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PLoS Genetics, ISSN 1553-7390, 05/2016, Volume 12, Issue 5, pp. e1006037 - e1006037
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 04/2015, Volume 96, Issue 4, pp. 623 - 630
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 8/2012, Volume 109, Issue 35, pp. 14092 - 14097
The Wnt antagonist Sost has emerged as a key regulator of bone homeostasis through the modulation of Lrp4/5/6 Wnt coreceptors. In humans, lack of Sclerostin... 
Phenotypes | Femur | Bone formation | Chondrocytes | Bones | Osteocytes | Mice | Bone diseases | Osteoblasts | Modulated signal processing | DENSITY | SCLEROSTIN | LRP5 GENE | MEF2C | MULTIDISCIPLINARY SCIENCES | ESCHERICHIA-COLI | RECEPTOR ACTIVATOR | CRE RECOMBINASE | osteocytes | EXPRESSION | VAN-BUCHEM-DISEASE | TRANSGENIC MICE | Hyperostosis - metabolism | Transcriptional Activation - genetics | Age Factors | Glycoproteins - metabolism | Male | Osteochondrodysplasias | Gene Deletion | Osteosclerosis - metabolism | Skull - abnormalities | Female | Osteosclerosis - genetics | Craniofacial Abnormalities - metabolism | Craniofacial Abnormalities - genetics | MEF2 Transcription Factors | Glycoproteins - genetics | Mandible - abnormalities | Hyperostosis - genetics | Skull - metabolism | Myogenic Regulatory Factors - genetics | Syndactyly - metabolism | Myogenic Regulatory Factors - metabolism | Mice, Transgenic | Signal Transduction - genetics | Osteocytes - physiology | Femur - physiology | Animals | Enhancer Elements, Genetic - genetics | Femur - cytology | Bone Remodeling - genetics | Lac Operon | Mandible - metabolism | Syndactyly - genetics | Antagonists (Biochemistry) | Physiological aspects | Homeostasis | Genetic aspects | Research | Health aspects | Signal transduction | Mutation | Rodents | Cells | Index Medicus | Biological Sciences
Journal Article
Journal of Bone and Mineral Research, ISSN 0884-0431, 04/2017, Volume 32, Issue 4, pp. 757 - 769
In 1985, we briefly characterized “congenital sclerosing osteomalacia with cerebral calcification” (CSOCC) in infant sisters. Later, Raine syndrome (RNS)... 
CRANIOFACIAL DYSOSTOSIS | OSTEOMALACIA | RICKETS | DENTIN MATRIX PROTEIN | KINASE | PHOSPHOPROTEOME | CROUZON SYNDROME | CRANIOSYNOSTOSIS | HYPOPHOSPHATEMIA | SIBLING PROTEINS | OSTEOPONTIN | METOPIC SUTURE | MINERALIZATION | OSTEOSCLEROSIS | OSTEOPETROSIS | TRIGONOCEPHALY | AUTOSOMAL RECESSIVE SYNDROME | INTRACRANIAL CALCIFICATION | HYPOPLASTIC NOSE | SECRETED PROTEINS | ENDOCRINOLOGY & METABOLISM | OSTEOSCLEROTIC BONE DYSPLASIA | ANHYDRASE-II DEFICIENCY | CASEIN KINASE | RENAL TUBULAR-ACIDOSIS | Abnormalities, Multiple - metabolism | Calcinosis - genetics | Microcephaly - genetics | Cerebrum - diagnostic imaging | Casein Kinase I - genetics | Osteomalacia - diagnostic imaging | Humans | Calcinosis - diagnostic imaging | Male | Cleft Palate - genetics | Exophthalmos - genetics | Osteosclerosis - metabolism | Adult | Cerebrum - metabolism | Female | Osteomalacia - metabolism | Osteosclerosis - genetics | Calcinosis - metabolism | Cleft Palate - diagnostic imaging | Cerebrum - pathology | Osteosclerosis - diagnostic imaging | Abnormalities, Multiple - genetics | Extracellular Matrix Proteins - metabolism | Infant, Newborn | Extracellular Matrix Proteins - genetics | Microcephaly - metabolism | Abnormalities, Multiple - diagnostic imaging | Exophthalmos - diagnostic imaging | Microcephaly - diagnostic imaging | Osteomalacia - genetics | Exophthalmos - metabolism | Casein Kinase I - metabolism | Cleft Palate - metabolism | Medical research | Dysplasia | Genetic disorders | Calcification | Medicine, Experimental | Genetics | Genetic aspects | Histochemistry | Index Medicus
Journal Article
European Journal of Medical Genetics, ISSN 1769-7212, 2016, Volume 59, Issue 11, pp. 577 - 583
Abstract Raine syndrome is a rare autosomal recessive bone dysplasia characterized by characteristic facial features with exophthalmos and generalized... 
Medical Education | Raine syndrome | FAM20C gene | Kohlschutter-Tonz syndrome | OSTEOSCLEROTIC BONE DYSPLASIA | DENTINOGENESIS | GENETICS & HEREDITY | FAM20C | MUTATIONS | AMELOGENESIS | Cleft Palate - diagnosis | Microcephaly - genetics | Seizures - genetics | Bone Diseases, Developmental - mortality | Casein Kinase I - genetics | Humans | Dementia - diagnosis | Dementia - physiopathology | Learning Disorders - physiopathology | Male | Cleft Palate - genetics | Epilepsy - mortality | Microcephaly - mortality | Abnormalities, Multiple - mortality | Amelogenesis Imperfecta - genetics | Bone Diseases, Developmental - genetics | Epilepsy - physiopathology | Exophthalmos - mortality | Dementia - genetics | Bone Diseases, Developmental - physiopathology | Osteosclerosis - mortality | Seizures - physiopathology | Amelogenesis Imperfecta - diagnosis | Exophthalmos - genetics | Amelogenesis Imperfecta - mortality | Epilepsy - genetics | Female | Microcephaly - physiopathology | Osteosclerosis - genetics | Abnormalities, Multiple - genetics | Diagnosis, Differential | Cleft Palate - mortality | Osteosclerosis - diagnosis | Amelogenesis Imperfecta - physiopathology | Extracellular Matrix Proteins - genetics | Microcephaly - diagnosis | Exophthalmos - physiopathology | Cleft Palate - physiopathology | Abnormalities, Multiple - physiopathology | Exophthalmos - diagnosis | Dementia - mortality | Epilepsy - diagnosis | Phenotype | Abnormalities, Multiple - diagnosis | Adolescent | Learning Disorders - genetics | Osteosclerosis - physiopathology | Biodegradation | Dysplasia | Learning disabilities | Diagnosis | Seizures (Medicine) | Casein | Index Medicus
Journal Article
Journal Article
Journal Article
Journal Article
BMC Medical Genetics, ISSN 1471-2350, 12/2015, Volume 16, Issue 1, pp. 8 - 8
Journal Article
Journal of Bone and Mineral Research, ISSN 0884-0431, 06/2013, Volume 28, Issue 6, pp. 1378 - 1385
Journal Article