Giordano PC - Search Results

1

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: giordano pc. 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

2

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. Among authors: giordano pc. Hum Mutat. 2012 Jan;33(1):272-80. doi: 10.1002/humu.21612. Epub 2011 Oct 31. Hum Mutat. 2012. PMID: 21922597

3

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: giordano pc. 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.

4

An alpha-thalassemia phenotype in a Dutch Hindustani, caused by a new point mutation that creates an alternative splice donor site in the first exon of the alpha2-globin gene.

Harteveld CL, Wijermans PW, van Delft P, Rasp E, Haak HL, Giordano PC. Harteveld CL, et al. Among authors: giordano pc. Hemoglobin. 2004 Aug;28(3):255-9. doi: 10.1081/hem-120040257. Hemoglobin. 2004. PMID: 15481895

5

Hb Amsterdam [alpha32(B13)Met--Ile (alpha2)]: a new unstable variant associated with an alpha-thalassemia phenotype and a new African polymorphism.

Harteveld CL, Vervloet M, Zweegman S, van Delft P, Akkermans N, Arkestijn S, Giordano PC. Harteveld CL, et al. Among authors: giordano pc. Hemoglobin. 2005;29(4):257-62. doi: 10.1080/03630260500307956. Hemoglobin. 2005. PMID: 16370485

6

Known and new delta globin gene mutations and their diagnostic significance.

Bouva MJ, Harteveld CL, van Delft P, Giordano PC. Bouva MJ, et al. Among authors: giordano pc. Haematologica. 2006 Jan;91(1):129-32. Haematologica. 2006. PMID: 16434382

7

Alpha-thalassemia phenotype induced by the new IVS-II-2 (T --> A) splice donor site mutation on the alpha2-globin gene.

Harteveld CL, Jebbink MC, van der Lely N, van Delft P, Akkermans N, Arkesteyn S, Giordano PC. Harteveld CL, et al. Among authors: giordano pc. Hemoglobin. 2006;30(1):3-7. doi: 10.1080/03630260500453784. Hemoglobin. 2006. PMID: 16540408

8

Hb Bleuland [alpha108(G15)Thr-->Asn, ACC-->AAC (alpha2)]: a new abnormal hemoglobin associated with a mild alpha-thalassemia phenotype.

Harteveld CL, Versteegh FG, Kok PJ, van Rooijen-Nijdam IH, van Delft P, Giordano PC. Harteveld CL, et al. Among authors: giordano pc. Hemoglobin. 2006;30(3):349-54. doi: 10.1080/03630260600755351. Hemoglobin. 2006. PMID: 16840225

9

Ggamma -37 (A-->T): a new nondeletional hereditary persistence of fetal hemoglobin determinant associated with the rare codon 91 (+T) delta0-thalassemia.

Bouva MJ, Harteveld CL, Bakker-Verweij G, van Delft P, Giordano PC. Bouva MJ, et al. Among authors: giordano pc. Hemoglobin. 2006;30(3):371-7. doi: 10.1080/03630260600755641. Hemoglobin. 2006. PMID: 16840228

10

Frequency of alpha-globin gene triplications and their interaction with beta-thalassemia mutations.

Giordano PC, Bakker-Verwij M, Harteveld CL. Giordano PC, et al. Hemoglobin. 2009;33(2):124-31. doi: 10.1080/03630260902827684. Hemoglobin. 2009. PMID: 19373588

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