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Items: 1 to 20 of 134

1.

ELANE mutations in cyclic and severe congenital neutropenia: genetics and pathophysiology.

Horwitz MS, Corey SJ, Grimes HL, Tidwell T.

Hematol Oncol Clin North Am. 2013 Feb;27(1):19-41, vii. doi: 10.1016/j.hoc.2012.10.004. Epub 2012 Nov 7. Review.

2.

Four novel ELANE mutations in patients with congenital neutropenia.

Kurnikova M, Maschan M, Dinova E, Shagina I, Finogenova N, Mamedova E, Polovtseva T, Shagin D, Shcherbina A.

Pediatr Blood Cancer. 2011 Aug;57(2):332-5. doi: 10.1002/pbc.23104. Epub 2011 Mar 21.

PMID:
21425445
3.

The spectrum of ELANE mutations and their implications in severe congenital and cyclic neutropenia.

Germeshausen M, Deerberg S, Peter Y, Reimer C, Kratz CP, Ballmaier M.

Hum Mutat. 2013 Jun;34(6):905-14. doi: 10.1002/humu.22308. Epub 2013 Apr 2.

PMID:
23463630
4.

Cyclic neutropenia and severe congenital neutropenia in patients with a shared ELANE mutation and paternal haplotype: evidence for phenotype determination by modifying genes.

Newburger PE, Pindyck TN, Zhu Z, Bolyard AA, Aprikyan AA, Dale DC, Smith GD, Boxer LA.

Pediatr Blood Cancer. 2010 Aug;55(2):314-7. doi: 10.1002/pbc.22537.

6.

Clinical characteristics of severe congenital neutropenia caused by novel ELANE gene mutations.

Shu Z, Li XH, Bai XM, Zhang ZY, Jiang LP, Tang XM, Zhao XD.

Pediatr Infect Dis J. 2015 Feb;34(2):203-7. doi: 10.1097/INF.0000000000000522.

PMID:
25162927
7.

Severe congenital neutropenia in a multigenerational family with a novel neutrophil elastase (ELANE) mutation.

van de Vosse E, Verhard EM, Tool AJ, de Visser AW, Kuijpers TW, Hiemstra PS, van Dissel JT.

Ann Hematol. 2011 Feb;90(2):151-8. doi: 10.1007/s00277-010-1056-4. Epub 2010 Aug 28.

8.

Prevalence of mutations in ELANE, GFI1, HAX1, SBDS, WAS and G6PC3 in patients with severe congenital neutropenia.

Xia J, Bolyard AA, Rodger E, Stein S, Aprikyan AA, Dale DC, Link DC.

Br J Haematol. 2009 Nov;147(4):535-42. doi: 10.1111/j.1365-2141.2009.07888.x. Epub 2009 Sep 22.

9.

Characterisation of Neutropenia-Associated Neutrophil Elastase Mutations in a Murine Differentiation Model In Vitro and In Vivo.

Wiesmeier M, Gautam S, Kirschnek S, Häcker G.

PLoS One. 2016 Dec 12;11(12):e0168055. doi: 10.1371/journal.pone.0168055. eCollection 2016.

10.

Paternal Somatic Mosaicism of a Novel Frameshift Mutation in ELANE Causing Severe Congenital Neutropenia.

Kim HJ, Song MJ, Lee KO, Kim SH, Kim HJ.

Pediatr Blood Cancer. 2015 Dec;62(12):2229-31. doi: 10.1002/pbc.25654. Epub 2015 Jul 14.

PMID:
26174650
11.

Hepatic hemangioendothelioma in an infant with severe congenital neutropenia.

Dinand V, Yadav SP, Bellanné-Chantelot C, Jain S, Bhargava M, Sachdeva A.

J Pediatr Hematol Oncol. 2012 May;34(4):298-300. doi: 10.1097/MPH.0b013e318249a4dc.

PMID:
22510773
12.

Novel genetic etiologies of severe congenital neutropenia.

Boztug K, Klein C.

Curr Opin Immunol. 2009 Oct;21(5):472-80. doi: 10.1016/j.coi.2009.09.003. Epub 2009 Sep 24. Review.

PMID:
19782549
13.

Mutations in the neutrophil elastase gene in cyclic and congenital neutropenia.

Aprikyan AA, Dale DC.

Curr Opin Immunol. 2001 Oct;13(5):535-8. Review.

PMID:
11543999
15.

Ela2 mutations and clinical manifestations in familial congenital neutropenia.

Shiohara M, Shigemura T, Saito S, Tanaka M, Yanagisawa R, Sakashita K, Asada H, Ishii E, Koike K, Chin M, Kobayashi M, Koike K.

J Pediatr Hematol Oncol. 2009 May;31(5):319-24. doi: 10.1097/MPH.0b013e3181984dbe.

PMID:
19415009
16.

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.

17.

Mutations in the ELANE gene are associated with development of periodontitis in patients with severe congenital neutropenia.

Ye Y, Carlsson G, Wondimu B, Fahlén A, Karlsson-Sjöberg J, Andersson M, Engstrand L, Yucel-Lindberg T, Modéer T, Pütsep K.

J Clin Immunol. 2011 Dec;31(6):936-45. doi: 10.1007/s10875-011-9572-0. Epub 2011 Jul 29.

18.

Double de novo mutations of ELA2 in cyclic and severe congenital neutropenia.

Salipante SJ, Benson KF, Luty J, Hadavi V, Kariminejad R, Kariminejad MH, Rezaei N, Horwitz MS.

Hum Mutat. 2007 Sep;28(9):874-81.

PMID:
17436313
19.

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.

PMID:
28754797
20.

Neutrophil elastase in cyclic and severe congenital neutropenia.

Horwitz MS, Duan Z, Korkmaz B, Lee HH, Mealiffe ME, Salipante SJ.

Blood. 2007 Mar 1;109(5):1817-24. Epub 2006 Oct 19. Review.

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