The hemoglobinopathies, molecular disease mechanisms and diagnostics von Harteveld, Cornelis L., Achour, Ahlem, Arkesteijn, Sandra J. G., Huurne, Jeanet, Verschuren, Maaike, Bhagwandien‐Bisoen, Sharda, Schaap, Rianne, Vijfhuizen, Linda, Idrissi, Hakima, Koopmann, Tamara T.

Volltext

A new gene associated with a β-thalassemia phenotype: the observation of variants in SUPT5H von Achour, Ahlem, Koopmann, Tamara, Castel, Rob, Santen, Gijs W.E., den Hollander, Nicolette, Knijnenburg, Jeroen, Ruivenkamp, Claudia A.L., Arkesteijn, Sandra G.J., ter Huurne, Jeanet, Bisoen, Sharda, Verschuren, Maaike, Vijfhuizen, Linda, Schaap, Rianne, Grimbergen, Anneliese, Slomp, Jennichjen, Traeger-Synodinos, Joanne, Vrettou, Christina, Pissard, Serge, Galacteros, Frederic, Baas, Frank, Harteveld, Cornelis L.

Volltext

Alpha Thalassemia Screening in Multiethnic Population in Northern Europe Using Hb Bart's Immunochromatographic Test von Nik Mohd Hasan, Nik Fatma Fairuz, Arkesteijn, Sandra J G, Ter Huurne, Jeanet, Verschuren, Maaike, Bhagwandien-Bisoen, Sharda, Schaap, Rianne, Vijfhuizen, Linda, El Idrissi, Hakima, Koopmann, Tamara T, Harteveld, Cornelis L

Volltext

Loss-of-Function Variants in SUPT5H as Modifying Factors in Beta-Thalassemia von Harteveld, Cornelis L, Achour, Ahlem, Fairuz Mohd Hasan, Nik Fatma, Legebeke, Jelmer, Arkesteijn, Sandra J G, Huurne, Jeanet Ter, Verschuren, Maaike, Bhagwandien-Bisoen, Sharda, Schaap, Rianne, Vijfhuizen, Linda, Idrissi, Hakima El, Babbs, Christian, Higgs, Douglas R, Koopmann, Tamara T, Vrettou, Christina, Traeger-Synodinos, Joanne, Baas, Frank

Volltext

Adult‐onset beta‐thalassaemia intermedia caused by a 5‐Mb somatic clonal segmental deletion in haemopoietic stem cells involving the β‐globin locus von Traeger‐Synodinos, Joanne, Bosch, Cathy A. J., Vrettou, Christina, Maragoudaki, Lena, Apostolidis, Janos, Kanavakis, Emmanuel, Kattamis, Christos, Arkesteijn, Sandra G. J., Hoffer, Mariëtte J. V., Ruivenkamp, Claudia A. L., Harteveld, Cornelis L.

Volltext

Characterization of Two Deep Intronic Variants on the β-Globin Gene with Inconsistent Interpretations of Clinical Significance von Grimholt, Runa Marie, Harteveld, Cornelis, Arkesteijn, Sandra G J, Fjeld, Bente, Klingenberg, Olav

Volltext

A brief review on newborn screening methods for hemoglobinopathies and preliminary results selecting beta thalassemia carriers at birth by quantitative estimation of the HbA fracti... von Mantikou, Eleni, Arkesteijn, Sandra G., Beckhoven van, Jaqueline M., Kerkhoffs, Jean-Louis, Harteveld, Cornelis L., Giordano, Piero Carlo

Volltext

A new alpha(0)-thalassemia deletion found in a Dutch family (--(AW)) von Phylipsen, Marion, Vogelaar, Ingrid P, Schaap, Rianne A C, Arkesteijn, Sandra G J, Boxma, George L, van Helden, Willem C H, Wildschut, Irene C M, de Bruin-Roest, Andrea C, Giordano, Piero C, Harteveld, Cornelis L

Volltext

α‐thalassaemia masked by β gene defects and a new polyadenylation site mutation on the α2‐globin gene von Harteveld, Cornelis L., Oosterhuis, Wytze P., Schoenmakers, Christian H. H., Ananta, Hardjawardhama, Kos, Snjezana, Bakker Verweij, Margaretha, Van Delft, Peter, Arkesteijn, Sandra G. J., Phylipsen, Marion, Giordano, Piero C.

Volltext

Hb Lepore-Leiden: A New δ β Rearrangement Associated with a β-Thalassemia Minor Phenotype von Harteveld, Cornelis L., Wijermans, Pierre W., Arkesteijn, Sandra G.J., Van Delft, Peter, Kerkhoffs, Jean-Louis, Giordano, Piero C.

Volltext

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 von Giordano, Piero C., Zweegman, Sonja, Akkermans, Nicole, Arkesteijn, Sandra G.J., van Delft, Peter, Versteegh, Florens G.A., Wajcman, Henri, Harteveld, Cornelis L.

Volltext

The first report of hemoglobin E in combination with the highly unstable alpha‐globin variant Hb Adana: The importance of molecular confirmation von Achour, Ahlem, Grouw, Elke, Erp, Femke, Arkesteijn, Sandra, Schaap, Rianne, Huurne, Jeanet ter, Bisoen, Sharda, Verschuren, Maaike, Harteveld, Cornelis L.

Volltext

A new α0-thalassemia deletion found in a Dutch family (--AW) von Phylipsen, Marion, Vogelaar, Ingrid P., Schaap, Rianne A.C., Arkesteijn, Sandra G.J., Boxma, George L., van Helden, Willem C.H., Wildschut, Irene C.M., de Bruin-Roest, Andrea C., Giordano, Piero C., Harteveld, Cornelis L.

Volltext

a-thalassaemia masked by b gene defects and a new polyadenylation site mutation on the a2-globin gene von Harteveld, Cornelis L, Oosterhuis, Wytze P, Schoenmakers, Christian HH, Ananta, Hardjawardhama, Kos, Snjezana, Bakker Verweij, Margaretha, van Delft, Peter, Arkesteijn, Sandra GJ, Phylipsen, Marion, Giordano, Piero C

Volltext

A new α 0-thalassemia deletion found in a Dutch family (-- AW) von Phylipsen, Marion, Vogelaar, Ingrid P., Schaap, Rianne A.C., Arkesteijn, Sandra G.J., Boxma, George L., van Helden, Willem C.H., Wildschut, Irene C.M., de Bruin-Roest, Andrea C., Giordano, Piero C., Harteveld, Cornelis L.

Volltext

alpha-thalassaemia masked by beta gene defects and a new polyadenylation site mutation on the alpha2-globin gene von Harteveld, Cornelis L, Oosterhuis, Wytze P, Schoenmakers, Christian H H, Ananta, Hardjawardhama, Kos, Snjezana, Bakker Verweij, Margaretha, van Delft, Peter, Arkesteijn, Sandra G J, Phylipsen, Marion, Giordano, Piero C

Volltext

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

Volltext

Hb Zoeterwoude [β23(B5)Val → Ala)]: A New β-Globin Variant Found in Association with Erythrocytosis von Harteveld, Cornelis L, Groeneveld, J.H Marc, van Dam, Bastiaan, Van Delft, Peter, Akkerman, Nicole, Arkesteijn, Sandra, Giordano, Piero C.

Volltext

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

Volltext

Hb Geldrop St. Anna [β94(FG1)Asp→Tyr]: a New Hemoglobin Variant Observed in a Diabetic Patient von Harteveld, Cornelis L., Thelen, Marc H. M., Rutten, Johannes J. A., Leuverman, Jolanda, Akkermans, Nicole, van Delft, Peter, Arkesteijn, Sandra, Giordano, Piero C.

Volltext