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Twelve novel HGD gene variants identified in 99 alkaptonuria patients: focus on 'black bone disease' in Italy.
Nemethova M, Radvanszky J, Kadasi L, Ascher DB, Pires DE, Blundell TL, Porfirio B, Mannoni A, Santucci A, Milucci L, Sestini S, Biolcati G, Sorge F, Aurizi C, Aquaron R, Alsbou M, Lourenço CM, Ramadevi K, Ranganath LR, Gallagher JA, van Kan C, Hall AK, Olsson B, Sireau N, Ayoob H, Timmis OG, Sang KH, Genovese F, Imrich R, Rovensky J, Srinivasaraghavan R, Bharadwaj SK, Spiegel R, Zatkova A. Nemethova M, et al. Among authors: zatkova a. Eur J Hum Genet. 2016 Jan;24(1):66-72. doi: 10.1038/ejhg.2015.60. Epub 2015 Mar 25. Eur J Hum Genet. 2016. PMID: 25804398 Free PMC article.
Homogentisate 1,2-dioxygenase (HGD) gene variants, their analysis and genotype-phenotype correlations in the largest cohort of patients with AKU.
Ascher DB, Spiga O, Sekelska M, Pires DEV, Bernini A, Tiezzi M, Kralovicova J, Borovska I, Soltysova A, Olsson B, Galderisi S, Cicaloni V, Ranganath L, Santucci A, Zatkova A. Ascher DB, et al. Among authors: zatkova a. Eur J Hum Genet. 2019 Jun;27(6):888-902. doi: 10.1038/s41431-019-0354-0. Epub 2019 Feb 8. Eur J Hum Genet. 2019. PMID: 30737480 Free PMC article. Clinical Trial.
Alkaptonuria: Current Perspectives.
Zatkova A, Ranganath L, Kadasi L. Zatkova A, et al. Appl Clin Genet. 2020 Jan 23;13:37-47. doi: 10.2147/TACG.S186773. eCollection 2020. Appl Clin Genet. 2020. PMID: 32158253 Free PMC article. Review.
Alkaptonuria in Russia.
Soltysova A, Kuzin A, Samarkina E, Zatkova A. Soltysova A, et al. Among authors: zatkova a. Eur J Hum Genet. 2022 Feb;30(2):237-242. doi: 10.1038/s41431-021-00955-1. Epub 2021 Sep 10. Eur J Hum Genet. 2022. PMID: 34504318 Free PMC article.
Alkaptonuria.
Bernardini G, Braconi D, Zatkova A, Sireau N, Kujawa MJ, Introne WJ, Spiga O, Geminiani M, Gallagher JA, Ranganath LR, Santucci A. Bernardini G, et al. Among authors: zatkova a. Nat Rev Dis Primers. 2024 Mar 7;10(1):16. doi: 10.1038/s41572-024-00498-x. Nat Rev Dis Primers. 2024. PMID: 38453957 Review.
40 results