about
Real-time PCR based on SYBR-Green I fluorescence: an alternative to the TaqMan assay for a relative quantification of gene rearrangements, gene amplifications and micro gene deletionsIdentification of microcephalin, a protein implicated in determining the size of the human brainMutations in CNNM4 cause Jalili syndrome, consisting of autosomal-recessive cone-rod dystrophy and amelogenesis imperfectaMutations in the beta propeller WDR72 cause autosomal-recessive hypomaturation amelogenesis imperfectaExpression of mOb1, a novel atypical 73 amino acid K50-homeodomain protein, during mouse developmentAmelogenesis imperfecta caused by N-terminal enamelin point mutations in mice and men is driven by endoplasmic reticulum stress.A Fourth KLK4 Mutation Is Associated with Enamel Hypomineralisation and Structural Abnormalities.Pathognomonic oral profile of Enamel Renal Syndrome (ERS) caused by recessive FAM20A mutationsDeletion of ameloblastin exon 6 is associated with amelogenesis imperfecta.Mutations in C4orf26, encoding a peptide with in vitro hydroxyapatite crystal nucleation and growth activity, cause amelogenesis imperfecta.Whole-exome sequencing, without prior linkage, identifies a mutation in LAMB3 as a cause of dominant hypoplastic amelogenesis imperfecta.Variability of systemic and oro-dental phenotype in two families with non-lethal Raine syndrome with FAM20C mutations.Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6Mutations in the pH-Sensing G-protein-Coupled Receptor GPR68 Cause Amelogenesis Imperfecta.Deletion of amelotin exons 3-6 is associated with amelogenesis imperfecta.A missense mutation in ITGB6 causes pitted hypomineralized amelogenesis imperfecta.A systematic review of medical interventions for oral submucous fibrosis and future research opportunities.Are plasma cell-rich inflammatory conditions of the oral mucosa manifestations of IgG4-related disease?Amelogenesis Imperfecta; Genes, Proteins, and Pathways.Phenotypic changes associated with DYNACTIN-2 (DCTN2) over expression characterise SJSA-1 osteosarcoma cells.Defects in the acid phosphatase ACPT cause recessive hypoplastic amelogenesis imperfectaSpectrum of PEX1 and PEX6 variants in Heimler syndrome.A distinctive oral phenotype points to FAM20A mutations not identified by Sanger sequencing.Alu sequences.A homozygous STIM1 mutation impairs store-operated calcium entry and natural killer cell effector function without clinical immunodeficiency.Development of a managed clinical network in oral medicine.Human Disease/Clinical Medical Sciences in Dentistry: Current state and future directions of undergraduate teaching in the UK and Ireland.The use of topical steroid preparations in oral medicine in the UK.Oral cancer - improving early detection and promoting prevention. Are you up to date?Human tenascin-C: identification of a novel type III repeat in oral cancer and of novel splice variants in normal, malignant and reactive oral mucosae.New missense variants in RELT causing hypomineralised amelogenesis imperfecta
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P50
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Alan J Mighell
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Alan J Mighell
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Alan J. Mighell
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Alan J. Mighell
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Alan J. Mighell
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Alan J Mighell
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P106
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1993-01-01T00:00:00Z
P21
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0000-0002-9624-6923