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Chemical Engineering Journal, ISSN 1385-8947, 02/2016, Volume 285, pp. 467 - 476
Journal Article
Journal Article
Clinical Endocrinology, ISSN 0300-0664, 07/2017, Volume 87, Issue 1, pp. 10 - 19
Journal Article
Calcified Tissue International, ISSN 0171-967X, 4/2019, Volume 104, Issue 4, pp. 364 - 372
Journal Article
PLoS ONE, ISSN 1932-6203, 08/2012, Volume 7, Issue 8, pp. e42180 - e42180
We describe a three-generation family with tall stature, scoliosis and macrodactyly of the great toes and a heterozygous p.Val883Met mutation in Npr2, the gene... 
ENDOCHONDRAL OSSIFICATION | OVEREXPRESSION | TRANSLOCATION | NPPC | PATHWAY | ROLES | MULTIDISCIPLINARY SCIENCES | MOUSE | CYCLASE-B RECEPTOR | DWARFISM | CARTILAGE | Limb Deformities, Congenital - enzymology | Chondrocytes - pathology | Limb Deformities, Congenital - genetics | Gene Expression | Growth Disorders - pathology | Receptors, Atrial Natriuretic Factor - metabolism | Humans | Male | Mice, Transgenic | Fingers - pathology | Mutation, Missense | Chondrocytes - enzymology | Animals | Cyclic GMP | Adolescent | Growth Disorders - enzymology | HEK293 Cells | Receptors, Atrial Natriuretic Factor - genetics | Mice | Fingers - abnormalities | Growth Disorders - genetics | Amino Acid Substitution | DNA, Complementary | Limb Deformities, Congenital - pathology | Scoliosis | Genes | Therapeutics | Genetic aspects | Comparative analysis | Cyclic guanylic acid | Natriuretic peptides | Homeopathy | Materia medica and therapeutics | Pediatrics | Peptides | Guanosine | Atrial natriuretic peptide | Kinases | Cartilage | Genotype & phenotype | Maternal & child health | Transgenic animals | Collagen (type XI) | Rodents | Fingers & toes | Bones | Height | Elongation | Age | University graduates | Phenotypes | Medical treatment | Transgenic mice | Gene expression | Patients | Medicine | Fractures | Orthopedics | Collagen | Chondrocytes | Mutation | Index Medicus
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 12/2018, Volume 176, Issue 12, pp. 2882 - 2886
Cole‐Carpenter syndrome is a rare skeletal dysplasia associated with low‐bone mass or an osteogenesis imperfecta (OI)‐like syndrome. Only 3 and 6 variants in... 
osteogenesis imperfecta | SEC24D | Cole‐carpenter syndrome | Cole-carpenter syndrome | COPII | REDUCTION | GENETICS & HEREDITY | OSTEOGENESIS-IMPERFECTA | BASILAR INVAGINATION | MUTATIONS | Hypoplasia | Dysplasia | Bone mass | Bone dysplasia | Osteogenesis imperfecta | Skeleton | Bone mineral density | Osteogenesis
Journal Article
Journal of Bone and Mineral Metabolism, ISSN 0914-8779, 5/2019, Volume 37, Issue 3, pp. 545 - 553
Journal Article
Materials Science & Engineering B, ISSN 0921-5107, 05/2014, Volume 184, Issue 1, pp. 7 - 13
Journal Article
PLoS ONE, ISSN 1932-6203, 07/2015, Volume 10, Issue 7, pp. e0131157 - e0131157
Context Hereditary 1,25-dihydroxyvitamin D-resistant rickets (HVDRR) is an autosomal recessive disease caused by biallelic mutations in the vitamin D receptor... 
ABLATED MICE | GENE | MULTIDISCIPLINARY SCIENCES | D-DEFICIENCY | VITAMIN-D-RECEPTOR | INTESTINAL CALCIUM-ABSORPTION | MECHANISMS | MUTATIONS | ASSOCIATION | MINERAL ION HOMEOSTASIS | 3 KINDREDS | Administration, Oral | Humans | Rickets, Hypophosphatemic - diagnosis | Calcium - administration & dosage | Child, Preschool | Rickets, Hypophosphatemic - genetics | Homozygote | Hydroxycholecalciferols - administration & dosage | Uniparental Disomy - genetics | Alopecia - genetics | Alleles | Body Height | Female | Heterozygote | Vitamin D - analogs & derivatives | Vitamin D - metabolism | Polymorphism, Single Nucleotide | Chromosomes, Human, Pair 12 | Mutation | Genome, Human | Growth Disorders - genetics | Dietary Supplements | Rickets | Vitamin D | Analysis | Genomics | Calcifediol | Genetic aspects | Genomes | Alfacalcidol | Single nucleotide polymorphisms | Health aspects | Pediatrics | Calcium | Nonsense mutation | Parents | Homeostasis | Single-nucleotide polymorphism | Gene deletion | Genetic screening | Gene sequencing | Clonal deletion | Deletion | Chromosome 12 | Genetics | Drug dosages | Chromosomes | Age | Deoxyribonucleic acid--DNA | University graduates | 25-Hydroxyvitamin D | Baldness | Discordance | Underpotential deposition | Dihydroxyvitamin D | Patients | Medicine | Uniparental disomy | Alopecia | Ligands | Consanguinity | Vitamin D receptors | Endocrinology | Polymorphism | Index Medicus | Deoxyribonucleic acid | DNA
Journal Article
Journal Article
Journal Article
Journal of Bone and Mineral Metabolism, ISSN 0914-8779, 08/2019, pp. 1 - 8
Osteogenesis imperfecta (OI) is a connective tissue disease with bone fragility. Several studies have indicated that physical function in adult OI was... 
Osteogenesis imperfecta | Fractures | Family medical history | Connective tissue diseases | Osteogenesis | Quality of life | Index Medicus
Journal Article