-
2
-
-
32544432388
-
Known and new δ globin gene mutations and their diagnostic significance
-
Bouva M.J., Harteveld C.L., van Delft P. &Giordano P.C. (2006) Known and new δ globin gene mutations and their diagnostic significance. Haematologica 91, 129-132.
-
(2006)
Haematologica
, vol.91
, pp. 129-132
-
-
Bouva, M.J.1
Harteveld, C.L.2
Van Delft, P.3
Giordano, P.C.4
-
3
-
-
0000793602
-
A simple and rapid method for demonstrating sickling of the red blood cells: The use of reducing agents
-
Daland G.A. &Castle W.B. (1948) A simple and rapid method for demonstrating sickling of the red blood cells: the use of reducing agents. Journal of Laboratory and Clinical Medicine 33, 1082-1088.
-
(1948)
Journal of Laboratory and Clinical Medicine
, vol.33
, pp. 1082-1088
-
-
Daland, G.A.1
Castle, W.B.2
-
5
-
-
34248195808
-
Aanbevelingen van de werkroep hemoglobinopathieën
-
Giordano P.C., Smit J.W., Herruer W., Huisman J.G.J., Pouwels N., Verhoef N., Idema R.N. &Wijermans P. (2006a) Dragerschapsdiagnostiek en preventie van Sikkelcelziekte en Thalassemie major. Aanbevelingen van de werkroep hemoglobinopathieën. Ned Tijdschr Klin Chem Labgeneesk 31, 301-305.
-
(2006)
Ned Tijdschr Klin Chem Labgeneesk
, vol.31
, pp. 301-305
-
-
Giordano, P.C.1
Smit, J.W.2
Herruer, W.3
Huisman, J.G.J.4
Pouwels, N.5
Verhoef, N.6
Idema, R.N.7
Wijermans, P.8
-
6
-
-
37749034681
-
βThalassemia IVS-I-5 (Gf→C) heterozygosity masked by the presence of Hb J-Meerut in a Dutch-Indian patient
-
ECR56
-
Giordano P.C., Maatman R.G., Niessen R.W., van Delft P. &Harteveld C.L. (2006b) β Thalassemia IVS-I-5 (Gf→C) heterozygosity masked by the presence of Hb J-Meerut in a Dutch-Indian patient. Haematologica 91, ECR56
-
(2006)
Haematologica
, vol.91
-
-
Giordano, P.C.1
Maatman, R.G.2
Niessen, R.W.3
Van Delft, P.4
Harteveld, C.L.5
-
8
-
-
33645079893
-
α- Thalassemia phenotype induced by the new IVS-II-2 (Tf→A) splice donor site mutation on the α2-globin gene
-
Harteveld C.L., Jebbink M.C.W., van der Lely N., van Delft P., Akkermans N., Arkesteyn S. &Giordano P.C. (2006) α- Thalassemia phenotype induced by the new IVS-II-2 (Tf→A) splice donor site mutation on the α2-globin gene. Hemoglobin 30, 3-7.
-
(2006)
Hemoglobin
, vol.30
, pp. 3-7
-
-
Harteveld, C.L.1
Jebbink, M.C.W.2
Van Der Lely, N.3
Van Delft, P.4
Akkermans, N.5
Arkesteyn, S.6
Giordano, P.C.7
-
9
-
-
34547161963
-
-
Hb St. Jozef., a Valf→Leu N-terminal mutation leading to retention of the methionine, and partial acetylation found in the globin gene in cis with a -α3.7 thalassemia deletion
-
Harteveld C.L., Versteegh F.G.A., van Leer E.H.G., Starreveld J.S., Kok P.J.M.J., van Rooijen-Nijdam I., van Delft P., Zanella- Cleon I., Becchi M., Wajcman H. &Giordano P.C. (2007) Hb St. Jozef., a Valf→Leu N-terminal mutation leading to retention of the methionine, and partial acetylation found in the globin gene in cis with a -α3.7 thalassemia deletion. Hemoglobin 31, 313-323.
-
(2007)
Hemoglobin
, vol.31
, pp. 313-323
-
-
Harteveld, C.L.1
Versteegh, F.G.A.2
Van Leer, E.H.G.3
Starreveld, J.S.4
Kok, P.J.M.J.5
Van Rooijen-Nijdam, I.6
Van Delft, P.7
Zanella-Cleon, I.8
Becchi, M.9
Wajcman, H.10
Giordano, P.C.11
-
10
-
-
23444457791
-
Identification of hemoglobin variants by HPLC
-
author reply1305
-
Hoyer J.D. &Scheidt R.M. (2005) Identification of hemoglobin variants by HPLC. Clinical Chemistry 51, 1303-1304 (author reply1305).
-
(2005)
Clinical Chemistry
, vol.51
, pp. 1303-1304
-
-
Hoyer, J.D.1
Scheidt, R.M.2
-
11
-
-
4644223235
-
HPLC retention time as a diagnostic tool for hemoglobin variants and hemoglobinopathies: A study of 60000 samples in a clinical diagnostic laboratory
-
Joutovsky A., Hadzi-Nesic J. &Nardi M.A. (2004) HPLC retention time as a diagnostic tool for hemoglobin variants and hemoglobinopathies: a study of 60000 samples in a clinical diagnostic laboratory. Clinical Chemistry 50, 1736-1747.
-
(2004)
Clinical Chemistry
, vol.50
, pp. 1736-1747
-
-
Joutovsky, A.1
Hadzi-Nesic, J.2
Nardi, M.A.3
-
12
-
-
1842479318
-
Hemoglobin C and Hemoglobin O-Arab variants can be diagnosed using the Bio-Rad Variant II high-performance liquid chromatography system without further confirmatory tests
-
Joutovsky A. &Nardi M. (2004) Hemoglobin C and Hemoglobin O-Arab variants can be diagnosed using the Bio-Rad Variant II high-performance liquid chromatography system without further confirmatory tests. Archives of Pathology and Laboratory Medicine 128, 435-439.
-
(2004)
Archives of Pathology and Laboratory Medicine
, vol.128
, pp. 435-439
-
-
Joutovsky, A.1
Nardi, M.2
-
13
-
-
70350229529
-
Early pregnancy hemoglobinopathy diagnostics in the Dutch city of the Hague
-
Provisional results and a new hemoglobin variant:Hb Den-Haag [beta45 CD4(Phe > Tyr)]. October, Singapore (in press)
-
Kaufmann J.O., Harteveld C.L., van Delft P., Arkesteijn S.G.J., Selles A.W., Kerkhoffs J.L. &Giordano P.C. (2008) Early pregnancy hemoglobinopathy diagnostics in the Dutch city of The Hague. Provisional results and a new hemoglobin variant:Hb Den-Haag [beta45 CD4(Phe > Tyr)]. 11th International Conference on thalassaemia &Haemoglobinopathies 8-11 October, Singapore (in press).
-
(2008)
11th International Conference on Thalassaemia &Haemoglobinopathies
, pp. 8-11
-
-
Kaufmann, J.O.1
Harteveld, C.L.2
Van Delft, P.3
Arkesteijn, S.G.J.4
Selles, A.W.5
Kerkhoffs, J.L.6
Giordano, P.C.7
-
15
-
-
33748756507
-
-
Annales de Dermatologie et de Venereologie
-
2 levels in pseudoxanthoma elasticum. Annales de Dermatologie et de Venereologie 133, 645-651.
-
(2006)
2 Levels in Pseudoxanthoma Elasticum
, vol.133
, pp. 645-651
-
-
Martin, L.1
Pissard, S.2
Blanc, P.3
Chassaing, N.4
Legac, E.5
Briault, S.6
Le Bert, M.7
Le Saux, O.8
-
16
-
-
58349112100
-
The role of haemoglobin A(2) testing in the diagnosis of thalassaemias and related haemoglobinopathies
-
Mosca A., Paleari R., Ivaldi G., Galanello R. &Giordano P.C. (2009) The role of haemoglobin A(2) testing in the diagnosis of thalassaemias and related haemoglobinopathies. Journal of Clinical Pathology 62, 13-17.
-
(2009)
Journal of Clinical Pathology
, vol.62
, pp. 13-17
-
-
Mosca, A.1
Paleari, R.2
Ivaldi, G.3
Galanello, R.4
Giordano, P.C.5
-
17
-
-
11844253862
-
2 and F determination
-
2 and F determination. Clinical Biochemistry 38, 159-165.
-
(2005)
Clinical Biochemistry
, vol.38
, pp. 159-165
-
-
Paleari, R.1
Cannata, M.2
Leto, F.3
Maggio, A.4
Demartis, F.R.5
Desogus, M.F.6
Galanello, R.7
Mosca, A.8
-
19
-
-
33846406869
-
A new deletion defect leading to α-thalassaemia in a large dutch caucasian family
-
Viprakasit V., Harteveld C.L., Ayyub H., Stanley J.S., Giordano P.C., Wood W.G. &Higgs DR. (2007) A new deletion defect leading to α-thalassaemia in a large Dutch Caucasian family. British Journal of Haematology 136, 662-665.
-
(2007)
British Journal of Haematology
, vol.136
, pp. 662-665
-
-
Viprakasit, V.1
Harteveld, C.L.2
Ayyub, H.3
Stanley, J.S.4
Giordano, P.C.5
Wood, W.G.6
Higgs, D.R.7
-
20
-
-
0031890423
-
An evaluation of the bio-rad variant haemoglobin testing system for the detection of haemoglobinopathies
-
Waters H.M., Howarth J.E., Hyde K., Goldstone S., Cinkotai K.I., Kadkhodaei- Elyaderani M. &Richards J.T. (1998) An evaluation of the Bio-Rad Variant Haemoglobin Testing System for the detection of haemoglobinopathies. Clinical Laboratory Haematology 20, 31-40.
-
(1998)
Clinical Laboratory Haematology
, vol.20
, pp. 31-40
-
-
Waters, H.M.1
Howarth, J.E.2
Hyde, K.3
Goldstone, S.4
Cinkotai, K.I.5
Kadkhodaei-Elyaderani, M.6
Richards, J.T.7
|