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Items: 1 to 20 of 92

1.

Activating PAX gene family paralogs to complement PAX5 leukemia driver mutations.

Hart MR, Anderson DJ, Porter CC, Neff T, Levin M, Horwitz MS.

PLoS Genet. 2018 Sep 14;14(9):e1007642. doi: 10.1371/journal.pgen.1007642. eCollection 2018 Sep.

2.

Acute lymphoblastic leukemia in a child with Leri-Weill syndrome and complete SHOX gene deletion: A Case Report.

Volejnikova J, Zapletalova J, Jarosova M, Urbankova H, Petr V, Klaskova E, Horwitz MS, Hajduch M, Mihal V.

Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub. 2018 Mar;162(1):65-70. doi: 10.5507/bp.2018.002. Epub 2018 Feb 21.

3.

Case Report of an Adolescent Male With Unexplained Pancytopenia: GATA2-Associated Bone Marrow Failure and Genetic Testing.

Azevedo L, Nofal R, Jay A, Lorenzana A, Keel S, Abraham RS, Horwitz M, van Hee M, Sawaf H.

Glob Pediatr Health. 2017 Dec 4;4:2333794X17744947. doi: 10.1177/2333794X17744947. eCollection 2017. No abstract available. Erratum in: Glob Pediatr Health. 2018 Sep 20;5:2333794X18804903.

4.

GATA2 deficiency and related myeloid neoplasms.

Wlodarski MW, Collin M, Horwitz MS.

Semin Hematol. 2017 Apr;54(2):81-86. doi: 10.1053/j.seminhematol.2017.05.002. Epub 2017 May 10.

5.

Prolonged pharmacological inhibition of cathepsin C results in elimination of neutrophil serine proteases.

Guarino C, Hamon Y, Croix C, Lamort AS, Dallet-Choisy S, Marchand-Adam S, Lesner A, Baranek T, Viaud-Massuard MC, Lauritzen C, Pedersen J, Heuzé-Vourc'h N, Si-Tahar M, Fıratlı E, Jenne DE, Gauthier F, Horwitz MS, Borregaard N, Korkmaz B.

Biochem Pharmacol. 2017 May 1;131:52-67. doi: 10.1016/j.bcp.2017.02.009. Epub 2017 Feb 11.

PMID:
28193451
6.

GATA factor mutations in hematologic disease.

Crispino JD, Horwitz MS.

Blood. 2017 Apr 13;129(15):2103-2110. doi: 10.1182/blood-2016-09-687889. Epub 2017 Feb 8. Review.

7.

Genome sequencing in a case of Niemann-Pick type C.

Dougherty M, Lazar J, Klein JC, Diaz K, Gobillot T, Grunblatt E, Hasle N, Lawrence D, Maurano M, Nelson M, Olson G, Srivatsan S, Shendure J, Keene CD, Bird T, Horwitz MS, Marshall DA.

Cold Spring Harb Mol Case Stud. 2016 Nov;2(6):a001222.

8.

Whole-organism lineage tracing by combinatorial and cumulative genome editing.

McKenna A, Findlay GM, Gagnon JA, Horwitz MS, Schier AF, Shendure J.

Science. 2016 Jul 29;353(6298):aaf7907. doi: 10.1126/science.aaf7907. Epub 2016 May 26.

9.

Erratum: Heritable GATA2 mutations associated with familial AML-MDS: a case report and review of literature.

Gao J, Gentzler RD, Timms AE, Horwitz MS, Frankfurt O, Altman JK, Peterson LC.

J Hematol Oncol. 2015 Dec 29;8:131. doi: 10.1186/s13045-015-0228-z. No abstract available.

10.

Pathogenesis of ELANE-mutant severe neutropenia revealed by induced pluripotent stem cells.

Nayak RC, Trump LR, Aronow BJ, Myers K, Mehta P, Kalfa T, Wellendorf AM, Valencia CA, Paddison PJ, Horwitz MS, Grimes HL, Lutzko C, Cancelas JA.

J Clin Invest. 2015 Aug 3;125(8):3103-16. doi: 10.1172/JCI80924. Epub 2015 Jul 20.

11.

Mechanisms and clinical applications of chromosomal instability in lymphoid malignancy.

Krem MM, Press OW, Horwitz MS, Tidwell T.

Br J Haematol. 2015 Oct;171(1):13-28. doi: 10.1111/bjh.13507. Epub 2015 May 26. Review.

PMID:
26018193
12.

Germline ETV6 mutations in familial thrombocytopenia and hematologic malignancy.

Zhang MY, Churpek JE, Keel SB, Walsh T, Lee MK, Loeb KR, Gulsuner S, Pritchard CC, Sanchez-Bonilla M, Delrow JJ, Basom RS, Forouhar M, Gyurkocza B, Schwartz BS, Neistadt B, Marquez R, Mariani CJ, Coats SA, Hofmann I, Lindsley RC, Williams DA, Abkowitz JL, Horwitz MS, King MC, Godley LA, Shimamura A.

Nat Genet. 2015 Feb;47(2):180-5. doi: 10.1038/ng.3177. Epub 2015 Jan 12.

13.

Genome sequencing of idiopathic pulmonary fibrosis in conjunction with a medical school human anatomy course.

Kumar A, Dougherty M, Findlay GM, Geisheker M, Klein J, Lazar J, Machkovech H, Resnick J, Resnick R, Salter AI, Talebi-Liasi F, Arakawa C, Baudin J, Bogaard A, Salesky R, Zhou Q, Smith K, Clark JI, Shendure J, Horwitz MS.

PLoS One. 2014 Sep 5;9(9):e106744. doi: 10.1371/journal.pone.0106744. eCollection 2014.

14.

Targeted correction of RUNX1 mutation in FPD patient-specific induced pluripotent stem cells rescues megakaryopoietic defects.

Connelly JP, Kwon EM, Gao Y, Trivedi NS, Elkahloun AG, Horwitz MS, Cheng L, Liu PP.

Blood. 2014 Sep 18;124(12):1926-30.

15.

Heritable GATA2 mutations associated with familial AML-MDS: a case report and review of literature.

Gao J, Gentzler RD, Timms AE, Horwitz MS, Frankfurt O, Altman JK, Peterson LC.

J Hematol Oncol. 2014 Apr 22;7:36. doi: 10.1186/1756-8722-7-36. Review. Erratum in: J Hematol Oncol. 2015;8:131.

16.

GATA2 deficiency: flesh and blood.

Horwitz MS.

Blood. 2014 Feb 6;123(6):799-800. doi: 10.1182/blood-2013-12-539858. No abstract available.

17.

Neutropenia-associated ELANE mutations disrupting translation initiation produce novel neutrophil elastase isoforms.

Tidwell T, Wechsler J, Nayak RC, Trump L, Salipante SJ, Cheng JC, Donadieu J, Glaubach T, Corey SJ, Grimes HL, Lutzko C, Cancelas JA, Horwitz MS.

Blood. 2014 Jan 23;123(4):562-9. doi: 10.1182/blood-2013-07-513242. Epub 2013 Nov 1.

18.

Clonal expansions and short telomeres are associated with neoplasia in early-onset, but not late-onset, ulcerative colitis.

Salk JJ, Bansal A, Lai LA, Crispin DA, Ussakli CH, Horwitz MS, Bronner MP, Brentnall TA, Loeb LA, Rabinovitch PS, Risques RA.

Inflamm Bowel Dis. 2013 Nov;19(12):2593-602. doi: 10.1097/MIB.0b013e3182a87640.

19.

A recurrent germline PAX5 mutation confers susceptibility to pre-B cell acute lymphoblastic leukemia.

Shah S, Schrader KA, Waanders E, Timms AE, Vijai J, Miething C, Wechsler J, Yang J, Hayes J, Klein RJ, Zhang J, Wei L, Wu G, Rusch M, Nagahawatte P, Ma J, Chen SC, Song G, Cheng J, Meyers P, Bhojwani D, Jhanwar S, Maslak P, Fleisher M, Littman J, Offit L, Rau-Murthy R, Fleischut MH, Corines M, Murali R, Gao X, Manschreck C, Kitzing T, Murty VV, Raimondi S, Kuiper RP, Simons A, Schiffman JD, Onel K, Plon SE, Wheeler D, Ritter D, Ziegler DS, Tucker K, Sutton R, Chenevix-Trench G, Li J, Huntsman DG, Hansford S, Senz J, Walsh T, Lee M, Hahn CN, Roberts K, King MC, Lo SM, Levine RL, Viale A, Socci ND, Nathanson KL, Scott HS, Daly M, Lipkin SM, Lowe SW, Downing JR, Altshuler D, Sandlund JT, Horwitz MS, Mullighan CG, Offit K.

Nat Genet. 2013 Oct;45(10):1226-1231. doi: 10.1038/ng.2754. Epub 2013 Sep 8.

20.

Mitotic errors, aneuploidy and micronuclei in Hodgkin lymphoma pathogenesis.

Krem MM, Horwitz MS.

Commun Integr Biol. 2013 May 1;6(3):e23544. doi: 10.4161/cib.23544. Epub 2013 May 13.

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