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Results: 1 to 20 of 206

1.
2.

Cytochrome b558-negative, autosomal recessive chronic granulomatous disease: two new mutations in the cytochrome b558 light chain of the NADPH oxidase (p22-phox).

de Boer M, de Klein A, Hossle JP, Seger R, Corbeel L, Weening RS, Roos D.

Am J Hum Genet. 1992 Nov;51(5):1127-35.

PMID:
1415254
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

A missense mutation in the neutrophil cytochrome b heavy chain in cytochrome-positive X-linked chronic granulomatous disease.

Dinauer MC, Curnutte JT, Rosen H, Orkin SH.

J Clin Invest. 1989 Dec;84(6):2012-6.

PMID:
2556453
[PubMed - indexed for MEDLINE]
Free PMC Article
4.
5.

Point mutation in the cytoplasmic domain of the neutrophil p22-phox cytochrome b subunit is associated with a nonfunctional NADPH oxidase and chronic granulomatous disease.

Dinauer MC, Pierce EA, Erickson RW, Muhlebach TJ, Messner H, Orkin SH, Seger RA, Curnutte JT.

Proc Natl Acad Sci U S A. 1991 Dec 15;88(24):11231-5.

PMID:
1763037
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

Missense mutations in the gp91-phox gene encoding cytochrome b558 in patients with cytochrome b positive and negative X-linked chronic granulomatous disease.

Kaneda M, Sakuraba H, Ohtake A, Nishida A, Kiryu C, Kakinuma K.

Blood. 1999 Mar 15;93(6):2098-104.

PMID:
10068684
[PubMed - indexed for MEDLINE]
Free Article
7.

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
[PubMed - indexed for MEDLINE]
8.

Molecular characterization of autosomal recessive chronic granulomatous disease caused by a defect of the nicotinamide adenine dinucleotide phosphate (reduced form) oxidase component p67-phox.

Patiño PJ, Rae J, Noack D, Erickson R, Ding J, de Olarte DG, Curnutte JT.

Blood. 1999 Oct 1;94(7):2505-14.

PMID:
10498624
[PubMed - indexed for MEDLINE]
Free Article
9.

Molecular genetics of chronic granulomatous disease.

Dinauer MC, Orkin SH.

Immunodefic Rev. 1988;1(1):55-69. Review.

PMID:
3078710
[PubMed - indexed for MEDLINE]
10.

Chronic granulomatous disease. Molecular genetics.

Dinauer MC, Orkin SH.

Hematol Oncol Clin North Am. 1988 Jun;2(2):225-40. Review.

PMID:
3292508
[PubMed - indexed for MEDLINE]
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
[PubMed - indexed for MEDLINE]
12.

A novel and unusual case of chronic granulomatous disease in a child with a homozygous 36-bp deletion in the CYBA gene (A22(0)) leading to the activation of a cryptic splice site in intron 4.

Stasia MJ, Bordigoni P, Martel C, Morel F.

Hum Genet. 2002 May;110(5):444-50. Epub 2002 Apr 9.

PMID:
12073015
[PubMed - indexed for MEDLINE]
13.

Mutations in the promoter region of the gene for gp91-phox in X-linked chronic granulomatous disease with decreased expression of cytochrome b558.

Newburger PE, Skalnik DG, Hopkins PJ, Eklund EA, Curnutte JT.

J Clin Invest. 1994 Sep;94(3):1205-11.

PMID:
8083361
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

A 40-base-pair duplication in the gp91-phox gene leading to X-linked chronic granulomatous disease.

Rabbani H, de Boer M, Ahlin A, Sundin U, Elinder G, Hammarström L, Palmblad J, Smith CI, Roos D.

Eur J Haematol. 1993 Oct;51(4):218-22.

PMID:
7694872
[PubMed - indexed for MEDLINE]
15.

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
[PubMed - indexed for MEDLINE]
16.

Point mutations in the beta-subunit of cytochrome b558 leading to X-linked chronic granulomatous disease.

Bolscher BG, de Boer M, de Klein A, Weening RS, Roos D.

Blood. 1991 Jun 1;77(11):2482-7.

PMID:
1710153
[PubMed - indexed for MEDLINE]
Free Article
17.

Autosomal recessive chronic granulomatous disease with absence of the 67-kD cytosolic NADPH oxidase component: identification of mutation and detection of carriers.

de Boer M, Hilarius-Stokman PM, Hossle JP, Verhoeven AJ, Graf N, Kenney RT, Seger R, Roos D.

Blood. 1994 Jan 15;83(2):531-6.

PMID:
8286749
[PubMed - indexed for MEDLINE]
Free Article
18.

Recombination events between the p47-phox gene and its highly homologous pseudogenes are the main cause of autosomal recessive chronic granulomatous disease.

Roesler J, Curnutte JT, Rae J, Barrett D, Patino P, Chanock SJ, Goerlach A.

Blood. 2000 Mar 15;95(6):2150-6.

PMID:
10706888
[PubMed - indexed for MEDLINE]
Free Article
19.

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
[PubMed - indexed for MEDLINE]
20.

Absence of both the 91kD and 22kD subunits of human neutrophil cytochrome b in two genetic forms of chronic granulomatous disease.

Parkos CA, Dinauer MC, Jesaitis AJ, Orkin SH, Curnutte JT.

Blood. 1989 May 1;73(6):1416-20.

PMID:
2713485
[PubMed - indexed for MEDLINE]
Free Article

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