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Items: 1 to 20 of 142

1.

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.

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.

Two cases of syndromic neutropenia with a report of novel mutation in G6PC3.

Alizadeh Z, Fazlollahi MR, Eshghi P, Hamidieh AA, Ghadami M, Pourpak Z.

Iran J Allergy Asthma Immunol. 2011 Sep;10(3):227-30. doi: 010.03/ijaai.227230.

4.

Genetic analysis and clinical picture of severe congenital neutropenia in Israel.

Lebel A, Yacobovich J, Krasnov T, Koren A, Levin C, Kaplinsky C, Ravel-Vilk S, Laor R, Attias D, Ben Barak A, Shtager D, Stein J, Kuperman A, Miskin H, Dgany O, Giri N, Alter BP, Tamary H.

Pediatr Blood Cancer. 2015 Jan;62(1):103-8. doi: 10.1002/pbc.25251. Epub 2014 Oct 4.

PMID:
25284454
5.

Digenic mutations in severe congenital neutropenia.

Germeshausen M, Zeidler C, Stuhrmann M, Lanciotti M, Ballmaier M, Welte K.

Haematologica. 2010 Jul;95(7):1207-10. doi: 10.3324/haematol.2009.017665. Epub 2010 Mar 10.

6.

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
7.

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.

8.

Homozygous HAX1 mutations in severe congenital neutropenia patients with sporadic disease: a novel mutation in two unrelated British kindreds.

Smith BN, Ancliff PJ, Pizzey A, Khwaja A, Linch DC, Gale RE.

Br J Haematol. 2009 Mar;144(5):762-70. doi: 10.1111/j.1365-2141.2008.07493.x. Epub 2008 Nov 22.

PMID:
19036076
9.

Neurological findings and genetic alterations in patients with Kostmann syndrome and HAX1 mutations.

Roques G, Munzer M, Barthez MA, Beaufils S, Beaupain B, Flood T, Keren B, Bellanné-Chantelot C, Donadieu J.

Pediatr Blood Cancer. 2014 Jun;61(6):1041-8. doi: 10.1002/pbc.24964. Epub 2014 Jan 30. Review.

PMID:
24482108
10.

A novel HAX1 gene mutation in severe congenital neutropenia (SCN) associated with neurological manifestations.

Faiyaz-Ul-Haque M, Al-Jefri A, Al-Dayel F, Bhuiyan JA, Abalkhail HA, Al-Nounou R, Al-Abdullatif A, Pulicat MS, Gaafar A, Alaiya AA, Peltekova I, Zaidi SH.

Eur J Pediatr. 2010 Jun;169(6):661-6. doi: 10.1007/s00431-010-1150-6. Epub 2010 Feb 25.

PMID:
20182745
11.

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
12.

Genetic insights into congenital neutropenia.

Klein C, Welte K.

Clin Rev Allergy Immunol. 2010 Feb;38(1):68-74. doi: 10.1007/s12016-009-8130-5. Review.

PMID:
19440858
14.

Neurodevelopmental abnormalities associated with severe congenital neutropenia due to the R86X mutation in the HAX1 gene.

Ishikawa N, Okada S, Miki M, Shirao K, Kihara H, Tsumura M, Nakamura K, Kawaguchi H, Ohtsubo M, Yasunaga S, Matsubara K, Sako M, Hara J, Shiohara M, Kojima S, Sato T, Takihara Y, Kobayashi M.

J Med Genet. 2008 Dec;45(12):802-7. doi: 10.1136/jmg.2008.058297. Epub 2008 Jul 8.

PMID:
18611981
15.

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
16.

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.

17.

[Genetic diagnosis of a patient with non-syndromic variants of congenital neutropenia].

Xue SL, Chen Y, Qiu QC, Feng YF, Dai L, Qiao M, Wu DP.

Zhonghua Nei Ke Za Zhi. 2011 Nov;50(11):922-5. Chinese.

PMID:
22333123
18.

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
19.

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.

20.

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
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