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Page 1
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. Hany U, et al. J Med Genet. 2024 Mar 21;61(4):347-355. doi: 10.1136/jmg-2023-109510. J Med Genet. 2024. PMID: 37979963 Free PMC article.
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. Hany U, et al. J Dent Res. 2024 Jan;103(1):22-30. doi: 10.1177/00220345231203694. Epub 2023 Dec 6. J Dent Res. 2024. PMID: 38058155 Free PMC article.
Biallelic variants in Plexin B2 (PLXNB2) cause amelogenesis imperfecta, hearing loss and intellectual disability.
Smith CEL, Laugel-Haushalter V, Hany U, Best S, Taylor RL, Poulter JA, Wortmann SB, Feichtinger RG, Mayr JA, Al Bahlani S, Nikolopoulos G, Rigby A, Black GC, Watson CM, Mansour S, Inglehearn CF, Mighell AJ, Bloch-Zupan A; UK Inherited Retinal Disease Consortium, Genomics England Research Consortium. Smith CEL, et al. Among authors: hany u. J Med Genet. 2024 Jun 20;61(7):689-698. doi: 10.1136/jmg-2023-109728. J Med Genet. 2024. PMID: 38458752 Free PMC article.
Genetic data on 10 autosomal STR loci in the Bangladeshi population.
Ferdous A, Eunus Ali M, Alam S, Hossain T, Hany U, Dissing J, Akhteruzzaman S. Ferdous A, et al. Among authors: hany u. Leg Med (Tokyo). 2006 Oct;8(5):297-9. doi: 10.1016/j.legalmed.2006.05.005. Epub 2006 Sep 11. Leg Med (Tokyo). 2006. PMID: 16963306