Vulliamy T - Search Results

1

Revertant somatic mosaicism by mitotic recombination in dyskeratosis congenita.

Jongmans MC, Verwiel ET, Heijdra Y, Vulliamy T, Kamping EJ, Hehir-Kwa JY, Bongers EM, Pfundt R, van Emst L, van Leeuwen FN, van Gassen KL, Geurts van Kessel A, Dokal I, Hoogerbrugge N, Ligtenberg MJ, Kuiper RP. Jongmans MC, et al. Among authors: vulliamy t. Am J Hum Genet. 2012 Mar 9;90(3):426-33. doi: 10.1016/j.ajhg.2012.01.004. Epub 2012 Feb 16. Am J Hum Genet. 2012. PMID: 22341970 Free PMC article.

2

Constitutional mutations in RTEL1 cause severe dyskeratosis congenita.

Walne AJ, Vulliamy T, Kirwan M, Plagnol V, Dokal I. Walne AJ, et al. Among authors: vulliamy t. Am J Hum Genet. 2013 Mar 7;92(3):448-53. doi: 10.1016/j.ajhg.2013.02.001. Epub 2013 Feb 28. Am J Hum Genet. 2013. PMID: 23453664 Free PMC article.

3

Dyskeratosis congenita: its link to telomerase and aplastic anaemia.

Dokal I, Vulliamy T. Dokal I, et al. Among authors: vulliamy t. Blood Rev. 2003 Dec;17(4):217-25. doi: 10.1016/s0268-960x(03)00020-1. Blood Rev. 2003. PMID: 14556776 Review.

4

Disease anticipation is associated with progressive telomere shortening in families with dyskeratosis congenita due to mutations in TERC.

Vulliamy T, Marrone A, Szydlo R, Walne A, Mason PJ, Dokal I. Vulliamy T, et al. Nat Genet. 2004 May;36(5):447-9. doi: 10.1038/ng1346. Epub 2004 Apr 18. Nat Genet. 2004. PMID: 15098033

5

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.

6

Genetic heterogeneity in autosomal recessive dyskeratosis congenita with one subtype due to mutations in the telomerase-associated protein NOP10.

Walne AJ, Vulliamy T, Marrone A, Beswick R, Kirwan M, Masunari Y, Al-Qurashi FH, Aljurf M, Dokal I. Walne AJ, et al. Among authors: vulliamy t. Hum Mol Genet. 2007 Jul 1;16(13):1619-29. doi: 10.1093/hmg/ddm111. Epub 2007 May 16. Hum Mol Genet. 2007. PMID: 17507419 Free PMC article.

7

Mutations in C16orf57 and normal-length telomeres unify a subset of patients with dyskeratosis congenita, poikiloderma with neutropenia and Rothmund-Thomson syndrome.

Walne AJ, Vulliamy T, Beswick R, Kirwan M, Dokal I. Walne AJ, et al. Among authors: vulliamy t. Hum Mol Genet. 2010 Nov 15;19(22):4453-61. doi: 10.1093/hmg/ddq371. Epub 2010 Sep 3. Hum Mol Genet. 2010. PMID: 20817924 Free PMC article.

8

Clinical utility gene card for: dyskeratosis congenita.

Dokal I, Vulliamy T, Mason P, Bessler M. Dokal I, et al. Among authors: vulliamy t. Eur J Hum Genet. 2011 Nov;19(11). doi: 10.1038/ejhg.2011.90. Epub 2011 May 25. Eur J Hum Genet. 2011. PMID: 21610750 Free PMC article. No abstract available.

9

Clinical utility gene card for: Dyskeratosis congenita - update 2015.

Dokal I, Vulliamy T, Mason P, Bessler M. Dokal I, et al. Among authors: vulliamy t. Eur J Hum Genet. 2015 Apr;23(4). doi: 10.1038/ejhg.2014.170. Epub 2014 Sep 3. Eur J Hum Genet. 2015. PMID: 25182133 Free PMC article. No abstract available.

10

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.

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