Items where authors include "Mighell, AJ"

Article

Moore, RJ orcid.org/0000-0003-2943-8025, Pretty, I, Douglas, GVA et al. (1 more author) (2023) Review of 1.75 million referrals over 34 months identifies the disruptive impact of the SARS-CoV-2 pandemic on oral surgery care in England: a service evaluation. British Dental Journal. ISSN 0007-0610

Moore, RJ orcid.org/0000-0003-2943-8025, Pretty, I, Douglas, G orcid.org/0000-0002-0531-3909 et al. (1 more author) (2022) An evaluation of referrer factors for 98,671 referrals made to the West Yorkshire oral surgery managed clinical network over a three-year period. British Dental Journal. ISSN 0007-0610

Nikolopoulos, G orcid.org/0000-0003-3166-8372, Smith, CEL orcid.org/0000-0001-8320-5105, Poulter, JA orcid.org/0000-0003-2048-5693 et al. (10 more authors) (2021) Spectrum of pathogenic variants and founder effects in amelogenesis imperfecta associated with MMP20. Human Mutation, 42 (5). pp. 567-576. ISSN 1059-7794

Sato, K, Mogi, C, Mighell, AJ orcid.org/0000-0002-9624-6923 et al. (1 more author) (2020) A missense mutation of Leu74Pro of OGR1 found in familial amelogenesis imperfecta actually causes the loss of the pH-sensing mechanism. Biochemical and Biophysical Research Communications, 526 (4). pp. 920-926. ISSN 0006-291X

Nikolopoulos, G orcid.org/0000-0003-3166-8372, Smith, CEL orcid.org/0000-0001-8320-5105, Brookes, SJ et al. (7 more authors) (2020) New missense variants in RELT causing hypomineralised amelogenesis imperfecta. Clinical Genetics, 97 (5). pp. 688-695. ISSN 0009-9163

Smith, CEL orcid.org/0000-0001-8320-5105, Poulter, JA orcid.org/0000-0003-2048-5693, Brookes, SJ orcid.org/0000-0002-9097-7311 et al. (8 more authors) (2019) Phenotype and variant spectrum in the LAMB3 form of amelogenesis imperfecta. Journal of Dental Research, 98 (6). pp. 698-704. ISSN 0022-0345

Whitehouse, LLE, Smith, CEL orcid.org/0000-0001-8320-5105, Poulter, JA orcid.org/0000-0003-2048-5693 et al. (10 more authors) (2019) Novel DLX3 variants in amelogenesis imperfecta with attenuated tricho‐dento‐osseous syndrome. Oral Diseases, 25 (1). pp. 182-191. ISSN 1354-523X

McDowall, F, Kenny, K orcid.org/0000-0001-9076-5856, Mighell, AJ orcid.org/0000-0002-9624-6923 et al. (1 more author) (2018) Genetic testing for amelogenesis imperfecta: knowledge and attitudes of paediatric dentists. British Dental Journal, 225 (4). pp. 335-339. ISSN 0007-0610

Atkin, PA, Thomas, S, Cook, RJ et al. (9 more authors) (2018) Human Disease/Clinical Medical Sciences in Dentistry: Current state and future directions of undergraduate teaching in the UK and Ireland. European Journal of Dental Education, 22 (3). e588-e593. ISSN 1396-5883

Montgomery-Cranny, J, Edmondson, M, Reid, J et al. (3 more authors) (2017) Development of a managed clinical network in oral medicine. British Dental Journal, 223 (9). pp. 719-725. ISSN 0007-0610

Smith, CEL orcid.org/0000-0001-8320-5105, Whitehouse, LLE, Poulter, JA orcid.org/0000-0003-2048-5693 et al. (6 more authors) (2017) Defects in the acid phosphatase ACPT cause recessive hypoplastic amelogenesis imperfecta. European Journal of Human Genetics, 25 (8). pp. 1015-1019. ISSN 1018-4813

Smith, CEL orcid.org/0000-0001-8320-5105, Poulter, JA orcid.org/0000-0003-2048-5693, Antanaviciute, A et al. (4 more authors) (2017) Amelogenesis Imperfecta; Genes, Proteins And Pathways. Frontiers in Physiology, 8. 435. ISSN 1664-042X

Smith, CEL orcid.org/0000-0001-8320-5105, Kirkham, J, Day, PF orcid.org/0000-0001-9711-9638 et al. (6 more authors) (2017) A Fourth KLK4 Mutation Is Associated with Enamel Hypomineralisation and Structural Abnormalities. Frontiers in Physiology, 8. 333. ISSN 1664-042X

Brookes, SJ orcid.org/0000-0002-9097-7311, Barron, MJ, Smith, CEL orcid.org/0000-0001-8320-5105 et al. (7 more authors) (2017) Amelogenesis Imperfecta caused by N-Terminal Enamelin Point Mutations in Mice and Men is driven by Endoplasmic Reticulum Stress. Human Molecular Genetics, 26 (10). pp. 1863-1876. ISSN 0964-6906

Smith, CEL orcid.org/0000-0001-8320-5105, Poulter, JA orcid.org/0000-0003-2048-5693, Levin, AV et al. (9 more authors) (2016) Spectrum of PEX1 and PEX6 variants in Heimler syndrome. European Journal of Human Genetics, 24 (11). pp. 1565-1571. ISSN 1018-4813

Parry, DA, Smith, CEL orcid.org/0000-0001-8320-5105, El-Sayed, W et al. (17 more authors) (2016) Mutations in the pH-Sensing G-protein-Coupled Receptor GPR68 Cause Amelogenesis Imperfecta. American Journal of Human Genetics, 99 (4). pp. 984-990. ISSN 0002-9297

Smith, CEL orcid.org/0000-0001-8320-5105, Murillo, G, Brookes, SJ orcid.org/0000-0002-9097-7311 et al. (5 more authors) (2016) Deletion of amelotin exons 3-6 is associated with amelogenesis imperfecta. Human Molecular Genetics, 25 (16). pp. 3578-3587. ISSN 0964-6906

Parry, DA, Holmes, TD, Gamper, N orcid.org/0000-0001-5806-0207 et al. (12 more authors) (2016) A homozygous STIM1 mutation impairs store-operated calcium entry and natural killer cell effector function without clinical immunodeficiency. Journal of Allergy and Clinical Immunology, 137 (3). pp. 955-957. ISSN 0091-6749

Poulter, JA, Smith, CEL, Murrillo, G et al. (9 more authors) (2015) A distinctive oral phenotype points to FAM20A mutations not identified by Sanger sequencing. Molecular Genetics & Genomic Medicine, 3 (6). pp. 543-549.

Ratbi, I, Falkenberg, KD, Sommen, M et al. (28 more authors) (2015) Heimler Syndrome is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6. American Journal of Human Genetics, 97 (4). pp. 535-545. ISSN 0002-9297

Cottom, H, Mighell, AJ, High, A et al. (1 more author) (2015) Are plasma cell-rich inflammatory conditions of the oral mucosa manifestations of IgG4-related disease? Journal of Clinical Pathology, 68 (10). pp. 802-807. ISSN 0021-9746

Acevedo, AC, Poulter, JA, Alves, PG et al. (10 more authors) (2015) Variability of systemic and oro-dental phenotype in two families with non-lethal Raine syndrome with FAM20C mutations. BMC Medical Genetics, 16. 8. 1 - 11. ISSN 1471-2350

Poulter, JA orcid.org/0000-0003-2048-5693, Murillo, G, Brookes, SJ orcid.org/0000-0002-9097-7311 et al. (6 more authors) (2014) Deletion of ameloblastin exon 6 is associated with amelogenesis imperfecta. Human Molecular Genetics, 23 (20). pp. 5317-5324. ISSN 0964-6906

De La Dure-Molla, M, Quentric, M, Yamaguti, PM et al. (6 more authors) (2014) Pathognomonic oral profile of Enamel Renal Syndrome (ERS) caused by recessive FAM20A mutations. Orphanet Journal of Rare Diseases, 9 (1). 84. ISSN 1750-1172

Poulter, JA, Brookes, SJ, Shore, RC et al. (5 more authors) (2014) A missense mutation in ITGB6 causes pitted hypomineralized amelogenesis imperfecta. Human Molecular Genetics, 23 (8). 2189 - 2197. ISSN 0964-6906

Poulter, JA, El-Sayed, W, Shore, RC et al. (3 more authors) (2013) Whole-exome sequencing, without prior linkage, identifies a mutation in LAMB3 as a cause of dominant hypoplastic amelogenesis imperfecta. European Journal of Human Genetics, 22. 132 - 135. ISSN 1018-4813

Parry, DA, Brookes, SJ, Logan, CV et al. (19 more authors) (2012) Mutations in C4orf26, encoding a peptide with in vitro hydroxyapatite crystal nucleation and growth activity, cause amelogenesis imperfecta. American Journal of Human Genetics, 91 (3). 565 - 571. ISSN 0002-9297