Roos D - Search Results

1

Functional and genetic characterization of two extremely rare cases of Williams-Beuren syndrome associated with chronic granulomatous disease.

Stasia MJ, Mollin M, Martel C, Satre V, Coutton C, Amblard F, Vieville G, van Montfrans JM, Boelens JJ, Veenstra-Knol HE, van Leeuwen K, de Boer M, Brion JP, Roos D. Stasia MJ, et al. Among authors: roos d. Eur J Hum Genet. 2013 Oct;21(10):1079-84. doi: 10.1038/ejhg.2012.310. Epub 2013 Jan 23. Eur J Hum Genet. 2013. PMID: 23340515 Free PMC article.

2

Rare duplication or deletion of exons 6, 7 and 8 in CYBB leading to X-linked chronic granulomatous disease in two patients from different families.

Stasia MJ, van Leeuwen K, de Boer M, Martel C, Mollin M, Thuret I, Michel G, Hanson C, Augustine NH, Coutton C, Satre V, Wittwer CT, Hill H, Roos D. Stasia MJ, et al. Among authors: roos d. J Clin Immunol. 2012 Aug;32(4):653-62. doi: 10.1007/s10875-012-9667-2. Epub 2012 Mar 2. J Clin Immunol. 2012. PMID: 22382877

3

Molecular basis of autosomal recessive chronic granulomatous disease in iran.

Teimourian S, de Boer M, Roos D. Teimourian S, et al. Among authors: roos d. J Clin Immunol. 2010 Jul;30(4):587-92. doi: 10.1007/s10875-010-9421-6. Epub 2010 Apr 21. J Clin Immunol. 2010. PMID: 20407811

4

Hematologically important mutations: The autosomal forms of chronic granulomatous disease (third update).

Roos D, van Leeuwen K, Hsu AP, Priel DL, Begtrup A, Brandon R, Rawat A, Vignesh P, Madkaikar M, Stasia MJ, Bakri FG, de Boer M, Roesler J, Köker N, Köker MY, Jakobsen M, Bustamante J, Garcia-Morato MB, Shephard JLV, Cagdas D, Tezcan I, Sherkat R, Mortaz E, Fayezi A, Shahrooei M, Wolach B, Blancas-Galicia L, Kanegane H, Kawai T, Condino-Neto A, Vihinen M, Zerbe CS, Holland SM, Malech HL, Gallin JI, Kuhns DB. Roos D, et al. Blood Cells Mol Dis. 2021 Dec;92:102596. doi: 10.1016/j.bcmd.2021.102596. Epub 2021 Jul 28. Blood Cells Mol Dis. 2021. PMID: 34547651

5

Molecular diagnosis of chronic granulomatous disease.

Roos D, de Boer M. Roos D, et al. 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 novel mutation in NCF1 in an adult CGD patient with a liver abscess as first presentation.

van de Vosse E, van Wengen A, van Geelen JA, de Boer M, Roos D, van Dissel JT. van de Vosse E, et al. Among authors: roos d. J Hum Genet. 2009 Jun;54(6):313-6. doi: 10.1038/jhg.2009.24. Epub 2009 Mar 27. J Hum Genet. 2009. PMID: 19329991

7

Identification of allele-specific p22-phox mutations in a compound heterozygous patient with chronic granulomatous disease by mismatch PCR and restriction enzyme analysis.

Hossle JP, de Boer M, Seger RA, Roos D. Hossle JP, et al. Among authors: roos d. Hum Genet. 1994 Apr;93(4):437-42. doi: 10.1007/BF00201671. Hum Genet. 1994. PMID: 8168815

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: roos d. Exp Hematol. 2001 Nov;29(11):1319-25. doi: 10.1016/s0301-472x(01)00731-7. Exp Hematol. 2001. PMID: 11698128 Free article.

9

Retrotransposable genetic elements causing neutrophil defects.

Roos D, de Boer M. Roos D, et al. Eur J Clin Invest. 2018 Nov;48 Suppl 2:e12953. doi: 10.1111/eci.12953. Epub 2018 Jun 14. Eur J Clin Invest. 2018. PMID: 29774526 Review.

10

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. Among authors: roos d. Prenat Diagn. 2002 Mar;22(3):235-40. doi: 10.1002/pd.296. Prenat Diagn. 2002. PMID: 11920901

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