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Results: 1 to 20 of 122

1.

Prenatal diagnosis of X-linked chronic granulomatous disease by percutaneous umbilical blood sampling.

Sun J, Wang Y, Liu D, Yu Y, Wang J, Ying W, Wang X.

Scand J Immunol. 2012 Nov;76(5):512-8. doi: 10.1111/j.1365-3083.2012.02772.x.

PMID:
22924737
[PubMed - indexed for MEDLINE]
2.

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]
3.

Prenatal diagnosis of chronic granulomatous disease in a male fetus.

Yavuz Köker M, Metin A, Ozgür TT, de Boer M, Roos D.

Iran J Allergy Asthma Immunol. 2009 Mar;8(1):57-61. doi: 08.01/ijaai.5761.

PMID:
19279361
[PubMed - indexed for MEDLINE]
Free Article
4.

X-linked chronic granulomatous disease in a male child with an X-CGD carrier, Klinefelter brother.

Gill HK, Kumar HC, Cheng CK, Ming CC, Nallusamy R, Yusoff NM, Mohamad SB, Ripen AM, Dhaliwal JS, Murad S.

Asian Pac J Allergy Immunol. 2013 Jun;31(2):167-72. doi: 10.12932/AP0274.31.2.2013.

PMID:
23859418
[PubMed - indexed for MEDLINE]
Free Article
5.

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]
6.

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]
7.

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
8.

Characterization of six novel mutations in the CYBB gene leading to different sub-types of X-linked chronic granulomatous disease.

Stasia MJ, Bordigoni P, Floret D, Brion JP, Bost-Bru C, Michel G, Gatel P, Durant-Vital D, Voelckel MA, Li XJ, Guillot M, Maquet E, Martel C, Morel F.

Hum Genet. 2005 Jan;116(1-2):72-82. Epub 2004 Nov 6.

PMID:
15538631
[PubMed - indexed for MEDLINE]
9.

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
10.

Skewing of X-chromosome inactivation in three generations of carriers with X-linked chronic granulomatous disease within one family.

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

Eur J Clin Invest. 2006 Apr;36(4):257-64.

PMID:
16620288
[PubMed - indexed for MEDLINE]
11.

Mutation at histidine 338 of gp91(phox) depletes FAD and affects expression of cytochrome b558 of the human NADPH oxidase.

Yoshida LS, Saruta F, Yoshikawa K, Tatsuzawa O, Tsunawaki S.

J Biol Chem. 1998 Oct 23;273(43):27879-86.

PMID:
9774399
[PubMed - indexed for MEDLINE]
Free Article
12.

Molecular analysis of chronic granulomatous disease caused by defects in gp91-phox.

Patiño PJ, Perez JE, Lopez JA, Condino-Neto A, Grumach AS, Botero JH, Curnutte JT, García de Olarte D.

Hum Mutat. 1999;13(1):29-37.

PMID:
9888386
[PubMed - indexed for MEDLINE]
13.

X-linked chronic granulomatous disease: first report of mutations in patients of Argentina.

Barese C, Copelli S, Zandomeni R, Oleastro M, Zelazko M, Rivas EM.

J Pediatr Hematol Oncol. 2004 Oct;26(10):656-60.

PMID:
15454837
[PubMed - indexed for MEDLINE]
14.

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]
15.

An in-frame triplet deletion within the gp91-phox gene in an adult X-linked chronic granulomatous disease patient with residual NADPH-oxidase activity.

Jendrossek V, Ritzel A, Neubauer B, Heyden S, Gahr M.

Eur J Haematol. 1997 Feb;58(2):78-85.

PMID:
9111587
[PubMed - indexed for MEDLINE]
16.

X-linked chronic granulomatous disease (CGD) caused by an intra-exonic splice mutation (CYBB exon 3, c.262G->A) is mimicking juvenile sarcoidosis.

Brunner J, Dockter G, Rösen-Wolff A, Roesler J.

Clin Exp Rheumatol. 2007 Mar-Apr;25(2):336-8.

PMID:
17543165
[PubMed - indexed for MEDLINE]
17.

Third-generation, self-inactivating gp91(phox) lentivector corrects the oxidase defect in NOD/SCID mouse-repopulating peripheral blood-mobilized CD34+ cells from patients with X-linked chronic granulomatous disease.

Roesler J, Brenner S, Bukovsky AA, Whiting-Theobald N, Dull T, Kelly M, Civin CI, Malech HL.

Blood. 2002 Dec 15;100(13):4381-90. Epub 2002 Aug 1.

PMID:
12393624
[PubMed - indexed for MEDLINE]
Free Article
18.

X-Linked chronic granulomatous disease: mutations in the CYBB gene encoding the gp91-phox component of respiratory-burst oxidase.

Rae J, Newburger PE, Dinauer MC, Noack D, Hopkins PJ, Kuruto R, Curnutte JT.

Am J Hum Genet. 1998 Jun;62(6):1320-31.

PMID:
9585602
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

Characterization of 17 new cases of X-linked chronic granulomatous disease with seven novel mutations in the CYBB gene.

von Goessel H, Hossle JP, Seger R, Gungor T.

Exp Hematol. 2006 Apr;34(4):528-35.

PMID:
16569599
[PubMed - indexed for MEDLINE]
20.

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