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Triallelic and epigenetic-like inheritance in human disorders of telomerase.
Collopy LC, Walne AJ, Cardoso S, de la Fuente J, Mohamed M, Toriello H, Tamary H, Ling AJ, Lloyd T, Kassam R, Tummala H, Vulliamy TJ, Dokal I. Collopy LC, et al. Among authors: vulliamy tj. Blood. 2015 Jul 9;126(2):176-84. doi: 10.1182/blood-2015-03-633388. Epub 2015 May 29. Blood. 2015. PMID: 26024875 Free PMC article.
Marked overlap of four genetic syndromes with dyskeratosis congenita confounds clinical diagnosis.
Walne AJ, Collopy L, Cardoso S, Ellison A, Plagnol V, Albayrak C, Albayrak D, Kilic SS, Patıroglu T, Akar H, Godfrey K, Carter T, Marafie M, Vora A, Sundin M, Vulliamy T, Tummala H, Dokal I. Walne AJ, et al. Among authors: vulliamy t. Haematologica. 2016 Oct;101(10):1180-1189. doi: 10.3324/haematol.2016.147769. Epub 2016 Sep 9. Haematologica. 2016. PMID: 27612988 Free PMC article.
Dyskeratosis congenita.
Vulliamy T, Dokal I. Vulliamy T, et al. Semin Hematol. 2006 Jul;43(3):157-66. doi: 10.1053/j.seminhematol.2006.04.001. Semin Hematol. 2006. PMID: 16822458 Review.
Germline thymidylate synthase deficiency impacts nucleotide metabolism and causes dyskeratosis congenita.
Tummala H, Walne A, Buccafusca R, Alnajar J, Szabo A, Robinson P, McConkie-Rosell A, Wilson M, Crowley S, Kinsler V, Ewins AM, Madapura PM, Patel M, Pontikos N, Codd V, Vulliamy T, Dokal I. Tummala H, et al. Among authors: vulliamy t. Am J Hum Genet. 2022 Aug 4;109(8):1472-1483. doi: 10.1016/j.ajhg.2022.06.014. Am J Hum Genet. 2022. PMID: 35931051 Free PMC article.
168 results