de Boer M - Search Results

1

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. Köker MY, et al. Among authors: de boer m. Eur J Clin Invest. 2009 Oct;39(10):942-51. doi: 10.1111/j.1365-2362.2009.02195.x. Epub 2009 Jul 17. Eur J Clin Invest. 2009. PMID: 19624736

2

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. Köker MY, et al. Among authors: de boer m. Eur J Clin Invest. 2006 Apr;36(4):257-64. doi: 10.1111/j.1365-2362.2006.01619.x. Eur J Clin Invest. 2006. PMID: 16620288

3

Mutations of chronic granulomatous disease in Turkish families.

Köker MY, Sanal O, De Boer M, Tezcan I, Metin A, Ersoy F, Roos D. Köker MY, et al. Among authors: de boer m. Eur J Clin Invest. 2007 Jul;37(7):589-95. doi: 10.1111/j.1365-2362.2007.01828.x. Eur J Clin Invest. 2007. PMID: 17576211

4

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. Köker MY, et al. Among authors: de boer m. Eur J Clin Invest. 2009 Apr;39(4):311-9. doi: 10.1111/j.1365-2362.2009.02093.x. Eur J Clin Invest. 2009. PMID: 19292887

5

Molecular diagnosis of chronic granulomatous disease.

Roos D, de Boer M. Roos D, et al. Among authors: de boer m. Clin Exp Immunol. 2014 Feb;175(2):139-49. doi: 10.1111/cei.12202. Clin Exp Immunol. 2014. PMID: 24016250 Free PMC article. Review.

6

A point mutation in gp91-phox of cytochrome b558 of the human NADPH oxidase leading to defective translocation of the cytosolic proteins p47-phox and p67-phox.

Leusen JH, de Boer M, Bolscher BG, Hilarius PM, Weening RS, Ochs HD, Roos D, Verhoeven AJ. Leusen JH, et al. Among authors: de boer m. J Clin Invest. 1994 May;93(5):2120-6. doi: 10.1172/JCI117207. J Clin Invest. 1994. PMID: 8182143 Free PMC article.

7

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. Weening RS, et al. Among authors: de boer m. Clin Exp Immunol. 2000 Dec;122(3):410-7. doi: 10.1046/j.1365-2249.2000.01405.x. Clin Exp Immunol. 2000. PMID: 11122248 Free PMC article.

8

Gene-scan method for the recognition of carriers and patients with p47(phox)-deficient autosomal recessive chronic granulomatous disease.

Dekker J, de Boer M, Roos D. Dekker J, et al. Among authors: de boer m. Exp Hematol. 2001 Nov;29(11):1319-25. doi: 10.1016/s0301-472x(01)00731-7. Exp Hematol. 2001. PMID: 11698128 Free article.

9

Cytochrome b deficiency in an autosomal form of chronic granulomatous disease. A third form of chronic granulomatous disease recognized by monocyte hybridization.

Weening RS, Corbeel L, de Boer M, Lutter R, van Zwieten R, Hamers MN, Roos D. Weening RS, et al. Among authors: de boer m. J Clin Invest. 1985 Mar;75(3):915-20. doi: 10.1172/JCI111792. J Clin Invest. 1985. PMID: 3980731 Free PMC article.

10

Somatic triple mosaicism in a carrier of X-linked chronic granulomatous disease.

de Boer M, Bakker E, Van Lierde S, Roos D. de Boer M, et al. Blood. 1998 Jan 1;91(1):252-7. Blood. 1998. PMID: 9414292 Free article.

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