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Items: 1 to 20 of 562

1.

Autosomal recessive chronic granulomatous disease caused by novel mutations in NCF-2, the gene encoding the p67-phox component of phagocyte NADPH oxidase.

Noack D, Rae J, Cross AR, Muñoz J, Salmen S, Mendoza JA, Rossi N, Curnutte JT, Heyworth PG.

Hum Genet. 1999 Nov;105(5):460-7.

PMID:
10598813
3.

Molecular analysis of 9 new families with chronic granulomatous disease caused by mutations in CYBA, the gene encoding p22(phox).

Rae J, Noack D, Heyworth PG, Ellis BA, Curnutte JT, Cross AR.

Blood. 2000 Aug 1;96(3):1106-12.

4.

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
5.

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
6.

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.

7.
8.

[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
9.

Molecular analysis of four cases of chronic granulomatous disease caused by defects in NCF-2: the gene encoding the p67-phox.

Badalzadeh M, Fattahi F, Fazlollahi MR, Tajik S, Bemanian MH, Behmanesh F, Movahedi M, Houshmand M, Pourpak Z.

Iran J Allergy Asthma Immunol. 2012 Dec;11(4):340-4. doi: 011.04/ijaai.340344.

10.

Four different NCF2 mutations in six families from Turkey and an overview of NCF2 gene mutations.

Köker MY, Sanal O, van Leeuwen K, de Boer M, Metin A, Patiroğlu T, Ozgür TT, Tezcan I, Roos D.

Eur J Clin Invest. 2009 Oct;39(10):942-51. doi: 10.1111/j.1365-2362.2009.02195.x. Epub 2009 Jul 17.

PMID:
19624736
11.

Six different CYBA mutations including three novel mutations in ten families from Turkey, resulting in autosomal recessive chronic granulomatous disease.

Köker MY, van Leeuwen K, de Boer M, Celmeli F, Metin A, Ozgür TT, Tezcan I, Sanal O, Roos D.

Eur J Clin Invest. 2009 Apr;39(4):311-9. doi: 10.1111/j.1365-2362.2009.02093.x.

PMID:
19292887
12.

Chronic granulomatous disease caused by mutations other than the common GT deletion in NCF1, the gene encoding the p47phox component of the phagocyte NADPH oxidase.

Roos D, de Boer M, Köker MY, Dekker J, Singh-Gupta V, Ahlin A, Palmblad J, Sanal O, Kurenko-Deptuch M, Jolles S, Wolach B.

Hum Mutat. 2006 Dec;27(12):1218-29.

PMID:
16972229
13.
14.

Disturbed interaction of p21-rac with mutated p67-phox causes chronic granulomatous disease.

Leusen JH, de Klein A, Hilarius PM, Ahlin A, Palmblad J, Smith CI, Diekmann D, Hall A, Verhoeven AJ, Roos D.

J Exp Med. 1996 Oct 1;184(4):1243-9.

15.

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
16.

Genetic studies of three Japanese patients with p22-phox-deficient chronic granulomatous disease: detection of a possible common mutant CYBA allele in Japan and a genotype-phenotype correlation in these patients.

Yamada M, Ariga T, Kawamura N, Ohtsu M, Imajoh-Ohmi S, Ohshika E, Tatsuzawa O, Kobayashi K, Sakiyama Y.

Br J Haematol. 2000 Mar;108(3):511-7.

PMID:
10759707
17.

Mutations of chronic granulomatous disease in Turkish families.

Köker MY, Sanal O, De Boer M, Tezcan I, Metin A, Ersoy F, Roos D.

Eur J Clin Invest. 2007 Jul;37(7):589-95.

PMID:
17576211
18.
19.

Characterization of six novel mutations in CYBA: the gene causing autosomal recessive chronic granulomatous disease.

Teimourian S, Zomorodian E, Badalzadeh M, Pouya A, Kannengiesser C, Mansouri D, Cheraghi T, Parvaneh N.

Br J Haematol. 2008 Jun;141(6):848-51. doi: 10.1111/j.1365-2141.2008.07148.x. Epub 2008 Apr 18.

PMID:
18422995
20.

Mutational analysis of patients with p47-phox-deficient chronic granulomatous disease: The significance of recombination events between the p47-phox gene (NCF1) and its highly homologous pseudogenes.

Vázquez N, Lehrnbecher T, Chen R, Christensen BL, Gallin JI, Malech H, Holland S, Zhu S, Chanock SJ.

Exp Hematol. 2001 Feb;29(2):234-43.

PMID:
11166463

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