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European Journal of Oral Sciences, ISSN 0909-8836, 02/2017, Volume 125, Issue 1, pp. 8 - 17
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 10/2015, Volume 53, Issue 2, pp. 98 - 110
Journal Article
Frontiers in Genetics, ISSN 1664-8021, 2019, Volume 10, Issue MAY, p. 504
Amelogenesis imperfecta (AI) is a heterogeneous group of rare inherited diseases presenting with enamel defects. More than 30 genes have been reported to be... 
Human | Rare diseases | NGS (next generation sequencing) | Skeletal dysplasia | Amelogenesis imperfecta | rare diseases | human | skeletal dysplasia | amelogenesis imperfecta
Journal Article
FRONTIERS IN PHYSIOLOGY, ISSN 1664-042X, 09/2018, Volume 9, pp. 1329 - 1329
In this study, we report a unique dominantly inherited disorganized supernumerary cusp and single root phenotype presented by 11 affected individuals belonging... 
PERIODIC PARALYSIS | calcium ion channel | PHYSIOLOGY | rare disease | MAMMALIAN TEETH | patterning | SIGNALING CENTER | dental anomalies | ENAMEL KNOT | MORPHOGENETIC PROTEIN-2 GENE | mutations | LOBODONTIA | MOUSE TOOTH | NGS | human | EXPRESSION | GENOME-WIDE ASSOCIATION | Usage | Gene mutations | Amino acids | Nucleotide sequencing | Research | Chemical properties | DNA sequencing
Journal Article
PLoS ONE, ISSN 1932-6203, 01/2014, Volume 9, Issue 1, pp. e84343 - e84343
Background: The RSK2 gene is responsible for Coffin-Lowry syndrome, an X-linked dominant genetic disorder causing mental retardation, skeletal growth delays,... 
MORPHOGENESIS | IN-VITRO | RETINOIC ACID | TOOTH DEVELOPMENT | COFFIN-LOWRY-SYNDROME | MULTIDISCIPLINARY SCIENCES | MOUSE MOLAR | RIBOSOMAL S6 KINASE | KAPPA-B-ALPHA | SPROUTY GENES | TABBY/EDA MICE | Abnormalities, Multiple - pathology | RNA, Small Interfering - genetics | Ribosomal Protein S6 Kinases, 90-kDa - deficiency | Male | Tooth - growth & development | Gene Expression Profiling | Head - growth & development | Craniofacial Abnormalities - physiopathology | Tooth - anatomy & histology | Abnormalities, Multiple - physiopathology | Gene Knockdown Techniques | MAP Kinase Signaling System | Odontogenesis | Phenotype | Ribosomal Protein S6 Kinases, 90-kDa - metabolism | Animals | Craniofacial Abnormalities - enzymology | Gene Expression Regulation, Developmental | Ribosomal Protein S6 Kinases, 90-kDa - genetics | Abnormalities, Multiple - enzymology | Craniofacial Abnormalities - pathology | Mice | Enzyme Activation | Mental illness | Genetic aspects | DNA microarrays | Bioengineering | Pattern formation | Nuclear medicine | Phosphorylation | Transcription factors | Transcription | Mesenchyme | Genes | Molars | Kinases | Coffin-Lowry syndrome | Maxilla | Defects | Morphogenesis | Proteins | Biomedical materials | Etiology | Cell cycle | Deoxyribonucleic acid--DNA | Mandible | Medical imaging | Abnormalities | Teeth | Craniofacial syndromes | Biophysics | Dentistry | Gene expression | Neural crest | Mutants | Hereditary diseases | Ribosomal protein S6 kinase | Craniofacial growth | Cellular biology | Anomalies | Index Medicus | Deoxyribonucleic acid | DNA
Journal Article
Methods in Molecular Biology, ISSN 1064-3745, 2019, Volume 1922, pp. 407 - 452
Rare genetic disorders are often challenging to diagnose. Anomalies of tooth number, shape, size, mineralized tissue structure, eruption, and resorption may... 
Rare diseases | Dental anomalies | Genetic variations | High-throughput sequencing | NextSeq 550 | Liquid capture | Syndromes | Genetics | Gene panel | Mendelian disorders | Probe enrichment | Index Medicus
Journal Article
Journal Article
Journal Article
Molecular Syndromology, ISSN 1661-8769, 12/2014, Volume 5, Issue 6, pp. 293 - 298
Kohlschütter-Tönz Syndrome (KTZS) is an autosomal recessive disorder caused by mutations in the ROGDI gene. This syndrome is characterized by epilepsy,... 
Short Report | Mutations | Amelogenesis imperfecta | Leucine zipper domain | Epilepsy | Kohlschütter-Tönz syndrome | ROGDI
Journal Article
Frontiers in Physiology, ISSN 1664-042X, 2017, Volume 7, pp. 673 - 673
Abnormalities of enamel matrix proteins deposition, mineralization, or degradation during tooth development are responsible for a spectrum of either genetic... 
Retinoids | Tooth | RNA-seq | Enamelin | Mouse models | Enamel | mouse models | PHYSIOLOGY | VITAMIN-A-DEFICIENCY | MOUSE | REGULATING TOOTH DEVELOPMENT | LETHAL DEFECT | enamel | FACTOR-BINDING SITES | IN-VITRO | MESSENGER-RNA | GENE | enamelin | MICE | EXPRESSION | retinoids | tooth | Complications and side effects | Usage | Abnormalities | Teeth | Genetic aspects | Amelogenesis imperfecta | Risk factors | Tretinoin
Journal Article
Human Molecular Genetics, ISSN 0964-6906, 12/2014, Volume 24, Issue 11, pp. 3038 - 3049
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 02/2016, Volume 53, Issue 2, p. 98
This appears to be the first report of the isolation of a penicillinase-producing strain of Neisseria gonorrhoeae in the Netherlands. The presence of a... 
Journal Article