Zobrazeno 1 - 10
of 71
pro vyhledávání: '"Luigi F. Bernini"'
Publikováno v:
British Journal of Haematology. 119:848-854
The highly conserved 350-bp major regulatory element HS-40 (or alphaMRE) upstream of the human alpha-globin gene cluster is involved in the regulation of alpha-globin gene expression. The study of alphaMRE differences between human populations and th
Publikováno v:
Hemoglobin. 25:35-43
Prevention of beta-thalassemia implies knowledge of the molecular spectrum occurring in the population at risk. This knowledge is necessary, especially when a prevention protocol is applied to a multiethnic population. For this purpose, we have recen
Publikováno v:
British Journal of Haematology. 110:694-698
We describe the characterization of an alpha+-thalassaemia determinant as a result of a transition of G-->A of the donor splice consensus site sequence of the first intron of the alpha1-globin gene (alpha1IVS I-1). The mutation was found in combinati
Autor:
Piero C. Giordano, P. van Delft, H. M. van den Berg, Marrie C.A. Bruin, D. Roos, Luigi F. Bernini, R. van Zwieten, C. L. Harteveld, D. Batelaan
Publikováno v:
Hemoglobin. 23:135-144
We describe a new structural mutant of the beta-globin chain in a 17-year-old Dutch Caucasian girl. The mutant is associated with a severe pathology as a consequence of hyper-instability of the hemoglobin tetramer. The proband, whose parents had no h
Autor:
Piero C. Giordano, R. J. Plug, H. L. Haak, C. L. Harteveld, P. van Delft, Luigi F. Bernini, Marieke Emonts, D. Batelaan, R. Zanardini
Publikováno v:
British Journal of Haematology. 103:370-376
We describe a family with beta thalassaemia, apparently not linked to the beta-globin gene cluster, in combination with alpha thalassaemia. The propositus, an adult Dutch Caucasian male, and his son presented with microcytic hypochromic parameters. T
Autor:
Hans J. Tanke, Gert-Jan B. van Ommen, Mitchell S. Golbus, Maria C. M. Ouwerkerk-v. Velzen, Luigi F. Bernini, Wilma E. Mesker, Jan C. Oosterwijk, H. H. H. Kanhai
Publikováno v:
Prenatal Diagnosis. 18:1131-1137
We have developed a two-colour immunocytochemical staining method for the detection of fetal and embryonic haemoglobin in erythroid cells. The method was applied to study these haemoglobin types in fetal red cells. Specimens from fetal blood (10 week
Publikováno v:
Baillière's Clinical Haematology. 11:53-90
α-Thalassaemias are genetic defects extremely frequent in some populations and are characterized by the decrease or complete suppression of α-globin polypeptide chains. The gene cluster, which codes for and controls the production of these polypept
Autor:
R. J. Plug, C. L. Harteveld, Piero C. Giordano, D. Batelaan, P. van Delft, Luigi F. Bernini, Monique Losekoot, Angelien J.G.M. Heister
Publikováno v:
Public Health Genomics. 1:243-251
The prevalence at birth of hemoglobin defects in the autochthonous North-European population is low. However, the long immigration and colonial history of the Netherlands has resulted in a group of about 1–2 million ‘autochthonous‘ inhabitants,
Autor:
Luigi F. Bernini, A. J. G. A. M. Heister, Piero C. Giordano, M.J.R. van der Wielen, K. L. Harteveld, Monique Losekoot
Publikováno v:
Human Genetics. 100:465-471
In this article we describe the molecular characterization of 104 independent alpha-thalassemia patients identified by hematological analysis and family studies. During the study, another six chromosomes were identified with rearrangements of the alp
Publikováno v:
Human Genetics. 99:528-534
Alu repetitive sequences are frequently involved in homologous and non-homologous recombination events in the alpha-cluster. Possible mechanisms involved in Alu-mediated recombination events are strand exchange, promoted by DNA pairing between highly