Arkesteijn SG - Search Results

1

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

2

Hb Haaglanden: a new nonsickling β7Glu>Val variant. Consequences for basic diagnostics, screening, and risk assessment when dealing with HbS-like variants.

Harteveld CL, Ponjee G, Bakker-Verweij M, Arkesteijn SG, Phylipsen M, Giordano PC. Harteveld CL, et al. Among authors: arkesteijn sg. Int J Lab Hematol. 2012 Oct;34(5):551-5. doi: 10.1111/j.1751-553X.2012.01424.x. Epub 2012 Apr 11. Int J Lab Hematol. 2012. PMID: 22494447

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

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

6

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

7

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

8

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

9

Hb Boskoop [HBA2c.112C>T p.Pro38Ser]: a new α2 chain variant observed in a Morrocan family.

Versteegh FG, Arkesteijn SG, Bakker-Verweij M, Haanappel K, van Delft P, Phylipsen M, Kaufmann JO, Kok PJ, Lansbergen GW, Giordano PC, Harteveld CL. Versteegh FG, et al. Among authors: arkesteijn sg. Hemoglobin. 2011;35(2):97-102. doi: 10.3109/03630269.2011.557459. Hemoglobin. 2011. PMID: 21417565

10

Characterization of Two Deep Intronic Variants on the β-Globin Gene with Inconsistent Interpretations of Clinical Significance.

Grimholt RM, Harteveld CL, Arkesteijn SGJ, Fjeld B, Klingenberg O. Grimholt RM, et al. Among authors: arkesteijn sgj. Hemoglobin. 2018 Mar;42(2):126-128. doi: 10.1080/03630269.2018.1473255. Epub 2018 Jul 26. Hemoglobin. 2018. PMID: 30047296

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