Výsledky vyhledávání - "Phylipsen, M."

Akademický článek

Occurrence of common and rare δ-globin gene defects in two multiethnic populations: thirteen new mutations and the significance of δ-globin gene defects in β-thalassemia diagnostics.

Autor: PHYLIPSEN, M.¹, GALLIVAN, M. V. E.², ARKESTEIJN, S. G. J.¹, HARTEVELD, C. L.¹, GIORDANO, P. C.¹ p.c.giordano@lumc.nl

Publikováno v: International Journal of Laboratory Hematology. Feb2011, Vol. 33 Issue 1, p85-91. 7p. 3 Charts, 3 Graphs.

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Development of new technological applications for post- and prenatal diagnosis of the hemoglobinopathies

Autor: Phylipsen, M.

Publikováno v: None

Hemoglobinopathies (HbP) are recessive hereditary disorders of hemoglobin, characterized by microcytic hypochromic anemia. HbP diagnostics encompasses three specialties: hematological, biochemical and molecular testing. Results of all tests together

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::c7abfd9f5124353f0d2a3a8a10f8f4fe
http://hdl.handle.net/1887/21051

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A novel α 0-thalassemia deletion in a Greek patient with HbH disease and β-thalassemia trait

Autor: Phylipsen, M. Traeger-Synodinos, J. van der Kraan, M. van Delft, P. Bakker, G. Geerts, M. Kanavakis, E. Stamoulakatou, A. Karagiorga, M. Giordano, P.C. Harteveld, C.L.

Objectives: To determine the molecular basis in a Greek child suspected of having HbH disease and β-thalassemia trait. Methods: Standard hematology, Hb electrophoresis, and HPLC. Multiplex ligation-dependent probe amplification (MLPA), direct sequen

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______2127::87ce8fb7a4fff4ecc5b057b8f8ba88af
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3128856

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NEW AND KNOWN beta-THALASSEMIA DETERMINANTS MASKED BY KNOWN AND NEW delta GENE DEFECTS [Hb A(2)-Ramallah OR delta 6(A3)Glu -> Gln, GAG >> CAG]

Autor: Phylipsen, M., Harteveld, C.L., Metz, M. de, Gallivan, M.V.E., Arkesteijn, S.G.J., Luo, H.Y., Chui, D.H.K., Giordano, P.C.

Publikováno v: Hemoglobin, 34(5), 445-450

We report a novel thalassemia determinant found in a Nigerian woman living in the Netherlands, resulting from a 2 bp insertion at codons 9/10 of the beta-globin gene (HBBc.28_29ins TA p. Ser10LeufsX11). The novel defect causes a frameshift with a con

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::9d20b5ae1e84d759aeaf8cbd3266ccb6
https://hdl.handle.net/1887/110188

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Two New alpha 1-Globin Gene Point Mutations: Hb Nedlands (HBA1:c.86C > T) [alpha 28(B9)Ala -> Val] and Hb Queens Park (HBA1:c.98T > A) [alpha 32(B13)Met -> Lys]

Autor: Phylipsen, M., Prior, J.F., Lim, E., Lingam, N., Finlayson, J., Arkesteijn, S.G.J., Harteveld, C.L., Giordano, P.C.

Publikováno v: Hemoglobin, 34(2), 123-126

We report two new point mutations of the alpha 1-globin gene found in a Greek and a Burmese patient, both living in Western Australia. The patients were initially selected for their microcytic hypochromic parameters as belonging to a group suspected

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::9b2f2f2ea183609fa70ca4fa1e384f85
http://hdl.handle.net/1887/110339

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Hb St. TRUIDEN [alpha 68(E17)Asn -> His] AND Hb WESTEINDE [alpha 125(H8)Leu -> Gln]: TWO NEW ABNORMALITIES OF THE alpha 2-GLOBIN GENE

Autor: Kaufmann, J.O., Phylipsen, M., Neven, C., Huisman, W., Delft, P. van, Bakker-Verweij, M., Arkesteijn, S.G.J., Harteveld, C.L., Giordano, P.C.

Publikováno v: Hemoglobin, 34(5), 439-444

We report two new abnormal hemoglobins (Hbs) caused by mutations on the alpha 2 gene. One resulted into an Asn-->His substitution at position 68, the other in a Leu-->Gln substitution at position 125. The first mutation was observed in a 61-year-old

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::d3989959526d1bdde3b942097acecfb5
http://hdl.handle.net/1887/105965

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Two new β-thalassemia deletions compromising prenatal diagnosis in an Italian and a Turkish couple seeking prevention

Autor: Phylipsen, M. Amato, A. Cappabianca, M.P. Traeger-Synodinos, J. Kanavakis, E. Basak, N. Galanello, R. Tuveri, T. Ivaldi, G. Harteveld, C.L. Giordano, P.C.

When the molecular background of couples requesting prevention is unclear, family analysis and tools to define rare mutations are essential. We report two novel deletion defects observed in an Italian and in a Turkish couple. The first proband presen

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______2127::4a250d48eed1f11cd3def6799e287bbc
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3112381

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