Search Results - "Písacka, Martin"

A new missense variant in exon 7 of the ABO gene, c.662G>A, in a family with B w phenotype by Hult, Annika K, Hellberg, Åsa, Storry, Jill R, Písacka, Martin, Olsson, Martin L

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FYA silencing by the GATA-motif variant FYA(−69C) in a Caucasian family by Písačka, Martin, Marinov, Iuri, Králová, Miroslava, Králová, Jana, Kořánová, Michaela, Bohoněk, Miloš, Sood, Chhavi, Ochoa-Garay, Gorka

“…BACKGROUND The c.1‐67C variant polymorphism in a GATA motif of the FY promoter is known to result in erythroid‐specific FY silencing, that is, in Fy(a−) and…”
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D variants at the RhD vestibule in the weak D type 4 and Eurasian D clusters by Flegel, Willy A., Von Zabern, Inge, Doescher, Andrea, Wagner, Franz F., Strathmann, Klaus P., Geisen, Christof, Palfi, Miodrag, Písačka, Martin, Poole, Joyce, Polin, Helene, Gabriel, Christian, Avent, Neil D.

“…BACKGROUND: One branch of the RHD phylogenetic tree is represented by the weak D type 4 cluster of alleles with F223V as the primordial amino acid…”
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A new missense variant in exon 7 of the ABO gene, c. 662G >A, in a family with B w phenotype by Hult, Annika K., Hellberg, Åsa, Storry, Jill R., Písacka, Martin, Olsson, Martin L.

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A new missense variant in exon 7 of the ABO gene, c.662G>A, in a family with B w phenotype by Hult, Annika K, Hellberg, Åsa, Storry, Jill R, Písacka, Martin, Olsson, Martin L

“…1 BACKGROUNDWeak expression of ABO antigens is encountered in the clinical laboratory occasionally, and subgroups of A are more commonly observed in Europeans…”
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The BloodGen project: toward mass-scale comprehensive genotyping of blood donors in the European Union and beyond by Avent, Neil D., Martinez, Antonio, Flegel, Willy A., Olsson, Martin L., Scott, Marion L., Nogués, Núria, Písǎcka, Martin, Daniels, Geoff, Van Der Schoot, Ellen, Muñiz-Diaz, Eduardo, Madgett, Tracey E., Storry, Jill R., Beiboer, Sigrid H., Maaskant-van Wijk, Petra A., Von Zabern, Inge, Jiménez, Elisa, Tejedor, Diego, López, Mónica, Camacho, Emma, Cheroutre, Goedele, Hacker, Anita, Jinoch, Pavel, Svobodova, Irena, De Haas, Masja

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A new missense variant in exon 7 of the ABO gene, c.662G>A, in a family with Bw phenotype by Hult, Annika K., Hellberg, Åsa, Storry, Jill R., Písacka, Martin, Olsson, Martin L.

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DCS-1, DCS-2, and DFV share amino acid substitutions at the extracellular RhD protein vestibule by Flegel, Willy A., Von Zabern, Inge, Doescher, Andrea, Wagner, Franz F., Vytisková, Jindra, Písačka, Martin

“…BACKGROUND: RhD and RhCE are structurally related to ammonium transporter proteins, yet their physiologic function remains unclear. Recent three‐dimensional…”
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The Bloodgen Project of the European Union, 2003–2009 by Avent, Neil D., Martinez, Antonio, Flegel, Willy A., Olsson, Martin L., Scott, Marion L., Nogués, Núria, Píšacka, Martin, Daniels, Geoff L., Muñiz-Diaz, Eduardo, Madgett, Tracey E., Storry, Jill R., Beiboer, Sigrid, Maaskant-van Wijk, Petra M., von Zabern, Inge, Jiménez, Elisa, Tejedor, Diego, López, Mónica, Camacho, Emma, Cheroutre, Goedele, Hacker, Anita, Jinoch, Pavel, Svobodova, Irena, van der Schoot, Ellen, de Haas, Masja

“…The Bloodgen project was funded by the European Commission between 2003 and 2006, and involved academic blood centres, universities, and Progenika Biopharma…”
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The McLeod syndrome without acanthocytes by Klempíř, Jiří, Roth, Jan, Zárubová, Kateřina, Písačka, Martin, Špačková, Nataša, Tilley, Louise

“…Abstract A 45-year-old man developed chorea, behavioural changes, moderate amyotrophy and polyneuropathy. Hypertrophic cardiomyopathy and increased serum…”
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Autoimmune hemolytic anemia by Čermák, Jaroslav, Písačka, Martin

“…Autoimmune hemolytic anemia (AIHA) is caused by auto-antibodies directed against self red blood cell (RBC) surface antigens. A consequence may be an…”
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Optimization of diagnostic strategy for non‐invasive cell‐free foetal RHD determination from maternal plasma by Pazourkova, Eva, Zednikova, Iveta, Korabecna, Marie, Kralova, Jana, Pisacka, Martin, Novotna, Michaela, Calda, Pavel, Horinek, Ales

“…Background and objectives The aim of the study was to optimize routine non‐invasive prenatal detection of fetal RHD gene from plasma of RhD‐negative pregnant…”
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Solid phase synthesis of glycopeptide dendrimers with Tn antigenic structure and their biological activities. Part I by Ježek, Jan, Velek, Jiří, Vepřek, Pavel, Velková, Vlasta, Trnka, Tomáš, Pecka, Jaroslav, Ledvina, Miroslav, Vondrášek, Jiří, Písačka, Martin

“…Multiple antigenic peptides containing dimeric Tn antigen [Ac‐(Tn)2‐γ‐Abu]4‐(Lys‐X)2‐Lys‐β‐Ala (V: X=0; VIII: X=γ‐Abu) and…”
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Blood group B glycosphingolipids in α-galactosidase deficiency (Fabry disease): influence of secretor status by Ledvinová, Jana, Poupětová, Helena, Hanáčková, Alžběta, Pı́sačka, Martin, Elleder, Milan

“…Defect in degradation of blood group B-immunoactive glycosphingolipids in Fabry disease (deficiency of lysosomal α-galactosidase EC 3.2.1.22) has been studied…”
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Molecular Analysis of Rh Transcripts and Polypeptides From Individuals Expressing the DVI Variant Phenotype: An RHD Gene Deletion Event Does Not Generate All DVIccEe Phenotypes by Avent, Neil D., Liu, Wendy, Jones, Jeff W., Scott, Marion L., Voak, Douglas, Pisacka, Martin, Watt, Julie, Fletcher, Anne

“…The D antigen is a mosaic comprising at least 30 epitopes. Partial Rh D phenotypes occur when there is absence of one or more of these epitopes, with the…”
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The use of the computer cross-match by Engelfriet, C. P., Reesink, H. W., Engelfriet, C. P., Reesink, H. W.

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Molecular analysis of Rh transcripts and polypeptides from individuals expressing the DVI variant phenotype: An RHD gene deletion event does not generate all DVIccEe phenotypes by AVENT, N. D, LIU, W, JONES, J. W, SCOTT, M. L, VOAK, D, PISACKA, M, WATT, J, FLETCHER, A

“…The D antigen is a mosaic comprising at least 30 epitopes. Partial Rh D phenotypes occur when there is absence of one or more of these epitopes, with the…”
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