Publications by authors named "Peter van Delft"

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A novel α(0) -thalassemia deletion in a Greek patient with HbH disease and β-thalassemia trait.
Marion Phylipsen, Jan Traeger-Synodinos, Martijn van der Kraan, Peter van Delft, Greet Bakker

Eur J Haematol· April 2012

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Hb Boskoop [HBA2c.112C>T p.Pro38Ser]: a new α2 chain variant observed in a Morrocan family.
Florens G A Versteegh, Sandra G J Arkesteijn, Margreet Bakker-Verweij, Karola Haanappel, Peter van Delft

Hemoglobin· August 2011

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Hb St. Truiden [α68(E17)Asn→His] and Hb Westeinde [α125(H8)Leu→Gln]: two new abnormalities of the α2-globin gene.
Judith O Kaufmann, Marion Phylipsen, Catherine Neven, Wim Huisman, Peter van Delft

Hemoglobin· March 2011

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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.
Piero C Giordano, Marjon H Cnossen, Annemarie M S Joosten, Cees A M Jansen, Tineke E Hakvoort, Peter van Delft

Hemoglobin· October 2010

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Hb Den Haag [beta45(CD4)Phe-->Tyr]. A new hemoglobin variant observed during early pregnancy diagnostics.
Judith O Kaufmann, Cornelis L Harteveld, Margreet Bakker-Verweij, Sandra G J Arkesteijn, Peter van Delft

Hemoglobin· May 2010

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alpha-thalassaemia masked by beta gene defects and a new polyadenylation site mutation on the alpha2-globin gene.
Cornelis L Harteveld, Wytze P Oosterhuis, Christian H H Schoenmakers, Hardjawardhama Ananta, Snjezana Kos, Peter van Delft

Eur J Haematol· April 2010

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Hb Lepore-Leiden: a new delta/beta rearrangement associated with a beta-thalassemia minor phenotype.
Cornelis L Harteveld, Pierre W Wijermans, Sandra G J Arkesteijn, Peter Van Delft, Jean-Louis Kerkhoffs

Hemoglobin· July 2009

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Hb St. Jozef, A Val-->Leu N-terminal mutation leading to retention of the methionine, and partial acetylation found in the globin gene in Cis with a -alpha3.7 thalassemia deletion.
Cornelis L Harteveld, Florens G A Versteegh, Eduard H G van Leer, Jaap S Starreveld, Peter J M J Kok, Peter van Delft

Hemoglobin· October 2007

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Hb Zoetermeer: a new mutation on the alpha2 gene inducing an Ala-->Ser substitution at codon 21 is possibly associated with a mild thalassemic phenotype.
Cornelis L Harteveld, Willem C H van Helden, George L Boxma, Peter van Delft, Margaretha Bakker-Verweij

Hemoglobin· October 2007

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The rare Hb Showa-Yakushiji [beta110(G12)Leu-->Pro, CTG-->CCG] in combination with an alpha gene triplication found in a Dutch patient during her first pregnancy examination.
Piero C Giordano, Akosua Addo-Daaku, Margaretha J Sander, Irene van Rooijen-Nijdam, Peter van Delft

Hemoglobin· July 2007

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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.
Piero C Giordano, Sonja Zweegman, Nicole Akkermans, Sandra G J Arkesteijn, Peter van Delft

Hemoglobin· July 2007

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Beta thalassemia IVS-I-5(G-->C) heterozygosity masked by the presence of HbJ-Meerut in a Dutch-Indian patient.
Piero C Giordano, R G H J Maatman, R W L M Niessen, Peter van Delft, Cornelis L Harteveld

Haematologica· December 2006

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Hb Bleuland [alpha108(G15)Thr-->Asn, ACC-->AAC (alpha2)]: a new abnormal hemoglobin associated with a mild alpha-thalassemia phenotype.
Cornelis L Harteveld, Florens G A Versteegh, Peter J M J Kok, Irene H van Rooijen-Nijdam, Peter van Delft

Hemoglobin· August 2006

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Ggamma -37 (A-->T): a new nondeletional hereditary persistence of fetal hemoglobin determinant associated with the rare codon 91 (+T) delta0-thalassemia.
Marelle J Bouva, Cornelis L Harteveld, Greet Bakker-Verweij, Peter van Delft, Piero C Giordano

Hemoglobin· August 2006

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Alpha-thalassemia phenotype induced by the new IVS-II-2 (T --> A) splice donor site mutation on the alpha2-globin gene.
Cornelis L Harteveld, Max C W Jebbink, Nico van der Lely, Peter van Delft, Nicole Akkermans

Hemoglobin· July 2006

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Hb Bronovo, a new globin gene mutation at alpha2 103 (His->Leu) associated with an alpha thalassemia phenotype.
Cornelis L Harteveld, Gerard Steen, L Thomas Vlasveld, Peter van Delft, Piero C Giordano

Haematologica· April 2006

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Hb Amsterdam [alpha32(B13)Met--Ile (alpha2)]: a new unstable variant associated with an alpha-thalassemia phenotype and a new African polymorphism.
Cornelis L Harteveld, Mark Vervloet, Sonja Zweegman, Peter van Delft, Nicole Akkermans

Hemoglobin· February 2006

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Known and new delta globin gene mutations and their diagnostic significance.
Marelle J Bouva, Cornelis L Harteveld, Peter van Delft, Piero C Giordano

Haematologica· January 2006

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Hb Oegstgeest [alpha104(G11)Cys-->Ser (alpha1)]. A new hemoglobin variant associated with a mild alpha-thalassemia phenotype.
Cornelis L Harteveld, Lieke Rozendaal, Nico A Blom, Shirley Lo-A-Njoe, Nicole Akkerman, Peter Van Delft

Hemoglobin· December 2005

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Hb Geldrop St. Anna [beta94(FG1)Asp --> Tyr]: a new hemoglobin variant observed in a diabetic patient.
Cornelis L Harteveld, Marc H M Thelen, Johannes J A Rutten, Jolanda Leuverman, Nicole Akkermans, Peter van Delft

Hemoglobin· September 2005

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Hb zoeterwoude [beta23(B5)Val-->Ala)]: a new beta-globin variant found in association with erythrocytosis.
Cornelis L Harteveld, J H Marc Groeneveld, Bastiaan van Dam, Peter Van Delft, Nicole Akkerman

Hemoglobin· August 2005

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A new polyadenylation site mutation associated with a mild beta-thalassemia phenotype.
Piero C Giordano, Marelle J Bouva, Peter Van Delft, Nicole Akkerman, Mies C Kappers-Klunne

Haematologica· April 2005

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Hb Suan-Dok [alpha109(G16)Leu-->Arg; CTG-->CGG (alpha2)] described in a patient of African ancestry.
Marlies E Regtuijt, Cornelis L Harteveld, Peter Van Delft, Nicole Akkermans, Piero C Giordano

Hemoglobin· August 2004

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Hb Buffalo [alpha89(FG1)His-->Gln (alpha1)], observed solely and in the presence of an Hb S [beta6(A3)Glu-->Val] heterozygosity.
Cornelis L Harteveld, Peter Van Delft, Nicole Akkermans, Sandra Arkesteijn, Irene H Van Rooijen-Nijdam

Hemoglobin· August 2004

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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.
Cornelis L Harteveld, Pierre W Wijermans, Peter van Delft, Ellen Rasp, Hans L Haak

Hemoglobin· August 2004

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