Frank Rauch

Frank Rauch

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Frank Rauch

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Musculoskeletal phenotype in two unrelated individuals with a recurrent nonsense variant in SGMS2.

Bone 2020 Feb 3;134:115261. Epub 2020 Feb 3.

Shriners Hospital for Children - Canada, McGill University, Montreal, QC, Canada.

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http://dx.doi.org/10.1016/j.bone.2020.115261DOI Listing
February 2020

Increased Burden of Common Risk Alleles in Children With a Significant Fracture History.

J Bone Miner Res 2020 Jan 8. Epub 2020 Jan 8.

Lady Davis Institute for Medical Research, Centre for Clinical Epidemiology, Jewish General Hospital, McGill University, Montreal, Canada.

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http://dx.doi.org/10.1002/jbmr.3956DOI Listing
January 2020

Osteogenesis Imperfecta: Skeletal Outcomes After Bisphosphonate Discontinuation at Final Height.

J Bone Miner Res 2019 Dec 26;34(12):2198-2204. Epub 2019 Aug 26.

Shriners Hospital for Children, Montreal, Canada.

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http://dx.doi.org/10.1002/jbmr.3833DOI Listing
December 2019

Novel ActRIIB ligand trap increases muscle mass and improves bone geometry in a mouse model of severe osteogenesis imperfecta.

Bone 2019 Nov 13;128:115036. Epub 2019 Aug 13.

Department of Pediatrics, McGill University, Montreal, Quebec, Canada; Shriners Hospital for Children-Canada, Montreal, Quebec, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.bone.2019.115036DOI Listing
November 2019

Arachidonic acid exacerbates diet-induced obesity and reduces bone mineral content without impacting bone strength in growing male rats.

J Nutr Biochem 2019 Nov 15;73:108226. Epub 2019 Aug 15.

School of Human Nutrition, McGill University, 21111 Lakeshore Road, Ste-Anne-de-Bellevue, QC, Canada H9X 3V9. Electronic address:

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http://dx.doi.org/10.1016/j.jnutbio.2019.108226DOI Listing
November 2019

A de novo frameshift FGFR1 mutation extending the protein in an individual with multiple epiphyseal dysplasia and hypogonadotropic hypogonadism without anosmia.

Eur J Med Genet 2019 Oct 9:103784. Epub 2019 Oct 9.

Division of Medical Genetics, Department of Pediatrics, CHU Sainte-Justine Hospital, University of Montreal, Montreal, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2019.103784DOI Listing
October 2019

ALPL mutations in adults with rheumatologic disorders and low serum alkaline phosphatase activity.

J Bone Miner Metab 2019 Sep 4;37(5):893-899. Epub 2019 Feb 4.

Children's Hospital Research Institute of Manitoba, University of Manitoba, Winnipeg, MB, Canada.

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http://dx.doi.org/10.1007/s00774-019-00991-4DOI Listing
September 2019

Mendelian bone fragility disorders.

Bone 2019 Sep 27;126:11-17. Epub 2019 Apr 27.

Shriners Hospital for Children, Montreal, Quebec, Canada. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S87563282193015
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http://dx.doi.org/10.1016/j.bone.2019.04.021DOI Listing
September 2019

Mineralized tissues in hypophosphatemic rickets.

Pediatr Nephrol 2019 Aug 8. Epub 2019 Aug 8.

Shriners Hospital for Children and McGill University, 1003 Boulevard Decarie, Montreal, Québec, H4A 0A9, Canada.

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http://dx.doi.org/10.1007/s00467-019-04290-yDOI Listing
August 2019

Osteogenesis Imperfecta: New Perspectives From Clinical and Translational Research.

JBMR Plus 2019 Aug 20;3(8):e10174. Epub 2019 Feb 20.

Shriners Hospital for Children Montreal Quebec Canada.

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http://doi.wiley.com/10.1002/jbm4.10174
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http://dx.doi.org/10.1002/jbm4.10174DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6715783PMC
August 2019

Development of the Good2Go MyHealth Passport for individuals with Osteogenesis Imperfecta: A knowledge-synthesis study.

Int J Orthop Trauma Nurs 2019 05 5;33:27-34. Epub 2018 Dec 5.

McGill University, Ingram School of Nursing, 680 Sherbrooke Street West, Suite 1800, Montreal, Quebec, H3A 2M7, Canada; Shriners Hospitals for Children®-Canada, 1003 Decarie Blvd, Montreal, QC, H4A 0A9, Canada. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S18781241183009
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http://dx.doi.org/10.1016/j.ijotn.2018.11.005DOI Listing
May 2019

The Bone Phenotype and Pain Response to Pamidronate in Tyrosine Kinase Inhibitor-Treated Chronic Myelogenous Leukemia.

J Endocr Soc 2019 May 11;3(5):857-864. Epub 2019 Mar 11.

Pediatric Bone Health Clinical Research Program, Children's Hospital of Eastern Ontario Research Institute, Ottawa, Ontario, Canada.

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http://dx.doi.org/10.1210/js.2018-00268DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6462212PMC
May 2019

Five-year efficacy and safety of asfotase alfa therapy for adults and adolescents with hypophosphatasia.

Bone 2019 04 18;121:149-162. Epub 2018 Dec 18.

Center for Metabolic Bone Disease and Molecular Research, Shriners Hospital for Children, St. Louis, MO, USA; Division of Bone and Mineral Diseases, Department of Internal Medicine, Washington University School of Medicine at Barnes-Jewish Hospital, St. Louis, MO, USA. Electronic address:

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http://dx.doi.org/10.1016/j.bone.2018.12.011DOI Listing
April 2019

Effect of Anti-TGF-β Treatment in a Mouse Model of Severe Osteogenesis Imperfecta.

J Bone Miner Res 2019 02 29;34(2):207-214. Epub 2018 Nov 29.

Shriners Hospital for Children-Canada, Montreal, Quebec, Canada.

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http://doi.wiley.com/10.1002/jbmr.3617
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http://dx.doi.org/10.1002/jbmr.3617DOI Listing
February 2019

Bladder and bowel symptoms experienced by children with osteogenesis imperfecta.

J Pediatr (Rio J) 2019 Feb 22. Epub 2019 Feb 22.

Ingram School of Nursing, Faculty of Medicine, McGill University, Montreal, Canada; Shriners Hospital for Children, Montreal, Canada.

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http://dx.doi.org/10.1016/j.jped.2018.12.008DOI Listing
February 2019

Dental and craniofacial characteristics caused by the p.Ser40Leu mutation in IFITM5.

Am J Med Genet A 2019 01 5;179(1):65-70. Epub 2018 Oct 5.

Faculty of Dentistry, McGill University, Montreal, Quebec, Canada.

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http://doi.wiley.com/10.1002/ajmg.a.40383
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http://dx.doi.org/10.1002/ajmg.a.40383DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6347491PMC
January 2019

A Best Practice Initiative to Optimize Transfer of Young Adults With Osteogenesis Imperfecta From Child to Adult Healthcare Services.

Clin Nurse Spec 2018 Nov/Dec;32(6):323-335

Author Affiliations: Nursing Student (Ms Carrier), Research Trainee (Mss Siedlikowski and Michalovic), Professor of Pediatrics (Dr Rauch), and Assistant Professor (Dr Tsimicalis), Faculty of Medicine, McGill University; and Shriners Nursing Research Coordinator (Ms Bilodeau), Research Assistant (Mss Chougui, Carrier and Siedlikowski), Director of Nursing and Patient Care Services (Ms Thorstad), Clinical Nurse (Mss Plourde and Michalovic), Physiotherapist (Mss Mercier and Thevasagayam), Occupational Therapist (Ms Lafrance), Social Worker (Ms Wong), Pediatrician (Dr Rauch), and Nurse Scientist (Dr Tsimicalis), Shriners Hospitals for Children-Canada, Montreal, Quebec, Canada.

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http://Insights.ovid.com/crossref?an=00002800-201811000-0000
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http://dx.doi.org/10.1097/NUR.0000000000000407DOI Listing
October 2018

Oral health-related quality of life in children and adolescents with osteogenesis imperfecta: cross-sectional study.

Orphanet J Rare Dis 2018 10 25;13(1):187. Epub 2018 Oct 25.

Division of Oral Health and Society, Faculty of Dentistry, McGill University, 2001 McGill College, Suite 500, Montreal, Quebec, H3A 1G1, Canada.

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https://ojrd.biomedcentral.com/articles/10.1186/s13023-018-0
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http://dx.doi.org/10.1186/s13023-018-0935-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6202869PMC
October 2018

Novel WNT1 mutations in children with osteogenesis imperfecta: Clinical and functional characterization.

Bone 2018 09 20;114:144-149. Epub 2018 Jun 20.

Shandong Medicinal Biotechnology Centre, Shandong Academy of Medical Sciences, Jinan 250062, China; School of Medicine and Life Sciences, University of Jinan-Shandong Academy of Medical Sciences, Jinan 250200, China. Electronic address:

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http://dx.doi.org/10.1016/j.bone.2018.06.018DOI Listing
September 2018

Assessment of the effect of systemic delivery of sclerostin antibodies on Wnt signaling in distraction osteogenesis.

J Bone Miner Metab 2018 Jul 24;36(4):373-382. Epub 2017 Jun 24.

Division of Orthopaedic Surgery, Shriners Hospital for Children, Montreal Children Hospital, McGill University, 1003 Decarie Blvd, Montreal, QC, H4A 0A9, Canada.

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http://dx.doi.org/10.1007/s00774-017-0847-2DOI Listing
July 2018

Pulmonary and diaphragmatic pathology in collagen type I α1 mutant mice with osteogenesis imperfecta.

Pediatr Res 2018 06 9;83(6):1165-1171. Epub 2018 May 9.

Meakins-Christie Laboratories and Respiratory Division, McGill University, Montreal, Quebec, Canada.

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http://dx.doi.org/10.1038/pr.2018.36DOI Listing
June 2018

Anabolic Therapy for the Treatment of Osteoporosis in Childhood.

Curr Osteoporos Rep 2018 06;16(3):269-276

Department of Pediatrics, Faculty of Medicine, McGill University, and Shriners Hospital for Children, 1003 Boulevard Décarie, Montréal, Québec, H4A 0A9, Canada.

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http://dx.doi.org/10.1007/s11914-018-0434-zDOI Listing
June 2018

Pain and quality of life of children and adolescents with osteogenesis imperfecta over a bisphosphonate treatment cycle.

Eur J Pediatr 2018 Jun 11;177(6):891-902. Epub 2018 Apr 11.

Clinical Research, Shriners Hospitals for Children®-Canada, 1003 Decarie Boulevard, Montreal, Quebec, Canada.

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http://dx.doi.org/10.1007/s00431-018-3127-9DOI Listing
June 2018

Hypercalcemia and hypercalciuria during denosumab treatment in children with osteogenesis imperfecta type VI.

J Musculoskelet Neuronal Interact 2018 03;18(1):76-80

Shriners Hospital for Children and McGill University, Montreal, Quebec, Canada.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5881132PMC
March 2018

Crispr-Cas9 engineered osteogenesis imperfecta type V leads to severe skeletal deformities and perinatal lethality in mice.

Bone 2018 02 22;107:131-142. Epub 2017 Nov 22.

Shriners Hospitals for Children - Canada, Montreal, Quebec, Canada; Department of Human Genetics, McGill University, Montreal, Quebec, Canada; Injury Repair and Recovery Program, McGill University Health Centre Research Institute, Montreal, Quebec, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.bone.2017.11.013DOI Listing
February 2018

Osteogenesis imperfecta type III/Ehlers-Danlos overlap syndrome in a Chinese man.

Intractable Rare Dis Res 2018 Feb;7(1):37-41

Key Laboratory for Rare & Uncommon Diseases of Shandong Province, Shandong Medicinal Biotechnology Centre, Shandong Academy of Medical Sciences, Ji'nan, China.

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http://dx.doi.org/10.5582/irdr.2018.01010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5849623PMC
February 2018

Hip Dysplasia in Children With Osteogenesis Imperfecta: Association With Collagen Type I C-Propeptide Mutations.

J Pediatr Orthop 2017 Oct/Nov;37(7):479-483

*Division of Orthopaedic Surgery, Shriners Hospital for Children, Montreal Children Hospital, McGill University, Montreal, QC, Canada †Mansoura Health Insurance Hospital, Mansoura, Egypt ‡Division of Orthopedics, King Abdulaziz University, Jeddah, Saudi Arabia.

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http://dx.doi.org/10.1097/BPO.0000000000000644DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5592982PMC
January 2018

Increased bone matrix mineralization in treatment-naïve children with inflammatory bowel disease.

Bone 2017 Dec 10;105:50-56. Epub 2017 Jul 10.

Children's Hospital of Eastern Ontario (CHEO) Research Institute, Ottawa, Ontario, Canada; Department of Paediatrics, University of Ottawa, Canada.

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http://dx.doi.org/10.1016/j.bone.2017.07.011DOI Listing
December 2017

Spondyloepimetaphysial Dysplasia with Joint Laxity in Three Siblings with Mutations.

Mol Syndromol 2017 Nov 7;8(6):303-307. Epub 2017 Sep 7.

Shriners Hospital for Children and McGill University, Department of Pediatrics, CHU Sainte-Justine Hospital, University of Montreal, Montreal, Québec, Canada.

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http://dx.doi.org/10.1159/000479672DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5701276PMC
November 2017

Static Postural Control in Youth With Osteogenesis Imperfecta Type I.

Arch Phys Med Rehabil 2017 10 19;98(10):1948-1954. Epub 2017 Apr 19.

Shriners Hospital for Children - Canada, Montreal, Quebec, Canada; Department of Kinesiology, University of Montreal, Montreal, Quebec, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.apmr.2017.03.018DOI Listing
October 2017

Muscle Function in Osteogenesis Imperfecta Type IV.

Calcif Tissue Int 2017 10 4;101(4):362-370. Epub 2017 May 4.

Genetic and Metabolic Unit, Shriners Hospital for Children-Canada, Montreal, QC, Canada.

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http://dx.doi.org/10.1007/s00223-017-0287-yDOI Listing
October 2017

Muscle-Bone Interactions in Pediatric Bone Diseases.

Curr Osteoporos Rep 2017 10;15(5):425-432

Shriners Hospital for Children, 1003 Boulevard Decarie, Montreal, QC, H4A 0A9, Canada.

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http://dx.doi.org/10.1007/s11914-017-0396-6DOI Listing
October 2017

Metabolic phenotype in the mouse model of osteogenesis imperfecta.

J Endocrinol 2017 Sep 17;234(3):279-289. Epub 2017 Jul 17.

Shriners Hospital for Children-CanadaMontreal, Quebec, Canada

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https://joe.bioscientifica.com/view/journals/joe/234/3/JOE-1
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http://dx.doi.org/10.1530/JOE-17-0335DOI Listing
September 2017

DHA and EPA in red blood cell membranes are associated with dietary intakes of omega-3-rich fish in healthy children.

Prostaglandins Leukot Essent Fatty Acids 2017 Sep 14;124:11-16. Epub 2017 Aug 14.

School of Human Nutrition, McGill University, Ste Anne de Bellevue, QC, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.plefa.2017.08.003DOI Listing
September 2017

The brains of the bones: how osteocytes use WNT1 to control bone formation.

Authors:
Frank Rauch

J Clin Invest 2017 Jun 19;127(7):2539-2540. Epub 2017 Jun 19.

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http://dx.doi.org/10.1172/JCI95386DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5490763PMC
June 2017

Diaphyseal Femur Fractures in Osteogenesis Imperfecta: Characteristics and Relationship With Bisphosphonate Treatment.

J Bone Miner Res 2017 May 28;32(5):1034-1039. Epub 2017 Feb 28.

Shriners Hospital for Children and McGill University, Montreal, Quebec, Canada.

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http://dx.doi.org/10.1002/jbmr.3071DOI Listing
May 2017

Geometry reconstruction method for patient-specific finite element models for the assessment of tibia fracture risk in osteogenesis imperfecta.

Med Biol Eng Comput 2017 Apr 17;55(4):549-560. Epub 2016 Jun 17.

Canada Research Chair in Orthopedic Engineering, Department of Mechanical Engineering, Polytechnique Montréal, P.O. Box 6079, Downtown Station, Montreal, QC, H3C 3A7, Canada.

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http://dx.doi.org/10.1007/s11517-016-1526-5DOI Listing
April 2017

The Determinants of Peak Bone Mass.

J Pediatr 2017 01 3;180:261-269. Epub 2016 Nov 3.

Eunice Kennedy Shriver National Institute of Child Health and Human Development, Bethesda, MD.

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http://dx.doi.org/10.1016/j.jpeds.2016.09.056DOI Listing
January 2017

Non-Lethal Type VIII Osteogenesis Imperfecta Has Elevated Bone Matrix Mineralization.

J Clin Endocrinol Metab 2016 09 6;101(9):3516-25. Epub 2016 Jul 6.

Ludwig Boltzmann Institute of Osteology at Hanusch Hospital of Wiener Gebietskrankenkasse and Allgemeine Unfallversicherungsanstalt Trauma Centre Meidling (N.F.-Z., P.R., K.K.), First Medical Department, Hanusch Hospital, 1140 Vienna, Austria; Section on Heritable Disorders of Bone (A.M.B., W.C., J.C.M.), Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892; The Orthopaedic Research Laboratories (M.W., D.R.E.), University of Washington, Seattle, Washington 98195; Hospital for Special Surgery (E.C., G.P., C.R.), New York, New York 10021; Department of Orthopedics (T.E.H.), Mayo Clinic College of Medicine, Rochester, Minnesota 55905; Shriners Hospital for Children (P.A.S.), Chicago, Illinois 60707; and Shriners Hospital for Children and McGill University (F.H.G., F.R.), Montreal, QC H4A 0A9, Canada.

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http://dx.doi.org/10.1210/jc.2016-1334DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5010570PMC
September 2016

Osteogenesis Imperfecta Type VI in Individuals from Northern Canada.

Calcif Tissue Int 2016 06 27;98(6):566-72. Epub 2016 Jan 27.

Shriners Hospital for Children and McGill University, 1529 Cedar Avenue, Montreal, QC, H3G 1A6, Canada.

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http://dx.doi.org/10.1007/s00223-016-0110-1DOI Listing
June 2016

The Spectrum of Recovery From Fracture-Induced Vertebral Deformity in Pediatric Leukemia.

Pediatr Blood Cancer 2016 Jun 15;63(6):1107-10. Epub 2016 Feb 15.

Pediatric Bone Health Clinical Research Program, Children's Hospital of Eastern Ontario, University of Ottawa, Ottawa, Ontario, Canada.

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http://dx.doi.org/10.1002/pbc.25942DOI Listing
June 2016

Does Sclerostin Depletion Stimulate Fracture Healing in a Mouse Model?

Clin Orthop Relat Res 2016 May 25;474(5):1294-302. Epub 2015 Nov 25.

Shriners Hospital for Children, Montreal Children's Hospital, Montreal, QC, Canada.

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http://dx.doi.org/10.1007/s11999-015-4640-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4814400PMC
May 2016

Histomorphometry and Bone Matrix Mineralization Before and After Bisphosphonate Treatment in Boys With Duchenne Muscular Dystrophy: A Paired Transiliac Biopsy Study.

J Bone Miner Res 2016 05 15;31(5):1060-9. Epub 2016 Feb 15.

Department of Pediatrics, University of Ottawa, Children's Hospital of Eastern Ontario, Ottawa, Canada.

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http://doi.wiley.com/10.1002/jbmr.2756
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http://dx.doi.org/10.1002/jbmr.2756DOI Listing
May 2016

Effect of high-dose vitamin D supplementation on bone density in youth with osteogenesis imperfecta: A randomized controlled trial.

Bone 2016 May 24;86:36-42. Epub 2016 Feb 24.

Shriners Hospital for Children and McGill University, Montreal, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.bone.2016.02.013DOI Listing
May 2016

Scoliosis in osteogenesis imperfecta caused by COL1A1/COL1A2 mutations - genotype-phenotype correlations and effect of bisphosphonate treatment.

Bone 2016 May 27;86:53-7. Epub 2016 Feb 27.

Shriners Hospital for Children and McGill University, Montreal, Quebec, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.bone.2016.02.018DOI Listing
May 2016

Bone matrix hypermineralization in prolyl-3 hydroxylase 1 deficient mice.

Bone 2016 Apr 22;85:15-22. Epub 2016 Jan 22.

Shriners Hospital for Children and McGill University, Montreal, Quebec, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.bone.2016.01.018DOI Listing
April 2016

Sclerostin: More than a bone formation brake.

Sci Transl Med 2016 Mar 16;8(330):330fs7. Epub 2016 Mar 16.

Department of Rheumatology, McMaster University, Hamilton, Ontario L8N 1Y2, Canada.

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http://dx.doi.org/10.1126/scitranslmed.aaf4628DOI Listing
March 2016

Body Composition in Children and Adolescents with Osteogenesis Imperfecta.

J Pediatr 2016 Feb 17;169:232-7. Epub 2015 Nov 17.

Shriners Hospital for Children and McGill University, Montreal, Quebec, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.jpeds.2015.10.058DOI Listing
February 2016

Evaluation of a Modified Pamidronate Protocol for the Treatment of Osteogenesis Imperfecta.

Calcif Tissue Int 2016 Jan 21;98(1):42-8. Epub 2015 Sep 21.

Bone and Mineral Unit, Division of Endocrinology, Universidade Federal de São Paulo, São Paulo, Brazil.

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http://abrasso.org.br/img/news/Short_pami_manuscript_15_09_2
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http://link.springer.com/10.1007/s00223-015-0061-y
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http://dx.doi.org/10.1007/s00223-015-0061-yDOI Listing
January 2016

Agreement of spatio-temporal gait parameters between a vertical ground reaction force decomposition algorithm and a motion capture system.

Gait Posture 2016 Jan 6;43:257-64. Epub 2015 Nov 6.

Centre de Réadaptation Marie Enfant, Research Center, Sainte-Justine University Hospital, Montréal, Québec, Canada; Groupe de Recherche en Activité Physique Adaptée (GRAPA) and Département des sciences de l'activité physique, Université du Québec à Montréal, Montréal, Québec, Canada.

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http://dx.doi.org/10.1016/j.gaitpost.2015.10.007DOI Listing
January 2016

Dietary vitamin D dose-response in healthy children 2 to 8 y of age: a 12-wk randomized controlled trial using fortified foods.

Am J Clin Nutr 2016 Jan 16;103(1):144-52. Epub 2015 Dec 16.

School of Dietetics and Human Nutrition, McGill University, Sainte Anne de Bellevue, Quebec, Canada;

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http://dx.doi.org/10.3945/ajcn.115.115956DOI Listing
January 2016

Intravenous Bisphosphonate Therapy of Young Children With Osteogenesis Imperfecta: Skeletal Findings During Follow Up Throughout the Growing Years.

J Bone Miner Res 2015 Dec 30;30(12):2150-7. Epub 2015 Jun 30.

Shriners Hospital for Children and McGill University, Montreal, Quebec, Canada.

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http://doi.wiley.com/10.1002/jbmr.2567
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http://dx.doi.org/10.1002/jbmr.2567DOI Listing
December 2015

Behavioral signs of pain and functional impairment in a mouse model of osteogenesis imperfecta.

Bone 2015 Dec 13;81:400-406. Epub 2015 Aug 13.

Faculty of Dentistry, McGill University, Montreal, QC, Canada; Alan Edwards Centre for Research on Pain, McGill University, Montreal, QC, Canada; Department of Pharmacology & Therapeutics, Faculty of Medicine, McGill University, Montreal, QC, Canada; Integrated Program in Neuroscience, McGill University, Montreal, QC, Canada; Department of Anaesthesiology, Faculty of Medicine, McGill University, Montreal, QC, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.bone.2015.08.001DOI Listing
December 2015

The functional muscle-bone unit in patients with osteogenesis imperfecta type I.

Bone 2015 Oct 21;79:52-7. Epub 2015 May 21.

Shriners Hospital for Children, 1529 Cedar Avenue, Montréal, Québec H3G 1A6, Canada; Department of Pediatrics, McGill University, 1529 Cedar Avenue, Montréal, Québec H3G 1A6, Canada; Centre de Réadaptation Marie-Enfant, Research Center, Hôpital Sainte-Justine, 5200 Bélanger Street East, Montréal, Québec H1T 1C9, Canada.

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http://dx.doi.org/10.1016/j.bone.2015.05.019DOI Listing
October 2015

Multidisciplinary Treatment of Severe Osteogenesis Imperfecta: Functional Outcomes at Skeletal Maturity.

Arch Phys Med Rehabil 2015 Oct 2;96(10):1834-9. Epub 2015 Jul 2.

Shriners Hospital for Children, Montreal, QC, Canada; McGill University, Montreal, QC, Canada.

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http://dx.doi.org/10.1016/j.apmr.2015.06.006DOI Listing
October 2015

Incident Vertebral Fractures in Children With Leukemia During the Four Years Following Diagnosis.

J Clin Endocrinol Metab 2015 Sep 14;100(9):3408-17. Epub 2015 Jul 14.

Dalhousie University (E.A.C., C.V.F., B.La.), Halifax, Nova Scotia B3H 4R2, Canada; University of Ottawa (H.M., J.Ha., N.S., M.A.M., L.M.W.), Ottawa, Ontario K1N 6N5, Canada; Université de Montréal (N.A.), Montreal, Quebec H3T 1J4, Canada; University of Calgary (P.M.M., J.Ho., D.S.), Calgary, Alberta T2N 1N4, Canada; University of Alberta (J.L.J., R.C., K.S.), Edmonton, Alberta T6G 2R3, Canada; University of British Columbia (B.Le.), Vancouver, British Columbia V6T 1Z4, Canada; University of Western Ontario (R.S.), London, Ontario N6A 3K7, Canada; McGill University (A.M.S., F.R.), Montréal, Quebec H3A 0G4, Canada; University of Manitoba (C.R., S.I.), Winnipeg, Manitoba R3T 2N2, Canada; University of Toronto (R.M.G.), Toronto, Ontario M5S 2J7, Canada; McMaster University (R.B.), Hamilton, Ontario L8S 4L8, Canada; and Brock University (J.H.), St. Catharines, Ontario L2S 3A1, Canada.

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http://dx.doi.org/10.1210/JC.2015-2176DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4909472PMC
September 2015

Mathematical model for bone mineralization.

Front Cell Dev Biol 2015 21;3:51. Epub 2015 Aug 21.

Department of Mathematics, High Point University High Point, NC, USA.

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http://dx.doi.org/10.3389/fcell.2015.00051DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4544393PMC
September 2015

Osteotomy Healing in Children With Osteogenesis Imperfecta Receiving Bisphosphonate Treatment.

J Bone Miner Res 2015 Aug 10;30(8):1362-8. Epub 2015 May 10.

Division of Orthopedic Surgery, Shriners Hospital for Children, Montreal Children's Hospital, and McGill University, Montreal, Canada.

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http://dx.doi.org/10.1002/jbmr.2486DOI Listing
August 2015

The effect of SERPINF1 in-frame mutations in osteogenesis imperfecta type VI.

Bone 2015 Jul 11;76:115-20. Epub 2015 Apr 11.

Shriners Hospital for Children and McGill University, Montreal, Quebec, Canada. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S87563282150011
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http://dx.doi.org/10.1016/j.bone.2015.04.008DOI Listing
July 2015

Homozygosity for frameshift mutations in XYLT2 result in a spondylo-ocular syndrome with bone fragility, cataracts, and hearing defects.

Am J Hum Genet 2015 Jun 28;96(6):971-8. Epub 2015 May 28.

Department of Physiological Sciences, Oklahoma State University, Stillwater, OK 74078, USA; Department of Cell Biology, University of Oklahoma Health Sciences Center, Oklahoma City, OK 73126, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2015.04.017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4457947PMC
June 2015

Unique micro- and nano-scale mineralization pattern of human osteogenesis imperfecta type VI bone.

Bone 2015 Apr 29;73:233-41. Epub 2014 Dec 29.

Max Planck Institute of Colloids and Interfaces, Dept. of Biomaterials, 14424 Potsdam, Germany.

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http://dx.doi.org/10.1016/j.bone.2014.12.023DOI Listing
April 2015

The choice of normative pediatric reference database changes spine bone mineral density Z-scores but not the relationship between bone mineral density and prevalent vertebral fractures.

J Clin Endocrinol Metab 2015 Mar 11;100(3):1018-27. Epub 2014 Dec 11.

Children's Hospital of Eastern Ontario Research Institute (J.M., M.S.), Ottawa, ON; University of Alberta (K.S., R.C.), Edmonton, AB; Université de Montréal (N.A.), Montréal, QC; University of Ottawa (J.H., M.M., N.S., L.M.W.), Ottawa, ON; University of Calgary (J.H.), Calgary, AB; University of British Columbia (B.L., D.A.C.), Vancouver, BC; McMaster University (S.A., R.B.), Hamilton, ON; Dalhousie University (E.A.C., C.V.F.), Halifax, NS; University of Toronto (R.M.G.), Toronto, ON; University of Manitoba (C.R.), Winnipeg, MB; McGill University (A.M.S., F.R.), Montréal, QC.

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http://dx.doi.org/10.1210/jc.2014-3096DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4519277PMC
March 2015

A polyadenylation site variant causes transcript-specific BMP1 deficiency and frequent fractures in children.

Hum Mol Genet 2015 Jan 11;24(2):516-24. Epub 2014 Sep 11.

Department of Human Genetics, McGill University, Montréal, QC, Canada H3A 1B1 Genetics Unit, Shriners Hospital for Children, Montréal, QC, Canada H3G 1A6 and

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http://dx.doi.org/10.1093/hmg/ddu471DOI Listing
January 2015

Normal bone density and fat mass in heterozygous SERPINF1 mutation carriers.

J Clin Endocrinol Metab 2014 Nov 15;99(11):E2446-50. Epub 2014 Aug 15.

Shriners Hospital for Children and McGill University, Montréal, Québec, Canada H3G 1A6.

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http://dx.doi.org/10.1210/jc.2014-2505DOI Listing
November 2014

Skeletal characteristics associated with homozygous and heterozygous WNT1 mutations.

Bone 2014 Oct 8;67:63-70. Epub 2014 Jul 8.

Shriners Hospital for Children and McGill University, Montreal, Quebec, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.bone.2014.06.041DOI Listing
October 2014

Targeted sequencing of a pediatric metabolic bone gene panel using a desktop semiconductor next-generation sequencer.

Calcif Tissue Int 2014 Oct 3;95(4):323-31. Epub 2014 Aug 3.

Shriners Hospital for Children and McGill University, 1529 Cedar Avenue, Montreal, QC, H3G 1A6, Canada,

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http://dx.doi.org/10.1007/s00223-014-9897-9DOI Listing
October 2014

Impact of three genetic musculoskeletal diseases: a comparative synthesis of achondroplasia, Duchenne muscular dystrophy and osteogenesis imperfecta.

Health Qual Life Outcomes 2014 Oct 25;12:151. Epub 2014 Oct 25.

Faculty of Dentistry, McGill University, 3550 University Street, H3A 2A7, Montreal, QC, Canada.

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http://dx.doi.org/10.1186/s12955-014-0151-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4332447PMC
October 2014

Topological mapping of BRIL reveals a type II orientation and effects of osteogenesis imperfecta mutations on its cellular destination.

J Bone Miner Res 2014 Sep;29(9):2004-16

Shriners Hospital for Children, Montreal, Quebec, Canada; Department of Human Genetics, McGill University, Montreal, Quebec, Canada.

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http://dx.doi.org/10.1002/jbmr.2243DOI Listing
September 2014

Effect of sclerostin antibody treatment in a mouse model of severe osteogenesis imperfecta.

Bone 2014 Sep 19;66:182-8. Epub 2014 Jun 19.

Shriners Hospital for Children, Montreal, Quebec, Canada; McGill University, Montreal, Quebec, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.bone.2014.06.015DOI Listing
September 2014

Osteoporosis caused by mutations in PLS3: clinical and bone tissue characteristics.

J Bone Miner Res 2014 Aug;29(8):1805-14

Department of Human Genetics, Faculty of Medicine, McGill University and Genome Quebec Innovation Center, Montreal, Quebec, Canada.

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http://dx.doi.org/10.1002/jbmr.2208DOI Listing
August 2014

Shaping and managing the course of a child's disease: parental experiences with osteogenesis imperfecta.

Disabil Health J 2014 Jul 20;7(3):343-9. Epub 2014 Apr 20.

Faculty of Dentistry, McGill University, 3550 University Street, Montreal, QC, Canada H3A 2A7.

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http://dx.doi.org/10.1016/j.dhjo.2014.03.002DOI Listing
July 2014