Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Peter J.M.J. Kok"'
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, Peter van Delft, Piero C. Giordano, Akosua Addo-Daaku, Margaretha J. Sander, Irene H. Van Rooijen‐Nijdam, Peter J.M.J. Kok
Publikováno v:
Hemoglobin. 31:167-171
We report a semi dominant beta-thalassemia (thal) phenotype caused by the rare Hb Showa-Yakushiji [beta110(G12)Leu-->Pro, CTG-->CCG] mutation in combination with an alpha gene triplication. This combination of two rare mutations was observed during h
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fc63c119519269ad616b396674af4c03
https://doi.org/10.1080/03630260701288922
https://doi.org/10.1080/03630260701288922
Autor:
Florens G. A. Versteegh, Cornelis L. Harteveld, Peter van Delft, Irene H. Van Rooijen‐Nijdam, Piero C. Giordano, Peter J.M.J. Kok
Publikováno v:
Hemoglobin. 30:349-354
We report a new structural defect of the alpha2-globin chain, not detectable on high performance liquid chromatography (HPLC) or electrophoresis, characterized in a 12-year-old boy of Surinamese-Hindustani origin. The child was suspected to be a carr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::21e27c0334ef9ba4a10d3e9ed8ceb849
https://doi.org/10.1080/03630260600755351
https://doi.org/10.1080/03630260600755351
Autor:
Cornelis L. Harteveld, Peter van Delft, Piero C. Giordano, Sandra G.J. Arkesteijn, Irene H. Van Rooijen‐Nijdam, Florens G. A. Versteegh, Peter J.M.J. Kok, Nicole Akkermans
Publikováno v:
Hemoglobin. 28:223-227
The hemoglobin (Hb) pattern of a 32-year-old Somali male living in The Netherlands, during routine diabetes mellitus monitoring, showed two more peaks in addition to the characteristic heterozygous Hb A/S pattern. A major peak of 15% faster than Hb A
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d49bd549984f565d64bbee81ec723150
https://doi.org/10.1081/hem-200029150
https://doi.org/10.1081/hem-200029150
Autor:
Jaap S. Starreveld, Irene H. Van Rooijen‐Nijdam, Piero C. Giordano, Florens G. A. Versteegh, Isabelle Zanella-Cléon, Peter van Delft, Henri Wajcman, Cornelis L. Harteveld, Eduard H.G. van Leer, Michel Becchi, Peter J.M.J. Kok
Publikováno v:
Hemoglobin. 31(3)
We report a new hemoglobin (Hb) variant found in a 6-year-old girl of Moroccan origin, living in the Dutch city of Gouda. The child was referred because of microcytic and hypochromic parameters. A normal zinc protoporphyirin (ZPP) value excluded iron
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9c2cb82cfd74b10280c093cc53288cda
https://pubmed.ncbi.nlm.nih.gov/17654068
https://pubmed.ncbi.nlm.nih.gov/17654068
Autor:
Peter J.M.J. Kok, Florens G. A. Versteegh, C. A. H. Janssen, A. Plancke, Piero C. Giordano, J. C. M. van Huisseling, C. A. Van Meir, B. C. Tanis, I. H. Van Rooijen-Nijdam
Publikováno v:
Prenatal diagnosis. 26(8)
Background We have offered, for the first time in The Netherlands, carrier diagnostics for hemoglobinopathies (HbP) to early pregnant women. The aim of this study was to establish whether carrier analysis would be welcome by the public and feasible a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8c9fcef893770c7c3cae0f9bd124244b
https://pubmed.ncbi.nlm.nih.gov/16752436
https://pubmed.ncbi.nlm.nih.gov/16752436
Autor:
Pierre W. Wijermans, Florens G. A. Versteegh, Irene H. Van Rooijen‐Nijdam, Juliette E. L. M. de Ree, Pauline Ter Hal, Peter van Delft, Ellen Rasp, Piero C. Giordano, Peter J.M.J. Kok, John H. M. Souverijn, Cornelis L. Harteveld
Publikováno v:
Hemoglobin. 28(1)
Hb Evanston [alpha14(A12)Trp --> Arg] is considered to be a rare alpha chain mutant, and was originally observed in two Black families in 1982, inducing a mild Hb H disease phenotype in a homozygous state for the -alpha3.7 deletion ( -alpha(Evanston)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8d7be6c466af9e3bb50a2d03e4723175
https://pubmed.ncbi.nlm.nih.gov/15008259
https://pubmed.ncbi.nlm.nih.gov/15008259
Autor:
Peter van Delft, Cornelis L. Harteveld, Piero C. Giordano, Rob Plug, Henri Wajcman, Jean Kister, Florens G. A. Versteegh, Irene van Rooijen, Peter J.M.J. Kok, Balt Hagen
Publikováno v:
Hemoglobin. 26(3)
Alpha-Thalassemia (thal) is generally considered to be an expression defect caused mostly by deletions silencing one or more alpha-globin genes. Although nondeletional alpha-thalassemia is considered rare, in our laboratory we frequently observe alph
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a0a5c97053eaad5d5bfb33e278d9cdb7
https://pubmed.ncbi.nlm.nih.gov/12403490
https://pubmed.ncbi.nlm.nih.gov/12403490
Autor:
J. K. Doorduijn, Luigi F. Bernini, Piero C. Giordano, C. L. Harteveld, Florens G. A. Versteegh, A. A. Geenen, Peter J.M.J. Kok
Publikováno v:
Europe PubMed Central
(1999). Haplotype analysis of two new, independent cases of Hb osu-christiansborg. Hemoglobin: Vol. 23, No. 2, pp. 193-195.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0eb2ed2fb19c2d38ded5052e0c6a76ad
http://europepmc.org/abstract/med/10335988
http://europepmc.org/abstract/med/10335988
