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1. 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
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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2. Full Text A Single Recurrent Mutation in the 5′-UTR of IFITM5 Causes Osteogenesis Imperfecta Type V
by Cho, Tae-Joon and Lee, Kyung-Eun and Lee, Sook-Kyung and Song, Su Jeong and Kim, Kyung Jin and Jeon, Daehyun and Lee, Gene and Kim, Ha-Neui and Lee, Hye Ran and Eom, Hye-Hyun and Lee, Zang Hee and Kim, Ok-Hwa and Park, Woong-Yang and Park, Sung Sup and Ikegawa, Shiro and Yoo, Won Joon and Choi, In Ho and Kim, Jung-Wook
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
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3. 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
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
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4. 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
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
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5. Full Text Osteogenesis imperfecta type V: marked phenotypic variability despite the presence of the IFITM5 c.−14C>T mutation in all patients
by Rauch, Frank and Moffatt, Pierre and Cheung, Moira and Roughley, Peter and Lalic, Liljana and Lund, Allan M and Ramirez, Norman and Fahiminiya, Somayyeh and Majewski, Jacek and Glorieux, Francis H
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
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6. 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
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
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7. Full Text Alendronate for the Treatment of Pediatric Osteogenesis Imperfecta: A Randomized Placebo-Controlled Study
by Ward, L. M and Rauch, F and Whyte, M. P and D'Astous, J and Gates, P. E and Grogan, D and Lester, E. L and McCall, R. E and Pressly, T. A and Sanders, J. O and Smith, P. A and Steiner, R. D and Sullivan, E and Tyerman, G and Smith-Wright, D. L and Verbruggen, N and Heyden, N and Lombardi, A and Glorieux, F. H
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
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8. Full Text Mutations in WNT1 are a cause of osteogenesis imperfecta
by Fahiminiya, Somayyeh and Majewski, Jacek and Mort, John and Moffatt, Pierre and Glorieux, Francis H and Rauch, Frank
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
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9. Full Text Osteogenesis Imperfecta Associated with Dendriform Pulmonary Ossification
by Morikawa, Miwa and Morikawa, Miwa and Fukuda, Yuh and Fukuda, Yuh and Terasaki, Yasuhiro and Terasaki, Yasuhiro and Itoh, Harumi and Itoh, Harumi and Demura, Yoshiki and Demura, Yoshiki and Sasaki, Masato and Sasaki, Masato and Imamura, Yoshiaki and Imamura, Yoshiaki and Honjo, Chisato and Honjo, Chisato and Umeda, Yukihiro and Umeda, Yukihiro and Anzai, Masaki and Anzai, Masaki and Ameshima, Shingo and Ameshima, Shingo and Ishizaki, Takeshi and Ishizaki, Takeshi and Ishizuka, Tamotsu and Ishizuka, Tamotsu
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
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10. Full Text Phenotypic Properties of Collagen in Dentinogenesis Imperfecta Associated with Osteogenesis Imperfecta
by Ibrahim, Salwa and Strange, Adam P and Aguayo, Sebastian and Shinawi, Albatool and Harith, Nabilah and Mohamed-Ibrahim, Nurjehan and Siddiqui, Samera and Parekh, Susan and Bozec, Laurent
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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