Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Judith O. Kaufmann"'
Publikováno v:
Genetic Testing and Molecular Biomarkers. 16:734-738
To register the opinions and feelings of (presumed) unaware healthy hemoglobinopathy carriers, receiving information on their carrier status.We collected 259 interviews from the parents of secondary school students, after their children had been prov
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::02bbcc4db6222f5adb8e40aa2a7792a0
https://doi.org/10.1089/gtmb.2011.0290
https://doi.org/10.1089/gtmb.2011.0290
Autor:
Cisca Hudig, Judith O. Kaufmann, Pierre W. Wijermans, Liv M. Freeman, Gabrielle Ponjee, Gönül Demirel-Güngör, Jean-Louis H. Kerkhoffs, Gerard Steen, Cas Holleboom, Joris Hendiks, Piero C. Giordano, Anke Selles
Publikováno v:
Prenatal Diagnosis. 31:1259-1263
OBJECTIVE To examine the feasibility of standardized hemoglobinopathy (HBP) carrier testing for pregnant women in The Netherlands in addition to the standard anemia screening. METHODS We assessed the prevalence of HBP in women at the time of the firs
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c36eb8edcea217c02428c892037210e3
https://doi.org/10.1002/pd.2882
https://doi.org/10.1002/pd.2882
Autor:
Peter J.M.J. Kok, Judith O. Kaufmann, Piero C. Giordano, Margreet Bakker-Verweij, Sandra G.J. Arkesteijn, Florens G. A. Versteegh, Cornelis L. Harteveld, Peter van Delft, Marion Phylipsen, Gideon W.A. Lansbergen, Karola Haanappel
Publikováno v:
Hemoglobin, 35(2), 97-102
We describe a new nondeletional α-thalassemia (α-thal) determinant found in a Moroccan infant and in two members of his family. The new mutation generates an abnormal hemoglobin (Hb) as a consequence of a Pro→Ser amino acid substitution at codon
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cded5ac4cbdb85c7d80f72ab22d17338
https://doi.org/10.3109/03630269.2011.557459
https://doi.org/10.3109/03630269.2011.557459
Autor:
Cornelis L. Harteveld, Jan Kouwenberg, Piero C. Giordano, Judith O. Kaufmann, Arthur J. Verhoeven, Kea Fogelberg, Rob van Zwieten, Herma Vuil
Publikováno v:
Hemoglobin. 33:188-195
We describe a novel hemoglobin (Hb) variant, caused by a CCC > TCC transition at codon 77 on the alpha gene. The mutation was found in two unrelated patients, in one patient on the alpha1 gene and in the other patient on the alpha2 gene. Both are ane
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::83f7290a29907a5208575f00d2a3800d
https://doi.org/10.1080/03630260903091918
https://doi.org/10.1080/03630260903091918
Autor:
Rutger Meinsma, Annemieke J.M. de Ruijter, André B.P. van Kuilenburg, Judith O. Kaufmann, Stephan Kemp, Huib N. Caron, Gert Jan Kramer
Publikováno v:
Biochemical pharmacology, 68(7), 1279-1288. Elsevier Inc.
Neuroblastoma is a childhood cancer arising from the sympathetic nervous system. Disseminated neuroblastoma has a poor prognosis despite intensive multimodality treatment. Histone deacetylases (HDACs) were recently discovered as a potential target fo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fa4f7756baf048bf28c41a390c23ef32
https://doi.org/10.1016/j.bcp.2004.05.010
https://doi.org/10.1016/j.bcp.2004.05.010
Publikováno v:
International Journal of Laboratory Hematology, 35(4), 428-435
Summary Introduction After a first survey in 2001, the Dutch Association of Hematological Laboratory Research (VHL) advised its members to adopt a basic protocol for haemoglobinopathy carrier detection and to provide genetic information with all posi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7d4c83985e82578e8824e9853e68e543
https://pubmed.ncbi.nlm.nih.gov/23241064
https://pubmed.ncbi.nlm.nih.gov/23241064
Autor:
Judith O, Kaufmann, Gönül, Demirel-Güngör, Anke, Selles, Cisca, Hudig, Gerard, Steen, Gabrielle, Ponjee, Cas, Holleboom, Liv M, Freeman, Joris, Hendiks, Pierre, Wijermans, Piero C, Giordano, Jean-Louis, Kerkhoffs
Publikováno v:
Prenatal diagnosis. 31(13)
To examine the feasibility of standardized hemoglobinopathy (HBP) carrier testing for pregnant women in The Netherlands in addition to the standard anemia screening.We assessed the prevalence of HBP in women at the time of the first pregnancy visit u
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::2afb4d264d118dcddb57bd83f8607123
https://pubmed.ncbi.nlm.nih.gov/22031467
https://pubmed.ncbi.nlm.nih.gov/22031467
Autor:
Piero C. Giordano, Catherine Neven, Margreet Bakker-Verweij, Judith O. Kaufmann, Marion Phylipsen, Sandra G.J. Arkesteijn, Peter van Delft, Cornelis L. Harteveld, Wim Huisman
Publikováno v:
Hemoglobin. 34(5)
We report two new abnormal hemoglobins (Hbs) caused by mutations on the α2 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 Nort
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a0f296610b8d6779e45129bdd4d9cab2
https://pubmed.ncbi.nlm.nih.gov/20854117
https://pubmed.ncbi.nlm.nih.gov/20854117
Autor:
Cornelis L. Harteveld, Sandra G.J. Arkesteijn, Judith O. Kaufmann, Piero C. Giordano, H. L. Haak, Margreet Bakker-Verweij, Jean-Louis H. Kerkhoffs, Peter van Delft, Pierre W. Wijermans
Publikováno v:
Hemoglobin. 34(1)
During a second pilot study, intended to explore the possibility of a country wide implementation of carrier diagnostics for hemoglobinopathies in The Netherlands, we observed a new abnormal hemoglobin (Hb) variant in three members of a family of Sca
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::130f58ce66e8a7ad3882fa03925a894e
https://pubmed.ncbi.nlm.nih.gov/20113286
https://pubmed.ncbi.nlm.nih.gov/20113286
Autor:
Rob, van Zwieten, Judith O, Kaufmann, Herma, Vuil, Jan, Kouwenberg, Arthur J, Verhoeven, Kea, Fogelberg, Cornelis L, Harteveld, Piero C, Giordano
Publikováno v:
Hemoglobin. 33(3)
We describe a novel hemoglobin (Hb) variant, caused by a CCCTCC transition at codon 77 on the alpha gene. The mutation was found in two unrelated patients, in one patient on the alpha1 gene and in the other patient on the alpha2 gene. Both are anemic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::57fcf0289b3d62fbfab8a36a970e009e
https://pubmed.ncbi.nlm.nih.gov/19657832
https://pubmed.ncbi.nlm.nih.gov/19657832