Search Results - "PLUG, R. J"

Phenotype variability of the dominant β-thalassemia induced in four Dutch families by the rare cd121 (G→T) mutation by GIORDANO, P. C, HARTEVELD, C. L, MICHIELS, J. J, TERPSTRA, W, SCHELFHOUT, L. J. D. M, APPEL, I. M, BATELAAN, D, VAN DELFT, P, PLUG, R. J, BERNINI, L. F

“…Eight patients who were carriers of beta-thalassemia induced by the cd121 (G-->T) mutation are described in four nonrelated Dutch families. This mutant, which…”
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Hb Malmö [β-97(FG-4)His→Gln] leading to polycythemia in a Dutch family by GIORDANO, P. C, HARTEVELD, C. L, BRAND, A, WILLEMS, L. N. A, KLUIN-NELEMANS, H. C, PLUG, R. J, BATELAAN, D. N, BERNINI, L. F

“…We have examined six individuals from a two-generation Dutch family for a suspected hemoglobin (Hb) abnormality. The propositus presented with polycythemia and…”
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Atypical HbH disease in a Surinamese patient resulting from a combination of the -SEA and -alpha 3.7 deletions with HbC heterozygosity by Giordano, P C, Harteveld, C L, Michiels, J J, Terpstra, W, Batelaan, D, van Delft, P, Plug, R J, van der Wielen, M J, Losekoot, M, Bernini, L F

“…The first case of haemoglobin H (HbH) disease in combination with haemoglobin C (HbC) is reported in a man of Surinamese origin. Only haemoglobin A (HbA) and…”
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Atypical HbH disease in a Surinamese patient resulting from a combination of the −SEA and −α3.7 deletions with HbC heterozygosity by GIORDANO, P. C., HARTEVELD, C. L., MICHIELS, J. J., TERPSTRA, W., BATELAAN, D., VAN DELFT, P., PLUG, R. J., VAN DER WIELEN, M. J. R., LOSEKOOT, M., BERNINI, L. F.

“…The first case of haemoglobin H (HbH) disease in combination with haemoglobin C (HbC) is reported in a man of Surinamese origin. Only haemoglobin A (HbA) and…”
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Hb 'T LANGE LAND [β136(H14)Gly → Arg]: A NEW HEMOGLOBIN VARIANT DESCRIBED IN A DUTCH PATIENT OF CHINESE ORIGIN by Harteveld, Cornelis, Plug, Robert J., Van Delft, Peter, Van Helden, Willem C. H., Giordano, Piero C.

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Molecular analysis of the APC gene in 105 Dutch kindreds with familial adenomatous polyposis: 67 germline mutations identified by DGGE, PTT, and southern analysis by van der Luijt, Rob. B., Khan, P. Meera, Vasen, Hans F. A., Tops, Carli M. J., van Leeuwen-Cornelisse, Inge S. J., Wijnen, Juul Th, van der Klift, Heleen M., Plug, Rob J., Griffioen, Gerrit, Fodde, Riccardo

“…Germline mutations of the adenomatous polyposis coli (APC) gene are responsible for familial adenomatous polyposis (FAP), an autosomal dominant predisposition…”
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A case of non-beta-globin gene linked beta thalassaemia in a Dutch family with two additional alpha-gene defects: the common -alpha3.7 deletion and the rare IVS1-116 (A-->G) acceptor splice site mutation by Giordano, P C, Harteveld, C L, Haak, H L, Batelaan, D, van Delft, P, Plug, R J, Emonts, M, Zanardini, R, Bernini, L F

“…We describe a family with beta thalassaemia, apparently not linked to the beta-globin gene cluster, in combination with alpha thalassaemia. The propositus, an…”
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A case of non-β-globin gene linked β thalassaemia in a Dutch family with two additional α-gene defects : the common -α3.7deletion and the rare IVS1-116 (A→G) acceptor splice site mutation by GIORDANO, P. C, HARTEVELD, C. L, HAAK, H. L, BATELAAN, D, VAN DELFT, P, PLUG, R. J, EMONTS, M, ZANARDINI, R, BERNINI, L. F

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Hb DELFZICHT [α9(A7)Asn→Lys (α1)]: A NEW, CLINICALLY SILENT HEMOGLOBIN VARIANT OBSERVED IN A DUTCH PATIENT by Harteveld, Cornelis L., Van Delft, Peter, Plug, Robert J., Erjavec, Zoran, Wajcman, Henri, Giordano, Piero C.

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