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British Journal of Dermatology, ISSN 0007-0963, 12/2015, Volume 173, Issue 6, pp. 1505 - 1513
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 02/2015, Volume 96, Issue 2, pp. 266 - 274
Singleton-Merten syndrome (SMS) is an autosomal-dominant multi-system disorder characterized by dental dysplasia, aortic calcification, skeletal abnormalities,... 
OPEN-ANGLE GLAUCOMA | ACTIVATION | RNA | GENE | GENETICS & HEREDITY | CALCIFICATION | SENSOR | SPECTRUM | IDENTIFICATION | GAIN | MDA5 | Odontodysplasia - pathology | Humans | Vascular Calcification - genetics | Child, Preschool | Molecular Sequence Data | Male | Metacarpus - abnormalities | Mutation, Missense - genetics | Base Sequence | Adult | Female | Osteoporosis - genetics | Odontodysplasia - diagnostic imaging | DEAD-box RNA Helicases - chemistry | Aortic Diseases - pathology | DEAD Box Protein 58 | Musculoskeletal Abnormalities - diagnostic imaging | Cells, Cultured | Models, Molecular | Muscular Diseases - pathology | Vascular Calcification - pathology | Sequence Analysis, DNA | Radiography | DEAD-box RNA Helicases - genetics | Aortic Diseases - genetics | Exome - genetics | Osteoporosis - pathology | Pedigree | Musculoskeletal Abnormalities - genetics | Metacarpus - pathology | Polymorphism, Single Nucleotide - genetics | Odontodysplasia - genetics | Muscular Diseases - genetics | Dental Enamel Hypoplasia - pathology | Glaucoma - genetics | Dental Enamel Hypoplasia - genetics | Genes, Dominant - genetics | Physiological aspects | Genetic research | Genetic disorders | Research | Gene mutations | Glaucoma | Psoriasis | RNA-protein interactions | ABC transporters | Mutation | Gene expression | Index Medicus | Report
Journal Article
eLife, ISSN 2050-084X, 07/2018, Volume 7
The innate immune sensor retinoic acid-inducible gene I (RIG-I) detects cytosolic viral RNA and requires a conformational change caused by both ATP and RNA... 
IMMUNITY | DOUBLE-STRANDED-RNA | IFIH1 MUTATION | VIRAL-RNA | STRUCTURAL BASIS | TOLERANCE | BIOLOGY | GENE-EXPRESSION | SIGNAL-ACTIVATION | SENSOR | MDA5 | Odontodysplasia - pathology | Muscular Diseases - enzymology | Humans | Vascular Calcification - genetics | Immunity, Innate - genetics | Metacarpus - abnormalities | RNA, Viral - genetics | Osteoporosis - enzymology | AAA Proteins - genetics | DEAD Box Protein 58 - genetics | Adenosine Triphosphate - metabolism | Osteoporosis - genetics | Vascular Calcification - enzymology | Aortic Diseases - enzymology | RNA, Double-Stranded - chemistry | Aortic Diseases - pathology | DEAD Box Protein 58 - chemistry | Odontodysplasia - enzymology | Metacarpus - enzymology | AAA Proteins - chemistry | Muscular Diseases - pathology | Dental Enamel Hypoplasia - enzymology | Vascular Calcification - pathology | Cytosol - virology | Hydrolysis | Aortic Diseases - genetics | RNA, Viral - chemistry | Osteoporosis - pathology | Metacarpus - pathology | RNA, Double-Stranded - genetics | Protein Binding | Adenosine Triphosphatases - chemistry | Protein Conformation | Adenosine Triphosphatases - genetics | Odontodysplasia - genetics | Muscular Diseases - genetics | Mutation | Adenosine Triphosphate - chemistry | Dental Enamel Hypoplasia - pathology | Dental Enamel Hypoplasia - genetics | RNA sequencing | Physiological aspects | Genetic disorders | Genetic variation | Health aspects | Methods | Index Medicus
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 02/2015, Volume 96, Issue 2, pp. 275 - 282
Journal Article
Journal Article
Journal of Dentistry for Children, ISSN 1551-8949, 05/2018, Volume 85, Issue 2, pp. 88 - 91
Regional odontodysplasia is a non-hereditary development dental anomaly involving epithelial and mesenchymal-derived dental tissues. The condition affects both... 
Oral pathology | Pediatric dentistry | Enamel hypoplasia | Child | Regional odontodysplasia | Facial Asymmetry - pathology | Denture, Partial, Removable | Odontodysplasia - diagnosis | Odontodysplasia - rehabilitation | Odontodysplasia - pathology | Humans | Child, Preschool | Male | Index Medicus | Dentistry
Journal Article
Journal Article
Journal of the New Jersey Dental Association, ISSN 0093-7347, 2014, Volume 85, Issue 1, pp. 16 - 20
Journal Article
American journal of medical genetics. Part A, ISSN 1552-4825, 2013, Volume 161A, Issue 2, pp. 360 - 370
In 1973, Singleton and Merten described two females with abnormal dentition, unique radiographic changes especially of the hands, and severe calcification and... 
acro‐osteolysis | Singleton–Merten syndrome | glaucoma | psoriasis | aortic calcification | dental abnormalities | autosomal dominant | short dental roots | Autosomal dominant | Glaucoma | Acro-osteolysis | Aortic calcification | Psoriasis | Dental abnormalities | Singleton-Merten syndrome | Short dental roots | ASCENDING AORTA | acro-osteolysis | VASCULAR CALCIFICATION | VALVE | IDIOPATHIC CALCIFICATION | GENETICS & HEREDITY | YOUNG WOMAN | Aortic Diseases - diagnostic imaging | Humans | Vascular Calcification - genetics | Aortic Diseases - mortality | Child, Preschool | Vascular Calcification - diagnostic imaging | Infant | Male | Metacarpus - abnormalities | Tooth Loss - genetics | Odontodysplasia - mortality | Psoriasis - genetics | Genes, Dominant | Skull - pathology | Osteoporosis - diagnostic imaging | Vascular Calcification - mortality | Adult | Female | Osteoporosis - genetics | Odontodysplasia - diagnostic imaging | Dental Enamel Hypoplasia - diagnostic imaging | Abnormalities, Multiple - genetics | Osteoporosis - mortality | Metacarpus - diagnostic imaging | Myocardium - pathology | Radiography | Aortic Diseases - genetics | Phenotype | Skull - diagnostic imaging | Dental Enamel Hypoplasia - mortality | Muscular Diseases - mortality | Odontodysplasia - genetics | Muscular Diseases - genetics | Dental Enamel Hypoplasia - genetics | Muscular Diseases - diagnostic imaging | Medical colleges | Valves | Children's hospitals | Index Medicus | Aorta
Journal Article
International Journal of Paleopathology, ISSN 1879-9817, 12/2012, Volume 2, Issue 4, pp. 170 - 180
► Analysis of 38 burials with evidence for leprosy and leprogenic odontodysplasia from the medieval leper hospital of St Mary Magdalen Winchester. ► Discusses... 
Leprosy | Amputated individual | Leprogenic odontodysplasia | Pilgrim burial | PALEONTOLOGY | PATHOLOGY
Journal Article