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1. Full Text A Single Recurrent Mutation in the 5′-UTR of IFITM5 Causes Osteogenesis Imperfecta Type V
by Cho, Tae-Joon and Lee, Hye Ran and Lee, Sook-Kyung and Lee, Zang Hee and Lee, Kyung-Eun and Lee, Gene and Song, Su Jeong and Kim, Ok-Hwa and Kim, Jung-Wook and Kim, Ha-Neui and Kim, Kyung Jin and Jeon, Daehyun and Eom, Hye-Hyun and Park, Sung Sup and Park, Woong-Yang and Ikegawa, Shiro and Yoo, Won Joon and Choi, In Ho
The American Journal of Human Genetics, ISSN 0002-9297, 08/2012, Volume 91, Issue 2, pp. 343 - 348
Osteogenesis imperfecta (OI) is a heterogenous group of genetic disorders of bone fragility. OI type V is an autosomal-dominant disease characterized by... 
CLASSIFICATION | GENETICS & HEREDITY | 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 | Report
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2. Full Text A Mutation in the 5′-UTR of IFITM5 Creates an In-Frame Start Codon and Causes Autosomal-Dominant Osteogenesis Imperfecta Type V with Hyperplastic Callus
by Semler, Oliver and Garbes, Lutz and Keupp, Katharina and Swan, Daniel and Zimmermann, Katharina and Becker, Jutta and Iden, Sandra and Wirth, Brunhilde and Eysel, Peer and Koerber, Friederike and Schoenau, Eckhard and Bohlander, Stefan K and Wollnik, Bernd and Netzer, Christian
The American Journal of Human Genetics, ISSN 0002-9297, 08/2012, Volume 91, Issue 2, pp. 349 - 357
Osteogenesis imperfecta (OI) is a clinically and genetically heterogeneous disorder associated with bone fragility and susceptibility to fractures after... 
AMINO-ACID-SEQUENCE | COLLAGEN | GENE | UPSTREAM | FORM | GENETICS & HEREDITY | HUMANS | GLYCOSYLATION | IDENTIFICATION | EXPRESSION | PREDICTION | 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 | Report
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3. Full Text Exome Sequencing Identifies Truncating Mutations in Human SERPINF1 in Autosomal-Recessive Osteogenesis Imperfecta
by Becker, Jutta and Semler, Oliver and Gilissen, Christian and Li, Yun and Bolz, Hanno Jörn and Giunta, Cecilia and Bergmann, Carsten and Rohrbach, Marianne and Koerber, Friederike and Zimmermann, Katharina and de Vries, Petra and Wirth, Brunhilde and Schoenau, Eckhard and Wollnik, Bernd and Veltman, Joris A and Hoischen, Alexander and Netzer, Christian
The American Journal of Human Genetics, ISSN 0002-9297, 2011, Volume 88, Issue 3, pp. 362 - 371
Osteogenesis imperfecta (OI) is a heterogeneous genetic disorder characterized by bone fragility and susceptibility to fractures after minimal trauma. After... 
EPITHELIUM-DERIVED FACTOR | PROLYL 3-HYDROXYLATION | PEDF | ANGIOGENESIS | BONE-FORMATION | GENETICS & HEREDITY | NEUROTROPHIC ACTIVITY | MOLECULAR CHAPERONE | I COLLAGEN | PROCOLLAGEN | LETHAL FORM | Serpins - genetics | Genes, Recessive - genetics | Humans | Child, Preschool | Molecular Sequence Data | Osteogenesis Imperfecta - genetics | Exons - genetics | Infant | Osteogenesis Imperfecta - diagnostic imaging | Mutation - genetics | Radiography | Homozygote | DNA Mutational Analysis | Nerve Growth Factors - genetics | Base Sequence | Adolescent | Eye Proteins - genetics | Child | Usage | Care and treatment | Gene mutations | Osteogenesis imperfecta | Causes of | Research | Nucleotide sequencing | Homozygosity | Report
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4. Full Text Mutations in FKBP10 cause recessive osteogenesis imperfecta and bruck syndrome
by Kelley, Brian P and Malfait, Fransiska and Bonafe, Luisa and Baldridge, Dustin and Homan, Erica and Symoens, Sofie and Willaert, Andy and Elcioglu, Nursel and Van Maldergem, Lionel and Verellen‐Dumoulin, Christine and Gillerot, Yves and Napierala, Dobrawa and Krakow, Deborah and Beighton, Peter and Superti‐Furga, Andrea and De Paepe, Anne and Lee, Brendan
Journal of Bone and Mineral Research, ISSN 0884-0431, 03/2011, Volume 26, Issue 3, pp. 666 - 672
Osteogenesis imperfecta (OI) is a genetic disorder of connective tissue characterized by bone fragility and alteration in synthesis and posttranslational... 
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 | CROSS-LINKING | I COLLAGEN | FK506-BINDING PROTEIN | IDENTIFICATION | CARTILAGE | CONGENITAL JOINT CONTRACTURES | TELOPEPTIDE LYSYL HYDROXYLASE | BONE FRAGILITY | ENDOCRINOLOGY & METABOLISM | ELASTIN | ENDOPLASMIC-RETICULUM | 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 | Clinical Vignette
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5. Full Text Osteogenesis imperfecta – A clinical update
by Tournis, Symeon and Dede, Anastasia D
Metabolism, ISSN 0026-0495, 2017, Volume 80, pp. 27 - 37
Abstract Osteogenesis imperfecta (OI) is the most common inherited form of bone fragility and includes a heterogenous group of genetic disorders which most... 
Endocrinology & Metabolism | Bone fragility | Blue sclerae | Atypical fracture | Zebra sign | Collagen | VITAMIN-D SUPPLEMENTATION | GENOTYPE-PHENOTYPE CORRELATIONS | WNT1 MUTATIONS | ZOLEDRONIC ACID | TERIPARATIDE TREATMENT | INTRAVENOUS BISPHOSPHONATE TREATMENT | MUSCLE FUNCTION | ENDOCRINOLOGY & METABOLISM | DELETION MUTATION | SCLEROSTIN ANTIBODY TREATMENT | BRTL/+ MOUSE MODEL | Bone Density | Humans | Osteogenesis Imperfecta - genetics | Osteogenesis Imperfecta - therapy | Adult | Osteogenesis Imperfecta - diagnostic imaging | Osteogenesis Imperfecta - pathology | Child
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6. Full Text Deficiency of Cartilage-Associated Protein in Recessive Lethal Osteogenesis Imperfecta
by Barnes, Aileen M and Chang, Weizhong and Morello, Roy and Cabral, Wayne A and Weis, MaryAnn and Eyre, David R and Leikin, Sergey and Makareeva, Elena and Kuznetsova, Natalia and Uveges, Thomas E and Ashok, Aarthi and Flor, Armando W and Mulvihill, John J and Wilson, Patrick L and Sundaram, Usha T and Lee, Brendan and Marini, Joan C
The New England Journal of Medicine, ISSN 0028-4793, 12/2006, Volume 355, Issue 26, pp. 2757 - 2764
Mutations in type I collagen cause classic osteogenesis imperfecta, an autosomal dominant disease; however, a recessive form has long been suspected. The... 
Extracellular Matrix Proteins - deficiency | Extracellular Matrix Proteins - genetics | Humans | Collagen Type I - chemistry | Osteogenesis Imperfecta - genetics | Male | Osteogenesis Imperfecta - diagnostic imaging | Genes, Recessive | Extracellular Matrix Proteins - analysis | Radiography | DNA Mutational Analysis | Ultrasonography, Prenatal | Female | Osteogenesis Imperfecta - pathology | Mutation | Infant, Newborn | Fibroblasts - chemistry | Osteogenesis imperfecta | Care and treatment | Diagnosis | Risk factors | Pregnancy | Proteins | Differential scanning calorimetry | Genes | Amino acids | Bone diseases | Patients | Mass spectrometry
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7. Full Text Correlations Between Bone Mechanical Properties and Bone Composition Parameters in Mouse Models of Dominant and Recessive Osteogenesis Imperfecta and the Response to Anti‐TGF‐β Treatment
by Bi, Xiaohong and Grafe, Ingo and Ding, Hao and Flores, Rene and Munivez, Elda and Jiang, Ming Ming and Dawson, Brian and Lee, Brendan and Ambrose, Catherine G
Journal of Bone and Mineral Research, ISSN 0884-0431, 02/2017, Volume 32, Issue 2, pp. 347 - 359
ABSTRACT Osteogenesis imperfecta (OI) is a group of genetic disorders characterized by brittle bones that are prone to fracture. Although previous studies in... 
OSTEOGENESIS IMPERFECTA | MATRIX MINERALIZATION | ANALYSIS/QUANTIFICATION OF BONE | BIOMECHANICS | STATISTICAL METHODS | COLLAGEN CROSS-LINKING | OIM MICE | RAMAN-SPECTROSCOPY | MINERAL PROPERTIES | TISSUE-LEVEL | MURINE MODEL | GROWTH-FACTOR-BETA | MICROMECHANICAL PROPERTIES | ENDOCRINOLOGY & METABOLISM | ALENDRONATE TREATMENT | HUMAN CORTICAL BONE | Bone and Bones - pathology | Collagen Type I - metabolism | Femur - pathology | Mice, Inbred C57BL | Osteogenesis Imperfecta - drug therapy | Osteogenesis Imperfecta - diagnostic imaging | Femur - diagnostic imaging | Femur - physiopathology | Genes, Recessive | X-Ray Microtomography | Regression Analysis | Biomechanical Phenomena | Bone and Bones - physiopathology | Animals | Proteins - metabolism | Genes, Dominant | Bone and Bones - diagnostic imaging | Osteogenesis Imperfecta - physiopathology | Transforming Growth Factor beta - antagonists & inhibitors | Spectrum Analysis, Raman | Disease Models, Animal
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8. Full Text Homozygosity for a Missense Mutation in SERPINH1, which Encodes the Collagen Chaperone Protein HSP47, Results in Severe Recessive Osteogenesis Imperfecta
by Christiansen, Helena E and Schwarze, Ulrike and Pyott, Shawna M and AlSwaid, Abdulrahman and Al Balwi, Mohammed and Alrasheed, Shatha and Pepin, Melanie G and Weis, Mary Ann and Eyre, David R and Byers, Peter H
The American Journal of Human Genetics, ISSN 0002-9297, 2010, Volume 86, Issue 3, pp. 389 - 398
Osteogenesis imperfecta (OI) is characterized by bone fragility and fractures that may be accompanied by bone deformity, dentinogenesis imperfecta, short... 
CHAIN | CRTAP | GENETICS & HEREDITY | MOLECULAR CHAPERONE | I COLLAGEN | BONE | PROCOLLAGEN | DEFICIENCY | PROPEPTIDE | Osteogenesis Imperfecta - metabolism | Humans | Collagen Type I - chemistry | Child, Preschool | Endoplasmic Reticulum - metabolism | Molecular Sequence Data | Osteogenesis Imperfecta - genetics | Male | Mutation, Missense | Base Sequence | Fatal Outcome | Conserved Sequence | Female | Protein Stability | Amino Acid Sequence | Collagen Type I - metabolism | Osteogenesis Imperfecta - diagnostic imaging | Genes, Recessive | HSP47 Heat-Shock Proteins - genetics | DNA - genetics | Radiography | Sequence Homology, Amino Acid | Homozygote | Phenotype | Pedigree | HSP47 Heat-Shock Proteins - metabolism | Consanguinity | Proteasome Endopeptidase Complex - metabolism | Amino Acid Substitution | Osteogenesis imperfecta | Genetic aspects | Research | Gene mutations | Homozygosity
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9. Full Text FMT-XCT: In vivo animal studies with hybrid fluorescence molecular tomography-X-ray computed tomography
by Ale, Angelique and Ermolayev, Vladimir and Herzog, Eva and Cohrs, Christian and De Angelis, Martin Hrabé and Ntziachristos, Vasilis
Nature Methods, ISSN 1548-7091, 06/2012, Volume 9, Issue 6, pp. 615 - 620
The development of hybrid optical tomography methods to improve imaging performance has been suggested over a decade ago and has been experimentally... 
LUNG-CANCER | DIFFUSE OPTICAL TOMOGRAPHY | MRI | PET/CT | BIOCHEMICAL RESEARCH METHODS | MODEL | REGULARIZATION | BREAST | Head and Neck Neoplasms - diagnostic imaging | Fluorescence | Tomography, Optical - methods | Tomography, X-Ray Computed - methods | Lung Neoplasms - pathology | Osteogenesis Imperfecta - diagnostic imaging | Image Processing, Computer-Assisted - methods | Equipment Design | Mammary Neoplasms, Experimental - diagnostic imaging | Head and Neck Neoplasms - pathology | Animals | Mammary Neoplasms, Experimental - pathology | Female | Lung Neoplasms - diagnostic imaging | Osteogenesis Imperfecta - pathology | Mice | Bone Remodeling | Disease Models, Animal | CT imaging | Usage | SPECT imaging | Diagnosis | Research | Cancer | Tomography | Scientific imaging | Optical measuring instruments
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10. Full Text Hypermineralization and High Osteocyte Lacunar Density in Osteogenesis Imperfecta Type V Bone Indicate Exuberant Primary Bone Formation
by Blouin, Stéphane and Fratzl‐Zelman, Nadja and Glorieux, Francis H and Roschger, Paul and Klaushofer, Klaus and Marini, Joan C and Rauch, Frank
Journal of Bone and Mineral Research, ISSN 0884-0431, 09/2017, Volume 32, Issue 9, pp. 1884 - 1892
ABSTRACT In contrast to “classical” forms of osteogenesis imperfecta (OI) types I to IV, caused by a mutation in COL1A1/A2, OI type V is due to a... 
OSTEOGENESIS IMPERFECTA TYPE V | QUANTITATIVE BACKSCATTERED ELECTRON IMAGING | MATRIX MINERALIZATION | BISPHOSPHONATE TREATMENT | OSTEOCYTE LACUNAE | PAMIDRONATE | GENOTYPE | COLLAGEN MUTATIONS | PHENOTYPIC VARIABILITY | MINERALIZATION DENSITY | HYPERPLASTIC CALLUS | CHILDREN | IFITM5 MUTATION | ADOLESCENTS | ENDOCRINOLOGY & METABOLISM | BIOPSIES | 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) | Matrix mineralization | Osteocyte lacunae | Osteogenesis imperfecta type V | Bisphosphonate treatment | quantitative Backscattered Electron Imaging
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11. Full Text Reliability of Vertebral Fractures Assessment (VFA) in Children with Osteogenesis Imperfecta
by Diacinti, D and Pisani, D and D’Avanzo, M and Celli, M and Zambrano, A and Stoppo, M and Diacinti, Davide and Roggini, M and Todde, F and D’Eufemia, P and Pepe, Jessica and Minisola, S
Calcified Tissue International, ISSN 0171-967X, 03/2015, Volume 96, Issue 4, pp. 307 - 312
The aim of this study is to evaluate the diagnostic accuracy of vertebral fractures assessment (VFA) in comparison with conventional radiography in identifying... 
VFA | Osteogenesis imperfecta | Vertebral fractures | Children | DXA | DEFORMITY | DIAGNOSIS | BONE DENSITOMETRY | RADIOGRAPHY | OSTEOPOROSIS | MORPHOMETRY | ENDOCRINOLOGY & METABOLISM | INTRAVENOUS PAMIDRONATE TREATMENT | 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
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12. Full Text Prolyl 3-hydroxylase 1 deficiency causes a recessive metabolic bone disorder resembling lethal/severe osteogenesis imperfecta
by Barnes, Aileen M and Makareeva, Elena and Smith, Peter A and Eyre, David R and Kuznetsova, Natalia V and Cabral, Wayne A and Bulas, Dorothy I and Scott, Melissa A and Leikin, Sergey and Kozma, Chahira and Chang, Weizhong and Weis, MaryAnn and Rosenbaum, Kenneth N and Marini, Joan C and Tifft, Cynthia J
Nature Genetics, ISSN 1061-4036, 03/2007, Volume 39, Issue 3, pp. 359 - 365
A recessive form of severe osteogenesis imperfecta that is not caused by mutations in type I collagen has long been suspected. Mutations in human CRTAP... 
CARTILAGE-ASSOCIATED PROTEIN | FIBRILS | COLLAGEN TRIPLE-HELIX | DISEASE | GENETICS & HEREDITY | LEPRECAN | I COLLAGEN | MUTATIONS | IDENTIFICATION | MEMBRANE-ASSOCIATED PROTEOGLYCAN | RESIDUES | Humans | Collagen Type I - secretion | Osteogenesis Imperfecta - genetics | Bone Diseases, Metabolic - pathology | Male | Osteogenesis Imperfecta - diagnostic imaging | Genes, Recessive | Membrane Glycoproteins - genetics | Radiography | Proteoglycans - deficiency | Phenotype | Procollagen-Proline Dioxygenase - deficiency | Procollagen-Proline Dioxygenase - genetics | Time Factors | Ultrasonography, Prenatal | Mass Spectrometry | Female | Osteogenesis Imperfecta - pathology | Bone Diseases, Metabolic - genetics | Mutation |