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Items: 1 to 20 of 91

1.

Genetics and pathophysiology of severe congenital neutropenia syndromes unrelated to neutrophil elastase.

Boztug K, Klein C.

Hematol Oncol Clin North Am. 2013 Feb;27(1):43-60, vii. doi: 10.1016/j.hoc.2012.11.004. Epub 2012 Nov 27. Review.

PMID:
23351987
2.

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
3.

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
4.

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
5.

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.

6.

Congenital neutropenia.

Klein C.

Hematology Am Soc Hematol Educ Program. 2009:344-50. doi: 10.1182/asheducation-2009.1.344. Review.

PMID:
20008220
7.

[Research progress of pathogenic mechanism of congenital neutropenia].

Wei W, Zhu XF.

Zhonghua Er Ke Za Zhi. 2012 Nov;50(11):868-71. Review. Chinese. No abstract available.

PMID:
23302623
8.

Pathogenic mechanisms and clinical implications of congenital neutropenia syndromes.

Hauck F, Klein C.

Curr Opin Allergy Clin Immunol. 2013 Dec;13(6):596-606. doi: 10.1097/ACI.0000000000000014. Review.

PMID:
24145314
9.

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.

10.

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.

11.

[Granulopoeisis and leukemogenesis: lessons from congenital neutropenia].

Donadieu J, Beaupain B, Bellanné-Chantelot C.

Med Sci (Paris). 2008 Mar;24(3):284-9. doi: 10.1051/medsci/2008243284. Review. French.

12.

Kostmann syndrome or infantile genetic agranulocytosis, part two: Understanding the underlying genetic defects in severe congenital neutropenia.

Carlsson G, Melin M, Dahl N, Ramme KG, Nordenskjöld M, Palmblad J, Henter JI, Fadeel B.

Acta Paediatr. 2007 Jun;96(6):813-9. Review.

PMID:
17537008
13.

The many causes of severe congenital neutropenia.

Dale DC, Link DC.

N Engl J Med. 2009 Jan 1;360(1):3-5. doi: 10.1056/NEJMp0806821. No abstract available.

14.

Molecular basis and therapy of disorders associated with chronic neutropenia.

Stein SM, Dale DC.

Curr Allergy Asthma Rep. 2003 Sep;3(5):385-8. Review.

PMID:
12906773
15.

The role of apoptosis in the pathophysiology of chronic neutropenias associated with bone marrow failure.

Papadaki HA, Eliopoulos GD.

Cell Cycle. 2003 Sep-Oct;2(5):447-51. Review.

PMID:
12963840
16.

Severe congenital neutropenia: new genes explain an old disease.

Bohn G, Welte K, Klein C.

Curr Opin Rheumatol. 2007 Nov;19(6):644-50. Review.

PMID:
17917547
17.

Wiskott-Aldrich syndrome.

Notarangelo LD, Miao CH, Ochs HD.

Curr Opin Hematol. 2008 Jan;15(1):30-6. Review.

PMID:
18043243
18.

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.

19.

Genetic heterogeneity in severe congenital neutropenia: how many aberrant pathways can kill a neutrophil?

Schäffer AA, Klein C.

Curr Opin Allergy Clin Immunol. 2007 Dec;7(6):481-94. Review.

20.

Two novel activating mutations in the Wiskott-Aldrich syndrome protein result in congenital neutropenia.

Ancliff PJ, Blundell MP, Cory GO, Calle Y, Worth A, Kempski H, Burns S, Jones GE, Sinclair J, Kinnon C, Hann IM, Gale RE, Linch DC, Thrasher AJ.

Blood. 2006 Oct 1;108(7):2182-9. Epub 2006 Jun 27.

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