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Items: 1 to 50 of 153

1.

Germline NPM1 mutations lead to altered rRNA 2'-O-methylation and cause dyskeratosis congenita.

Nachmani D, Bothmer AH, Grisendi S, Mele A, Bothmer D, Lee JD, Monteleone E, Cheng K, Zhang Y, Bester AC, Guzzetti A, Mitchell CA, Mendez LM, Pozdnyakova O, Sportoletti P, Martelli MP, Vulliamy TJ, Safra M, Schwartz S, Luzzatto L, Bluteau O, Soulier J, Darnell RB, Falini B, Dokal I, Ito K, Clohessy JG, Pandolfi PP.

Nat Genet. 2019 Sep 30. doi: 10.1038/s41588-019-0502-z. [Epub ahead of print]

PMID:
31570891
2.

Homozygous OB-fold variants in telomere protein TPP1 are associated with dyskeratosis congenita-like phenotypes.

Tummala H, Collopy LC, Walne AJ, Ellison A, Cardoso S, Aksu T, Yarali N, Aslan D, Fikret Akata R, Teo J, Songyang Z, Pontikos N, Fitzgibbon J, Tomita K, Vulliamy T, Dokal I.

Blood. 2018 Sep 20;132(12):1349-1353. doi: 10.1182/blood-2018-03-837799. Epub 2018 Jul 31. No abstract available.

3.

Genome instability is a consequence of transcription deficiency in patients with bone marrow failure harboring biallelic ERCC6L2 variants.

Tummala H, Dokal AD, Walne A, Ellison A, Cardoso S, Amirthasigamanipillai S, Kirwan M, Browne I, Sidhu JK, Rajeeve V, Rio-Machin A, Seraihi AA, Duncombe AS, Jenner M, Smith OP, Enright H, Norton A, Aksu T, Özbek NY, Pontikos N, Cutillas P, Dokal I, Vulliamy T.

Proc Natl Acad Sci U S A. 2018 Jul 24;115(30):7777-7782. doi: 10.1073/pnas.1803275115. Epub 2018 Jul 9.

4.

GATA2 monoallelic expression underlies reduced penetrance in inherited GATA2-mutated MDS/AML.

Al Seraihi AF, Rio-Machin A, Tawana K, Bödör C, Wang J, Nagano A, Heward JA, Iqbal S, Best S, Lea N, McLornan D, Kozyra EJ, Wlodarski MW, Niemeyer CM, Scott H, Hahn C, Ellison A, Tummala H, Cardoso SR, Vulliamy T, Dokal I, Butler T, Smith M, Cavenagh J, Fitzgibbon J.

Leukemia. 2018 Nov;32(11):2502-2507. doi: 10.1038/s41375-018-0134-9. Epub 2018 Apr 19. No abstract available.

5.

Expanding the phenotypic and genetic spectrum of radioulnar synostosis associated hematological disease.

Walne A, Tummala H, Ellison A, Cardoso S, Sidhu J, Sciuccati G, Vulliamy T, Dokal I.

Haematologica. 2018 Jul;103(7):e284-e287. doi: 10.3324/haematol.2017.183855. Epub 2018 Mar 8. No abstract available.

6.

Myelodysplasia and liver disease extend the spectrum of RTEL1 related telomeropathies.

Cardoso SR, Ellison ACM, Walne AJ, Cassiman D, Raghavan M, Kishore B, Ancliff P, Rodríguez-Vigil C, Dobbels B, Rio-Machin A, Al Seraihi AFH, Pontikos N, Tummala H, Vulliamy T, Dokal I.

Haematologica. 2017 Aug;102(8):e293-e296. doi: 10.3324/haematol.2017.167056. Epub 2017 May 11. No abstract available.

7.

Phenopolis: an open platform for harmonization and analysis of genetic and phenotypic data.

Pontikos N, Yu J, Moghul I, Withington L, Blanco-Kelly F, Vulliamy T, Wong TLE, Murphy C, Cipriani V, Fiorentino A, Arno G, Greene D, Jacobsen JOB, Clark T, Gregory DS, Nemeth AM, Halford S, Inglehearn CF, Downes S, Black GC, Webster AR, Hardcastle AJ; UKIRDC, Plagnol V.

Bioinformatics. 2017 Aug 1;33(15):2421-2423. doi: 10.1093/bioinformatics/btx147.

PMID:
28334266
8.

Urinary prostanoids in preschool wheeze.

Grigg J, Whitehouse A, Pandya H, Turner S, Griffiths CJ, Vulliamy T, T Walton R, Price DB, Sanak M, Holloway JW, Noimark L, Lesosky M, Brugha R, Koh L, Nwokoro C.

Eur Respir J. 2017 Feb 2;49(2). pii: 1601390. doi: 10.1183/13993003.01390-2016. Print 2017 Feb. No abstract available.

9.

The Human Phenotype Ontology in 2017.

Köhler S, Vasilevsky NA, Engelstad M, Foster E, McMurry J, Aymé S, Baynam G, Bello SM, Boerkoel CF, Boycott KM, Brudno M, Buske OJ, Chinnery PF, Cipriani V, Connell LE, Dawkins HJ, DeMare LE, Devereau AD, de Vries BB, Firth HV, Freson K, Greene D, Hamosh A, Helbig I, Hum C, Jähn JA, James R, Krause R, F Laulederkind SJ, Lochmüller H, Lyon GJ, Ogishima S, Olry A, Ouwehand WH, Pontikos N, Rath A, Schaefer F, Scott RH, Segal M, Sergouniotis PI, Sever R, Smith CL, Straub V, Thompson R, Turner C, Turro E, Veltman MW, Vulliamy T, Yu J, von Ziegenweidt J, Zankl A, Züchner S, Zemojtel T, Jacobsen JO, Groza T, Smedley D, Mungall CJ, Haendel M, Robinson PN.

Nucleic Acids Res. 2017 Jan 4;45(D1):D865-D876. doi: 10.1093/nar/gkw1039. Epub 2016 Nov 28. Review.

10.

Air pollution, ethnicity and telomere length in east London schoolchildren: An observational study.

Walton RT, Mudway IS, Dundas I, Marlin N, Koh LC, Aitlhadj L, Vulliamy T, Jamaludin JB, Wood HE, Barratt BM, Beevers S, Dajnak D, Sheikh A, Kelly FJ, Griffiths CJ, Grigg J.

Environ Int. 2016 Nov;96:41-47. doi: 10.1016/j.envint.2016.08.021. Epub 2016 Sep 1.

11.

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.

Haematologica. 2016 Oct;101(10):1180-1189. Epub 2016 Sep 9.

12.

DNAJC21 Mutations Link a Cancer-Prone Bone Marrow Failure Syndrome to Corruption in 60S Ribosome Subunit Maturation.

Tummala H, Walne AJ, Williams M, Bockett N, Collopy L, Cardoso S, Ellison A, Wynn R, Leblanc T, Fitzgibbon J, Kelsell DP, van Heel DA, Payne E, Plagnol V, Dokal I, Vulliamy T.

Am J Hum Genet. 2016 Jul 7;99(1):115-24. doi: 10.1016/j.ajhg.2016.05.002. Epub 2016 Jun 23.

13.

A ribosome-related signature in peripheral blood CLL B cells is linked to reduced survival following treatment.

Sbarrato T, Horvilleur E, Pöyry T, Hill K, Chaplin LC, Spriggs RV, Stoneley M, Wilson L, Jayne S, Vulliamy T, Beck D, Dokal I, Dyer MJ, Yeomans AM, Packham G, Bushell M, Wagner SD, Willis AE.

Cell Death Dis. 2016 Jun 2;7(6):e2249. doi: 10.1038/cddis.2016.148.

14.

Relative telomere lengths in tumor and normal mucosa are related to disease progression and chromosome instability profiles in colorectal cancer.

Suraweera N, Mouradov D, Li S, Jorissen RN, Hampson D, Ghosh A, Sengupta N, Thaha M, Ahmed S, Kirwan M, Aleva F, Propper D, Feakins RM, Vulliamy T, Elwood NJ, Tian P, Ward RL, Hawkins NJ, Xu ZZ, Molloy PL, Jones IT, Croxford M, Gibbs P, Silver A, Sieber OM.

Oncotarget. 2016 Jun 14;7(24):36474-36488. doi: 10.18632/oncotarget.9015.

15.

Germline heterozygous DDX41 variants in a subset of familial myelodysplasia and acute myeloid leukemia.

Cardoso SR, Ryan G, Walne AJ, Ellison A, Lowe R, Tummala H, Rio-Machin A, Collopy L, Al Seraihi A, Wallis Y, Page P, Akiki S, Fitzgibbon J, Vulliamy T, Dokal I.

Leukemia. 2016 Oct;30(10):2083-2086. doi: 10.1038/leu.2016.124. Epub 2016 Jun 2. No abstract available.

16.

Parent-determined oral montelukast therapy for preschool wheeze with stratification for arachidonate 5-lipoxygenase (ALOX5) promoter genotype: a multicentre, randomised, placebo-controlled trial.

Nwokoro C, Pandya H, Turner S, Eldridge S, Griffiths CJ, Vulliamy T, Price D, Sanak M, Holloway JW, Brugha R, Koh L, Dickson I, Rutterford C, Grigg J.

Southampton (UK): NIHR Journals Library; 2015 Nov.

17.

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.

Blood. 2015 Jul 9;126(2):176-84. doi: 10.1182/blood-2015-03-633388. Epub 2015 May 29.

18.

Poly(A)-specific ribonuclease deficiency impacts telomere biology and causes dyskeratosis congenita.

Tummala H, Walne A, Collopy L, Cardoso S, de la Fuente J, Lawson S, Powell J, Cooper N, Foster A, Mohammed S, Plagnol V, Vulliamy T, Dokal I.

J Clin Invest. 2015 May;125(5):2151-60. doi: 10.1172/JCI78963. Epub 2015 Apr 20.

19.

Intermittent montelukast in children aged 10 months to 5 years with wheeze (WAIT trial): a multicentre, randomised, placebo-controlled trial.

Nwokoro C, Pandya H, Turner S, Eldridge S, Griffiths CJ, Vulliamy T, Price D, Sanak M, Holloway JW, Brugha R, Koh L, Dickson I, Rutterford C, Grigg J.

Lancet Respir Med. 2014 Oct;2(10):796-803. doi: 10.1016/S2213-2600(14)70186-9. Epub 2014 Sep 8.

20.

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

Dokal I, Vulliamy T, Mason P, Bessler M.

Eur J Hum Genet. 2015 Apr;23(4). doi: 10.1038/ejhg.2014.170. Epub 2014 Sep 3. No abstract available.

21.

Targeted resequencing of 52 bone marrow failure genes in patients with aplastic anemia reveals an increased frequency of novel variants of unknown significance only in SLX4.

Collopy LC, Walne AJ, Vulliamy TJ, Dokal IS.

Haematologica. 2014 Jul;99(7):e109-11. doi: 10.3324/haematol.2014.105320. Epub 2014 Apr 24. No abstract available.

22.

Leucocyte telomere length in patients with sickle cell disease.

Drašar ER, Jiang J, Gardner K, Howard J, Vulliamy T, Vasavda N, Thein SL.

Br J Haematol. 2014 Jun;165(5):725-7. doi: 10.1111/bjh.12776. Epub 2014 Feb 14. No abstract available.

PMID:
24666270
23.

ERCC6L2 mutations link a distinct bone-marrow-failure syndrome to DNA repair and mitochondrial function.

Tummala H, Kirwan M, Walne AJ, Hossain U, Jackson N, Pondarre C, Plagnol V, Vulliamy T, Dokal I.

Am J Hum Genet. 2014 Feb 6;94(2):246-56. doi: 10.1016/j.ajhg.2014.01.007.

24.

Haematological recovery in dyskeratosis congenita patients treated with danazol.

Islam A, Rafiq S, Kirwan M, Walne A, Cavenagh J, Vulliamy T, Dokal I.

Br J Haematol. 2013 Sep;162(6):854-6. doi: 10.1111/bjh.12432. Epub 2013 Jun 19. No abstract available.

PMID:
23782100
25.

Constitutional mutations in RTEL1 cause severe dyskeratosis congenita.

Walne AJ, Vulliamy T, Kirwan M, Plagnol V, Dokal I.

Am J Hum Genet. 2013 Mar 7;92(3):448-53. doi: 10.1016/j.ajhg.2013.02.001. Epub 2013 Feb 28.

26.

Characterisation and validation of insertions and deletions in 173 patient exomes.

Lescai F, Bonfiglio S, Bacchelli C, Chanudet E, Waters A, Sisodiya SM, Kasperavičiūtė D, Williams J, Harold D, Hardy J, Kleta R, Cirak S, Williams R, Achermann JC, Anderson J, Kelsell D, Vulliamy T, Houlden H, Wood N, Sheerin U, Tonini GP, Mackay D, Hussain K, Sowden J, Kinsler V, Osinska J, Brooks T, Hubank M, Beales P, Stupka E.

PLoS One. 2012;7(12):e51292. doi: 10.1371/journal.pone.0051292. Epub 2012 Dec 14.

27.

Retinal vasculopathy in autosomal dominant dyskeratosis congenita due to TINF2 mutation.

Gleeson M, O'Marcaigh A, Cotter M, Brosnahan D, Vulliamy T, Smith OP.

Br J Haematol. 2012 Dec;159(5):498. doi: 10.1111/bjh.12088. Epub 2012 Oct 24. No abstract available.

PMID:
23094712
28.

Mutations in the telomere capping complex in bone marrow failure and related syndromes.

Walne AJ, Bhagat T, Kirwan M, Gitiaux C, Desguerre I, Leonard N, Nogales E, Vulliamy T, Dokal IS.

Haematologica. 2013 Mar;98(3):334-8. doi: 10.3324/haematol.2012.071068. Epub 2012 Aug 16.

29.

Limbal stem cell deficiency in patients with inherited stem cell disorder of dyskeratosis congenita.

Aslan D, Akata RF, Holme H, Vulliamy T, Dokal I.

Int Ophthalmol. 2012 Dec;32(6):615-22. doi: 10.1007/s10792-012-9611-8. Epub 2012 Jul 20.

PMID:
22814958
30.

Exome sequencing identifies autosomal-dominant SRP72 mutations associated with familial aplasia and myelodysplasia.

Kirwan M, Walne AJ, Plagnol V, Velangi M, Ho A, Hossain U, Vulliamy T, Dokal I.

Am J Hum Genet. 2012 May 4;90(5):888-92. doi: 10.1016/j.ajhg.2012.03.020. Epub 2012 Apr 26.

31.

Marked genetic heterogeneity in familial myelodysplasia/acute myeloid leukaemia.

Holme H, Hossain U, Kirwan M, Walne A, Vulliamy T, Dokal I.

Br J Haematol. 2012 Jul;158(2):242-248. doi: 10.1111/j.1365-2141.2012.09136.x. Epub 2012 Apr 26.

PMID:
22533337
32.

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.

Am J Hum Genet. 2012 Mar 9;90(3):426-33. doi: 10.1016/j.ajhg.2012.01.004. Epub 2012 Feb 16.

33.

Exome sequencing identifies MPL as a causative gene in familial aplastic anemia.

Walne AJ, Dokal A, Plagnol V, Beswick R, Kirwan M, de la Fuente J, Vulliamy T, Dokal I.

Haematologica. 2012 Apr;97(4):524-8. doi: 10.3324/haematol.2011.052787. Epub 2011 Dec 16.

34.

Inflammatory skin and bowel disease linked to ADAM17 deletion.

Blaydon DC, Biancheri P, Di WL, Plagnol V, Cabral RM, Brooke MA, van Heel DA, Ruschendorf F, Toynbee M, Walne A, O'Toole EA, Martin JE, Lindley K, Vulliamy T, Abrams DJ, MacDonald TT, Harper JI, Kelsell DP.

N Engl J Med. 2011 Oct 20;365(16):1502-8. doi: 10.1056/NEJMoa1100721.

35.

Differences in disease severity but similar telomere lengths in genetic subgroups of patients with telomerase and shelterin mutations.

Vulliamy TJ, Kirwan MJ, Beswick R, Hossain U, Baqai C, Ratcliffe A, Marsh J, Walne A, Dokal I.

PLoS One. 2011;6(9):e24383. doi: 10.1371/journal.pone.0024383. Epub 2011 Sep 13.

36.

Clinical utility gene card for: dyskeratosis congenita.

Dokal I, Vulliamy T, Mason P, Bessler M.

Eur J Hum Genet. 2011 Nov;19(11). doi: 10.1038/ejhg.2011.90. Epub 2011 May 25. No abstract available.

37.

Dyskeratosis congenita and the DNA damage response.

Kirwan M, Beswick R, Walne AJ, Hossain U, Casimir C, Vulliamy T, Dokal I.

Br J Haematol. 2011 Jun;153(5):634-43. doi: 10.1111/j.1365-2141.2011.08679.x. Epub 2011 Apr 8.

38.

Telomere length measurement can distinguish pathogenic from non-pathogenic variants in the shelterin component, TIN2.

Vulliamy T, Beswick R, Kirwan MJ, Hossain U, Walne AJ, Dokal I.

Clin Genet. 2012 Jan;81(1):76-81. doi: 10.1111/j.1399-0004.2010.01605.x. Epub 2011 Jan 4.

39.

Reduced-intensity conditioning using fludarabine and antithymocyte globulin alone allows stable engraftment in a patient with dyskeratosis congenita.

Vuong LG, Hemmati PG, Neuburger S, Terwey TH, Vulliamy T, Dokal I, le Coutre P, Dörken B, Arnold R.

Acta Haematol. 2010;124(4):200-3. doi: 10.1159/000318721. Epub 2010 Nov 2.

PMID:
21042011
40.

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.

Hum Mol Genet. 2010 Nov 15;19(22):4453-61. doi: 10.1093/hmg/ddq371. Epub 2010 Sep 3.

41.

Emberger syndrome-primary lymphedema with myelodysplasia: report of seven new cases.

Mansour S, Connell F, Steward C, Ostergaard P, Brice G, Smithson S, Lunt P, Jeffery S, Dokal I, Vulliamy T, Gibson B, Hodgson S, Cottrell S, Kiely L, Tinworth L, Kalidas K, Mufti G, Cornish J, Keenan R, Mortimer P, Murday V; Lymphoedema Research Consortium.

Am J Med Genet A. 2010 Sep;152A(9):2287-96. doi: 10.1002/ajmg.a.33445.

PMID:
20803646
42.

Effects of MSC co-injection on the reconstitution of aplastic anemia patient following hematopoietic stem cell transplantation.

Jaganathan BG, Tisato V, Vulliamy T, Dokal I, Marsh J, Dazzi F, Bonnet D.

Leukemia. 2010 Oct;24(10):1791-5. doi: 10.1038/leu.2010.164. Epub 2010 Aug 19. No abstract available.

PMID:
20724985
43.

Inherited bone marrow failure syndromes.

Dokal I, Vulliamy T.

Haematologica. 2010 Aug;95(8):1236-40. doi: 10.3324/haematol.2010.025619. No abstract available.

44.

Genomic instability in Hoyeraal-Hreidarsson syndrome.

Valera ET, Brassesco MS, Roxo P Jr, Lourenço CM, Scrideli CA, Ferriani VP, Tone LG, Vulliamy T, Sakamoto-Hojo ET.

Pediatr Blood Cancer. 2010 May;54(5):779-80. doi: 10.1002/pbc.22446. No abstract available.

PMID:
20205257
45.

Single-molecule analysis of the human telomerase RNA.dyskerin interaction and the effect of dyskeratosis congenita mutations.

Ashbridge B, Orte A, Yeoman JA, Kirwan M, Vulliamy T, Dokal I, Klenerman D, Balasubramanian S.

Biochemistry. 2009 Nov 24;48(46):10858-65. doi: 10.1021/bi901373e.

46.

Defining the pathogenic role of telomerase mutations in myelodysplastic syndrome and acute myeloid leukemia.

Kirwan M, Vulliamy T, Marrone A, Walne AJ, Beswick R, Hillmen P, Kelly R, Stewart A, Bowen D, Schonland SO, Whittle AM, McVerry A, Gilleece M, Dokal I.

Hum Mutat. 2009 Nov;30(11):1567-73. doi: 10.1002/humu.21115.

PMID:
19760749
47.

Severe variant of x-linked dyskeratosis congenita (Hoyeraal-Hreidarsson Syndrome) causes significant enterocolitis in early infancy.

Borggraefe I, Koletzko S, Arenz T, Fuehrer M, Hoffmann F, Dokal I, Vulliamy T, Weiler V, Griese M, Belohradsky BH, Lang T.

J Pediatr Gastroenterol Nutr. 2009 Sep;49(3):359-63. doi: 10.1097/MPG.0b013e3181a15b94. No abstract available.

PMID:
19633571
48.

Premature aging.

Vulliamy TJ.

Cell Mol Life Sci. 2009 Sep;66(18):3091-4. doi: 10.1007/s00018-009-0091-6. Epub 2009 Jul 18. Review. No abstract available.

PMID:
19618112
49.

An atypical form of dyskeratosis congenita with renal agenesis and no mutation in DKC1, TERC and TERT genes.

Balci S, Engiz O, Erekul A, Gozdasoglu S, Vulliamy T.

J Eur Acad Dermatol Venereol. 2009 May;23(5):607-8. doi: 10.1111/j.1468-3083.2008.02985.x. No abstract available.

PMID:
19415813
50.

Exogenous TERC alone can enhance proliferative potential, telomerase activity and telomere length in lymphocytes from dyskeratosis congenita patients.

Kirwan M, Beswick R, Vulliamy T, Nathwani AC, Walne AJ, Casimir C, Dokal I.

Br J Haematol. 2009 Mar;144(5):771-81. doi: 10.1111/j.1365-2141.2008.07516.x. Epub 2008 Nov 20.

PMID:
19036115

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