Beta-thalassemia: from genotype to phenotype
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| Vydáno v: | Haematologica (Roma) Ročník 96; číslo 11; s. 1573 - 1575 |
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| Hlavní autoři: | , , |
| Médium: | Journal Article |
| Jazyk: | angličtina |
| Vydáno: |
Italy
Ferrata Storti Foundation
01.11.2011
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| Témata: | |
| ISSN: | 0390-6078, 1592-8721, 1592-8721 |
| On-line přístup: | Získat plný text |
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| Bibliografie: | SourceType-Scholarly Journals-1 content type line 23 ObjectType-Editorial-2 ObjectType-Commentary-1 Fabrice Danjou, MD, specialized in epidemiology with a PhD in pediatric pharmacology. In recent years, he has mainly been involved in statistical genetics for genome-wide studies and clinical research. He currently works at both the Ospedale Microcitemico of Cagliari, Italy, and the Institute of Genetic and Biomedical Research for the Italian Research Council. Current interests are the analysis of high-throughput genotyping technology data for the clinical aspects of hematologic diseases. Franco Anni is a biologist with a PhD in pediatric pharmacology and a masters in bioinformatics. He is currently working as a researcher at the Department of Biological Sciences and Biotechnology of the University of Cagliari, Italy. In recent years, he has mainly been working on genome-wide studies both in Italy and at the Jefferson University Kimmel Cancer Center. He is now particularly interested in deep exome-sequencing data production and analysis. Professor Galanello is Professor of Pediatrics at the University of Cagliari. He is Director of the Pediatric Clinic II of the Thalassemia Unit at Ospedale Regionale per le Microcitemie (a WHO Collaborating Center for Community Control of Hereditary Disease) and of the Department Biomedical Sciences and Biotechnologies, Cagliari, Italy. His main research interests are the clinical aspects and molecular genetics of thalassemias and other hemoglobinopathies, glucose-6-phosphate dehydrogenase deficiency, and Gilbert syndrome. Over the last ten years he has been the principal investigator of several clinical trials of new oral iron chelators. He is author of over 210 peer reviewed publications and is co-author of the books “Prevention of thalassemias and other haemoglobin disorders” (vols. 1 and 2), edited by the Thalassemia International Federation, and of the chapter “The Thalassemias” in Wintrobe’s Clinical Hematology book (11th edition). |
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| ISSN: | 0390-6078 1592-8721 1592-8721 |
| DOI: | 10.3324/haematol.2011.055962 |