Research Publications

Research Publications

2024

Heterozygous COL17A1 variants are a frequent cause of amelogenesis imperfecta

Hany U, Watson CM, Liu L, Smith CEL, Harfoush A, Poulter JA, Nikolopoulos G, Balmer R, Brown CJ, Patel A, Simmonds J, Charlton R, Acosta de Camargo MG, Rodd HD, Jafri H, Antanaviciute A, Moffat M, Al-Jawad M, Inglehearn CF, Mighell AJ.

J Med Genet. 2024 Mar 21;61(4):347-355.

PMID: 37979963; PMCID: PMC10982616

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Establishment of a clinical network for children with amelogenesis imperfecta and dentinogenesis imperfecta in the UK: 4-year experience

Monteiro J, Balmer R, Lafferty F, Lyne A, Mighell A, O'Donnell K, Parekh S.

Eur Arch Paediatr Dent. 2024 Feb;25(1):85-91.

PMID: 38308725; PMCID: PMC10943134.

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Novel Ameloblastin Variants, Contrasting Amelogenesis Imperfecta Phenotypes

Hany U, Watson CM, Liu L, Nikolopoulos G, Smith CEL, Poulter JA, Brown CJ, Patel A, Rodd HD, Balmer R, Harfoush A, Al-Jawad M, Inglehearn CF, Mighell AJ.

J Dent Res. 2024 Jan;103(1):22-30.

PMID: 38058155; PMCID: PMC10734210.

2022

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Specialist and transitional care provision for amelogenesis imperfecta: a UK-wide survey

Lafferty F, Albadri S, Parekh S, Soldani F.

Br Dent J. 2022 Sep 28.

PMID: 36171269.

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Public and dental professionals' use of social media to discuss amelogenesis imperfecta.

Henrick V, Marks S, Balmer R, Barber S.

Int J Paediatr Dent. 2022 Nov;32(6):903-914.

PMID: 35771161; PMCID: PMC9796443.

2021

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The burden of dental care in Amelogenesis Imperfecta paediatric patients in the UK NHS: a retrospective, multi-centred analysis

Lafferty F, Al Siyabi H, Sinadinos A, Kenny K, Mighell AJ, Monteiro J, Soldani F, Parekh S, Balmer RC.

Eur Arch Paediatr Dent. 2021 Oct;22(5):929-936.

PMID: 34146252

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Patient-reported outcome measure for children and young people with amelogenesis imperfecta

Lyne A, Parekh S, Patel N, Lafferty F, Brown C, Rodd H, Monteiro J.

Br Dent J. 2021 Sep 6:1–6.

PMID: 34489543; PMCID: PMC8420961.

2018

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Genetic testing for amelogenesis imperfecta: knowledge and attitudes of paediatric dentists

McDowall F, Kenny K, Mighell AJ, Balmer RC.

Br Dent J. 2018 Aug 24;225(4):335-339.

PMID: 30141472

Amelogenesis Imperfecta