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European Journal of Human Genetics, ISSN 1018-4813, 08/2015, Volume 23, Issue 8, pp. 1042 - 1050
Osteogenesis imperfecta (OI) is a rare hereditary bone fragility disorder, caused by collagen I mutations in 90% of cases. There are no comprehensive... 
COL1A1 | PROTEIN | HELICAL DOMAIN | BIOCHEMISTRY & MOLECULAR BIOLOGY | GENETICS & HEREDITY | I COLLAGEN | MUTATIONS | OSTEOPOROSIS | Genetics, Population | Genetic Association Studies | Humans | Child, Preschool | Osteogenesis Imperfecta - genetics | Male | Bone Density - genetics | Sweden | Collagen Type I - genetics | Molecular Epidemiology | DNA Mutational Analysis | Osteogenesis Imperfecta - epidemiology | Adult | Female | Osteogenesis Imperfecta - pathology | Mutation | Child | Pediatrics | Collagen (type I) | Serine | Population studies | Glycine | Epidemiology | Data bases | Consortia | Genotype & phenotype | Dentinogenesis | Population | Genetics | Bones | Dentinogenesis imperfecta | Bone density | Children | Genotypes | Phenotypes | Children & youth | Fractures | Collagen | Osteogenesis imperfecta | Bone mineral density | Binding sites | Osteogenesis | Basic Medicine | Medical Genetics | Medicinsk genetik | Medical Biotechnology | Medical and Health Sciences | Medicin och hälsovetenskap | Medicinska och farmaceutiska grundvetenskaper | Medicinsk bioteknologi | Medical Biotechnology (with a focus on Cell Biology (including Stem Cell Biology), Molecular Biology, Microbiology, Biochemistry or Biopharmacy) | Medicinsk bioteknologi (med inriktning mot cellbiologi (inklusive stamcellsbiologi), molekylärbiologi, mikrobiologi, biokemi eller biofarmaci)
Journal Article
Applied Biochemistry and Biotechnology, ISSN 0273-2289, 7/2019, Volume 188, Issue 3, pp. 868 - 877
Journal Article
Journal of Bone and Mineral Research, ISSN 0884-0431, 04/2018, Volume 33, Issue 4, pp. 753 - 760
Journal Article
STEM CELLS Translational Medicine, ISSN 2157-6564, 02/2014, Volume 3, Issue 2, pp. 255 - 264
Journal Article
Journal Article
Archives of Disease in Childhood, ISSN 0003-9888, 04/2007, Volume 92, Issue 4, pp. 332 - 338
Objective: Children with the severe forms of osteogenesis imperfecta have in several studies been treated with intravenous pamidronate, but there are only few... 
BISPHOSPHONATE | THERAPY | SPONDYLOLISTHESIS | SPONDYLOLYSIS | ADOLESCENTS | ABSORPTIOMETRY | PEDIATRICS | BONE | OSTEOPETROSIS | CHILDHOOD | CHILDREN | Motor Skills - drug effects | Body Weight | Prospective Studies | Lumbar Vertebrae - diagnostic imaging | Humans | Osteogenesis Imperfecta - complications | Osteogenesis Imperfecta - drug therapy | Bone Density Conservation Agents - therapeutic use | Child, Preschool | Infant | Male | Osteogenesis Imperfecta - diagnostic imaging | Absorptiometry, Photon | Scoliosis - etiology | Walking | Bone Density - drug effects | Scoliosis - prevention & control | Diphosphonates - therapeutic use | Osteogenesis Imperfecta - physiopathology | Body Height | Female | Infusions, Intravenous | Child | Lumbar Vertebrae - physiopathology | Osteogenesis imperfecta | Care and treatment | Dosage and administration | Disodium pamidronate | Original | Child; Preschool | Medical and Health Sciences | Medicin och hälsovetenskap | Scoliosis/etiology/prevention & control | Lumbar Vertebrae/physiopathology/radiography | Bone Density Conservation Agents/therapeutic use | MEDICINE | Absorptiometry; Photon | Diphosphonates/therapeutic use | Osteogenesis Imperfecta/complications/drug therapy/physiopathology/radiography | MEDICIN | Bone Density/drug effects | Infusions; Intravenous | Motor Skills/drug effects
Journal Article
European Journal of Nutrition, ISSN 1436-6207, 8/2019, Volume 58, Issue 5, pp. 2051 - 2065
Journal Article
Journal of Chromatography B, ISSN 1570-0232, 02/2012, Volume 885-886, pp. 66 - 72
Journal Article
PLoS ONE, ISSN 1932-6203, 05/2017, Volume 12, Issue 5, p. e0176466
Osteogenesis imperfecta (OI) is a heterogeneous group of disorders of connective tissue, caused mainly by mutations in the collagen I genes (COL1A1 and... 
SWEDISH POPULATION | GENOTYPE-PHENOTYPE CORRELATIONS | HELICAL DOMAIN | COLLAGEN STRUCTURAL GENES | MULTIDISCIPLINARY SCIENCES | TEETH | PAMIDRONATE THERAPY | I COLLAGEN | BONE MASS | 2ND MOLAR | EXPRESSION | Tooth Abnormalities - genetics | Humans | Osteogenesis Imperfecta - complications | Child, Preschool | Osteogenesis Imperfecta - genetics | Dentinogenesis Imperfecta - etiology | Genotype | Infant | Male | Mutation - genetics | Mutation, Missense - genetics | Young Adult | Phenotype | Collagen Type I - genetics | Adolescent | Adult | Female | Retrospective Studies | Child | Dental Pulp Cavity - abnormalities | Dentinogenesis Imperfecta - genetics | Osteogenesis imperfecta | Genetic aspects | Research | Gene mutations | Analysis | Risk factors | Therapy | Jaw | Collagen (type I) | Discoloration | Disorders | Chains (polymeric) | Males | Bisphosphonates | Connective tissues | Genotype & phenotype | Coding | Etiology | Surgery | Biocompatibility | Genetics | Bone density | Diagnosis | Deoxyribonucleic acid--DNA | Chambers | Base pairs | Committees | Teeth | Amino acid sequence | Gene expression | Metabolism | Children & youth | Neurology | Bone mass | Mutation | Aberration | Protocol (computers) | Dental pulp | Dentin | Adolescence | Exons | Genes | Medical services | mRNA | Retention | Defects | Heterogeneity | Clonal deletion | Down's syndrome | Constrictions | Children | Adolescents | Age | Dentistry | Cervix | Pamidronic acid | Mineral metabolism | Medicine | Craniofacial growth | Collagen | Skull | Bone | Females | Medical and Health Sciences | Medicin och hälsovetenskap | Deoxyribonucleic acid | DNA
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