Kaufmann JO - Search Results

1

After the introduction into the national newborn screening program: who is receiving genetic counseling for hemoglobinopathies in the Netherlands?

Kaufmann JO, Krapels IP, Van Brussel BT, Zekveld-Vroon RC, Oosterwijk JC, van Erp F, van Echtelt J, Zwijnenburg PJ, Petrij F, Bakker E, Giordano PC. Kaufmann JO, et al. Public Health Genomics. 2014;17(1):16-22. doi: 10.1159/000355223. Epub 2013 Nov 8. Public Health Genomics. 2014. PMID: 24216604

2

Basic haemoglobinopathy diagnostics in Dutch laboratories; providing an informative test result.

Kaufmann JO, Smit JW, Huisman W, Idema RN, Bakker E, Giordano PC. Kaufmann JO, et al. Int J Lab Hematol. 2013 Aug;35(4):428-35. doi: 10.1111/ijlh.12038. Epub 2012 Dec 14. Int J Lab Hematol. 2013. PMID: 23241064

3

Feasibility of nonselective testing for hemoglobinopathies in early pregnancy in The Netherlands.

Kaufmann JO, Demirel-Güngör G, Selles A, Hudig C, Steen G, Ponjee G, Holleboom C, Freeman LM, Hendiks J, Wijermans P, Giordano PC, Kerkhoffs JL. Kaufmann JO, et al. Prenat Diagn. 2011 Dec;31(13):1259-63. doi: 10.1002/pd.2882. Epub 2011 Oct 26. Prenat Diagn. 2011. PMID: 22031467

4

Hb Den Haag [beta45(CD4)Phe-->Tyr]. A new hemoglobin variant observed during early pregnancy diagnostics.

Kaufmann JO, Harteveld CL, Bakker-Verweij M, Arkesteijn SG, van Delft P, Haak H, Wijermans PW, Kerkhoffs JL, Giordano PC. Kaufmann JO, et al. Hemoglobin. 2010;34(1):37-44. doi: 10.3109/03630260903547435. Hemoglobin. 2010. PMID: 20113286

5

Hb St. Truiden [α68(E17)Asn→His] and Hb Westeinde [α125(H8)Leu→Gln]: two new abnormalities of the α2-globin gene.

Kaufmann JO, Phylipsen M, Neven C, Huisman W, van Delft P, Bakker-Verweij M, Arkesteijn SG, Harteveld CL, Giordano PC. Kaufmann JO, et al. Hemoglobin. 2010;34(5):439-44. doi: 10.3109/03630269.2010.509185. Hemoglobin. 2010. PMID: 20854117

6

Providing appropriate genetic information to healthy carriers of hemoglobinopathy can be a welcome and safe initiative: the Latium example.

Amato A, Lerone M, Grisanti P, Gizzi L, Kaufmann JO, Giordano PC. Amato A, et al. Among authors: kaufmann jo. Genet Test Mol Biomarkers. 2012 Jul;16(7):734-8. doi: 10.1089/gtmb.2011.0290. Epub 2012 Jun 25. Genet Test Mol Biomarkers. 2012. PMID: 22731645

7

Hb Boskoop [HBA2c.112C>T p.Pro38Ser]: a new α2 chain variant observed in a Morrocan family.

Versteegh FG, Arkesteijn SG, Bakker-Verweij M, Haanappel K, van Delft P, Phylipsen M, Kaufmann JO, Kok PJ, Lansbergen GW, Giordano PC, Harteveld CL. Versteegh FG, et al. Among authors: kaufmann jo. Hemoglobin. 2011;35(2):97-102. doi: 10.3109/03630269.2011.557459. Hemoglobin. 2011. PMID: 21417565

8

Hb Nile[A1] and Hb Nile[A2]: novel identical [alpha77(EF6)Pro-->Ser] variants found in either the alpha1- or alpha2-globin genes.

van Zwieten R, Kaufmann JO, Vuil H, Kouwenberg J, Verhoeven AJ, Fogelberg K, Harteveld CL, Giordano PC. van Zwieten R, et al. Among authors: kaufmann jo. Hemoglobin. 2009;33(3):188-95. doi: 10.1080/03630260903091918. Hemoglobin. 2009. PMID: 19657832

9

Elastin-specific MR probe for visualization and evaluation of an interleukin-1β targeted therapy for atherosclerosis.

Mangarova DB, Reimann C, Kaufmann JO, Möckel J, Kader A, Adams LC, Ludwig A, Onthank D, Robinson S, Karst U, Helmer R, Botnar R, Hamm B, Makowski MR, Brangsch J. Mangarova DB, et al. Among authors: kaufmann jo. Sci Rep. 2024 Sep 4;14(1):20648. doi: 10.1038/s41598-024-71716-5. Sci Rep. 2024. PMID: 39232217 Free PMC article.

10

Simple Determination of Affinity Constants of Antibodies by Competitive Immunoassays.

Fischer J, Kaufmann JO, Weller MG. Fischer J, et al. Among authors: kaufmann jo. Methods Protoc. 2024 Jun 13;7(3):49. doi: 10.3390/mps7030049. Methods Protoc. 2024. PMID: 38921828 Free PMC article.

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