P. van Delft

发表

Evaluating five dedicated automatic devices for haemoglobinopathy diagnostics in multi‐ethnic populations

U. Baylan, P. Giordano, C. Harteveld, 2009, International journal of laboratory hematology.

The First Case of Hb Groene Hart [α119(H2)Pro→Ser, CCT→TCT (α1)] Homozygosity Confirms That a Thalassemia Phenotype Is Associated with this Abnormal Hemoglobin Variant

F. Versteegh, H. Wajcman, S. Zweegman, 2007, Hemoglobin.

α-Thalassemia Phenotype Induced by the New IVS-II-2 (T→A) Splice Donor Site Mutation on the α2-Globin Gene

P. Giordano, C. Harteveld, M. C. Jebbink, 2006 .

Haemoglobinopathy analyses in the Netherlands: a report of an in vitro globin chain biosynthesis survey using a rapid, modified method.

L. Bernini, P. Giordano, C. Harteveld, 1999, Clinical and laboratory haematology.

Molecular spectrum of α‐thalassemia in the Iranian population of Hormozgan: Three novel point mutation defects

P. Giordano, C. Harteveld, E. Quakkelaar, 2003, American journal of hematology.

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

P. Giordano, C. Harteveld, P. van Delft, 2006, Haematologica.

The Rare Hb Showa-Yakushiji [β110(G12)Leu→Pro, CTG→CCG] in Combination with an α Gene Triplication Found in a Dutch Patient During Her First Pregnancy Examination

M. J. Sander, P. Giordano, C. Harteveld, 2007, Hemoglobin.

Molecular spectrum of alpha-thalassemia in Tunisia: epidemiology and detection at birth.

K. Dellagi, S. Abbès, P. Giordano, 2002, Hemoglobin.

A novel 7·9 kb deletion causing α+‐thalassaemia in two independent families of Indian origin

M. Losekoot, M. Kappers-Klunne, P. Wijermans, 2003 .

A novel α0‐thalassemia deletion in a Greek patient with HbH disease and β‐thalassemia trait

J. Traeger-Synodinos, E. Kanavakis, P. Giordano, 2012, European journal of haematology.

Hb Geldrop St. Anna [β94(FG1)Asp→Tyr]: a New Hemoglobin Variant Observed in a Diabetic Patient

M. Thelen, P. Giordano, C. Harteveld, 2005, Hemoglobin.

Hb Zoeterwoude [β23(B5)Val → Ala)]: A New β-Globin Variant Found in Association with Erythrocytosis

P. Giordano, C. Harteveld, S. Arkesteijn, 2005 .

Hb Amsterdam [α32(B13)Met→Ile (α2)]: A New Unstable Variant Associated with an α-Thalassemia Phenotype and a New African Polymorphism

M. Vervloet, S. Zweegman, P. Giordano, 2005 .

The Molecular Spectrum of Beta-Thalassemia and Abnormal Hemoglobins in the Allochthonous and Autochthonous Dutch Population

M. Losekoot, L. Bernini, P. Giordano, 1999, Public Health Genomics.

Hb Bleuland [α108(G15)Thr→Asn, ACC→AAC (α2)]: A New Abnormal Hemoglobin Associated with a Mild α-Thalassemia Phenotype

F. Versteegh, P. Giordano, C. Harteveld, 2006 .

Hb Groene Hart: a new Pro-->Ser amino acid substitution at position 119 of the alpha1-globin chain is associated with a mild alpha-thalassemia phenotype.

F. Versteegh, H. Wajcman, J. Kister, 2002, Hemoglobin.

Atypical HbH disease in a Surinamese patient resulting from a combination of the −SEA and −α3.7 deletions with HbC heterozygosity

M. Losekoot, L. Bernini, P. Giordano, 1997, British Journal of Haematology.

An α‐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 α2‐Globin Gene

P. Wijermans, P. Giordano, C. Harteveld, 2004 .

α‐Thalassaemia as a result of a novel splice donor site mutation of the α1‐globin gene

L. Bernini, P. Giordano, C. Harteveld, 2000 .

α‐thalassaemia masked by β gene defects and a new polyadenylation site mutation on the α2‐globin gene

P. Giordano, C. Harteveld, C. Schoenmakers, 2010, European journal of haematology.

Hb Lepore-Leiden: A New δ/β Rearrangement Associated with a β-Thalassemia Minor Phenotype

P. Giordano, C. Harteveld, J. Kerkhoffs, 2008, Hemoglobin.

Hb Oegstgeest [α104(G11)Cys → Ser (α1)]. A New Hemoglobin Variant Associated with a Mild α-Thalassemia Phenotype

N. Blom, L. Rozendaal, P. Giordano, 2005, Hemoglobin.

Phenotype variability of the dominant β-thalassemia induced in four Dutch families by the rare cd121 (G→T) mutation

L. Bernini, P. Giordano, R. Plug, 1998, Annals of Hematology.

Hb DELFZICHT [α9(A7)Asn→Lys (α1)]: A NEW, CLINICALLY SILENT HEMOGLOBIN VARIANT OBSERVED IN A DUTCH PATIENT

H. Wajcman, P. Giordano, C. Harteveld, 2002 .

A new polyadenylation site mutation associated with a mild beta-thalassemia phenotype.

M. Kappers-Klunne, P. Giordano, C. Harteveld, 2005, Haematologica.