de Boer M - Search Results

1

Extensive variation in gene copy number at the killer immunoglobulin-like receptor locus in humans.

Vendelbosch S, de Boer M, Gouw RA, Ho CK, Geissler J, Swelsen WT, Moorhouse MJ, Lardy NM, Roos D, van den Berg TK, Kuijpers TW. Vendelbosch S, et al. Among authors: de boer m. PLoS One. 2013 Jun 28;8(6):e67619. doi: 10.1371/journal.pone.0067619. Print 2013. PLoS One. 2013. PMID: 23840750 Free PMC article.

2

Genetic analysis of patients with leukocyte adhesion deficiency: genomic sequencing reveals otherwise undetectable mutations.

Roos D, Meischl C, de Boer M, Simsek S, Weening RS, Sanal O, Tezcan I, Güngör T, Law SK. Roos D, et al. Among authors: de boer m. Exp Hematol. 2002 Mar;30(3):252-61. doi: 10.1016/s0301-472x(01)00782-2. Exp Hematol. 2002. PMID: 11882363 Free article.

3

Prenatal diagnosis in two families with autosomal, p47(phox)-deficient chronic granulomatous disease due to a novel point mutation in NCF1.

de Boer M, Singh V, Dekker J, Di Rocco M, Goldblatt D, Roos D. de Boer M, et al. Prenat Diagn. 2002 Mar;22(3):235-40. doi: 10.1002/pd.296. Prenat Diagn. 2002. PMID: 11920901

4

Deletion of leucine 61 in glucose-6-phosphate dehydrogenase leads to chronic nonspherocytic anemia, granulocyte dysfunction, and increased susceptibility to infections.

van Bruggen R, Bautista JM, Petropoulou T, de Boer M, van Zwieten R, Gómez-Gallego F, Belohradsky BH, Hartwig NG, Stevens D, Mason PJ, Roos D. van Bruggen R, et al. Among authors: de boer m. Blood. 2002 Aug 1;100(3):1026-30. doi: 10.1182/blood.v100.3.1026. Blood. 2002. PMID: 12130518 Free article.

5

A donor splice site mutation in intron 1 of CYBA, leading to chronic granulomatous disease.

de Boer M, Hartl D, Wintergerst U, Belohradsky BH, Roos D. de Boer M, et al. Blood Cells Mol Dis. 2005 Nov-Dec;35(3):365-9. doi: 10.1016/j.bcmd.2005.08.002. Epub 2005 Sep 12. Blood Cells Mol Dis. 2005. PMID: 16157492

6

Neutrophil responsiveness to IgG, as determined by fixed ratios of mRNA levels for activating and inhibitory FcgammaRII (CD32), is stable over time and unaffected by cytokines.

van Mirre E, Breunis WB, Geissler J, Hack CE, de Boer M, Roos D, Kuijpers TW. van Mirre E, et al. Among authors: de boer m. Blood. 2006 Jul 15;108(2):584-90. doi: 10.1182/blood-2005-12-4997. Epub 2006 Mar 21. Blood. 2006. PMID: 16551965 Free article.

7

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. Roos D, et al. Among authors: de boer m. Hum Mutat. 2006 Dec;27(12):1218-29. doi: 10.1002/humu.20413. Hum Mutat. 2006. PMID: 16972229

8

Molecular basis of glutathione reductase deficiency in human blood cells.

Kamerbeek NM, van Zwieten R, de Boer M, Morren G, Vuil H, Bannink N, Lincke C, Dolman KM, Becker K, Schirmer RH, Gromer S, Roos D. Kamerbeek NM, et al. Among authors: de boer m. Blood. 2007 Apr 15;109(8):3560-6. doi: 10.1182/blood-2006-08-042531. Epub 2006 Dec 21. Blood. 2007. PMID: 17185460 Free article.

9

Copy number variation of the activating FCGR2C gene predisposes to idiopathic thrombocytopenic purpura.

Breunis WB, van Mirre E, Bruin M, Geissler J, de Boer M, Peters M, Roos D, de Haas M, Koene HR, Kuijpers TW. Breunis WB, et al. Among authors: de haas m, de boer m. Blood. 2008 Feb 1;111(3):1029-38. doi: 10.1182/blood-2007-03-079913. Epub 2007 Sep 7. Blood. 2008. PMID: 17827395 Free article.

10

High-throughput analysis of the C4 polymorphism by a combination of MLPA and isotype-specific ELISA's.

Wouters D, van Schouwenburg P, van der Horst A, de Boer M, Schooneman D, Kuijpers TW, Aarden LA, Hamann D. Wouters D, et al. Among authors: de boer m. Mol Immunol. 2009 Feb;46(4):592-600. doi: 10.1016/j.molimm.2008.07.028. Epub 2008 Dec 5. Mol Immunol. 2009. PMID: 19062096

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