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Items: 1 to 20 of 138

1.

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.

2.

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.

3.

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
4.

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.

5.

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.

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
7.

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
8.

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.

9.

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
10.

Different pattern of gene mutations in Iranian patients with severe congenital neutropenia (including 2 new mutations).

Alizadeh Z, Fazlollahi MR, Houshmand M, Maddah M, Chavoshzadeh Z, Hamidieh AA, Shamsian BS, Eshghi P, Bolandghamat Pour S, Sadaaie Jahromi H, Mansouri M, Movahedi M, Nayebpour M, Pourpak Z, Moin M.

Iran J Allergy Asthma Immunol. 2013 Mar;12(1):86-92. doi: 012.01/ijaai.8692.

11.

Periodontal disease in patients from the original Kostmann family with severe congenital neutropenia.

Carlsson G, Wahlin YB, Johansson A, Olsson A, Eriksson T, Claesson R, Hänström L, Henter JI.

J Periodontol. 2006 Apr;77(4):744-51.

PMID:
16584360
12.

Incidence of severe congenital neutropenia in Sweden and risk of evolution to myelodysplastic syndrome/leukaemia.

Carlsson G, Fasth A, Berglöf E, Lagerstedt-Robinson K, Nordenskjöld M, Palmblad J, Henter JI, Fadeel B.

Br J Haematol. 2012 Aug;158(3):363-9. doi: 10.1111/j.1365-2141.2012.09171.x. Epub 2012 May 25.

PMID:
22624626
13.

The influence of interleukin gene polymorphism on expression of interleukin-1beta and tumor necrosis factor-alpha in periodontal tissue and gingival crevicular fluid.

Engebretson SP, Lamster IB, Herrera-Abreu M, Celenti RS, Timms JM, Chaudhary AG, di Giovine FS, Kornman KS.

J Periodontol. 1999 Jun;70(6):567-73.

PMID:
10397510
14.

Identifying patients with neutrophil elastase (ELANE) mutations from patients with a presumptive diagnosis of autoimmune neutropenia.

Lee WI, Chen SH, Huang JL, Jaing TH, Chung HT, Yeh KW, Chen LC, Yao TC, Hsieh MY, Lin SJ, Kuo ML.

Immunobiology. 2013 May;218(5):828-33. doi: 10.1016/j.imbio.2012.09.001. Epub 2012 Oct 26.

PMID:
23206890
15.

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.

16.

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
17.

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.

18.

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

Dale DC, Person RE, Bolyard AA, Aprikyan AG, Bos C, Bonilla MA, Boxer LA, Kannourakis G, Zeidler C, Welte K, Benson KF, Horwitz M.

Blood. 2000 Oct 1;96(7):2317-22.

19.

Different clinical phenotypes in familial severe congenital neutropenia cases with same mutation of the ELANE gene.

Cho HK, Jeon IS.

J Korean Med Sci. 2014 Mar;29(3):452-5. doi: 10.3346/jkms.2014.29.3.452. Epub 2014 Feb 27.

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