEPE/Mepe is expressed by osteoblasts in association with mineralization...
  14. ncbi request reprint Thirty-three novel COL1A1 and COL1A2 mutations in patients with osteogenesis imperfecta types I-IV
    L M Ward
    Genetics Unit, Shriners Hospital for Children, , , Canada
    Hum Mutat 17:434. 2001
    ..The variety of mutations described in the COL1A1/COL1A2 genes giving rise to an OI phenotype is in accordance with the clinical heterogeneity of the disease. Hum Mutat 17:434, 2001...
  15. ncbi request reprint cDNA cloning of the murine Pex gene implicated in X-linked hypophosphatemia and evidence for expression in bone
    L Du
    Genetics Unit, McGill University, Montreal, Quebec, H3G 1A6, Canada
    Genomics 36:22-8. 1996
    ..The association of impaired mineralization of bone and teeth and disturbed renal phosphate reabsorption with altered expression of Pex suggests that the Pex gene product may play a critical role in these processes...
  16. ncbi request reprint Effect of 1,25-dihydroxyvitamin D3 treatment on bone formation by transplanted cells from normal and X-linked hypophosphatemic mice
    B Ecarot
    Shriners Hospital, Department of Surgery, Montreal, Quebec, Canada
    J Bone Miner Res 10:424-31. 1995
    ..These observations demonstrate an abnormal response of the mutant cells to the extracellular environment and support the concept of an intrinsic osteoblast defect in the Hyp mouse...
  17. ncbi request reprint Effect of gene dose and parental origin on bone histomorphometry in X-linked Hyp mice
    Z Q Qiu
    Department of Biology, McGill University, Montreal, Quebec H3A 1B1, Canada
    Bone 34:134-9. 2004
    ....
  18. ncbi request reprint Effect of pamidronate treatment in children with polyostotic fibrous dysplasia of bone
    Horacio Plotkin
    Genetics Unit, Shriners Hospital for Children, Quebec, Canada H3G 1A6
    J Clin Endocrinol Metab 88:4569-75. 2003
    ..In conclusion, pamidronate therapy appears to be safe in children and adolescents with polyostotic FD. However, we found no clear evidence that pamidronate has an effect on dysplastic lesions in such patients...
  19. ncbi request reprint Identification of type I collagen gene (COL1A2) mutations in nonlethal osteogenesis imperfecta
    R Sztrolovics
    Genetics Unit, Shriners Hospital for Crippled Children, Montreal, Quebec, Canada
    Hum Mol Genet 2:1319-21. 1993
  20. ncbi request reprint Rescue of the pseudo-vitamin D deficiency rickets phenotype of CYP27B1-deficient mice by treatment with 1,25-dihydroxyvitamin D3: biochemical, histomorphometric, and biomechanical analyses
    Olivier Dardenne
    Genetics Unit, Shriners Hospital for Children, Montreal, Quebec, Canada
    J Bone Miner Res 18:637-43. 2003
    ..These results show that chronic treatment with the active 1,25(OH)2D3 metabolite is effective to rescue the PDDR phenotype of 1alpha-OHase mutant mice...
  21. doi request reprint Severe osteogenesis imperfecta caused by a small in-frame deletion in CRTAP
    I M Ben Amor
    Genetics Unit, Shriners Hospital for Children and McGill University, Montreal, Canada
    Am J Med Genet A 155:2865-70. 2011
    ..We are unaware of prior reports of this finding. We suggest that this deletion affects crucial amino acids that are important for the interaction and/or stabilization of CRTAP and P3H1...
  22. ncbi request reprint Osteogenesis imperfecta type VII: an autosomal recessive form of brittle bone disease
    L M Ward
    Genetics Unit, Shriners Hospital for Children, Montreal, Quebec, Canada
    Bone 31:12-8. 2002
    ..The disease has subsequently been localized to chromosome 3p22-24.1, which is outside the loci for type I collagen genes. The underlying genetic basis for the disease remains to be determined...
  23. ncbi request reprint The bone formation defect in idiopathic juvenile osteoporosis is surface-specific
    F Rauch
    Genetics Unit, Shriners Hospital, McGill University, Montreal, Quebec, Canada
    Bone 31:85-9. 2002
    ..Thus, the process causing IJO appears to mainly affect bone surfaces that are in contact with the bone marrow cavity...
  24. ncbi request reprint Phosphate transport by osteoblasts from X-linked hypophosphatemic mice
    B Ecarot
    Shriners Hospital, Department of Surgery, Montreal, Quebec, Canada
    Am J Physiol 266:E33-8. 1994
    ..No difference in activity was observed between sera from normal and mutant mice. In summary, cultured osteoblasts derived from Hyp mice did not express impaired sodium-dependent Pi transport when compared with cells from normal mice...
  25. ncbi request reprint Delayed osteotomy but not fracture healing in pediatric osteogenesis imperfecta patients receiving pamidronate
    Craig Fj Munns
    Genetics Unit, Shriners Hospital for Children, McGill University, Montreal, Quebec, Canada
    J Bone Miner Res 19:1779-86. 2004
    ..Pamidronate treatment was associated with delayed healing after osteotomy, but not after fracture. The data suggest that both pamidronate and mechanical factors influence bone healing in this cohort...
  26. ncbi request reprint The 25-hydroxyvitamin D 1-alpha-hydroxylase gene maps to the pseudovitamin D-deficiency rickets (PDDR) disease locus
    R St-Arnaud
    Shriners Hospital, and Department of Surgery, McGill University, Montreal, Quebec, Canada
    J Bone Miner Res 12:1552-9. 1997
    ..The availability of a cloned sequence for 1alpha-OHase generates novel tools for the study of the molecular etiology of PDDR, and will allow the investigation of other disturbances of vitamin D metabolism...
  27. ncbi request reprint Correction of the abnormal mineral ion homeostasis with a high-calcium, high-phosphorus, high-lactose diet rescues the PDDR phenotype of mice deficient for the 25-hydroxyvitamin D-1alpha-hydroxylase (CYP27B1)
    O Dardenne
    Genetics Unit, Shriners Hospital for Children, Montreal, Quebec H3G 1A6, Canada
    Bone 32:332-40. 2003
    ..This treatment, however, does not appear as effective as 1,25(OH)(2)D(3) replacement therapy since bone growth remained impaired...
  28. doi request reprint Alendronate for the treatment of pediatric osteogenesis imperfecta: a randomized placebo-controlled study
    L M Ward
    Genetics Unit, Shriners Hospital for Children, 1529 Cedar Avenue, Montreal, Quebec, Canada
    J Clin Endocrinol Metab 96:355-64. 2011
    ..Information on the use of oral bisphosphonate agents to treat pediatric osteogenesis imperfecta (OI) is limited...
  29. ncbi request reprint Osteogenesis imperfecta type VII maps to the short arm of chromosome 3
    M Labuda
    Genetics Unit, Shriners Hospital for Children, Montreal, Quebec, Canada
    Bone 31:19-25. 2002
    ..This study excludes type I collagen mutations in the pathogenesis of the disease and assigns this form of OI to a locus other than the ones containing the type I collagen genes...
  30. doi request reprint Short- and long-term outcome of patients with pseudo-vitamin D deficiency rickets treated with calcitriol
    T Edouard
    Genetics Unit, Shriners Hospital for Children, Montreal, Quebec, Canada
    J Clin Endocrinol Metab 96:82-9. 2011
    ..The long-term (>1 yr) effects of calcitriol replacement treatment have not been reported...
  31. ncbi request reprint Height and weight development during four years of therapy with cyclical intravenous pamidronate in children and adolescents with osteogenesis imperfecta types I, III, and IV
    Leonid Zeitlin
    Genetics Unit, Shriners Hospital for Children and McGill University, Montreal, Quebec, Canada
    Pediatrics 111:1030-6. 2003
    ..In this study we analyzed growth during cyclical intravenous pamidronate treatment in children and adolescents (age.04-15.6 years at baseline) with moderate to severe forms of OI types I, III, and IV...
  32. ncbi request reprint Vertebral morphometry in children and adolescents with osteogenesis imperfecta: effect of intravenous pamidronate treatment
    Christof Land
    Genetics Unit, Shriners Hospital for Children, 1529 Cedar Avenue, Montreal, Quebec, Canada H3G 1A6
    Bone 39:901-6. 2006
    ..In moderate to severe forms of OI, pamidronate should be started as early as possible to treat or to prevent vertebral deformations...
  33. doi request reprint Large osteoclasts in pediatric osteogenesis imperfecta patients receiving intravenous pamidronate
    Moira S Cheung
    Genetics Unit, Shriners Hospital for Children and McGill University, Montreal, Quebec, Canada
    J Bone Miner Res 24:669-74. 2009
    ..It seems more likely that the observed abnormalities in osteoclast morphology are part of the mechanism of action of this drug...
  34. ncbi request reprint Osteogenesis imperfecta type VI in childhood and adolescence: effects of cyclical intravenous pamidronate treatment
    Christof Land
    Genetics Unit, Shriners Hospital for Children, Montreal, Quebec, Canada
    Bone 40:638-44. 2007
    ..However, the gains in mobility scores and reductions in fracture incidence during pamidronate treatment are less than in other OI types...
  35. ncbi request reprint Deficient mineralization of intramembranous bone in vitamin D-24-hydroxylase-ablated mice is due to elevated 1,25-dihydroxyvitamin D and not to the absence of 24,25-dihydroxyvitamin D
    R St-Arnaud
    Genetics Unit, Shriners Hospital for Children, Montreal, Quebec, Canada
    Endocrinology 141:2658-66. 2000
    ..Our results confirm the physiological importance of the 24-OHase enzyme for maintaining vitamin D homeostasis, and they reveal that 24,25-dihydroxyvitamin D is a dispensable metabolite during bone development...
  36. ncbi request reprint Polymerase chain reaction-based technique for the selective enrichment and analysis of mosaic arg201 mutations in G alpha s from patients with fibrous dysplasia of bone
    G A Candeliere
    Genetics Unit, Shriners Hospital for Children, Montreal, Quebec, Canada
    Bone 21:201-6. 1997
    ..This patient presented with a panostotic disease and may represent a unique subgroup of fibrous dysplasia...
  37. ncbi request reprint Effects of intravenous pamidronate treatment in infants with osteogenesis imperfecta: clinical and histomorphometric outcome
    Craig F J Munns
    Genetics Unit, Shriners Hospital for Children and McGill University, Montreal, Quebec, Canada
    J Bone Miner Res 20:1235-43. 2005
    ..Pamidronate was associated with improved vertebral shape and mass, higher cortical width, increased cancellous bone volume, and suppressed bone turnover...
  38. ncbi request reprint Osteogenesis imperfecta: comparison of molecular defects with bone histological changes
    R Sztrolovics
    Genetics Unit, Shriners Hospital for Crippled Children, Montreal, Quebec, Canada
    Bone 15:321-8. 1994
    ..The results are compatible with there being a gradient in severity between OI types II and III, and that parameters external to the gene mutations might account for the survival differences in the 2 cases presented in this study...
  39. pmc Bone-specific expression of the alpha chain of the nascent polypeptide-associated complex, a coactivator potentiating c-Jun-mediated transcription
    A Moreau
    Shriners Hospital, and Department of Surgery, McGill University, Montreal, Quebec, Canada
    Mol Cell Biol 18:1312-21. 1998
    ..Thus, the alpha-NAC gene product exhibits the properties of a developmentally regulated, bone-specific transcriptional coactivator...
  40. ncbi request reprint Bone mass, size, and density in children and adolescents with osteogenesis imperfecta: effect of intravenous pamidronate therapy
    Frank Rauch
    Genetics Unit, Shriners Hospital for Children and McGill University, Montreal, Quebec, Canada
    J Bone Miner Res 18:610-4. 2003
    ..Patients with larger deficits in bone mass at baseline have a more marked bone mass gain during therapy...
  41. ncbi request reprint High and low density in the same bone: a study on children and adolescents with mild osteogenesis imperfecta
    Frank Rauch
    Genetics Unit, Shriners Hospital for Children, 1529 Cedar Avenue, Montreal, Canada QC H3G 1A6
    Bone 37:634-41. 2005
    ....
  42. doi request reprint Intravenous pamidronate in osteogenesis imperfecta type VII
    Moira S Cheung
    Genetics Unit, Shriners Hospital for Children and McGill University, Montreal, Quebec, Canada
    Calcif Tissue Int 84:203-9. 2009
    ..There were no significant side effects noted during the time of follow-up. Thus, intravenous treatment with pamidronate seems to be safe and of some benefit in patients with OI type VII...
  43. doi request reprint Risedronate in the treatment of mild pediatric osteogenesis imperfecta: a randomized placebo-controlled study
    Frank Rauch
    Genetics Unit, Shriners Hospital for Children, Quebec, Canada
    J Bone Miner Res 24:1282-9. 2009
    ..Future studies should investigate whether oral risedronate is effective in reducing fracture rates in children and adolescents with mild OI type I...
  44. ncbi request reprint Pamidronate in children and adolescents with osteogenesis imperfecta: effect of treatment discontinuation
    Frank Rauch
    Genetics Unit, Shriners Hospital for Children, 1529 Cedar Avenue, Montreal, Quebec, Canada H3G 1A6
    J Clin Endocrinol Metab 91:1268-74. 2006
    ..Cyclical iv pamidronate is a widely used symptomatic therapy of osteogenesis imperfecta (OI). What happens after treatment discontinuation is unknown...
  45. ncbi request reprint Cyclical intravenous pamidronate treatment affects metaphyseal modeling in growing patients with osteogenesis imperfecta
    Christof Land
    Genetics Unit, Shriners Hospital for Children and McGill University, Montreal, Quebec, Canada
    J Bone Miner Res 21:374-9. 2006
    ..This analysis of 50 growing patients with osteogenesis imperfecta revealed that 2-4 years of pamidronate treatment lead to abnormalities in the shape of the distal femoral metaphyses...
  46. doi request reprint Osteogenesis Imperfecta: update on presentation and management
    Moira S Cheung
    Genetics Unit, Shriners Hospital for Children and McGill University, Montreal, QC, Canada
    Rev Endocr Metab Disord 9:153-60. 2008
    ..Newer more potent forms of bisphosphonates such as zoledronic acid have undergone and are still being subject to international multicentric drug trials and are beginning to replace pamidronate in some centers...
  47. ncbi request reprint Intracortical remodeling during human bone development--a histomorphometric study
    Frank Rauch
    Genetics Unit, Shriners Hospital for Children, 1529 Cedar Avenue, Montreal, Quebec, Canada H3G 1A6
    Bone 40:274-80. 2007
    ..Remodeling during development is thus an age-dependent process that varies with location even within the same bone...
  48. ncbi request reprint Long-bone changes after pamidronate discontinuation in children and adolescents with osteogenesis imperfecta
    Frank Rauch
    Genetics Unit, Shriners Hospital for Children and McGill University, 1529 Cedar Avenue, Montreal, Quebec, Canada H3G 1A6
    Bone 40:821-7. 2007
    ..It is possible that this produces zones of localized bone fragility after pamidronate treatment is stopped in growing children...
  49. pmc The effects of intravenous pamidronate on the bone tissue of children and adolescents with osteogenesis imperfecta
    Frank Rauch
    Genetics Unit, Shriners Hospital for Children, and McGill University, Montreal, Quebec, Canada
    J Clin Invest 110:1293-9. 2002
    ..However, osteoclasts and osteoblasts are active on different surfaces (and are thus uncoupled) during modeling of cortical bone. Therefore resorption is selectively targeted, and continuing bone formation can increase cortical width...
  50. doi request reprint Relationship between genotype and skeletal phenotype in children and adolescents with osteogenesis imperfecta
    Frank Rauch
    Genetics Unit, Shriners Hospital for Children, Montreal, Quebec, Canada
    J Bone Miner Res 25:1367-74. 2010
    ..Thus patients with haploinsufficiency mutations had a milder skeletal phenotype than patients with mutations affecting glycine residues, but there was no clear genotype-phenotype correlation among patients with helical glycine mutations...
  51. ncbi request reprint Sclerotic metaphyseal lines in a child treated with pamidronate: histomorphometric analysis
    Frank Rauch
    Genetics Unit, Shriners Hospital for Children, McGill University, Montreal, Quebec, Canada
    J Bone Miner Res 19:1191-3. 2004
  52. ncbi request reprint Conventional and tissue-specific inactivation of the 25-hydroxyvitamin D-1alpha-hydroxylase (CYP27B1)
    Rene St-Arnaud
    Genetics Unit, Shriners Hospital for Children, Montreal Quebec, Canada H3G 1A6
    J Cell Biochem 88:245-51. 2003
    ..Precise histomorphometric analysis will be required to assess the impact of chondrocyte-specific inactivation of CYP27B1 on the maturation and function of growth plate cells in vivo...
  53. doi request reprint Wormian bones in osteogenesis imperfecta: Correlation to clinical findings and genotype
    Oliver Semler
    Genetics Unit, Shriners Hospital for Children and McGill University, Montreal, Quebec, Canada
    Am J Med Genet A 152:1681-7. 2010
    ..Thus, it appears that SNWB occur more frequently in more severely affected OI patients and seem to develop mostly in utero...
  54. ncbi request reprint Rescue of the phenotype of CYP27B1 (1alpha-hydroxylase)-deficient mice
    Olivier Dardenne
    Genetics Unit, Shriners Hospital for Children, Montreal, Que, Canada H3G 1A6
    J Steroid Biochem Mol Biol 89:327-30. 2004
    ..This treatment, however, does not appear as effective as 1,25(OH)(2)D(3) replacement therapy since bone growth remained impaired...
  55. pmc Genotype-phenotype correlations in nonlethal osteogenesis imperfecta caused by mutations in the helical domain of collagen type I
    Frank Rauch
    Genetics Unit, Shriners Hospital for Children, Montreal, QC, Canada
    Eur J Hum Genet 18:642-7. 2010
    ..These data should be useful to predict disease phenotype in newly diagnosed OI patients...
  56. ncbi request reprint Osteogenesis imperfecta types I, III, and IV: effect of pamidronate therapy on bone and mineral metabolism
    Frank Rauch
    Genetics Unit, Shriners Hospital for Children and McGill University, Montreal, Quebec, Canada H3G 1A6
    J Clin Endocrinol Metab 88:986-92. 2003
    ..In long-term therapy, bone turnover is suppressed to levels lower than those in healthy children. The consequences of chronically low bone turnover in children with OI are unknown at present...
  57. ncbi request reprint Single-dose pharmacokinetics and tolerability of alendronate 35- and 70-milligram tablets in children and adolescents with osteogenesis imperfecta type I
    L M Ward
    Genetics Unit, Shriners Hospital for Children, and McGill University, 1529 Cedar Avenue, Montreal, Quebec, Canada H3G 1A6
    J Clin Endocrinol Metab 90:4051-6. 2005
    ..Alendronate (ALN) is a bisphosphonate compound that can be administered orally and has potential use in pediatric osteoporotic conditions...
  58. ncbi request reprint Osteogenesis imperfecta--clinical and molecular diversity
    P J Roughley
    Genetics Unit, Shriners Hospital for Children, Montreal, Canada
    Eur Cell Mater 5:41-7; discussion 47. 2003
    ..Treatment of osteogenesis imperfecta by bisphosphonate therapy can improve bone mass in all types of the disorder, and while not being a cure for the disorder does improve the quality of life of the patient...
  59. doi request reprint Osteogenesis imperfecta type III with intracranial hemorrhage and brachydactyly associated with mutations in exon 49 of COL1A2
    Eissa Faqeih
    Genetics Unit, Shriners Hospital for Children and McGill University, Montreal, Quebec, Canada
    Am J Med Genet A 149:461-5. 2009
    ..These observations suggest that mutations in this region of the collagen type I alpha 2 chain carry a high risk of abnormal limb development and intracranial bleeding...
  60. ncbi request reprint Modern approach to children with osteogenesis imperfecta
    Leonid Zeitlin
    Shriners Hospital for Children and McGill University, Montreal, Quebec, Canada
    J Pediatr Orthop B 12:77-87. 2003
    ..Specific occupational and physiotherapy programs are integral parts of the treatment protocol. This multidisciplinary approach will prevail until strategies aiming at the correction of the basic defect(s) will have come to fruition...
  61. ncbi request reprint Effect of intravenous pamidronate therapy on functional abilities and level of ambulation in children with osteogenesis imperfecta
    Christof Land
    Genetics Unit, Shriners Hospital for Children and McGill University, Montreal, Quebec, Canada
    J Pediatr 148:456-60. 2006
    ..To evaluate the functional abilities and the level of ambulation during pamidronate therapy in children with moderate to severe osteogenesis imperfecta...
  62. ncbi request reprint Osteogenesis imperfecta type VI: a form of brittle bone disease with a mineralization defect
    Francis H Glorieux
    Shriners Hospital for Children, and Department of Surgery, McGill University, Montreal, Quebec, Canada
    J Bone Miner Res 17:30-8. 2002
    ..The underlying genetic defect remains to be elucidated...
  63. ncbi request reprint Maternal and fetal outcome after long-term pamidronate treatment before conception: a report of two cases
    Craig F J Munns
    Genetics Unit, Shriners Hospital for Children, McGill University, Montreal, Quebec, Canada
    J Bone Miner Res 19:1742-5. 2004
    ..Both the mothers and babies remain well and free of fracture 14 and 16 months postpartum...
  64. ncbi request reprint Three children with lower limb fractures and a mineralization defect: a novel bone fragility disorder?
    Craig F J Munns
    Genetics Unit, Shriners Hospital for Children, Montreal, Quebec, Canada
    Bone 35:1023-8. 2004
    ..The pathogenetic basis for this disorder remains to be elucidated...
  65. ncbi request reprint Bone mineralization in polyostotic fibrous dysplasia: histomorphometric analysis
    Leonieke Terpstra
    Genetics Unit, Shriners Hospital for Children and McGill University, Montreal, Quebec, Canada
    J Bone Miner Res 17:1949-53. 2002
    ..It is debatable whether the mild systemic mineralization defect warrants treatment with oral phosphorus supplementation if signs of rickets are absent...
  66. ncbi request reprint Defective bone formation by Hyp mouse bone cells transplanted into normal mice: evidence in favor of an intrinsic osteoblast defect
    B Ecarot
    Shriners Hospital, Department of Surgery and Center for Human Genetics, McGill University, Montreal, Quebec, Canada
    J Bone Miner Res 7:215-20. 1992
    ..These observations add further support to the concept that the osteoblast is an important target for the Hyp mutation...
  67. ncbi request reprint Osteogenesis imperfecta
    Frank Rauch
    Genetics Unit, Shriners Hospital for Children and McGill University, 1529 Cedar Avenue, Montreal, Quebec, Canada H3G 1A6
    Lancet 363:1377-85. 2004
    ..Although this treatment does not constitute a cure, it is an adjunct to physiotherapy, rehabilitation, and orthopaedic care. Gene-based therapy presently remains in the early stages of preclinical research...
  68. ncbi request reprint Respiratory distress with pamidronate treatment in infants with severe osteogenesis imperfecta
    Craig F Munns
    Genetics Unit, Shriners Hospital for Children and McGill University, Montreal, Quebec, Canada
    Bone 35:231-4. 2004
    ..The etiology is unclear but may involve cytokine release and/or hemodynamic compromise from fluid administration during the first infusion cycle. Close monitoring throughout the first treatment cycle is of paramount importance...
  69. ncbi request reprint Quantitative immunogold labeling of bone sialoprotein and osteopontin in methylmethacrylate-embedded rat bone
    O Laboux
    Laboratory for the Study of Calcified Tissues and Biomaterials, Faculty of Dentistry, Universite de Montreal, Quebec, Canada
    J Histochem Cytochem 51:61-7. 2003
    ..These results indicate that MMA performs as well as LRW for the ultrastructural immunolabeling of noncollagenous bone matrix proteins...
  70. ncbi request reprint Increased expression of the c-fos proto-oncogene in bone from patients with fibrous dysplasia
    G A Candeliere
    Genetics Unit, Shriners Hospital, Montreal, QC, Canada
    N Engl J Med 332:1546-51. 1995
    ....
  71. ncbi request reprint Human 25-hydroxyvitamin D 24-hydroxylase cytochrome P450 subunit maps to a different chromosomal location than that of pseudovitamin D-deficient rickets
    M Labuda
    Genetics Unit, Shriners Hospital for Crippled Children, Montreal, Quebec, Canada
    J Bone Miner Res 8:1397-406. 1993
    ..Since it is likely that PDDR is caused by a mutation in the 25-OHD 1 alpha-hydroxylase P450 subunit (P450cc1 alpha) our results do not support the hypothesis that the two cytochromes are encoded by a single gene...
  72. doi request reprint Tooth extraction socket healing in pediatric patients treated with intravenous pamidronate
    Carol Chahine
    From the Faculty of Dentistry, Division of Oral and Maxillofacial Surgery, Montreal, Quebec, Canada
    J Pediatr 153:719-20. 2008
    ..In the present study, we did not find a case of ONJ among 278 pediatric patients who had received intravenous pamidronate during childhood or adolescence...
  73. ncbi request reprint Bisphosphonate treatment in osteogenesis imperfecta: which drug, for whom, for how long?
    Frank Rauch
    Genetics Unit, Shriners Hospital for Children and McGill University, Montreal, Québecm Canada
    Ann Med 37:295-302. 2005
    ..Such patients should not be treated unless clear clinical benefit can be demonstrated in ongoing placebo-controlled trials...
  74. ncbi request reprint Treatment of children with osteogenesis imperfecta
    Frank Rauch
    Genetics Unit, Shriners Hospital for Children, 1529 Cedar Avenue, Montreal, Quebec, Canada H3G 1A6
    Curr Osteoporos Rep 4:159-64. 2006
    ..Medical therapies other than bisphosphonates play a minor role at present. Gene-based therapy currently remains in the realm of preclinical research...
  75. ncbi request reprint Rapid increase in grip force after start of pamidronate therapy in children and adolescents with severe osteogenesis imperfecta
    Kathleen Montpetit
    Shriners Hospital, McGill University, Montreal, Quebec, Canada
    Pediatrics 111:e601-3. 2003
    ..To examine changes in grip force during pamidronate therapy in children and adolescents with severe osteogenesis imperfecta (OI)...
  76. ncbi request reprint Cellular activity on the seven surfaces of iliac bone: a histomorphometric study in children and adolescents
    Frank Rauch
    Genetics Unit, Shriners Hospital, McGill University, Montreal, Quebec, Canada
    J Bone Miner Res 21:513-9. 2006
    ..5-22.9 years of age. During the growing years, the two cortices of an iliac bone specimen differ with regard to bone cell activity on their surfaces, probably reflecting a modeling drift...
  77. doi request reprint Hyperplastic callus formation in osteogenesis imperfecta type V: follow-up of three generations over ten years
    Moira S Cheung
    Genetics Unit, Shriners Hospital for Children and McGill University, Montreal, Quebec, Canada
    Skeletal Radiol 37:465-7. 2008
    ..This case report makes it clear that HPC can lead to significant morbidity, not only in the acute phase but also long term as a result of residual alteration in bone architecture...
  78. ncbi request reprint Acetabular protrusion in osteogenesis imperfecta
    Philippe Violas
    Shriners Hospital for Children, Division of Orthopedic Surgery, McGill University, Montreal, Quebec, Canada
    J Pediatr Orthop 22:622-5. 2002
    ..The authors conclude that in this series of 79 patients with OI, AP is not uncommon and in rare cases may lead to severe medical complications...
  79. ncbi request reprint Natural history of hyperplastic callus formation in osteogenesis imperfecta type V
    Moira S Cheung
    Genetics Unit, Shriners Hospital for Children and McGill University, Montreal, Quebec, Canada
    J Bone Miner Res 22:1181-6. 2007
    ..Hyperplastic callus formation was assessed in 23 patients with osteogenesis imperfecta type V. Hyperplastic callus mostly affected long bones in the lower extremities and occurred predominantly during phases of rapid growth...
  80. ncbi request reprint Bisphosphonates in children with bone diseases
    Francis H Glorieux
    N Engl J Med 349:2068-71; author reply 2068-71. 2003
  81. ncbi request reprint Positive linear growth and bone responses to growth hormone treatment in children with types III and IV osteogenesis imperfecta: high predictive value of the carboxyterminal propeptide of type I procollagen
    Joan C Marini
    Section on Connective Tissue Disorders, HDB, NICHD, National Institutes of Health, Bethesda, Maryland 20892, USA
    J Bone Miner Res 18:237-43. 2003
    ..In the first year of treatment, growth responders achieve increased bone formation rate and density, and decreased fracture rates. The baseline plasma concentration of PICP was an excellent predictor of positive response...
  82. ncbi request reprint Bone mineralization and growth are enhanced in preterm infants fed an isocaloric, nutrient-enriched preterm formula through term
    Alexandre Lapillonne
    US Department of Agriculture Agricultural Research Service Children s Nutrition Research Center, Baylor College of Medicine, Houston, USA
    Am J Clin Nutr 80:1595-603. 2004
    ..Because recent data on the effects of mineral concentrations in preterm infant formula on bone mineralization are lacking, recommendations for the mineral content of preterm infant formula differ greatly between committees...
  83. ncbi request reprint Urinary excretion of cross-linked N-telopeptides of type 1 collagen to assess bone resorption in infants from birth to 1 year of age
    Alexandre Lapillonne
    Department of Neonatology, Hopital Edouard Herriot, Lyon, France
    Pediatrics 110:105-9. 2002
    ....
  84. ncbi request reprint Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans
    Joan C Marini
    Bone and Extracellular Matrix Branch, National Institute of Child Health and Human Development, NIH, Bethesda, Maryland 20892, USA
    Hum Mutat 28:209-21. 2007
    ..Our data on genotype-phenotype relationships indicate that the two collagen chains play very different roles in matrix integrity and that phenotype depends on intracellular and extracellular events...
  85. ncbi request reprint Bone resorption in infants of diabetic mothers
    Alexandre Lapillonne
    Department of Neonatology and Nutrition, Paris V University, Hopital Saint Vincent de Paul, 82 avenue Denfert Rochereau, 75674 Paris Cedex 14, France
    Acta Paediatr 94:856-8. 2005
  86. ncbi request reprint Pamidronate does not adversely affect bone intrinsic material properties in children with osteogenesis imperfecta
    Markus Weber
    Ludwig Boltzmann Institute of Osteology at the Hanusch Hospital of WGKK and AUVA Trauma Centre Meidling, 4th Med Dept, Hanusch Hospital, Heinrich Collin Str 30, A 1140 Vienna, Austria
    Bone 39:616-22. 2006
    ..The antifracture effectiveness of pamidronate treatment in OI, as shown in previous clinical studies, has to be explained by the increase of mainly cortical bone volume...
  87. doi request reprint Evidence that abnormal high bone mineralization in growing children with osteogenesis imperfecta is not associated with specific collagen mutations
    Paul Roschger
    Ludwig Boltzmann Institute of Osteology at the Hanusch Hospital of WGKK and AUVA Trauma Center Meidling, 4th Medical Department, Hanusch Hospital, Heinrich Collin Str 30, 1140, Vienna, Austria
    Calcif Tissue Int 82:263-70. 2008
    ..In summary, the tissue- and material-level abnormalities found in OI-I (low bone mass and increased mineral content of the matrix) seem to be independent of the collagen mutations...
  88. ncbi request reprint CRTAP is required for prolyl 3- hydroxylation and mutations cause recessive osteogenesis imperfecta
    Roy Morello
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Cell 127:291-304. 2006
    ..In humans, CRTAP mutations are associated with the clinical spectrum of recessive osteogenesis imperfecta, including the type II and VII forms. Hence, dysregulation of prolyl 3-hydroxylation is a mechanism for connective tissue disease...
  89. ncbi request reprint Functional analysis of upper limb deformities in osteogenesis imperfecta
    Masatoshi Amako
    Department of Orthopedic Surgery, Japan Self Defense Force Sapporo General Hospital, Sapporo, Hokkaido, Japan
    J Pediatr Orthop 24:689-94. 2004
    ..Therefore, upper limb deformities in children with OI do not represent only a cosmetic problem, but may also significantly impair functional activities of daily living...
  90. ncbi request reprint Schmid type of metaphyseal chondrodysplasia and COL10A1 mutations--findings in 10 patients
    Outi Makitie
    Division of Genetics and Genomic Biology, Research Institute, Hospital for Sick Children, Toronto, Ontario, Canada
    Am J Med Genet A 137:241-8. 2005
    ..Our findings suggest that COL10A1 mutations result in a uniform pattern of growth plate abnormalities. However, the clinical variability in severity among affected individuals is greater than previously thought...