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Journal of Bone and Mineral Research, ISSN 0884-0431, 07/2018, Volume 33, Issue 7, pp. 1377 - 1378
Journal Article
Journal of Bone and Mineral Research, ISSN 0884-0431, 07/2018, Volume 33, Issue 7, pp. 1377 - 1378
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
Journal of Human Genetics, ISSN 1434-5161, 04/2017, Volume 62, Issue 4, pp. 503 - 506
Axial spondylometaphyseal dysplasia (axial SMD) is a unique form of SMD characterized by dysplasia of axial skeleton and retinal dystrophy. Recently, C21orf2... 
MAJEWSKI | GENE | POLYCYSTIC KIDNEY-DISEASE | GENETICS & HEREDITY | IDENTIFICATION | PRENATAL-DIAGNOSIS | FAMILY | Proteins - genetics | Osteochondrodysplasias - genetics | Genetic Association Studies | Pedigree | Humans | Male | Mutation | NIMA-Related Kinase 1 - genetics | Child
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
Journal of Bone and Mineral Research, ISSN 0884-0431, 08/2016, Volume 31, Issue 8, pp. 1577 - 1585
Journal Article
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 08/2018, Volume 176, Issue 8, pp. 1723 - 1734
As growth references for achondroplasia are limited to reports from United States, Japan, Argentina, and Australia, the aim of this study was to construct... 
achondroplasia | GAMLSS | weight | growth | head circumference | BMI | height | POPULATION | DYSPLASIA | PENALIZED LIKELIHOOD | CURVES | CHILDREN | OBESITY | TALL STATURE | MUTATION | GENETICS & HEREDITY | FGFR3 | AGE | Body mass index | Analysis | Achondroplasia | Head | Body height | Children | Physical growth
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 09/2018, Volume 176, Issue 9, pp. 1819 - 1829
The aims of this study was to construct references for sitting height, leg length, arm span, relative sitting height (sitting height/height), and foot length... 
leg length | sitting height | achondroplasia | foot length | GAMLSS | growth | body proportion | relative sitting height | arm span | CENTILE CURVES | DISORDERS | RECEPTOR | HYPOCHONDROPLASIA | CHILDHOOD | CHILDREN | TALL STATURE | GENETICS & HEREDITY | MUTATIONS | AGE | Achondroplasia | Arm | Leg | Feet
Journal Article
Journal of Bone and Mineral Research, ISSN 0884-0431, 04/2018, Volume 33, Issue 4, pp. 753 - 760
Journal Article
Human Mutation, ISSN 1059-7794, 10/2018, Volume 39, Issue 10, pp. 1456 - 1467
Journal Article