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Items: 1 to 20 of 144

1.

The European Society for Immunodeficiencies (ESID) Registry Working Definitions for the Clinical Diagnosis of Inborn Errors of Immunity.

Seidel MG, Kindle G, Gathmann B, Quinti I, Buckland M, van Montfrans J, Scheible R, Rusch S, Gasteiger LM, Grimbacher B, Mahlaoui N, Ehl S; ESID Registry Working Party and collaborators.

J Allergy Clin Immunol Pract. 2019 Feb 15. pii: S2213-2198(19)30168-0. doi: 10.1016/j.jaip.2019.02.004. [Epub ahead of print]

PMID:
30776527
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.

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
7.

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.

8.

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.

9.

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.

10.

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.

11.

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.

12.

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.

13.

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
14.

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
15.

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.

16.

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.

17.

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.

18.

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.

19.

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.

20.

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

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