de Boer M - Search Results

1

Hematologically important mutations: X-linked chronic granulomatous disease (third update).

Roos D, Kuhns DB, Maddalena A, Roesler J, Lopez JA, Ariga T, Avcin T, de Boer M, Bustamante J, Condino-Neto A, Di Matteo G, He J, Hill HR, Holland SM, Kannengiesser C, Köker MY, Kondratenko I, van Leeuwen K, Malech HL, Marodi L, Nunoi H, Stasia MJ, Ventura AM, Witwer CT, Wolach B, Gallin JI. Roos D, et al. Among authors: de boer m. Blood Cells Mol Dis. 2010 Oct 15;45(3):246-65. doi: 10.1016/j.bcmd.2010.07.012. Epub 2010 Aug 21. Blood Cells Mol Dis. 2010. PMID: 20729109 Free PMC article. Review.

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

Evidence consistent with human L1 retrotransposition in maternal meiosis I.

Brouha B, Meischl C, Ostertag E, de Boer M, Zhang Y, Neijens H, Roos D, Kazazian HH Jr. Brouha B, et al. Among authors: de boer m. Am J Hum Genet. 2002 Aug;71(2):327-36. doi: 10.1086/341722. Epub 2002 Jul 1. Am J Hum Genet. 2002. PMID: 12094329 Free PMC article.

5

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.

6

Unusual late presentation of X-linked chronic granulomatous disease in an adult female with a somatic mosaic for a novel mutation in CYBB.

Wolach B, Scharf Y, Gavrieli R, de Boer M, Roos D. Wolach B, et al. Among authors: de boer m. Blood. 2005 Jan 1;105(1):61-6. doi: 10.1182/blood-2004-02-0675. Epub 2004 Aug 12. Blood. 2005. PMID: 15308575 Free article.

7

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

8

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.

9

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

10

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.

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