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PLoS Genetics, ISSN 1553-7390, 05/2016, Volume 12, Issue 5, pp. e1006037 - e1006037
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
BMC Medical Genetics, ISSN 1471-2350, 12/2015, Volume 16, Issue 1, pp. 8 - 8
Journal Article
Science, ISSN 0036-8075, 6/2012, Volume 336, Issue 6085, pp. 1150 - 1153
Protein phosphorylation is a fundamental mechanism regulating nearly every aspect of cellular life. Several secreted proteins are phosphorylated, but the... 
Proteins | T lymphocytes | Phosphorylation | Biomineralogy | Secretion | Phosphoproteins | REPORTS | Immunoblotting | Cellular immunity | Physiological regulation | Siblings | OSTEOPONTIN | INHIBITION | MULTIDISCIPLINARY SCIENCES | PHOSPHOPROTEOME | PURIFICATION | SEQUENCE | GOLGI-APPARATUS | SPECIFICITY DETERMINANTS | MASS-SPECTROMETRY | APPARATUS CASEIN KINASE | LACTATING MAMMARY-GLAND | Abnormalities, Multiple - metabolism | Golgi Apparatus - enzymology | Microcephaly - genetics | Humans | Secretory Pathway | Caseins - metabolism | Glycoproteins - metabolism | Molecular Sequence Data | Substrate Specificity | Cleft Palate - genetics | Casein Kinase I | Recombinant Fusion Proteins - metabolism | Extracellular Matrix Proteins - secretion | Cattle | Exophthalmos - genetics | HEK293 Cells | Osteosclerosis - metabolism | Osteosclerosis - genetics | Abnormalities, Multiple - genetics | Extracellular Matrix Proteins - metabolism | Amino Acid Sequence | Extracellular Matrix Proteins - chemistry | Milk - enzymology | Extracellular Matrix Proteins - genetics | Microcephaly - metabolism | Osteopontin | Recombinant Fusion Proteins - chemistry | Protein Sorting Signals | Amino Acid Motifs | Animals | Calcification, Physiologic | Casein Kinases - metabolism | Exophthalmos - metabolism | Cell Line, Tumor | Recombinant Fusion Proteins - secretion | Cleft Palate - metabolism | HeLa Cells | Mutation | Physiological aspects | Biomineralization | Extracellular matrix | Research | Phosphotransferases | Mineralogy | Cells | Index Medicus | Mutations | Casein | Genes | Bones | Kinases
Journal Article
Clinical Genetics, ISSN 0009-9163, 08/2011, Volume 80, Issue 2, pp. 177 - 183
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 12/2013, Volume 161, Issue 12, pp. 3155 - 3160
Journal Article
Journal of Medical Case Reports, ISSN 1752-1947, 01/2018, Volume 12, Issue 1, pp. 13 - 13
Primary bilateral macronodular adrenal hyperplasia is a rare cause of Cushing's syndrome characterized by the presence of bilateral secretory adrenal nodules.... 
Exophthalmos | Cushing's syndrome | ARMC5 | PBMAH | Gene mutations | Hyperplasia | Medical genetics | Causes of | Genetic aspects | Research | Index Medicus | Cushing’s syndrome
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 10/2015, Volume 167, Issue 10, pp. 2394 - 2398
We report on a case of Raine syndrome with a mutation in FAM20C and typical phenotypic features consisting of midface hypoplasia, hypoplastic nose, choanal... 
osteosclerosis | hypoplastic nose | intracranial calcification | Raine syndrome | exophthalmos | pachygyria | Osteosclerosis | Pachygyria | Exophthalmos | Hypoplastic nose | Intracranial calcification