Phylipsen M - Search Results

1

Nine unknown rearrangements in 16p13.3 and 11p15.4 causing alpha- and beta-thalassaemia characterised by high resolution multiplex ligation-dependent probe amplification.

Harteveld CL, Voskamp A, Phylipsen M, Akkermans N, den Dunnen JT, White SJ, Giordano PC. Harteveld CL, et al. Among authors: phylipsen m. J Med Genet. 2005 Dec;42(12):922-31. doi: 10.1136/jmg.2005.033597. Epub 2005 May 13. J Med Genet. 2005. PMID: 15894596 Free PMC article.

2

Refinement of the genetic cause of ATR-16.

Harteveld CL, Kriek M, Bijlsma EK, Erjavec Z, Balak D, Phylipsen M, Voskamp A, di Capua E, White SJ, Giordano PC. Harteveld CL, et al. Among authors: phylipsen m. Hum Genet. 2007 Nov;122(3-4):283-92. doi: 10.1007/s00439-007-0399-y. Epub 2007 Jun 28. Hum Genet. 2007. PMID: 17598130

3

Thalassemia in Western Australia: 11 novel deletions characterized by Multiplex Ligation-dependent Probe Amplification.

Phylipsen M, Prior JF, Lim E, Lingam N, Vogelaar IP, Giordano PC, Finlayson J, Harteveld CL. Phylipsen M, et al. Blood Cells Mol Dis. 2010 Mar 15;44(3):146-51. doi: 10.1016/j.bcmd.2009.12.011. Epub 2010 Jan 27. Blood Cells Mol Dis. 2010. PMID: 20110179

4

Fine-tiling array CGH to improve diagnostics for α- and β-thalassemia rearrangements.

Phylipsen M, Chaibunruang A, Vogelaar IP, Balak JR, Schaap RA, Ariyurek Y, Fucharoen S, den Dunnen JT, Giordano PC, Bakker E, Harteveld CL. Phylipsen M, et al. Hum Mutat. 2012 Jan;33(1):272-80. doi: 10.1002/humu.21612. Epub 2011 Oct 31. Hum Mutat. 2012. PMID: 21922597

5

Two new beta-thalassemia deletions compromising prenatal diagnosis in an Italian and a Turkish couple seeking prevention.

Phylipsen M, Amato A, Cappabianca MP, Traeger-Synodinos J, Kanavakis E, Basak N, Galanello R, Tuveri T, Ivaldi G, Harteveld CL, Giordano PC. Phylipsen M, et al. Haematologica. 2009 Sep;94(9):1289-92. doi: 10.3324/haematol.2009.007989. Haematologica. 2009. PMID: 19734421 Free PMC article.

6

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: phylipsen m. 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

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. 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. 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

A novel α(0) -thalassemia deletion in a Greek patient with HbH disease and β-thalassemia trait.

Phylipsen M, Traeger-Synodinos J, van der Kraan M, van Delft P, Bakker G, Geerts M, Kanavakis E, Stamoulakatou A, Karagiorga M, Giordano PC, Harteveld CL. Phylipsen M, et al. Eur J Haematol. 2012 Apr;88(4):356-62. doi: 10.1111/j.1600-0609.2012.01748.x. Epub 2012 Feb 11. Eur J Haematol. 2012. PMID: 22324317

10

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. 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

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