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Results: 1 to 20 of 105

1.

Evolutionary dynamics of the human NADPH oxidase genes CYBB, CYBA, NCF2, and NCF4: functional implications.

Tarazona-Santos E, Machado M, Magalhães WC, Chen R, Lyon F, Burdett L, Crenshaw A, Fabbri C, Pereira L, Pinto L, Redondo RA, Sestanovich B, Yeager M, Chanock SJ.

Mol Biol Evol. 2013 Sep;30(9):2157-67. doi: 10.1093/molbev/mst119. Epub 2013 Jul 2.

PMID:
23821607
[PubMed - indexed for MEDLINE]
2.

Clinical, functional, and genetic characterization of chronic granulomatous disease in 89 Turkish patients.

Köker MY, Camcıoğlu Y, van Leeuwen K, Kılıç SŞ, Barlan I, Yılmaz M, Metin A, de Boer M, Avcılar H, Patıroğlu T, Yıldıran A, Yeğin O, Tezcan I, Sanal Ö, Roos D.

J Allergy Clin Immunol. 2013 Nov;132(5):1156-1163.e5. doi: 10.1016/j.jaci.2013.05.039. Epub 2013 Jul 31.

PMID:
23910690
[PubMed - indexed for MEDLINE]
3.

Hematologically important mutations: the autosomal recessive forms of chronic granulomatous disease (second update).

Roos D, Kuhns DB, Maddalena A, Bustamante J, Kannengiesser C, de Boer M, van Leeuwen K, Köker MY, Wolach B, Roesler J, Malech HL, Holland SM, Gallin JI, Stasia MJ.

Blood Cells Mol Dis. 2010 Apr 15;44(4):291-9. doi: 10.1016/j.bcmd.2010.01.009. Epub 2010 Feb 18. Review.

PMID:
20167518
[PubMed - indexed for MEDLINE]
4.

Molecular basis of autosomal recessive chronic granulomatous disease in iran.

Teimourian S, de Boer M, Roos D.

J Clin Immunol. 2010 Jul;30(4):587-92. doi: 10.1007/s10875-010-9421-6. Epub 2010 Apr 21.

PMID:
20407811
[PubMed - indexed for MEDLINE]
5.

Four novel mutations in the gene encoding gp91-phox of human NADPH oxidase: consequences for oxidase assembly.

Leusen JH, Meischl C, Eppink MH, Hilarius PM, de Boer M, Weening RS, Ahlin A, Sanders L, Goldblatt D, Skopczynska H, Bernatowska E, Palmblad J, Verhoeven AJ, van Berkel WJ, Roos D.

Blood. 2000 Jan 15;95(2):666-73.

PMID:
10627478
[PubMed - indexed for MEDLINE]
Free Article
6.

A new genetic subgroup of chronic granulomatous disease with autosomal recessive mutations in p40 phox and selective defects in neutrophil NADPH oxidase activity.

Matute JD, Arias AA, Wright NA, Wrobel I, Waterhouse CC, Li XJ, Marchal CC, Stull ND, Lewis DB, Steele M, Kellner JD, Yu W, Meroueh SO, Nauseef WM, Dinauer MC.

Blood. 2009 Oct 8;114(15):3309-15. doi: 10.1182/blood-2009-07-231498. Epub 2009 Aug 19.

PMID:
19692703
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

[Molecular aspects of chronic granulomatous disease. "the NADPH oxidase complex"].

Morel F.

Bull Acad Natl Med. 2007 Feb;191(2):377-90; discussion 390-2. Review. French.

PMID:
17969555
[PubMed - indexed for MEDLINE]
8.

Functional analysis of two-amino acid substitutions in gp91 phox in a patient with X-linked flavocytochrome b558-positive chronic granulomatous disease by means of transgenic PLB-985 cells.

Bionda C, Li XJ, van Bruggen R, Eppink M, Roos D, Morel F, Stasia MJ.

Hum Genet. 2004 Oct;115(5):418-27. Epub 2004 Aug 24.

PMID:
15338276
[PubMed - indexed for MEDLINE]
9.

Molecular epidemiology of chronic granulomatous disease in a series of 80 kindreds: identification of 31 novel mutations.

Kannengiesser C, Gérard B, El Benna J, Henri D, Kroviarski Y, Chollet-Martin S, Gougerot-Pocidalo MA, Elbim C, Grandchamp B.

Hum Mutat. 2008 Sep;29(9):E132-49. doi: 10.1002/humu.20820.

PMID:
18546332
[PubMed - indexed for MEDLINE]
10.

Genetical analysis of all Danish patients diagnosed with chronic granulomatous disease.

Jakobsen MA, Katzenstein TL, Valerius NH, Roos D, Fisker N, Mogensen TH, Jensen PØ, Barington T.

Scand J Immunol. 2012 Nov;76(5):505-11. doi: 10.1111/j.1365-3083.2012.02771.x.

PMID:
22924696
[PubMed - indexed for MEDLINE]
11.

CYBB, an NADPH-oxidase gene: restricted diversity in humans and evidence for differential long-term purifying selection on transmembrane and cytosolic domains.

Tarazona-Santos E, Bernig T, Burdett L, Magalhaes WC, Fabbri C, Liao J, Redondo RA, Welch R, Yeager M, Chanock SJ.

Hum Mutat. 2008 May;29(5):623-32. doi: 10.1002/humu.20667.

PMID:
18278805
[PubMed - indexed for MEDLINE]
12.

Diagnostic paradigm for evaluation of male patients with chronic granulomatous disease, based on the dihydrorhodamine 123 assay.

Jirapongsananuruk O, Malech HL, Kuhns DB, Niemela JE, Brown MR, Anderson-Cohen M, Fleisher TA.

J Allergy Clin Immunol. 2003 Feb;111(2):374-9.

PMID:
12589359
[PubMed - indexed for MEDLINE]
13.

Genetic and biochemical background of chronic granulomatous disease.

Jurkowska M, Bernatowska E, Bal J.

Arch Immunol Ther Exp (Warsz). 2004 Mar-Apr;52(2):113-20. Review.

PMID:
15179325
[PubMed - indexed for MEDLINE]
14.

Statistical and mutational analysis of chronic granulomatous disease in Japan with special reference to gp91-phox and p22-phox deficiency.

Ishibashi F, Nunoi H, Endo F, Matsuda I, Kanegasaki S.

Hum Genet. 2000 May;106(5):473-81.

PMID:
10914676
[PubMed - indexed for MEDLINE]
15.

Clinical, functional and genetic analysis of twenty-four patients with chronic granulomatous disease - identification of eight novel mutations in CYBB and NCF2 genes.

Martel C, Mollin M, Beaumel S, Brion JP, Coutton C, Satre V, Vieville G, Callanan M, Lefebvre C, Salmon A, Pagnier A, Plantaz D, Bost-Bru C, Eitenschenck L, Durieu I, Floret D, Galambrun C, Chambost H, Michel G, Stephan JL, Hermine O, Blanche S, Blot N, Rubié H, Pouessel G, Drillon-Haus S, Conrad B, Posfay-Barbe KM, Havlicekova Z, Voskresenky-Baricic T, Jadranka K, Arriazu MC, Garcia LA, Sfaihi L, Bordigoni P, Stasia MJ.

J Clin Immunol. 2012 Oct;32(5):942-58. doi: 10.1007/s10875-012-9698-8. Epub 2012 May 5. Erratum in: J Clin Immunol. 2012 Oct;32(5):959-60. Mansour, Lamia Sfaihi Ben [corrected to Sfaihi, Lamia].

PMID:
22562447
[PubMed - indexed for MEDLINE]
16.

Point mutations in the promoter region of the CYBB gene leading to mild chronic granulomatous disease.

Weening RS, De Boer M, Kuijpers TW, Neefjes VM, Hack WW, Roos D.

Clin Exp Immunol. 2000 Dec;122(3):410-7.

PMID:
11122248
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

Residual NADPH oxidase and survival in chronic granulomatous disease.

Kuhns DB, Alvord WG, Heller T, Feld JJ, Pike KM, Marciano BE, Uzel G, DeRavin SS, Priel DA, Soule BP, Zarember KA, Malech HL, Holland SM, Gallin JI.

N Engl J Med. 2010 Dec 30;363(27):2600-10. doi: 10.1056/NEJMoa1007097.

PMID:
21190454
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

Identification and functional characterization of two novel mutations in the α-helical loop (residues 484-503) of CYBB/gp91(phox) resulting in the rare X91(+) variant of chronic granulomatous disease.

Boog B, Quach A, Costabile M, Smart J, Quinn P, Singh H, Gold M, Booker G, Choo S, Hii CS, Ferrante A.

Hum Mutat. 2012 Mar;33(3):471-5. doi: 10.1002/humu.22003. Epub 2012 Jan 3.

PMID:
22125116
[PubMed - indexed for MEDLINE]
19.

Two X-linked chronic granulomatous disease patients with unusual NADPH oxidase properties.

Wolach B, Broides A, Zeeli T, Gavrieli R, de Boer M, van Leeuwen K, Levy J, Roos D.

J Clin Immunol. 2011 Aug;31(4):560-6. doi: 10.1007/s10875-011-9537-3. Epub 2011 May 21.

PMID:
21604087
[PubMed - indexed for MEDLINE]
20.

Genetic and mutational heterogeneity of autosomal recessive chronic granulomatous disease in Tunisia.

El Kares R, Barbouche MR, Elloumi-Zghal H, Bejaoui M, Chemli J, Mellouli F, Tebib N, Abdelmoula MS, Boukthir S, Fitouri Z, M'Rad S, Bouslama K, Touiri H, Abdelhak S, Dellagi MK.

J Hum Genet. 2006;51(10):887-95. Epub 2006 Aug 26.

PMID:
16937026
[PubMed - indexed for MEDLINE]

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