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Items: 17

1.

Somatic inactivating PTPRJ mutations and dysregulated pathways identified in canine malignant melanoma by integrated comparative genomic analysis.

Hendricks WPD, Zismann V, Sivaprakasam K, Legendre C, Poorman K, Tembe W, Perdigones N, Kiefer J, Liang W, DeLuca V, Stark M, Ruhe A, Froman R, Duesbery NS, Washington M, Aldrich J, Neff MW, Huentelman MJ, Hayward N, Brown K, Thamm D, Post G, Khanna C, Davis B, Breen M, Sekulic A, Trent JM.

PLoS Genet. 2018 Sep 6;14(9):e1007589. doi: 10.1371/journal.pgen.1007589. eCollection 2018 Sep.

2.

Somatic HLA Mutations Expose the Role of Class I-Mediated Autoimmunity in Aplastic Anemia and its Clonal Complications.

Babushok DV, Duke JL, Xie HM, Stanley N, Atienza J, Perdigones N, Nicholas P, Ferriola D, Li Y, Huang H, Ye W, Morrissette JJD, Kearns J, Porter DL, Podsakoff GM, Eisenlohr LC, Biegel JA, Chou ST, Monos DS, Bessler M, Olson TS.

Blood Adv. 2017 Oct 10;1(22):1900-1910.

3.

Capturing tumor heterogeneity and clonal evolution in solid cancers using circulating tumor DNA analysis.

Perdigones N, Murtaza M.

Pharmacol Ther. 2017 Jun;174:22-26. doi: 10.1016/j.pharmthera.2017.02.003. Epub 2017 Feb 3. Review.

PMID:
28167216
4.

Clonal hematopoiesis in patients with dyskeratosis congenita.

Perdigones N, Perin JC, Schiano I, Nicholas P, Biegel JA, Mason PJ, Babushok DV, Bessler M.

Am J Hematol. 2016 Dec;91(12):1227-1233. doi: 10.1002/ajh.24552. Epub 2016 Oct 21.

5.

Emergence of clonal hematopoiesis in the majority of patients with acquired aplastic anemia.

Babushok DV, Perdigones N, Perin JC, Olson TS, Ye W, Roth JJ, Lind C, Cattier C, Li Y, Hartung H, Paessler ME, Frank DM, Xie HM, Cross S, Cockroft JD, Podsakoff GM, Monos D, Biegel JA, Mason PJ, Bessler M.

Cancer Genet. 2015 Apr;208(4):115-28. doi: 10.1016/j.cancergen.2015.01.007. Epub 2015 Feb 2.

6.

Case Report: Paroxysmal nocturnal hemoglobinuria in a woman heterozygous for G6PD A-.

Perdigones N, Morales M, Mason P, Bessler M.

Version 2. F1000Res. 2014 Aug 13 [revised 2014 Jan 1];3:194. doi: 10.12688/f1000research.4980.2. eCollection 2014.

7.

Using induced human pluripotent stem cells to study Diamond-Blackfan anemia: an outlook on the clinical possibilities.

Mason PJ, Perdigones N, Bessler M.

Expert Rev Hematol. 2013 Dec;6(6):627-9. doi: 10.1586/17474086.2013.859521. No abstract available.

8.

Single nucleotide polymorphism array analysis of bone marrow failure patients reveals characteristic patterns of genetic changes.

Babushok DV, Xie HM, Roth JJ, Perdigones N, Olson TS, Cockroft JD, Gai X, Perin JC, Li Y, Paessler ME, Hakonarson H, Podsakoff GM, Mason PJ, Biegel JA, Bessler M.

Br J Haematol. 2014 Jan;164(1):73-82. doi: 10.1111/bjh.12603. Epub 2013 Oct 14.

9.

Telomere biology and translational research.

Mason PJ, Perdigones N.

Transl Res. 2013 Dec;162(6):333-42. doi: 10.1016/j.trsl.2013.08.009. Epub 2013 Sep 23. Review. No abstract available.

10.

Common polymorphic deletion of glutathione S-transferase theta predisposes to acquired aplastic anemia: Independent cohort and meta-analysis of 609 patients.

Babushok DV, Li Y, Roth JJ, Perdigones N, Cockroft JD, Biegel JA, Mason PJ, Bessler M.

Am J Hematol. 2013 Oct;88(10):862-7. doi: 10.1002/ajh.23521. Epub 2013 Jul 23.

11.

A family with Hoyeraal-Hreidarsson syndrome and four variants in two genes of the telomerase core complex.

Vogiatzi P, Perdigones N, Mason PJ, Wilson DB, Bessler M.

Pediatr Blood Cancer. 2013 Jun;60(6):E4-6. doi: 10.1002/pbc.24389. Epub 2013 Jan 17.

12.

Acquired copy number neutral loss of heterozygosity of chromosome 7 associated with clonal haematopoiesis in a patient with Shwachman-Diamond syndrome.

Parikh S, Perdigones N, Paessler M, Greenbaum B, Tooke LS, Biegel JA, Mason PJ, Bessler M.

Br J Haematol. 2012 Nov;159(4):480-2. doi: 10.1111/bjh.12032. Epub 2012 Aug 31. No abstract available.

13.

Study of chromosomal region 5p13.1 in Crohn's disease, ulcerative colitis, and rheumatoid arthritis.

Perdigones N, Martín E, Robledo G, Lamas JR, Taxonera C, Díaz-Rubio M, de la Concha EG, López-Nevot MA, García A, Gómez-García M, Fernández-Gutiérrez B, Martín J, Urcelay E.

Hum Immunol. 2010 Aug;71(8):826-8. doi: 10.1016/j.humimm.2010.05.010. Epub 2010 May 16.

PMID:
20561984
14.

Evidence of epistasis between TNFRSF14 and TNFRSF6B polymorphisms in patients with rheumatoid arthritis.

Perdigones N, Vigo AG, Lamas JR, Martínez A, Balsa A, Pascual-Salcedo D, de la Concha EG, Fernández-Gutiérrez B, Urcelay E.

Arthritis Rheum. 2010 Mar;62(3):705-10. doi: 10.1002/art.27292.

15.

6q23 polymorphisms in rheumatoid arthritis Spanish patients.

Perdigones N, Lamas JR, Vigo AG, de la Concha EG, Jover JA, Urcelay E, Gutiérrez BF, Martínez A.

Rheumatology (Oxford). 2009 Jun;48(6):618-21. doi: 10.1093/rheumatology/kep053. Epub 2009 Mar 25.

PMID:
19321514
16.

Adaptation of phytoplankton to novel residual materials of water pollution: an experimental model analysing the evolution of an experimental microalgal population under formaldehyde contamination.

López-Rodas V, Perdigones N, Marvá F, Rouco M, García-Cabrera JA.

Bull Environ Contam Toxicol. 2008 Feb;80(2):158-62. doi: 10.1007/s00128-007-9336-y. Epub 2008 Jan 15.

PMID:
18196189
17.

How eukaryotic algae can adapt to the Spain's Rio Tinto: a neo-Darwinian proposal for rapid adaptation to an extremely hostile ecosystem.

Costas E, Flores-Moya A, Perdigones N, Maneiro E, Blanco JL, García ME, López-Rodas V.

New Phytol. 2007;175(2):334-9.

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