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MOLECULAR SPECTRUM OF β-THALASSEMIA IN THE IRANIAN PROVINCE OF HORMOZGAN

Autor: Piero C. Giordano, Luigi F. Bernini, C. L. Harteveld, Majid Yavarian, D. Batelaan

Publikováno v: Hemoglobin. 25:35-43

Prevention of beta-thalassemia implies knowledge of the molecular spectrum occurring in the population at risk. This knowledge is necessary, especially when a prevention protocol is applied to a multiethnic population. For this purpose, we have recen

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bd9318c2a6a0c9b13b02a42532e58ff4
https://doi.org/10.1081/hem-100103068

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

Autor: L. F. Bernini, Piero C. Giordano, D. Batelaan, Cornelis L. Harteveld, P. van Delft

Publikováno v: Clinical & Laboratory Haematology. 21:247-256

The paper reports the results obtained from the study of 949 patients examined for a suspected alpha- or beta-thalassaemia using a rapid modified method of in vitro biosynthesis determination. Part of the results have been evaluated in correlation wi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::3e6c9a120b58407851ac11d3e602923f
https://doi.org/10.1046/j.1365-2257.1999.00197.x

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Hb nijkerk: A new mutation at codons 138/139 of the β-giobin gene inducing severe hemolytic anemia in a dutch girl

Autor: Piero C. Giordano, P. van Delft, H. M. van den Berg, Marrie C.A. Bruin, D. Roos, Luigi F. Bernini, R. van Zwieten, C. L. Harteveld, D. Batelaan

Publikováno v: Hemoglobin. 23:135-144

We describe a new structural mutant of the beta-globin chain in a 17-year-old Dutch Caucasian girl. The mutant is associated with a severe pathology as a consequence of hyper-instability of the hemoglobin tetramer. The proband, whose parents had no h

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https://doi.org/10.3109/03630269908996158

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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

Autor: Piero C. Giordano, R. J. Plug, H. L. Haak, C. L. Harteveld, P. van Delft, Luigi F. Bernini, Marieke Emonts, D. Batelaan, R. Zanardini

Publikováno v: British Journal of Haematology. 103:370-376

We describe a family with beta thalassaemia, apparently not linked to the beta-globin gene cluster, in combination with alpha thalassaemia. The propositus, an adult Dutch Caucasian male, and his son presented with microcytic hypochromic parameters. T

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https://doi.org/10.1046/j.1365-2141.1998.00999.x

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

Autor: R. J. Plug, C. L. Harteveld, Piero C. Giordano, D. Batelaan, P. van Delft, Luigi F. Bernini, Monique Losekoot, Angelien J.G.M. Heister

Publikováno v: Public Health Genomics. 1:243-251

The prevalence at birth of hemoglobin defects in the autochthonous North-European population is low. However, the long immigration and colonial history of the Netherlands has resulted in a group of about 1–2 million ‘autochthonous‘ inhabitants,

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https://doi.org/10.1159/000016170

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Atypical HbH disease in a Surinamese patient resulting from a combination of the −SEA and −α 3.7 deletions with HbC heterozygosity

Autor: Piero C. Giordano, R. J. Plug, C. L. Harteveld, Monique Losekoot, W. Terpstra, Jan Jacques Michiels, M.J.R. van der Wielen, P. van Delft, D. Batelaan, Luigi F. Bernini

Publikováno v: British Journal of Haematology. 96:801-805

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 HbC were detected by electrophoresis. The amount of HbC was much less than expected in HbC h

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https://doi.org/10.1046/j.1365-2141.1997.d01-2093.x

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An IVS1-116 (A→G) acceptor splice site mutation in the α2 globin gene causing α+ thalassaemia in two Dutch families

Autor: Monique Losekoot, Pierre W. Wijermans, H. L. Haak, C. L. Harteveld, Peter Van Delft, Luigi F. Bernini, D. Batelaan, Piero C. Giordano, J. G. A. M. Heister

Publikováno v: British Journal of Haematology. 95:461-466

We report the characterization of an alpha +(-)thalassaemia determinant due to a transition A-->G of the acceptor splice consensus site sequence (IVS1-116) of the first intron of the alpha 2-globin gene. The mutation, found in two apparently unrelate

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https://doi.org/10.1046/j.1365-2141.1996.d01-1926.x

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A 200 GHz tripler using a single barrier varactor

Autor: Paul D. Batelaan, Debabani Choudhury, Margaret A. Frerking

Publikováno v: IEEE Transactions on Microwave Theory and Techniques. 41:595-599

The authors present results for a tripler to 200 GHz using a single barrier varactor (SBV). The performance of the tripler, over an output frequency range from 186 to 207 GHz, has been measured in a crossed waveguide mount. The theoretical performanc

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https://doi.org/10.1109/22.231651

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Hb Utrecht [α 2 129(H12)Leu → Pro], a new unstable α2‐chain variant associated with a mild α‐thalassaemic phenotype

Autor: Piero C. Giordano, C. L. Harteveld, Marrie C.A. Bruin, Luigi F. Bernini, J. G. A. M. Heister, Monique Losekoot, P. van Delft, D. Batelaan

Publikováno v: British Journal of Haematology. 94:483-485

We describe a new alpha 2-globin gene point mutation found in six individuals of a three-generation Dutch family. The mutant, which is associated with a mild alpha-thalassaemic phenotype, is not detectable at the protein level. The alpha 2 cd129 (CTG

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https://doi.org/10.1046/j.1365-2141.1996.d01-1828.x

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A 547 GHz SIS receiver employing a submicron Nb junction with an integrated matching circuit

Autor: William R. McGrath, Henry G. LeDuc, P. Febvre, J. Hernichel, Paul D. Batelaan, Margaret A. Frerking, B. Bumble

Publikováno v: 1993 IEEE MTT-S International Microwave Symposium Digest.

A heterodyne receiver using an SIS (superconductor-insulator-superconductor) waveguide mixer with two mechanical tuners has been built and characterized over the frequency range of 460 GHz to 630 GHz. This receiver is designed for radioastronomy appl

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https://doi.org/10.1109/mwsym.1993.276760

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