Arkesteijn SG - Search Results

1

Codon 24 (TAT>TAG) and codon 32 (ATG>AGG) (Hb Rotterdam): two novel alpha2 gene mutations associated with mild alpha-thalassemia found in the same family after newborn screening.

Giordano PC, Cnossen MH, Joosten AM, Jansen CA, Hakvoort TE, Bakker-Verweij M, Arkesteijn SG, van Delft P, Waye JS, Bouva MJ, Harteveld CL. Giordano PC, et al. Among authors: arkesteijn sg. Hemoglobin. 2010;34(4):354-65. doi: 10.3109/03630269.2010.486341. Hemoglobin. 2010. PMID: 20642333

2

Occurrence of common and rare δ-globin gene defects in two multiethnic populations: thirteen new mutations and the significance of δ-globin gene defects in β-thalassemia diagnostics.

Phylipsen M, Gallivan MV, Arkesteijn SG, Harteveld CL, Giordano PC. Phylipsen M, et al. Among authors: arkesteijn sg. Int J Lab Hematol. 2011 Feb;33(1):85-91. doi: 10.1111/j.1751-553X.2010.01255.x. Int J Lab Hematol. 2011. PMID: 20678137

3

The first case of Hb Groene Hart [alpha119(H2)Pro-->Ser, CCT-->TCT (alpha1)] homozygosity confirms that a thalassemia phenotype is associated with this abnormal hemoglobin variant.

Giordano PC, Zweegman S, Akkermans N, Arkesteijn SG, van Delft P, Versteegh FG, Wajcman H, Harteveld CL. Giordano PC, et al. Among authors: arkesteijn sg. Hemoglobin. 2007;31(2):179-82. doi: 10.1080/03630260701289490. Hemoglobin. 2007. PMID: 17486500

4

Hb Lepore-Leiden: a new delta/beta rearrangement associated with a beta-thalassemia minor phenotype.

Harteveld CL, Wijermans PW, Arkesteijn SG, Van Delft P, Kerkhoffs JL, Giordano PC. Harteveld CL, et al. Among authors: arkesteijn sg. Hemoglobin. 2008;32(5):446-53. doi: 10.1080/03630260802173429. Hemoglobin. 2008. PMID: 18932069

5

alpha-thalassaemia masked by beta gene defects and a new polyadenylation site mutation on the alpha2-globin gene.

Harteveld CL, Oosterhuis WP, Schoenmakers CH, Ananta H, Kos S, Bakker Verweij M, van Delft P, Arkesteijn SG, Phylipsen M, Giordano PC. Harteveld CL, et al. Among authors: arkesteijn sg. Eur J Haematol. 2010 Apr;84(4):354-8. doi: 10.1111/j.1600-0609.2009.01380.x. Epub 2009 Nov 12. Eur J Haematol. 2010. PMID: 19912309

6

Hb Den Haag [beta45(CD4)Phe-->Tyr]. A new hemoglobin variant observed during early pregnancy diagnostics.

Kaufmann JO, Harteveld CL, Bakker-Verweij M, Arkesteijn SG, van Delft P, Haak H, Wijermans PW, Kerkhoffs JL, Giordano PC. Kaufmann JO, et al. Among authors: arkesteijn sg. Hemoglobin. 2010;34(1):37-44. doi: 10.3109/03630260903547435. Hemoglobin. 2010. PMID: 20113286

7

Two new alpha1-globin gene point mutations: Hb Nedlands (HBA1:c.86C>T) [alpha28(B9)Ala-->Val] and Hb Queens Park (HBA1:c.98T>A) [alpha32(B13)Met-->Lys].

Phylipsen M, Prior JF, Lim E, Lingam N, Finlayson J, Arkesteijn SG, Harteveld CL, Giordano PC. Phylipsen M, et al. Among authors: arkesteijn sg. Hemoglobin. 2010 Jan;34(2):123-6. doi: 10.3109/03630261003679854. Hemoglobin. 2010. PMID: 20353346

8

A new alpha(0)-thalassemia deletion found in a Dutch family (--(AW)).

Phylipsen M, Vogelaar IP, Schaap RA, Arkesteijn SG, Boxma GL, van Helden WC, Wildschut IC, de Bruin-Roest AC, Giordano PC, Harteveld CL. Phylipsen M, et al. Among authors: arkesteijn sg. Blood Cells Mol Dis. 2010 Aug 15;45(2):133-5. doi: 10.1016/j.bcmd.2010.05.004. Epub 2010 Jun 1. Blood Cells Mol Dis. 2010. PMID: 20682466

9

Hb St. Truiden [α68(E17)Asn→His] and Hb Westeinde [α125(H8)Leu→Gln]: two new abnormalities of the α2-globin gene.

Kaufmann JO, Phylipsen M, Neven C, Huisman W, van Delft P, Bakker-Verweij M, Arkesteijn SG, Harteveld CL, Giordano PC. Kaufmann JO, et al. Among authors: arkesteijn sg. Hemoglobin. 2010;34(5):439-44. doi: 10.3109/03630269.2010.509185. Hemoglobin. 2010. PMID: 20854117

10

New and known β-thalassemia determinants masked by known and new δ gene defects [Hb A(2)-Ramallah or δ6(A3)Glu→Gln, GAG>>CAG].

Phylipsen M, Harteveld CL, de Metz M, Gallivan MV, Arkesteijn SG, Luo HY, Chui DH, Giordano PC. Phylipsen M, et al. Among authors: arkesteijn sg. Hemoglobin. 2010;34(5):445-50. doi: 10.3109/03630269.2010.511591. Hemoglobin. 2010. PMID: 20854118

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