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Calcified tissue international, ISSN 0171-967X, 03/2015, Volume 96, Issue 4, pp. 307 - 312
VFA | Osteogenesis imperfecta | Vertebral fractures | Children | DXA | Life Sciences & Biomedicine | Endocrinology & Metabolism | Science & Technology | Spinal Fractures - diagnosis | Reproducibility of Results | Thoracic Vertebrae - diagnostic imaging | Bone Density | Osteogenesis Imperfecta - diagnosis | Lumbar Vertebrae - diagnostic imaging | Anthropometry | Humans | Osteogenesis Imperfecta - complications | Child, Preschool | Infant | Male | Osteogenesis Imperfecta - diagnostic imaging | Absorptiometry, Photon | Spinal Fractures - diagnostic imaging | Spine - diagnostic imaging | Adolescent | Spinal Fractures - complications | Female | Child | Fractures | Pediatrics | Vertebra | Medical imaging | Bone diseases | Index Medicus
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A Single Recurrent Mutation in the 5′-UTR of IFITM5 Causes Osteogenesis Imperfecta Type V
American journal of human genetics, ISSN 0002-9297, 08/2012, Volume 91, Issue 2, pp. 343 - 348
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | Diseases of the osteoarticular system | Malformations and congenital and or hereditary diseases involving bones. Joint deformations | Medical genetics | Biological and medical sciences | Molecular and cellular biology | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Amino Acid Sequence | Membrane Proteins - genetics | Humans | Molecular Sequence Data | Osteogenesis Imperfecta - genetics | Male | Osteogenesis Imperfecta - diagnostic imaging | 5' Untranslated Regions - genetics | Sequence Analysis, DNA | Radiography | Point Mutation - genetics | Exome - genetics | Base Sequence | Adolescent | Adult | Female | Child | Genetic Linkage | Usage | Gene mutations | Growth | Exome sequencing | Osteogenesis imperfecta | Causes of | Bones | Genetic aspects | Research | Health aspects | Membrane proteins | Proteins | Membranes | Genetic disorders | Mutation | Gene expression | Index Medicus | Report
Journal Article
Journal of bone and mineral research, ISSN 0884-0431, 09/2017, Volume 32, Issue 9, pp. 1884 - 1892
OSTEOGENESIS IMPERFECTA TYPE V | QUANTITATIVE BACKSCATTERED ELECTRON IMAGING | MATRIX MINERALIZATION | BISPHOSPHONATE TREATMENT | OSTEOCYTE LACUNAE | Life Sciences & Biomedicine | Endocrinology & Metabolism | Science & Technology | Calcinosis - genetics | Cancellous Bone - metabolism | Osteogenesis Imperfecta - metabolism | Humans | Child, Preschool | Osteogenesis Imperfecta - genetics | Calcinosis - diagnostic imaging | Male | Bone Density - genetics | Cancellous Bone - diagnostic imaging | Collagen Type I - genetics | Female | Membrane Proteins - metabolism | Calcinosis - metabolism | Child | Osteogenesis - genetics | Calcinosis - drug therapy | Collagen Type I - metabolism | Osteocytes - metabolism | Membrane Proteins - genetics | Osteogenesis - drug effects | Osteogenesis Imperfecta - drug therapy | Osteogenesis Imperfecta - diagnostic imaging | Diphosphonates - administration & dosage | Cortical Bone - metabolism | Bone Density - drug effects | Adolescent | Osteocytes - pathology | Cortical Bone - diagnostic imaging | Osteogenesis imperfecta | Bones | Density | Callus | Collagen (type I) | Calcium | Bone remodelling | Bisphosphonates | Pamidronic acid | Polarized light | Ossification | Bone growth | Forearm | Computed tomography | Biopsy | Mineralization | Dentinogenesis | Dentinogenesis imperfecta | Bone density | Interferon | Children | Mutation | Bone imaging | Osteogenesis | Bone (cancellous) | Index Medicus | Matrix mineralization | Osteocyte lacunae | Osteogenesis imperfecta type V | Bisphosphonate treatment | quantitative Backscattered Electron Imaging
Journal Article
American journal of human genetics, ISSN 0002-9297, 08/2012, Volume 91, Issue 2, pp. 349 - 357
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | Diseases of the osteoarticular system | Malformations and congenital and or hereditary diseases involving bones. Joint deformations | Medical genetics | Biological and medical sciences | Molecular and cellular biology | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Amino Acid Sequence | Codon, Initiator - genetics | Membrane Proteins - genetics | Humans | Computational Biology | Osteogenesis Imperfecta - drug therapy | Molecular Sequence Data | Osteogenesis Imperfecta - genetics | Infant | Osteogenesis Imperfecta - diagnostic imaging | 5' Untranslated Regions - genetics | Absorptiometry, Photon | Sequence Analysis, DNA | Point Mutation - genetics | Exome - genetics | Base Sequence | Diphosphonates - therapeutic use | Female | Child | Usage | Gene mutations | Growth | Exome sequencing | Osteogenesis imperfecta | Causes of | Bones | Genetic aspects | Research | Genetic translation | Genotype & phenotype | Amino acids | Genetic disorders | Mutation | Genomics | Cells | Index Medicus | Report
Journal Article
Journal of medical genetics, ISSN 0022-2593, 01/2013, Volume 50, Issue 1, pp. 21 - 24
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | Diseases of the osteoarticular system | Malformations and congenital and or hereditary diseases involving bones. Joint deformations | Medical genetics | Biological and medical sciences | Molecular and cellular biology | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Bone and Bones - pathology | Osteogenesis Imperfecta - diagnosis | Membrane Proteins - genetics | Humans | Middle Aged | Child, Preschool | Osteogenesis Imperfecta - genetics | Male | Radiography | Young Adult | Phenotype | Bone and Bones - diagnostic imaging | Adolescent | Adult | Female | Aged | Mutation | Child | Gene mutations | Genetic variation | Phenotypic plasticity | Osteogenesis imperfecta | Causes of | Genetic aspects | Research | Index Medicus
Journal Article
Journal of bone and mineral research, ISSN 0884-0431, 03/2011, Volume 26, Issue 3, pp. 666 - 672
BRITTLE BONE DISEASE | OSTEOGENESIS IMPERFECTA | FKBP10 (ALSO KNOWN AS FKBP65) | COLLAGEN | BRUCK SYNDROME | FKBP10 (also known as FKBP65) | collagen | Osteogenesis imperfecta | bruck syndrome | brittle bone disease | Life Sciences & Biomedicine | Endocrinology & Metabolism | Science & Technology | Fundamental and applied biological sciences. Psychology | Biological and medical sciences | Vertebrates: osteoarticular system, musculoskeletal system | Skeleton and joints | Genes, Recessive - genetics | Humans | Child, Preschool | Molecular Sequence Data | Osteogenesis Imperfecta - genetics | Infant | Male | Arthrogryposis - diagnostic imaging | Young Adult | DNA Mutational Analysis | Base Sequence | Adult | Female | Child | Arthrogryposis - complications | Osteogenesis Imperfecta - complications | Osteogenesis Imperfecta - diagnostic imaging | Arthrogryposis - genetics | Mutation - genetics | Tacrolimus Binding Proteins - genetics | Pregnancy | Radiography | Pedigree | Heterozygote | Protein Processing, Post-Translational | Index Medicus | Clinical Vignette
Journal Article
The journal of clinical endocrinology and metabolism, ISSN 0021-972X, 02/2011, Volume 96, Issue 2, pp. 355 - 364
Life Sciences & Biomedicine | Endocrinology & Metabolism | Science & Technology | Fundamental and applied biological sciences. Psychology | Feeding. Feeding behavior | Vertebrates: anatomy and physiology, studies on body, several organs or systems | Vertebrates: endocrinology | Biological and medical sciences | Endocrinopathies | Medical sciences | Follow-Up Studies | Osteogenesis Imperfecta - metabolism | Humans | Child, Preschool | Fractures, Bone - epidemiology | Male | Alendronate - therapeutic use | Fracture Healing - drug effects | Ilium - diagnostic imaging | Bone and Bones - diagnostic imaging | Bone and Bones - metabolism | Pain - etiology | Female | Child | Bone Density | Bone Density Conservation Agents - adverse effects | Double-Blind Method | Osteogenesis Imperfecta - drug therapy | Bone Density Conservation Agents - therapeutic use | Radiography | Alendronate - adverse effects | Spine - diagnostic imaging | Adolescent | Ilium - pathology | Osteogenesis Imperfecta - pathology | Patient Compliance | Self Care | Muscle Strength - physiology | Index Medicus | Abridged Index Medicus
Journal Article
Journal of medical genetics, ISSN 0022-2593, 05/2013, Volume 50, Issue 5, pp. 345 - 348
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Amino Acid Sequence | Wnt1 Protein - genetics | Humans | Models, Molecular | Molecular Sequence Data | Osteogenesis Imperfecta - genetics | Sequence Analysis, DNA | Mutation, Missense - genetics | Radiography | Pedigree | Base Sequence | Bone and Bones - diagnostic imaging | Female | Protein Conformation | Frameshift Mutation - genetics | Wnt1 Protein - chemistry | Osteogenesis imperfecta | Causes of | Genetic aspects | Research | Gene mutations | Index Medicus
Journal Article
American journal of respiratory and critical care medicine, ISSN 1073-449X, 02/2016, Volume 193, Issue 4, pp. 460 - 461
Respiratory System | Life Sciences & Biomedicine | Critical Care Medicine | General & Internal Medicine | Science & Technology | Ossification, Heterotopic - complications | Diagnosis, Differential | Lung - pathology | Ossification, Heterotopic - pathology | Humans | Osteogenesis Imperfecta - complications | Ossification, Heterotopic - diagnostic imaging | Male | Osteogenesis Imperfecta - diagnostic imaging | Tomography, X-Ray Computed | Lung - diagnostic imaging | Lung Diseases - diagnostic imaging | Young Adult | Biopsy | Adult | Osteogenesis Imperfecta - pathology | Lung Diseases - complications | Lung Diseases - pathology | Index Medicus | Abridged Index Medicus
Journal Article
International journal of nanomedicine, ISSN 1178-2013, 01/2019, Volume 14, pp. 9423 - 9435
Pharmacology & Pharmacy | Science & Technology - Other Topics | Nanoscience & Nanotechnology | Life Sciences & Biomedicine | Science & Technology | Osteogenesis Imperfecta - metabolism | Dentinogenesis Imperfecta - diagnostic imaging | Dentin - metabolism | Humans | Elasticity | Dentin - ultrastructure | Osteogenesis Imperfecta - diagnostic imaging | Molar | Hardness | Spectroscopy, Fourier Transform Infrared | Collagen - metabolism | Phenotype | Tooth Demineralization | Radiography, Bitewing | Dentinogenesis Imperfecta - metabolism | Index Medicus | dentinogenesis imperfecta | collagen | demineralisation | dentin | atomic force microscopy | dentistry
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