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Items: 1 to 50 of 141

1.

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 9. pii: 201803275. doi: 10.1073/pnas.1803275115. [Epub ahead of print]

2.

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 Apr 19. doi: 10.1038/s41375-018-0134-9. [Epub ahead of print] No abstract available.

PMID:
29749400
3.

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.

4.

British Committee for Standards in Haematology guidelines for aplastic anemia: Single centre retrospective review finds no compelling evidence for the recommended higher platelet count threshold of 20 × 109 /L - RESPONSE to Yan et al.

Killick SB, Bown N, Cavenagh J, Dokal I, Foukaneli T, Hillmen P, Ireland R, Kulasekararaj A, Mufti G, Snowden JA, Samarasinghe S, Wood A, Marsh JCW; British Society for Standards in Haematology AA Guidelines Committee.

Br J Haematol. 2018 Jul;182(2):286-287. doi: 10.1111/bjh.14766. Epub 2017 May 23. No abstract available.

PMID:
28542907
5.

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.

6.

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.

7.

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.

8.

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.

9.

TGF-β Pathway Inhibition Signals New Hope for Fanconi Anemia.

Tummala H, Dokal I.

Cell Stem Cell. 2016 May 5;18(5):567-8. doi: 10.1016/j.stem.2016.04.008.

10.

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.

11.

Guidelines for the diagnosis and management of adult aplastic anaemia.

Killick SB, Bown N, Cavenagh J, Dokal I, Foukaneli T, Hill A, Hillmen P, Ireland R, Kulasekararaj A, Mufti G, Snowden JA, Samarasinghe S, Wood A, Marsh JC; British Society for Standards in Haematology.

Br J Haematol. 2016 Jan;172(2):187-207. doi: 10.1111/bjh.13853. Epub 2015 Nov 16. No abstract available. Erratum in: Br J Haematol. 2016 Nov;175(3):546.

PMID:
26568159
12.

Inherited bone marrow failure syndromes.

Collins J, Dokal I.

Hematology. 2015 Aug;20(7):433-4. doi: 10.1179/1024533215Z.000000000381. Review. No abstract available.

PMID:
26218202
13.

Disease evolution and outcomes in familial AML with germline CEBPA mutations.

Tawana K, Wang J, Renneville A, Bödör C, Hills R, Loveday C, Savic A, Van Delft FW, Treleaven J, Georgiades P, Uglow E, Asou N, Uike N, Debeljak M, Jazbec J, Ancliff P, Gale R, Thomas X, Mialou V, Döhner K, Bullinger L, Mueller B, Pabst T, Stelljes M, Schlegelberger B, Wozniak E, Iqbal S, Okosun J, Araf S, Frank AK, Lauridsen FB, Porse B, Nerlov C, Owen C, Dokal I, Gribben J, Smith M, Preudhomme C, Chelala C, Cavenagh J, Fitzgibbon J.

Blood. 2015 Sep 3;126(10):1214-23. doi: 10.1182/blood-2015-05-647172. Epub 2015 Jul 10.

14.

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.

15.

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.

16.

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.

17.

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.

18.

X-linked dyskeratosis congenita presenting in adulthood with photodamaged skin and epiphora.

Powell JB, Dokal I, Carr R, Taibjee S, Cave B, Moss C.

Clin Exp Dermatol. 2014 Apr;39(3):310-4. doi: 10.1111/ced.12272.

PMID:
24635067
19.

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.

20.

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
21.

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.

22.

Aberrant 3' oligoadenylation of spliceosomal U6 small nuclear RNA in poikiloderma with neutropenia.

Hilcenko C, Simpson PJ, Finch AJ, Bowler FR, Churcher MJ, Jin L, Packman LC, Shlien A, Campbell P, Kirwan M, Dokal I, Warren AJ.

Blood. 2013 Feb 7;121(6):1028-38. doi: 10.1182/blood-2012-10-461491. Epub 2012 Nov 27.

23.

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.

24.

Heightened DNA damage response impairs hematopoiesis in Fanconi anemia.

Dokal I.

Haematologica. 2012 Aug;97(8):1117. doi: 10.3324/haematol.2012.073643. No abstract available.

25.

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
26.

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.

27.

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
28.

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.

29.

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.

30.

Dyskeratosis congenita.

Dokal I.

Hematology Am Soc Hematol Educ Program. 2011;2011:480-6. doi: 10.1182/asheducation-2011.1.480. Review.

PMID:
22160078
31.

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.

32.

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.

33.

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.

34.
35.

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.

36.

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
37.

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.

38.

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
39.

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
40.

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.

41.

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.

42.

Hepatitis-associated aplastic anemia presenting as a familial bone marrow failure syndrome.

Breakey VR, Meyn S, Ng V, Allen C, Dokal I, Lansdorp PM, Abla O, Dror Y.

J Pediatr Hematol Oncol. 2009 Nov;31(11):884-7. doi: 10.1097/MPH.0b013e3181b86ec3.

PMID:
19779378
43.

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
44.

Guidelines for the diagnosis and management of aplastic anaemia.

Marsh JC, Ball SE, Cavenagh J, Darbyshire P, Dokal I, Gordon-Smith EC, Keidan J, Laurie A, Martin A, Mercieca J, Killick SB, Stewart R, Yin JA; British Committee for Standards in Haematology.

Br J Haematol. 2009 Oct;147(1):43-70. doi: 10.1111/j.1365-2141.2009.07842.x. Epub 2009 Aug 10. Review. No abstract available.

PMID:
19673883
45.

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
46.

Dyskeratosis congenita, stem cells and telomeres.

Kirwan M, Dokal I.

Biochim Biophys Acta. 2009 Apr;1792(4):371-9. doi: 10.1016/j.bbadis.2009.01.010. Epub 2009 Feb 7. Review.

47.

Dyskeratosis congenita: the first NIH clinical research workshop.

Savage SA, Dokal I, Armanios M, Aubert G, Cowen EW, Domingo DL, Giri N, Greene MH, Orchard PJ, Tolar J, Tsilou E, Van Waes C, Wong JM, Young NS, Alter BP.

Pediatr Blood Cancer. 2009 Sep;53(3):520-3. doi: 10.1002/pbc.22061.

48.

Advances in the understanding of dyskeratosis congenita.

Walne AJ, Dokal I.

Br J Haematol. 2009 Apr;145(2):164-72. doi: 10.1111/j.1365-2141.2009.07598.x. Epub 2009 Feb 4. Review.

49.

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
50.

Telomerase dysfunction and dyskeratosis congenita.

Walne AJ, Dokal I.

Cytotechnology. 2004 Jun;45(1-2):13-22. doi: 10.1007/s10616-004-5121-5.

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