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BDJ open, ISSN 2056-807X, 2019, Volume 5, Issue 1, pp. 4 - 5
The maxillofacial and dental manifestations of Osteogenesis imperfecta (OI) have significant implications in terms of management. Although the occurrence of... 
Radiography | Phenotypes | Dentinogenesis | Maxillofacial | Teeth | Osteogenesis imperfecta | Dentinogenesis imperfecta | Mutation | Diagnosis | Saliva | Osteogenesis | Genotypes
Journal Article
by Liang, T and Zhang, H and Xu, Q and Wang, S and Qin, C and Lu, Y
Journal of Dental Research, ISSN 0022-0345, 7/2019, Volume 98, Issue 8, pp. 912 - 919
Dentin sialophosphoprotein (DSPP) is an extracellular matrix protein highly expressed by odontoblasts in teeth. DSPP mutations in humans may cause... 
tooth development | mineralized tissue/development | odontoblast(s) | genetics | odontogenesis | extracellular matrix | CELLS | development | DEFECTS | SEQUENCE DETERMINATION | DSPP | RESCUE | PRODUCTS | SIALOPROTEIN | DENTISTRY, ORAL SURGERY & MEDICINE | mineralized tissue | MINERALIZATION | PHOSPHOPROTEIN | EXPRESSION
Journal Article
Journal Article
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
EUROPEAN JOURNAL OF HUMAN GENETICS, ISSN 1018-4813, 07/2019, Volume 27, Issue 7, pp. 1090 - 1100
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
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 12/2018, Volume 176, Issue 12, pp. 2919 - 2923
Journal Article
Journal of Bone and Mineral Research, ISSN 0884-0431, 2011, Volume 26, Issue 4, pp. 873 - 880
We describe results from a mutational analysis of the region of the dentin sialophosphoprotein (DSPP) gene encoding dentin phosphoprotein (DPP) in 12 families... 
DENTINOGENESIS IMPERFECTA | DENTIN DYSPLASIA | DENTIN | MUTATION | DSPP | Dentin | dentinogenesis imperfecta | mutation | dentin dysplasia | DEFECTS | DYSPLASIA | CLASSIFICATION | DISORDERS | DSPP GENE | SIALOPROTEIN | MINERALIZATION | ENDOCRINOLOGY & METABOLISM | SIALOPHOSPHOPROTEIN | IMPERFECTA TYPE-II | Sialoglycoproteins - genetics | Dentin Dysplasia - genetics | Tooth, Deciduous - abnormalities | Humans | Tooth Abnormalities - diagnostic imaging | Child, Preschool | Molecular Sequence Data | Amelogenesis Imperfecta - genetics | Dentinogenesis Imperfecta - diagnosis | Young Adult | Tooth, Deciduous - diagnostic imaging | Amelogenesis Imperfecta - diagnosis | Dentin Dysplasia - diagnosis | Amelogenesis Imperfecta - diagnostic imaging | Adult | Amelogenesis Imperfecta - pathology | Child | Frameshift Mutation - genetics | Dentin Dysplasia - diagnostic imaging | Dentinogenesis Imperfecta - pathology | Dentin Dysplasia - pathology | Tooth - diagnostic imaging | Amino Acid Sequence | Dentinogenesis Imperfecta - diagnostic imaging | Extracellular Matrix Proteins - genetics | Tooth, Deciduous - pathology | Exons - genetics | Phosphoproteins - genetics | Dental Pulp Calcification | Radiography | Phenotype | Pedigree | Adolescent | Tooth Abnormalities - pathology | Hydrophobic and Hydrophilic Interactions | Family | Heterozygote | Dentinogenesis Imperfecta - genetics | Tooth - pathology
Journal Article
Orphanet Journal of Rare Diseases, ISSN 1750-1172, 08/2018, Volume 13, Issue 1, pp. 145 - 7
Background: Dentinogenesis imperfecta (DGI) is a heritable disorder of dentin. Genetic analyses have found two subgroups in this disorder: DGI type I, a... 
Genetic disorder | Osteogenesis imperfecta | Connective tissue | Dentin sialophosphoprotein | Prevalence | Dentin dysplasia | MEDICINE, RESEARCH & EXPERIMENTAL | POPULATION | DIAGNOSIS | DEFECTS | DYSPLASIA | PULP | GENETICS & HEREDITY | Dentin | Care and treatment | Pedodontics | Abnormalities | Teeth | Genetic aspects | Research | Pediatric research | Health aspects | Statistics | Adolescence | Pediatrics | Enamel</