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Results: 1 to 20 of 46

1.

Severe congenital neutropenia due to G6PC3 deficiency: early and delayed phenotype in two patients with two novel mutations.

Notarangelo L, Savoldi G, Cavagnini S, Bennato V, Vasile S, Pilotta A, Plebani A, Porta F.

Ital J Pediatr. 2014 Nov 14;40(1):80. [Epub ahead of print]

PMID:
25391451
[PubMed - as supplied by publisher]
Free PMC Article
2.

Current insights into inherited bone marrow failure syndromes.

Chung NG, Kim M.

Korean J Pediatr. 2014 Aug;57(8):337-44. doi: 10.3345/kjp.2014.57.8.337. Epub 2014 Aug 25. Review.

PMID:
25210520
[PubMed]
Free PMC Article
3.

Congenital defects in neutrophil dynamics.

Keszei M, Westerberg LS.

J Immunol Res. 2014;2014:303782. doi: 10.1155/2014/303782. Epub 2014 Aug 5.

PMID:
25165726
[PubMed - in process]
Free PMC Article
4.

Outcome and management of pregnancies in severe chronic neutropenia patients by the European Branch of the Severe Chronic Neutropenia International Registry.

Zeidler C, Grote UA, Nickel A, Brand B, Carlsson G, Cortesão E, Dufour C, Duhem C, Notheis G, Papadaki HA, Tamary H, Tjønnfjord GE, Tucci F, Van Droogenbroeck J, Vermylen C, Voglova J, Xicoy B, Welte K.

Haematologica. 2014 Aug;99(8):1395-402. doi: 10.3324/haematol.2013.099101. Epub 2014 Jul 4.

PMID:
24997149
[PubMed - in process]
Free PMC Article
5.

The SLC37 family of sugar-phosphate/phosphate exchangers.

Chou JY, Mansfield BC.

Curr Top Membr. 2014;73:357-82. doi: 10.1016/B978-0-12-800223-0.00010-4. Review.

PMID:
24745989
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

Evaluation and management of patients with isolated neutropenia.

Newburger PE, Dale DC.

Semin Hematol. 2013 Jul;50(3):198-206. doi: 10.1053/j.seminhematol.2013.06.010. Review.

PMID:
23953336
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

A clinical and molecular review of ubiquitous glucose-6-phosphatase deficiency caused by G6PC3 mutations.

Banka S, Newman WG.

Orphanet J Rare Dis. 2013 Jun 13;8:84. doi: 10.1186/1750-1172-8-84. Review.

PMID:
23758768
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

A congenital neutrophil defect syndrome associated with mutations in VPS45.

Vilboux T, Lev A, Malicdan MC, Simon AJ, Järvinen P, Racek T, Puchalka J, Sood R, Carrington B, Bishop K, Mullikin J, Huizing M, Garty BZ, Eyal E, Wolach B, Gavrieli R, Toren A, Soudack M, Atawneh OM, Babushkin T, Schiby G, Cullinane A, Avivi C, Polak-Charcon S, Barshack I, Amariglio N, Rechavi G, van der Werff ten Bosch J, Anikster Y, Klein C, Gahl WA, Somech R.

N Engl J Med. 2013 Jul 4;369(1):54-65. doi: 10.1056/NEJMoa1301296. Epub 2013 Jun 5.

PMID:
23738510
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

Survival and differentiation defects contribute to neutropenia in glucose-6-phosphatase-β (G6PC3) deficiency in a model of mouse neutrophil granulocyte differentiation.

Gautam S, Kirschnek S, Gentle IE, Kopiniok C, Henneke P, Häcker H, Malleret L, Belaaouaj A, Häcker G.

Cell Death Differ. 2013 Aug;20(8):1068-79. doi: 10.1038/cdd.2013.39. Epub 2013 May 17.

PMID:
23686134
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

The SLC37 family of phosphate-linked sugar phosphate antiporters.

Chou JY, Sik Jun H, Mansfield BC.

Mol Aspects Med. 2013 Apr-Jun;34(2-3):601-11. doi: 10.1016/j.mam.2012.05.010. Review.

PMID:
23506893
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

Animal models of human granulocyte diseases.

Schäffer AA, Klein C.

Hematol Oncol Clin North Am. 2013 Feb;27(1):129-48, ix. doi: 10.1016/j.hoc.2012.10.005. Epub 2012 Oct 31. Review.

PMID:
23351993
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

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.

PMID:
23351986
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

Growth factor independence 1 (Gfi1) regulates cell-fate decision of a bipotential granulocytic-monocytic precursor defined by expression of Gfi1 and CD48.

Vassen L, Dührsen U, Kosan C, Zeng H, Möröy T.

Am J Blood Res. 2012;2(4):228-42. Epub 2012 Nov 25.

PMID:
23226623
[PubMed]
Free PMC Article
14.

Adult siblings with homozygous G6PC3 mutations expand our understanding of the severe congenital neutropenia type 4 (SCN4) phenotype.

Fernandez BA, Green JS, Bursey F, Barrett B, MacMillan A, McColl S, Fernandez S, Rahman P, Mahoney K, Pereira SL, Scherer SW, Boycott KM, Woods MO; FORGE Canada Consortium.

BMC Med Genet. 2012 Nov 21;13:111. doi: 10.1186/1471-2350-13-111.

PMID:
23171239
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

Genetic Susceptibility to Fungal Infections in Humans.

Lionakis MS.

Curr Fungal Infect Rep. 2012 Mar 1;6(1):11-22. Epub 2011 Dec 15.

PMID:
23087779
[PubMed]
Free PMC Article
16.

Cardiac and renal malformations in a patient with sepsis and severe congenital neutropenia.

Eghbali A, Eshghi P, Malek F, Rezaei N.

Iran J Pediatr. 2010 Jun;20(2):225-8.

PMID:
23056709
[PubMed]
Free PMC Article
17.

History of primary immunodeficiency diseases in iran.

Aghamohammadi A, Moin M, Rezaei N.

Iran J Pediatr. 2010 Mar;20(1):16-34.

PMID:
23056678
[PubMed]
Free PMC Article
18.

Neutrophil depletion impairs natural killer cell maturation, function, and homeostasis.

Jaeger BN, Donadieu J, Cognet C, Bernat C, Ordoñez-Rueda D, Barlogis V, Mahlaoui N, Fenis A, Narni-Mancinelli E, Beaupain B, Bellanné-Chantelot C, Bajénoff M, Malissen B, Malissen M, Vivier E, Ugolini S.

J Exp Med. 2012 Mar 12;209(3):565-80. doi: 10.1084/jem.20111908. Epub 2012 Mar 5.

PMID:
22393124
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

The phenotype of human STK4 deficiency.

Abdollahpour H, Appaswamy G, Kotlarz D, Diestelhorst J, Beier R, Schäffer AA, Gertz EM, Schambach A, Kreipe HH, Pfeifer D, Engelhardt KR, Rezaei N, Grimbacher B, Lohrmann S, Sherkat R, Klein C.

Blood. 2012 Apr 12;119(15):3450-7. doi: 10.1182/blood-2011-09-378158. Epub 2012 Jan 31.

PMID:
22294732
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

Glucose-6-phosphatase-β, implicated in a congenital neutropenia syndrome, is essential for macrophage energy homeostasis and functionality.

Jun HS, Cheung YY, Lee YM, Mansfield BC, Chou JY.

Blood. 2012 Apr 26;119(17):4047-55. doi: 10.1182/blood-2011-09-377820. Epub 2012 Jan 12.

PMID:
22246029
[PubMed - indexed for MEDLINE]
Free PMC Article

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