Roos D - Search Results

1

Genetic Characteristics, Infectious, and Noninfectious Manifestations of 32 Patients with Chronic Granulomatous Disease.

Aygun D, Koker MY, Nepesov S, Koker N, van Leeuwen K, de Boer M, Kıykım A, Ozsoy S, Cokugras H, Kuijpers T, Roos D, Camcıoglu Y. Aygun D, et al. Among authors: roos d. Int Arch Allergy Immunol. 2020;181(7):540-550. doi: 10.1159/000507366. Epub 2020 Jun 8. Int Arch Allergy Immunol. 2020. PMID: 32512560

2

Hematologically important mutations: the autosomal recessive forms of chronic granulomatous disease (second update).

Roos D, Kuhns DB, Maddalena A, Bustamante J, Kannengiesser C, de Boer M, van Leeuwen K, Köker MY, Wolach B, Roesler J, Malech HL, Holland SM, Gallin JI, Stasia MJ. Roos D, et al. Blood Cells Mol Dis. 2010 Apr 15;44(4):291-9. doi: 10.1016/j.bcmd.2010.01.009. Epub 2010 Feb 18. Blood Cells Mol Dis. 2010. PMID: 20167518 Free PMC article. Review.

3

Different unequal cross-over events between NCF1 and its pseudogenes in autosomal p47(phox)-deficient chronic granulomatous disease.

Hayrapetyan A, Dencher PC, van Leeuwen K, de Boer M, Roos D. Hayrapetyan A, et al. Among authors: roos d. Biochim Biophys Acta. 2013 Oct;1832(10):1662-72. doi: 10.1016/j.bbadis.2013.05.001. Epub 2013 May 18. Biochim Biophys Acta. 2013. PMID: 23688784 Free article.

4

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. Köker MY, et al. Among authors: 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. J Allergy Clin Immunol. 2013. PMID: 23910690

5

Activation of cryptic splice sites in three patients with chronic granulomatous disease.

de Boer M, van Leeuwen K, Hauri-Hohl M, Roos D. de Boer M, et al. Among authors: roos d. Mol Genet Genomic Med. 2019 Sep;7(9):e854. doi: 10.1002/mgg3.854. Epub 2019 Jul 30. Mol Genet Genomic Med. 2019. PMID: 31364312 Free PMC article.

6

Mutation in an exonic splicing enhancer site causing chronic granulomatous disease.

de Boer M, van Leeuwen K, Geissler J, Belohradsky BH, Kuijpers TW, Roos D. de Boer M, et al. Among authors: roos d. Blood Cells Mol Dis. 2017 Jul;66:50-57. doi: 10.1016/j.bcmd.2017.08.012. Epub 2017 Aug 18. Blood Cells Mol Dis. 2017. PMID: 28886419 Free article.

7

Analysis of Chronic Granulomatous Disease in the Kavkazi Population in Israel Reveals Phenotypic Heterogeneity in Patients with the Same NCF1 mutation (c.579G>A).

Wolach B, Gavrieli R, de Boer M, van Leeuwen K, Wolach O, Grisaru-Soen G, Broides A, Etzioni A, Somech R, Roos D. Wolach B, et al. Among authors: roos d. J Clin Immunol. 2018 Feb;38(2):193-203. doi: 10.1007/s10875-018-0475-1. Epub 2018 Feb 6. J Clin Immunol. 2018. PMID: 29411231

8

Characterization of 4 New Mutations in the CYBB Gene in 10 Iranian Families With X-linked Chronic Granulomatous Disease.

Teimourian S, Sazgara F, de Boer M, van Leeuwen K, Roos D, Lashkary S, Chavoshzadeh Z, Nabavi M, Bemanian MH, Isaian A. Teimourian S, et al. Among authors: roos d. J Pediatr Hematol Oncol. 2018 Jul;40(5):e268-e272. doi: 10.1097/MPH.0000000000001189. J Pediatr Hematol Oncol. 2018. PMID: 29702544

9

Clinical and Immunological Characteristics of 63 Patients with Chronic Granulomatous Disease: Hacettepe Experience.

Akar HT, Esenboga S, Cagdas D, Halacli SO, Ozbek B, van Leeuwen K, de Boer M, Tan CS, Köker Y, Roos D, Tezcan I. Akar HT, et al. Among authors: roos d. J Clin Immunol. 2021 Jul;41(5):992-1003. doi: 10.1007/s10875-021-01002-w. Epub 2021 Feb 24. J Clin Immunol. 2021. PMID: 33629196

10

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

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