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Items: 13

1.

CRISPR/Cas9 mediated ELANE knockout enables neutrophilic maturation of primary hematopoietic stem and progenitor cells and induced pluripotent stem cells of severe congenital neutropenia patients.

Nasri M, Ritter M, Mir P, Dannenmann B, Aghaallaei N, Amend D, Makaryan V, Xu Y, Fletcher B, Bernhard R, Steiert I, Hahnel K, Berger J, Koch I, Sailer B, Hipp K, Zeidler C, Klimiankou M, Bajoghli B, Dale DC, Welte K, Skokowa J.

Haematologica. 2019 Jun 27. pii: haematol.2019.221804. doi: 10.3324/haematol.2019.221804. [Epub ahead of print]

2.

Neutropenia in glycogen storage disease Ib: outcomes for patients treated with granulocyte colony-stimulating factor.

Dale DC, Bolyard AA, Marrero T, Kelley ML, Makaryan V, Tran E, Leung J, Boxer LA, Kishnani PS, Austin S, Wanner C, Ferrecchia IA, Khalaf D, Maze D, Kurtzberg J, Zeidler C, Welte K, Weinstein DA.

Curr Opin Hematol. 2019 Jan;26(1):16-21. doi: 10.1097/MOH.0000000000000474.

PMID:
30451720
3.

ELANE-Related Neutropenia.

Dale DC, Makaryan V.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2002 Jun 17 [updated 2018 Aug 23].

4.

Long-Term Effects of G-CSF Therapy in Cyclic Neutropenia.

Dale DC, Bolyard A, Marrero T, Makaryan V, Bonilla M, Link DC, Newburger P, Shimamura A, Boxer LA, Spiekerman C.

N Engl J Med. 2017 Dec 7;377(23):2290-2292. doi: 10.1056/NEJMc1709258. No abstract available.

5.

Somatic mutations and clonal hematopoiesis in congenital neutropenia.

Xia J, Miller CA, Baty J, Ramesh A, Jotte MRM, Fulton RS, Vogel TP, Cooper MA, Walkovich KJ, Makaryan V, Bolyard AA, Dinauer MC, Wilson DB, Vlachos A, Myers KC, Rothbaum RJ, Bertuch AA, Dale DC, Shimamura A, Boxer LA, Link DC.

Blood. 2018 Jan 25;131(4):408-416. doi: 10.1182/blood-2017-08-801985. Epub 2017 Nov 1.

6.

Elastase inhibitors as potential therapies for ELANE-associated neutropenia.

Makaryan V, Kelley ML, Fletcher B, Bolyard AA, Aprikyan AA, Dale DC.

J Leukoc Biol. 2017 Oct;102(4):1143-1151. doi: 10.1189/jlb.5A1016-445R. Epub 2017 Jul 28.

7.

Association Between Absolute Neutrophil Count and Variation at TCIRG1: The NHLBI Exome Sequencing Project.

Rosenthal EA, Makaryan V, Burt AA, Crosslin DR, Kim DS, Smith JD, Nickerson DA, Reiner AP, Rich SS, Jackson RD, Ganesh SK, Polfus LM, Qi L, Dale DC; University of Washington, Center for Mendelian Genomics, Jarvik GP.

Genet Epidemiol. 2016 Sep;40(6):470-4. doi: 10.1002/gepi.21976. Epub 2016 May 27.

8.

The diversity of mutations and clinical outcomes for ELANE-associated neutropenia.

Makaryan V, Zeidler C, Bolyard AA, Skokowa J, Rodger E, Kelley ML, Boxer LA, Bonilla MA, Newburger PE, Shimamura A, Zhu B, Rosenberg PS, Link DC, Welte K, Dale DC.

Curr Opin Hematol. 2015 Jan;22(1):3-11. doi: 10.1097/MOH.0000000000000105. Review.

9.

TCIRG1-associated congenital neutropenia.

Makaryan V, Rosenthal EA, Bolyard AA, Kelley ML, Below JE, Bamshad MJ, Bofferding KM, Smith JD, Buckingham K, Boxer LA, Skokowa J, Welte K, Nickerson DA, Jarvik GP, Dale DC; UW Center for Mendelian Genomics.

Hum Mutat. 2014 Jul;35(7):824-7. doi: 10.1002/humu.22563. Epub 2014 May 21.

10.

Cooperativity of RUNX1 and CSF3R mutations in severe congenital neutropenia: a unique pathway in myeloid leukemogenesis.

Skokowa J, Steinemann D, Katsman-Kuipers JE, Zeidler C, Klimenkova O, Klimiankou M, Unalan M, Kandabarau S, Makaryan V, Beekman R, Behrens K, Stocking C, Obenauer J, Schnittger S, Kohlmann A, Valkhof MG, Hoogenboezem R, Göhring G, Reinhardt D, Schlegelberger B, Stanulla M, Vandenberghe P, Donadieu J, Zwaan CM, Touw IP, van den Heuvel-Eibrink MM, Dale DC, Welte K.

Blood. 2014 Apr 3;123(14):2229-37. doi: 10.1182/blood-2013-11-538025. Epub 2014 Feb 12.

11.

The cellular and molecular mechanisms for neutropenia in Barth syndrome.

Makaryan V, Kulik W, Vaz FM, Allen C, Dror Y, Dale DC, Aprikyan AA.

Eur J Haematol. 2012 Mar;88(3):195-209. doi: 10.1111/j.1600-0609.2011.01725.x. Epub 2011 Dec 4.

12.

The CXCR4 antagonist plerixafor is a potential therapy for myelokathexis, WHIM syndrome.

Dale DC, Bolyard AA, Kelley ML, Westrup EC, Makaryan V, Aprikyan A, Wood B, Hsu FJ.

Blood. 2011 Nov 3;118(18):4963-6. doi: 10.1182/blood-2011-06-360586. Epub 2011 Aug 11.

13.

Neutrophil elastase and granulocyte colony-stimulating factor receptor mutation analyses and leukemia evolution in severe congenital neutropenia patients belonging to the original Kostmann family in northern Sweden.

Carlsson G, Aprikyan AA, Ericson KG, Stein S, Makaryan V, Dale DC, Nordenskjöld M, Fadeel B, Palmblad J, Hentera JI.

Haematologica. 2006 May;91(5):589-95.

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